Alternative name(s) : Triglyceride storage disease with impaired long-chain fatty acid oxidation (275630), Ichthyolitic neutral lipid storage disease, neutral lipid storage disease, NLSD-1, NLSD-I, Dorfman-Chanarin syndrome, DCS, Ichthyosiform erythroderma with leukocyte vacuolation, Congenital ichthyosiform erythroderma (CIE)
Gene_locus : human-ABHD5
Mutation : 44 mutations IVS6-1G>A_human-ABHD5 S33X_human-ABHD5 Q130P_human-ABHD5 E7K_human-ABHD5 R199QfsX10_human-ABHD5 E260K_human-ABHD5 R16VfsX19_human-ABHD5 R184X_human-ABHD5 H251P_human-ABHD5 R234X_human-ABHD5 H82R_human-ABHD5 R312X_human-ABHD5 T206RfsX7_human-ABHD5 Q190X_human-ABHD5 S115G_human-ABHD5 E336X_human-ABHD5 S17fsX1_human-ABHD5 A321VfsX10_human-ABHD5 I300X_human-ABHD5 G221VfsX9_human-ABHD5 R297X_human-ABHD5 IVS4-1G>A_human-ABHD5 IVS3-2A>G_human-ABHD5 V225CfsX4_human-ABHD5 exon1del_human-ABHD5 IVS5+1delG_human-ABHD5 IVS3-3C>G_human-ABHD5 IVS3_insLINE_human-ABHD5 IVS5+5G>A_human-ABHD5 S73A_human-ABHD5 Y50X_human-ABHD5 IVS6+6A>T_human-ABHD5 C99X_human-ABHD5 W138X_human-ABHD5 S258RfsX21_human-ABHD5 R280X_human-ABHD5 I72T_human-ABHD5 R114L_human-ABHD5 L187QfsX13_human-ABHD5 T65A_human-ABHD5 G14X_human-ABHD5 Y250D_human-ABHD5 G271R_human-ABHD5 Q279RfsX14_human-ABHD5
Comment
(from OMIM) By examining the critical region for triglyceride storage disease with impaired long-chain fatty acid oxidation, a rare autosomal recessive form of NCIE (242100), on chromosome 3p21, Lefevre et al.(2001) identified several candidate genes, one of which, designated comparative gene identification-58 (human-ABHD5).In 9 families from the Mediterranean basin segregating triglyceride storage disease with impaired long-chain fatty acid oxidation, Lefevre et al. (2001) identified 8 different haplotypes and mutations in the human-ABHD5 gene. Many more mutations have been described since then (see below). The Family in ESTHER id CGI-58_ABHD5_ABHD4. The disease locus was designated NLSDI (neutral lipid storage disease with ichtyosis). Symptoms are close to NLSMD (neutral lipid storage disease with myopathy) which is due to mutations in patatin-like phospholipase domain-containing protein-2 (adipose triglyceride lipase\; ATGL (PNPLA2)\; not an alpha beta hydrolase Fischer et al.<\/A>). But NLSMD do not show ichtyolisis and in NLSDI myopathy is milder. However ABDH5 interacts and activates ATGL (Yamaguchi et al.<\/A>). Two highly conserved ABHD5 amino acids (R299 and G328) enabled ABHD4 (ABHD4 N303R\/S332G) to activate ATGL. The corresponding ABHD5 mutations (ABHD5 R299N and ABHD5 G328S) selectively disrupted lipolysis without affecting ATGL lipid droplet translocation or ABHD5 interactions with perilipin proteins and ABHD5 ligands (Sanders et al.<\/A>)| Title : Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome - Tavian_2021_Eur.J.Transl.Myol__ |
| Author(s) : Tavian D , Durdu M , Angelini C , Torre E , Missaglia S |
| Ref : Eur J Transl Myol , : , 2021 |
| Abstract : Tavian_2021_Eur.J.Transl.Myol__ |
| ESTHER : Tavian_2021_Eur.J.Transl.Myol__ |
| PubMedSearch : Tavian_2021_Eur.J.Transl.Myol__ |
| PubMedID: 33985321 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Chanarin-Dorfman Syndrome: A comprehensive review - Cakmak_2021_Liver.Int_41_905 |
| Author(s) : Cakmak E , Bagci G |
| Ref : Liver Int , 41 :905 , 2021 |
| Abstract : Cakmak_2021_Liver.Int_41_905 |
| ESTHER : Cakmak_2021_Liver.Int_41_905 |
| PubMedSearch : Cakmak_2021_Liver.Int_41_905 |
| PubMedID: 33455044 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Two cases of non-alcoholic fatty liver disease caused by biallelic ABHD5 mutations - |
| Author(s) : Adant I , Declercq M , Bird M , Bauters M , Boeckx N , Devriendt K , Cassiman D , Witters P |
| Ref : Journal of Hepatology , 72 :1030 , 2020 |
| PubMedID: 32107051 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings - Eskiocak_2019_Lipids.Health.Dis_18_232 |
| Author(s) : Eskiocak AH , Missaglia S , Moro L , Durdu M , Tavian D |
| Ref : Lipids Health Dis , 18 :232 , 2019 |
| Abstract : Eskiocak_2019_Lipids.Health.Dis_18_232 |
| ESTHER : Eskiocak_2019_Lipids.Health.Dis_18_232 |
| PubMedSearch : Eskiocak_2019_Lipids.Health.Dis_18_232 |
| PubMedID: 31883530 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene - Louhichi_2019_Orphanet.J.Rare.Dis_14_112 |
| Author(s) : Louhichi N , Bahloul E , Marrakchi S , Othman HB , Triki C , Aloulou K , Trabelsi L , Mahfouth N , Ayadi-Mnif Z , Keskes L , Fakhfakh F , Turki H |
| Ref : Orphanet J Rare Dis , 14 :112 , 2019 |
| Abstract : Louhichi_2019_Orphanet.J.Rare.Dis_14_112 |
| ESTHER : Louhichi_2019_Orphanet.J.Rare.Dis_14_112 |
| PubMedSearch : Louhichi_2019_Orphanet.J.Rare.Dis_14_112 |
| PubMedID: 31118107 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function - Missaglia_2019_Cells_8_ |
| Author(s) : Missaglia S , Coleman RA , Mordente A , Tavian D |
| Ref : Cells , 8 : , 2019 |
| Abstract : Missaglia_2019_Cells_8_ |
| ESTHER : Missaglia_2019_Cells_8_ |
| PubMedSearch : Missaglia_2019_Cells_8_ |
| PubMedID: 30795549 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations - Youssefian_2019_J.Hepatol_71_366 |
| Author(s) : Youssefian L , Vahidnezhad H , Saeidian AH , Pajouhanfar S , Sotoudeh S , Mansouri P , Amirkashani D , Zeinali S , Levine MA , Peris K , Colombo R , Uitto J |
| Ref : Journal of Hepatology , 71 :366 , 2019 |
| Abstract : Youssefian_2019_J.Hepatol_71_366 |
| ESTHER : Youssefian_2019_J.Hepatol_71_366 |
| PubMedSearch : Youssefian_2019_J.Hepatol_71_366 |
| PubMedID: 30954460 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents - Durdu_2018_BMC.Med.Genet_19_88 |
| Author(s) : Durdu M , Missaglia S , Moro L , Tavian D |
| Ref : BMC Med Genet , 19 :88 , 2018 |
| Abstract : Durdu_2018_BMC.Med.Genet_19_88 |
| ESTHER : Durdu_2018_BMC.Med.Genet_19_88 |
| PubMedSearch : Durdu_2018_BMC.Med.Genet_19_88 |
| PubMedID: 29843625 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : A New Case of Chanarin-Dorfman Syndrome with a Novel Deletion in ABHD5 Gene - Nakhaei_2018_Iran.Biomed.J_22_415 |
| Author(s) : Nakhaei S , Heidary H , Rahimian A , Vafadar M , Rohani F , Bahoosh GR , Amirkashani D |
| Ref : Iran Biomed J , 22 :415 , 2018 |
| Abstract : Nakhaei_2018_Iran.Biomed.J_22_415 |
| ESTHER : Nakhaei_2018_Iran.Biomed.J_22_415 |
| PubMedSearch : Nakhaei_2018_Iran.Biomed.J_22_415 |
| PubMedID: 29475365 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : An unusual presentation of LCAT deficiency as nephrotic syndrome with normal serum HDL-C level - Balwani_2017_J.Nephropharmacol_6_23 |
| Author(s) : Balwani MR , Ghodela VA , Kute VB , Shah PR , Patel HV , Gera DN , Vanikar A , Trivedi HL |
| Ref : J Nephropharmacol , 6 :23 , 2017 |
| Abstract : Balwani_2017_J.Nephropharmacol_6_23 |
| ESTHER : Balwani_2017_J.Nephropharmacol_6_23 |
| PubMedSearch : Balwani_2017_J.Nephropharmacol_6_23 |
| PubMedID: 28508023 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families - Shah_2017_Int.J.Dermatol_56_1406 |
| Author(s) : Shah K , Mehmood S , Jan A , Abbe I , Hussain Ali R , Khan A , Chishti MS , Lee K , Ahmad F , Ansar M , Shahzad S , Nickerson DA , Bamshad MJ , Coucke PJ , Santos-Cortez RLP , Spritz RA , Leal SM , Ahmad W |
| Ref : Int J Dermatol , 56 :1406 , 2017 |
| Abstract : Shah_2017_Int.J.Dermatol_56_1406 |
| ESTHER : Shah_2017_Int.J.Dermatol_56_1406 |
| PubMedSearch : Shah_2017_Int.J.Dermatol_56_1406 |
| PubMedID: 29130490 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Neutral Lipid Storage Diseases: clinical\/genetic features and natural history in a large cohort of Italian patients - Pennisi_2017_Orphanet.J.Rare.Dis_12_90 |
| Author(s) : Pennisi EM , Arca M , Bertini E , Bruno C , Cassandrini D , D'Amico A , Garibaldi M , Gragnani F , Maggi L , Massa R , Missaglia S , Morandi L , Musumeci O , Pegoraro E , Rastelli E , Santorelli FM , Tasca E , Tavian D , Toscano A , Angelini C |
| Ref : Orphanet J Rare Dis , 12 :90 , 2017 |
| Abstract : Pennisi_2017_Orphanet.J.Rare.Dis_12_90 |
| ESTHER : Pennisi_2017_Orphanet.J.Rare.Dis_12_90 |
| PubMedSearch : Pennisi_2017_Orphanet.J.Rare.Dis_12_90 |
| PubMedID: 28499397 |
| Title : Molecular Basis of ABHD5 Lipolysis Activation - Sanders_2017_Sci.Rep_7_42589 |
| Author(s) : Sanders MA , Zhang H , Mladenovic L , Tseng YY , Granneman JG |
| Ref : Sci Rep , 7 :42589 , 2017 |
| Abstract : Sanders_2017_Sci.Rep_7_42589 |
| ESTHER : Sanders_2017_Sci.Rep_7_42589 |
| PubMedSearch : Sanders_2017_Sci.Rep_7_42589 |
| PubMedID: 28211464 |
| Gene_locus related to this paper: mouse-abhd4 , mouse-abhd5 |
| Title : Chanarin-Dorfman syndrome with rare renal involvement - |
| Author(s) : Verma SB , Mittal A , Wollina U , Eckstein GH , Gohel K , Giehl K |
| Ref : Br J Dermatol , 176 :545 , 2017 |
| PubMedID: 27858988 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Chanarin-Dorfman syndrome in three siblings in a non-consanguineous family - |
| Author(s) : Gomez-Moyano E , Godoy-Diaz DJ , Ponce-Verdugo L , Sanz-Trelles A , Vera-Casano A , Sierra-Salinas C |
| Ref : J Eur Acad Dermatol Venereol , 30 :157 , 2016 |
| PubMedID: 25087691 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Chanarin Dorfman syndrome: a case report with novel nonsense mutation - Gupta_2016_Gene_575_359 |
| Author(s) : Gupta N , Gothwal S , Satpathy AK , Missaglia S , Tavian D , Das P , Timila D , Kabra M |
| Ref : Gene , 575 :359 , 2016 |
| Abstract : Gupta_2016_Gene_575_359 |
| ESTHER : Gupta_2016_Gene_575_359 |
| PubMedSearch : Gupta_2016_Gene_575_359 |
| PubMedID: 26353074 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients - Pigg_2016_Acta.Derm.Venereol_96_932 |
| Author(s) : Pigg MH , Bygum A , Ganemo A , Virtanen M , Brandrup F , Zimmer AD , Hotz A , Vahlquist A , Fischer J |
| Ref : Acta Derm Venereol , 96 :932 , 2016 |
| Abstract : Pigg_2016_Acta.Derm.Venereol_96_932 |
| ESTHER : Pigg_2016_Acta.Derm.Venereol_96_932 |
| PubMedSearch : Pigg_2016_Acta.Derm.Venereol_96_932 |
| PubMedID: 27025581 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome - |
| Author(s) : Takeichi T , Sugiura K , Tso S , Simpson MA , McGrath JA , Akiyama M |
| Ref : J Dermatol Sci , 81 :134 , 2016 |
| PubMedID: 26547112 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : ABHD5\/CGI-58, the Chanarin-Dorfman Syndrome Protein, Mobilises Lipid Stores for Hepatitis C Virus Production - Vieyres_2016_PLoS.Pathog_12_e1005568 |
| Author(s) : Vieyres G , Welsch K , Gerold G , Gentzsch J , Kahl S , Vondran FW , Kaderali L , Pietschmann T |
| Ref : PLoS Pathog , 12 :e1005568 , 2016 |
| Abstract : Vieyres_2016_PLoS.Pathog_12_e1005568 |
| ESTHER : Vieyres_2016_PLoS.Pathog_12_e1005568 |
| PubMedSearch : Vieyres_2016_PLoS.Pathog_12_e1005568 |
| PubMedID: 27124600 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Chanarin-Dorfman Syndrome - Waheed_2016_J.Coll.Physicians.Surg.Pak_26_787 |
| Author(s) : Waheed N , Cheema HA , Suleman H , Mushtaq I , Fayyaz Z |
| Ref : J Coll Physicians Surg Pak , 26 :787 , 2016 |
| Abstract : Waheed_2016_J.Coll.Physicians.Surg.Pak_26_787 |
| ESTHER : Waheed_2016_J.Coll.Physicians.Surg.Pak_26_787 |
| PubMedSearch : Waheed_2016_J.Coll.Physicians.Surg.Pak_26_787 |
| PubMedID: 27671187 |
| Title : Chanarin-Dorfman syndrome: a novel mutation in a Turkish girl - Unlusoy Aksu_2015_Turk.J.Pediatr_57_300 |
| Author(s) : Unlusoy Aksu A , Sari S , Egritas Gurkan O , Dalgic B |
| Ref : Turk J Pediatr , 57 :300 , 2015 |
| Abstract : Unlusoy Aksu_2015_Turk.J.Pediatr_57_300 |
| ESTHER : Unlusoy Aksu_2015_Turk.J.Pediatr_57_300 |
| PubMedSearch : Unlusoy Aksu_2015_Turk.J.Pediatr_57_300 |
| PubMedID: 26701953 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : [Chanarin-Dorfman syndrome in a 7-year-old child: when myophathy and skin involvement are all but one] - |
| Author(s) : Barnerias C , Bassez G , Schischmanoff O |
| Ref : Med Sci (Paris) , 31 Spec No 3 :11 , 2015 |
| PubMedID: 26546924 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Congenital ichtyosis and hetomegaly: Think about Chanarin Dorfman syndrome - |
| Author(s) : Ben Ameur S , Aloulou H , Wali M , Alibi S , Chaari M , Kallel C , Kamoun T , Hachicha M |
| Ref : Tunis Med , 93 :482 , 2015 |
| PubMedID: 26757512 |
| Title : Chanarin-Dorfman syndrome: A case report and review of the literature - Mogahed_2015_Arab.J.Gastroenterol_16_142 |
| Author(s) : Mogahed EA , El-Hennawy A , El-Sayed R , El-Karaksy H |
| Ref : Arab J Gastroenterol , 16 :142 , 2015 |
| Abstract : Mogahed_2015_Arab.J.Gastroenterol_16_142 |
| ESTHER : Mogahed_2015_Arab.J.Gastroenterol_16_142 |
| PubMedSearch : Mogahed_2015_Arab.J.Gastroenterol_16_142 |
| PubMedID: 26520282 |
| Title : Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation - Nur_2015_Eur.J.Med.Genet_58_238 |
| Author(s) : Nur BG , Gencpinar P , Yuzbasioglu A , Emre SD , Mihci E |
| Ref : Eur Journal of Medical Genetics , 58 :238 , 2015 |
| Abstract : Nur_2015_Eur.J.Med.Genet_58_238 |
| ESTHER : Nur_2015_Eur.J.Med.Genet_58_238 |
| PubMedSearch : Nur_2015_Eur.J.Med.Genet_58_238 |
| PubMedID: 25682902 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter - Missaglia_2014_BMC.Med.Genet_15_32 |
| Author(s) : Missaglia S , Valadares ER , Moro L , Faguntes ED , Quintao Roque R , Giardina B , Tavian D |
| Ref : BMC Med Genet , 15 :32 , 2014 |
| Abstract : Missaglia_2014_BMC.Med.Genet_15_32 |
| ESTHER : Missaglia_2014_BMC.Med.Genet_15_32 |
| PubMedSearch : Missaglia_2014_BMC.Med.Genet_15_32 |
| PubMedID: 24628803 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5\/CGI-58 gene - Srinivasaraghavan_2014_Pediatr.Dermatol_31_612 |
| Author(s) : Srinivasaraghavan R , Krishnamurthy S , Chandar R , Cassandrini D , Mahadevan S , Bruno C , Santorelli FM |
| Ref : Pediatr Dermatol , 31 :612 , 2014 |
| Abstract : Srinivasaraghavan_2014_Pediatr.Dermatol_31_612 |
| ESTHER : Srinivasaraghavan_2014_Pediatr.Dermatol_31_612 |
| PubMedSearch : Srinivasaraghavan_2014_Pediatr.Dermatol_31_612 |
| PubMedID: 23756328 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6 - |
| Author(s) : Sugiura K , Suga Y , Akiyama M |
| Ref : J Dermatol Sci , 75 :199 , 2014 |
| PubMedID: 24996587 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Chanarin-Dorfman syndrome: clinical report and novel mutation in ABHD5 gene - Tamhankar_2014_J.Postgrad.Med_60_332 |
| Author(s) : Tamhankar PM , Iyer S , Sanghavi S , Khopkar U |
| Ref : J Postgrad Med , 60 :332 , 2014 |
| Abstract : Tamhankar_2014_J.Postgrad.Med_60_332 |
| ESTHER : Tamhankar_2014_J.Postgrad.Med_60_332 |
| PubMedSearch : Tamhankar_2014_J.Postgrad.Med_60_332 |
| PubMedID: 25121381 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Chanarin-dorfman syndrome with multi-system involvement in two siblings - Arslansoyu Camlar_2013_Turk.J.Haematol_30_72 |
| Author(s) : Arslansoyu Camlar S , Gencpinar P , Makay B , Yuzbasioglu A , Arslan N , Emre Dokmeci S , Anal O , Kose G |
| Ref : Turk J Haematol , 30 :72 , 2013 |
| Abstract : Arslansoyu Camlar_2013_Turk.J.Haematol_30_72 |
| ESTHER : Arslansoyu Camlar_2013_Turk.J.Haematol_30_72 |
| PubMedSearch : Arslansoyu Camlar_2013_Turk.J.Haematol_30_72 |
| PubMedID: 24385758 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Novel nonsense mutation of ABHD5 in Dorfman-Chanarin syndrome with unusual findings: a challenge for genotype-phenotype correlation. - Aggarwal_2012_Eur.J.Med.Genet_55_173 |
| Author(s) : Aggarwal S , Maras JS , Alam S , Khanna R , Gupta SK , Ahuja A |
| Ref : Eur Journal of Medical Genetics , 55 :173 , 2012 |
| Abstract : Aggarwal_2012_Eur.J.Med.Genet_55_173 |
| ESTHER : Aggarwal_2012_Eur.J.Med.Genet_55_173 |
| PubMedSearch : Aggarwal_2012_Eur.J.Med.Genet_55_173 |
| PubMedID: 22373837 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation - Cakmak_2012_Clin.Res.Hepatol.Gastroenterol_36_e34 |
| Author(s) : Cakmak E , Alagozlu H , Yonem O , Ataseven H , Citli S , Ozer H |
| Ref : Clin Res Hepatol Gastroenterol , 36 :e34 , 2012 |
| Abstract : Cakmak_2012_Clin.Res.Hepatol.Gastroenterol_36_e34 |
| ESTHER : Cakmak_2012_Clin.Res.Hepatol.Gastroenterol_36_e34 |
| PubMedSearch : Cakmak_2012_Clin.Res.Hepatol.Gastroenterol_36_e34 |
| PubMedID: 22245374 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : CGI-58\/ABHD5-derived signaling lipids regulate systemic inflammation and insulin action - Lord_2012_Diabetes_61_355 |
| Author(s) : Lord CC , Betters JL , Ivanova PT , Milne SB , Myers DS , Madenspacher J , Thomas G , Chung S , Liu M , Davis MA , Lee RG , Crooke RM , Graham MJ , Parks JS , Brasaemle DL , Fessler MB , Brown HA , Brown JM |
| Ref : Diabetes , 61 :355 , 2012 |
| Abstract : Lord_2012_Diabetes_61_355 |
| ESTHER : Lord_2012_Diabetes_61_355 |
| PubMedSearch : Lord_2012_Diabetes_61_355 |
| PubMedID: 22228714 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Beneficial effect of acitretin in Chanarin-Dorfman syndrome - Israeli_2012_Clin.Exp.Dermatol_37_31 |
| Author(s) : Israeli S , Pessach Y , Sarig O , Goldberg I , Sprecher E |
| Ref : Clinical & Experimental Dermatologyatol , 37 :31 , 2012 |
| Abstract : Israeli_2012_Clin.Exp.Dermatol_37_31 |
| ESTHER : Israeli_2012_Clin.Exp.Dermatol_37_31 |
| PubMedSearch : Israeli_2012_Clin.Exp.Dermatol_37_31 |
| PubMedID: 21981352 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family - Samuelov_2011_Br.J.Dermatol_164_1390 |
| Author(s) : Samuelov L , Fuchs-Telem D , Sarig O , Sprecher E |
| Ref : Br J Dermatol , 164 :1390 , 2011 |
| Abstract : Samuelov_2011_Br.J.Dermatol_164_1390 |
| ESTHER : Samuelov_2011_Br.J.Dermatol_164_1390 |
| PubMedSearch : Samuelov_2011_Br.J.Dermatol_164_1390 |
| PubMedID: 21332462 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5 - Cakir_2010_Acta.Paediatr_99_1592 |
| Author(s) : Cakir M , Bruno C , Cansu A , Cobanoglu U , Erduran E |
| Ref : Acta Paediatr , 99 :1592 , 2010 |
| Abstract : Cakir_2010_Acta.Paediatr_99_1592 |
| ESTHER : Cakir_2010_Acta.Paediatr_99_1592 |
| PubMedSearch : Cakir_2010_Acta.Paediatr_99_1592 |
| PubMedID: 20528790 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene - Redaelli_2010_Orphanet.J.Rare.Dis_5_33 |
| Author(s) : Redaelli C , Coleman RA , Moro L , Dacou-Voutetakis C , Elsayed SM , Prati D , Colli A , Mela D , Colombo R , Tavian D |
| Ref : Orphanet J Rare Dis , 5 :33 , 2010 |
| Abstract : Redaelli_2010_Orphanet.J.Rare.Dis_5_33 |
| ESTHER : Redaelli_2010_Orphanet.J.Rare.Dis_5_33 |
| PubMedSearch : Redaelli_2010_Orphanet.J.Rare.Dis_5_33 |
| PubMedID: 21122093 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene - Emre_2010_Eur.J.Med.Genet_53_141 |
| Author(s) : Emre S , Unver N , Evans SE , Yuzbasioglu A , Gurakan F , Gumruk F , Karaduman A |
| Ref : Eur Journal of Medical Genetics , 53 :141 , 2010 |
| Abstract : Emre_2010_Eur.J.Med.Genet_53_141 |
| ESTHER : Emre_2010_Eur.J.Med.Genet_53_141 |
| PubMedSearch : Emre_2010_Eur.J.Med.Genet_53_141 |
| PubMedID: 20307695 |
| Title : Living donor liver transplantation for Dorfman-Chanarin syndrome with 1 year follow-up: case report - Takeda_2010_Transplant.Proc_42_3858 |
| Author(s) : Takeda K , Tanaka K , Kumamoto T , Morioka D , Endo I , Togo S , Shimada H |
| Ref : Transplant Proc , 42 :3858 , 2010 |
| Abstract : Takeda_2010_Transplant.Proc_42_3858 |
| ESTHER : Takeda_2010_Transplant.Proc_42_3858 |
| PubMedSearch : Takeda_2010_Transplant.Proc_42_3858 |
| PubMedID: 21094870 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase - Yamaguchi_2009_Biochim.Biophys.Acta_1791_519 |
| Author(s) : Yamaguchi T , Osumi T |
| Ref : Biochimica & Biophysica Acta , 1791 :519 , 2009 |
| Abstract : Yamaguchi_2009_Biochim.Biophys.Acta_1791_519 |
| ESTHER : Yamaguchi_2009_Biochim.Biophys.Acta_1791_519 |
| PubMedSearch : Yamaguchi_2009_Biochim.Biophys.Acta_1791_519 |
| PubMedID: 19061969 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Clinical and genetic characterization of Chanarin-Dorfman syndrome. - Bruno_2008_Biochem.Biophys.Res.Commun_369_1125 |
| Author(s) : Bruno C , Bertini E , Di Rocco M , Cassandrini D , Ruffa G , De Toni T , Seri M , Spada M , Li Volti G , D'Amico A , Trucco F , Arca M , Casali C , Angelini C , Dimauro S , Minetti C |
| Ref : Biochemical & Biophysical Research Communications , 369 :1125 , 2008 |
| Abstract : Bruno_2008_Biochem.Biophys.Res.Commun_369_1125 |
| ESTHER : Bruno_2008_Biochem.Biophys.Res.Commun_369_1125 |
| PubMedSearch : Bruno_2008_Biochem.Biophys.Res.Commun_369_1125 |
| PubMedID: 18339307 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5 - |
| Author(s) : Badeloe S , van Geel M , Nagtzaam I , Rubio-Gozalbo ME , Oei RL , Steijlen PM , van Steensel MA |
| Ref : Br J Dermatol , 158 :1378 , 2008 |
| PubMedID: 18410411 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Opposed-phase MR imaging of lipid storage myopathy in a case of Chanarin-Dorfman disease - Gaeta_2008_Skeletal.Radiol_37_1053 |
| Author(s) : Gaeta M , Minutoli F , Toscano A , Celona A , Musumeci O , Racchiusa S , Mazziotti S |
| Ref : Skeletal Radiol , 37 :1053 , 2008 |
| Abstract : Gaeta_2008_Skeletal.Radiol_37_1053 |
| ESTHER : Gaeta_2008_Skeletal.Radiol_37_1053 |
| PubMedSearch : Gaeta_2008_Skeletal.Radiol_37_1053 |
| PubMedID: 18682927 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation - Ronchetti_2008_J.Hepatol_49_474 |
| Author(s) : Ronchetti A , Prati D , Pezzotta MG , Tavian D , Colombo R , Callea F , Colli A |
| Ref : Journal of Hepatology , 49 :474 , 2008 |
| Abstract : Ronchetti_2008_J.Hepatol_49_474 |
| ESTHER : Ronchetti_2008_J.Hepatol_49_474 |
| PubMedSearch : Ronchetti_2008_J.Hepatol_49_474 |
| PubMedID: 18644654 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome - |
| Author(s) : Ben Selma Z , Yilmaz S , Schischmanoff PO , Blom A , Ozogul C , Laroche L , Caux F |
| Ref : Journal of Investigative Dermatology , 127 :2273 , 2007 |
| PubMedID: 17495960 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome - Lass_2006_Cell.Metab_3_309 |
| Author(s) : Lass A , Zimmermann R , Haemmerle G , Riederer M , Schoiswohl G , Schweiger M , Kienesberger P , Strauss JG , Gorkiewicz G , Zechner R |
| Ref : Cell Metab , 3 :309 , 2006 |
| Abstract : Lass_2006_Cell.Metab_3_309 |
| ESTHER : Lass_2006_Cell.Metab_3_309 |
| PubMedSearch : Lass_2006_Cell.Metab_3_309 |
| PubMedID: 16679289 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Severe oily ichthyosis in monozygotic twins mimicking Chanarin-Dorfman syndrome but not associated with a mutation of the CGI58 gene - |
| Author(s) : Solomon C , Bernier L , Germain L , Dufour R , Davignon J |
| Ref : Arch Dermatol , 142 :402 , 2006 |
| PubMedID: 16549731 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease - |
| Author(s) : Schleinitz N , Fischer J , Sanchez A , Veit V , Harle JR , Pelissier JF |
| Ref : Arch Dermatol , 141 :798 , 2005 |
| PubMedID: 15967942 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome - Pujol_2005_Br.J.Dermatol_153_838 |
| Author(s) : Pujol RM , Gilaberte M , Toll A , Florensa L , Lloreta J , Gonzalez-Ensenat MA , Fischer J , Azon A |
| Ref : Br J Dermatol , 153 :838 , 2005 |
| Abstract : Pujol_2005_Br.J.Dermatol_153_838 |
| ESTHER : Pujol_2005_Br.J.Dermatol_153_838 |
| PubMedSearch : Pujol_2005_Br.J.Dermatol_153_838 |
| PubMedID: 16181472 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : CGI-58\/ABHD5 gene is mutated in Dorfman-Chanarin syndrome - |
| Author(s) : Caux F , Selma ZB , Laroche L , Prud'homme JF , Fischer J |
| Ref : American Journal of Medicine Genet A , 129A :214 , 2004 |
| PubMedID: 15316960 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : CGI-58 interacts with perilipin and is localized to lipid droplets. Possible involvement of CGI-58 mislocalization in Chanarin-Dorfman syndrome - Yamaguchi_2004_J.Biol.Chem_279_30490 |
| Author(s) : Yamaguchi T , Omatsu N , Matsushita S , Osumi T |
| Ref : Journal of Biological Chemistry , 279 :30490 , 2004 |
| Abstract : Yamaguchi_2004_J.Biol.Chem_279_30490 |
| ESTHER : Yamaguchi_2004_J.Biol.Chem_279_30490 |
| PubMedSearch : Yamaguchi_2004_J.Biol.Chem_279_30490 |
| PubMedID: 15136565 |
| Gene_locus related to this paper: ratno-abhd5 , human-ABHD5 |
| Title : Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation - Srinivasan_2004_J.Pediatr_144_662 |
| Author(s) : Srinivasan R , Hadzic N , Fischer J , Knisely AS |
| Ref : J Pediatr , 144 :662 , 2004 |
| Abstract : Srinivasan_2004_J.Pediatr_144_662 |
| ESTHER : Srinivasan_2004_J.Pediatr_144_662 |
| PubMedSearch : Srinivasan_2004_J.Pediatr_144_662 |
| PubMedID: 15127008 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Dorfman-Chanarin syndrome in Egypt - |
| Author(s) : EI-Kabbany Z , Elsayed SM , Rashad M , Tareef R , Galal N |
| Ref : American Journal of Medicine Genet A , 121A :75 , 2003 |
| PubMedID: 12900907 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome - Akiyama_2003_J.Invest.Dermatol_121_1029 |
| Author(s) : Akiyama M , Sawamura D , Nomura Y , Sugawara M , Shimizu H |
| Ref : Journal of Investigative Dermatology , 121 :1029 , 2003 |
| Abstract : Akiyama_2003_J.Invest.Dermatol_121_1029 |
| ESTHER : Akiyama_2003_J.Invest.Dermatol_121_1029 |
| PubMedSearch : Akiyama_2003_J.Invest.Dermatol_121_1029 |
| PubMedID: 14708602 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Dorfman--Chanarin syndrome (neutral lipid storage disease): new clinical features - |
| Author(s) : Pena-Penabad C , Almagro M , Martinez W , Garcia-Silva J , Del Pozo J , Yebra MT , Sanchez-Manzano C , Fonseca E |
| Ref : Br J Dermatol , 144 :430 , 2001 |
| PubMedID: 11251597 |
| Title : Mutations in CGI-58, the gene encoding a new protein of the esterase\/lipase\/thioesterase subfamily, in Chanarin-Dorfman syndrome - Lefevre_2001_Am.J.Hum.Genet_69_1002 |
| Author(s) : Lefevre C , Jobard F , Caux F , Bouadjar B , Karaduman A , Heilig R , Lakhdar H , Wollenberg A , Verret JL , Weissenbach J , Ozguc M , Lathrop M , Prud'homme JF , Fischer J |
| Ref : American Journal of Human Genetics , 69 :1002 , 2001 |
| Abstract : Lefevre_2001_Am.J.Hum.Genet_69_1002 |
| ESTHER : Lefevre_2001_Am.J.Hum.Genet_69_1002 |
| PubMedSearch : Lefevre_2001_Am.J.Hum.Genet_69_1002 |
| PubMedID: 11590543 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Dorfman-Chanarin syndrome in a Turkish kindred: conductor diagnosis requires analysis of multiple eosinophils - Wollenberg_2000_Acta.Derm.Venereol_80_39 |
| Author(s) : Wollenberg A , Geiger E , Schaller M , Wolff H |
| Ref : Acta Derm Venereol , 80 :39 , 2000 |
| Abstract : Wollenberg_2000_Acta.Derm.Venereol_80_39 |
| ESTHER : Wollenberg_2000_Acta.Derm.Venereol_80_39 |
| PubMedSearch : Wollenberg_2000_Acta.Derm.Venereol_80_39 |
| PubMedID: 10721832 |
| Title : Dorfman-Chanarin syndrome: a rare neutral lipid storage disease - |
| Author(s) : Tullu MS , Muranjan MN , Save SU , Deshmukh CT , Khubchandani SR , Bharucha BA |
| Ref : Indian Pediatr , 37 :88 , 2000 |
| PubMedID: 10745395 |
| Title : [Dorfman-Chanarin syndrome] - Kaassis_1998_Ann.Dermatol.Venereol_125_317 |
| Author(s) : Kaassis C , Ginies JL , Berthelot J , Verret JL |
| Ref : Ann Dermatol Venereol , 125 :317 , 1998 |
| Abstract : Kaassis_1998_Ann.Dermatol.Venereol_125_317 |
| ESTHER : Kaassis_1998_Ann.Dermatol.Venereol_125_317 |
| PubMedSearch : Kaassis_1998_Ann.Dermatol.Venereol_125_317 |
| PubMedID: 9747278 |
| Title : Dorfman-Chanarin syndrome: morphologic studies and presentation of new cases - Srebrnik_1998_Am.J.Dermatopathol_20_79 |
| Author(s) : Srebrnik A , Brenner S , Ilie B , Messer G |
| Ref : Am J Dermatopathol , 20 :79 , 1998 |
| Abstract : Srebrnik_1998_Am.J.Dermatopathol_20_79 |
| ESTHER : Srebrnik_1998_Am.J.Dermatopathol_20_79 |
| PubMedSearch : Srebrnik_1998_Am.J.Dermatopathol_20_79 |
| PubMedID: 9504676 |
| Title : [Dorfman-Chanarin syndrome--a neutral lipid storage disease] - Wollenberg_1997_Hautarzt_48_753 |
| Author(s) : Wollenberg A , Schaller M , Roschinger W , Schirren CG , Wolff H |
| Ref : Hautarzt , 48 :753 , 1997 |
| Abstract : Wollenberg_1997_Hautarzt_48_753 |
| ESTHER : Wollenberg_1997_Hautarzt_48_753 |
| PubMedSearch : Wollenberg_1997_Hautarzt_48_753 |
| PubMedID: 9441170 |
| Title : Dorfman-Chanarin syndrome: a case with prevalent hepatic involvement - Mela_1996_J.Hepatol_25_769 |
| Author(s) : Mela D , Artom A , Goretti R , Varagona G , Riolfo M , Ardoino S , Sanguineti G , Vitali A , Ricciardi S |
| Ref : Journal of Hepatology , 25 :769 , 1996 |
| Abstract : Mela_1996_J.Hepatol_25_769 |
| ESTHER : Mela_1996_J.Hepatol_25_769 |
| PubMedSearch : Mela_1996_J.Hepatol_25_769 |
| PubMedID: 8938558 |
| Title : Dorfman-Chanarin syndrome (neutral lipid storage disease). A case report - Banuls_1994_Clin.Exp.Dermatol_19_434 |
| Author(s) : Banuls J , Betlloch I , Botella R , Sevila A , Morell A , Roman P |
| Ref : Clinical & Experimental Dermatologyatol , 19 :434 , 1994 |
| Abstract : Banuls_1994_Clin.Exp.Dermatol_19_434 |
| ESTHER : Banuls_1994_Clin.Exp.Dermatol_19_434 |
| PubMedSearch : Banuls_1994_Clin.Exp.Dermatol_19_434 |
| PubMedID: 7955510 |
| Title : Multisystem triglyceride storage disorder without ichthyosis in two siblings - Wessalowski_1994_Acta.Paediatr_83_93 |
| Author(s) : Wessalowski R , Schroten H , Neuen-Jacob E , Reichmann H , Melnik BC , Lenard HG , Voit T |
| Ref : Acta Paediatr , 83 :93 , 1994 |
| Abstract : Wessalowski_1994_Acta.Paediatr_83_93 |
| ESTHER : Wessalowski_1994_Acta.Paediatr_83_93 |
| PubMedSearch : Wessalowski_1994_Acta.Paediatr_83_93 |
| PubMedID: 8193482 |
| Title : [Ichthyosis with neutral lipid storage: Dorfman-Chanarin syndrome. Apropos of a familial case] - |
| Author(s) : Venencie PY , Pauwels C , Rekik A , Mielot F , Hadchouel M , Odievre M |
| Ref : Ann Dermatol Venereol , 120 :758 , 1993 |
| PubMedID: 8210101 |
| Title : Neutral lipid storage disease: a possible functional defect in phospholipid- linked triacylglycerol metabolism - Williams_1991_Biochim.Biophys.Acta_1096_162 |
| Author(s) : Williams ML , Coleman RA , Placezk D , Grunfeld C |
| Ref : Biochimica & Biophysica Acta , 1096 :162 , 1991 |
| Abstract : Williams_1991_Biochim.Biophys.Acta_1096_162 |
| ESTHER : Williams_1991_Biochim.Biophys.Acta_1096_162 |
| PubMedSearch : Williams_1991_Biochim.Biophys.Acta_1096_162 |
| PubMedID: 2001430 |
| Title : Ichthyosis and neutral lipid storage disease (Dorfman-Chanarin syndrome) - Venencie_1988_Pediatr.Dermatol_5_173 |
| Author(s) : Venencie PY , Armengaud D , Foldes C , Vieillefond A , Coulombel L , Hadchouel M |
| Ref : Pediatr Dermatol , 5 :173 , 1988 |
| Abstract : Venencie_1988_Pediatr.Dermatol_5_173 |
| ESTHER : Venencie_1988_Pediatr.Dermatol_5_173 |
| PubMedSearch : Venencie_1988_Pediatr.Dermatol_5_173 |
| PubMedID: 3205858 |
| Title : Value of looking at leukocytes in every case of ichthyosis - Wolf_1988_Dermatologica_177_237 |
| Author(s) : Wolf R , Zaritzky A , Pollak S |
| Ref : Dermatologica , 177 :237 , 1988 |
| Abstract : Wolf_1988_Dermatologica_177_237 |
| ESTHER : Wolf_1988_Dermatologica_177_237 |
| PubMedSearch : Wolf_1988_Dermatologica_177_237 |
| PubMedID: 3224731 |
| Title : Ichthyosis and neutral lipid storage disease - Musumeci_1988_Am.J.Med.Genet_29_377 |
| Author(s) : Musumeci S , D'Agata A , Romano C , Patane R , Cutrona D |
| Ref : American Journal of Medicine Genet , 29 :377 , 1988 |
| Abstract : Musumeci_1988_Am.J.Med.Genet_29_377 |
| ESTHER : Musumeci_1988_Am.J.Med.Genet_29_377 |
| PubMedSearch : Musumeci_1988_Am.J.Med.Genet_29_377 |
| PubMedID: 3354610 |
| Title : Dorfman-Chanarin syndrome. A case report and a review - Srebrnik_1987_J.Am.Acad.Dermatol_17_801 |
| Author(s) : Srebrnik A , Tur E , Perluk C , Elman M , Messer G , Ilie B , Krakowski A |
| Ref : J Am Acad Dermatol , 17 :801 , 1987 |
| Abstract : Srebrnik_1987_J.Am.Acad.Dermatol_17_801 |
| ESTHER : Srebrnik_1987_J.Am.Acad.Dermatol_17_801 |
| PubMedSearch : Srebrnik_1987_J.Am.Acad.Dermatol_17_801 |
| PubMedID: 3316318 |
| Title : Neutral lipid storage disease with ichthyosis. Defective lamellar body contents and intracellular dispersion - Elias_1985_Arch.Dermatol_121_1000 |
| Author(s) : Elias PM , Williams ML |
| Ref : Arch Dermatol , 121 :1000 , 1985 |
| Abstract : Elias_1985_Arch.Dermatol_121_1000 |
| ESTHER : Elias_1985_Arch.Dermatol_121_1000 |
| PubMedSearch : Elias_1985_Arch.Dermatol_121_1000 |
| PubMedID: 4026335 |
| Title : Neutral-lipid storage disease: a new disorder of lipid metabolism - |
| Author(s) : Chanarin I , Patel A , Slavin G , Wills EJ , Andrews TM , Stewart G |
| Ref : British Medical Journal , 1 :553 , 1975 |
| PubMedID: 1139147 |
| Title : Ichthyosiform dermatosis with systemic lipidosis - |
| Author(s) : Dorfman ML , Hershko C , Eisenberg S , Sagher F |
| Ref : Arch Dermatol , 110 :261 , 1974 |
| PubMedID: 4277517 |