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Disease Report for: Chanarin-Dorfman syndrome

Alternative name(s)|Triglyceride storage disease with impaired long-chain fatty acid oxidation (275630)
Ichthyolitic neutral lipid storage disease
neutral lipid storage disease
Dorfman-Chanarin syndrome
Ichthyosiform erythroderma with leukocyte vacuolation
Congenital ichthyosiform erythroderma (CIE)
Mutation|44 mutations (e.g. : A321VfsX10_human-ABHD5, C99X_human-ABHD5, E260K_human-ABHD5... more)
OMIM: |604780, 275630

(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.). But NLSMD do not show ichtyolisis and in NLSDI myopathy is milder. However ABDH5 interacts and activates ATGL (Yamaguchi et al.). 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.)

    Title: Chanarin-Dorfman Syndrome: A comprehensive review
    Cakmak E, Bagci G
    Ref: Liver Int, 41:905, 2021 : PubMed


    Title: Two cases of Chanarin-Dorfman syndrome with novel and recurrent mutations in the ABHD5 gene
    Jiang X, Zhong W, Yu B, Lin Z, Wang H
    Ref: Int J Dermatol, :, 2021 : PubMed


    Title: Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome
    Tavian D, Durdu M, Angelini C, Torre E, Missaglia S
    Ref: Eur J Transl Myol, :, 2021 : PubMed


    Title: Two cases of non-alcoholic fatty liver disease caused by biallelic ABHD5 mutations
    Adant I, Declercq M, Bird M, Bauters M, Boeckx N, Devriendt K, Cassiman D, Witters P
    Ref: Journal of Hepatology, 72:1030, 2020 : PubMed


    Title: Chanarin-Dorfman syndrome: a novel homozygous mutation in the ABHD5 gene
    Al-Hage J, Abbas O, Nemer G, Kurban M
    Ref: Clinical & Experimental Dermatologyatol, 45:257, 2020 : PubMed


    Title: A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings
    Eskiocak AH, Missaglia S, Moro L, Durdu M, Tavian D
    Ref: Lipids Health Dis, 18:232, 2019 : PubMed


    Title: Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene
    Louhichi N, Bahloul E, Marrakchi S, Othman HB, Triki C, Aloulou K, Trabelsi L, Mahfouth N, Ayadi-Mnif Z and Turki H <2 more author(s)>
    Ref: Orphanet J Rare Dis, 14:112, 2019 : PubMed


    Title: Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function
    Missaglia S, Coleman RA, Mordente A, Tavian D
    Ref: Cells, 8:, 2019 : PubMed


    Title: Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations
    Youssefian L, Vahidnezhad H, Saeidian AH, Pajouhanfar S, Sotoudeh S, Mansouri P, Amirkashani D, Zeinali S, Levine MA and Uitto J <2 more author(s)>
    Ref: Journal of Hepatology, 71:366, 2019 : PubMed


    Title: Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents
    Durdu M, Missaglia S, Moro L, Tavian D
    Ref: BMC Med Genet, 19:88, 2018 : PubMed


    Title: A New Case of Chanarin-Dorfman Syndrome with a Novel Deletion in ABHD5 Gene
    Nakhaei S, Heidary H, Rahimian A, Vafadar M, Rohani F, Bahoosh GR, Amirkashani D
    Ref: Iran Biomed J, 22:415, 2018 : PubMed


    Title: An unusual presentation of LCAT deficiency as nephrotic syndrome with normal serum HDL-C level
    Balwani MR, Ghodela VA, Kute VB, Shah PR, Patel HV, Gera DN, Vanikar A, Trivedi HL
    Ref: J Nephropharmacol, 6:23, 2017 : PubMed


    Title: Chanarin-Dorfman syndrome
    Demir B, Sen A, Bilik L, Deveci U, Ozercan IH, Cicek D, Dogan Y
    Ref: Clinical & Experimental Dermatologya, 42:699, 2017 : PubMed


    Title: Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients
    Pennisi EM, Arca M, Bertini E, Bruno C, Cassandrini D, D'Amico A, Garibaldi M, Gragnani F, Maggi L and Angelini C <10 more author(s)>
    Ref: Orphanet J Rare Dis, 12:90, 2017 : PubMed


    Title: Molecular Basis of ABHD5 Lipolysis Activation
    Sanders MA, Zhang H, Mladenovic L, Tseng YY, Granneman JG
    Ref: Sci Rep, 7:42589, 2017 : PubMed


    Title: Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families
    Shah K, Mehmood S, Jan A, Abbe I, Hussain Ali R, Khan A, Chishti MS, Lee K, Ahmad F and Ahmad W <8 more author(s)>
    Ref: Int J Dermatol, 56:1406, 2017 : PubMed


    Title: Chanarin-Dorfman syndrome with rare renal involvement
    Verma SB, Mittal A, Wollina U, Eckstein GH, Gohel K, Giehl K
    Ref: Br J Dermatol, 176:545, 2017 : PubMed


    Title: Chanarin-Dorfman syndrome in three siblings in a non-consanguineous family
    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 : PubMed


    Title: Chanarin Dorfman syndrome: a case report with novel nonsense mutation
    Gupta N, Gothwal S, Satpathy AK, Missaglia S, Tavian D, Das P, Timila D, Kabra M
    Ref: Gene, 575:359, 2016 : PubMed


    Title: Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients
    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 : PubMed


    Title: Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome
    Takeichi T, Sugiura K, Tso S, Simpson MA, McGrath JA, Akiyama M
    Ref: J Dermatol Sci, 81:134, 2016 : PubMed


    Title: ABHD5/CGI-58, the Chanarin-Dorfman Syndrome Protein, Mobilises Lipid Stores for Hepatitis C Virus Production
    Vieyres G, Welsch K, Gerold G, Gentzsch J, Kahl S, Vondran FW, Kaderali L, Pietschmann T
    Ref: PLoS Pathog, 12:e1005568, 2016 : PubMed


    Title: Chanarin-Dorfman Syndrome
    Waheed N, Cheema HA, Suleman H, Mushtaq I, Fayyaz Z
    Ref: J Coll Physicians Surg Pak, 26:787, 2016 : PubMed


    Title: [Chanarin-Dorfman syndrome in a 7-year-old child: when myophathy and skin involvement are all but one]
    Barnerias C, Bassez G, Schischmanoff O
    Ref: Med Sci (Paris), 31 Spec No 3:11, 2015 : PubMed


    Title: Congenital ichtyosis and hetomegaly: Think about Chanarin Dorfman syndrome
    Ben Ameur S, Aloulou H, Wali M, Alibi S, Chaari M, Kallel C, Kamoun T, Hachicha M
    Ref: Tunis Med, 93:482, 2015 : PubMed


    Title: Chanarin-Dorfman syndrome: A case report and review of the literature
    Mogahed EA, El-Hennawy A, El-Sayed R, El-Karaksy H
    Ref: Arab J Gastroenterol, 16:142, 2015 : PubMed


    Title: Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation
    Nur BG, Gencpinar P, Yuzbasioglu A, Emre SD, Mihci E
    Ref: Eur Journal of Medical Genetics, 58:238, 2015 : PubMed


    Title: Chanarin-Dorfman syndrome: a novel mutation in a Turkish girl
    Unlusoy Aksu A, Sari S, Egritas Gurkan O, Dalgic B
    Ref: Turk J Pediatr, 57:300, 2015 : PubMed


    Title: Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter
    Missaglia S, Valadares ER, Moro L, Faguntes ED, Quintao Roque R, Giardina B, Tavian D
    Ref: BMC Med Genet, 15:32, 2014 : PubMed


    Title: Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5/CGI-58 gene
    Srinivasaraghavan R, Krishnamurthy S, Chandar R, Cassandrini D, Mahadevan S, Bruno C, Santorelli FM
    Ref: Pediatr Dermatol, 31:612, 2014 : PubMed


    Title: Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6
    Sugiura K, Suga Y, Akiyama M
    Ref: J Dermatol Sci, 75:199, 2014 : PubMed


    Title: Chanarin-Dorfman syndrome: clinical report and novel mutation in ABHD5 gene
    Tamhankar PM, Iyer S, Sanghavi S, Khopkar U
    Ref: J Postgrad Med, 60:332, 2014 : PubMed


    Title: Chanarin-dorfman syndrome with multi-system involvement in two siblings
    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 : PubMed


    Title: Novel nonsense mutation of ABHD5 in Dorfman-Chanarin syndrome with unusual findings: a challenge for genotype-phenotype correlation.
    Aggarwal S, Maras JS, Alam S, Khanna R, Gupta SK, Ahuja A
    Ref: Eur Journal of Medical Genetics, 55:173, 2012 : PubMed


    Title: Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation
    Cakmak E, Alagozlu H, Yonem O, Ataseven H, Citli S, Ozer H
    Ref: Clin Res Hepatol Gastroenterol, 36:e34, 2012 : PubMed


    Title: Beneficial effect of acitretin in Chanarin-Dorfman syndrome
    Israeli S, Pessach Y, Sarig O, Goldberg I, Sprecher E
    Ref: Clinical & Experimental Dermatologyatol, 37:31, 2012 : PubMed


    Title: CGI-58/ABHD5-derived signaling lipids regulate systemic inflammation and insulin action
    Lord CC, Betters JL, Ivanova PT, Milne SB, Myers DS, Madenspacher J, Thomas G, Chung S, Liu M and Brown JM <8 more author(s)>
    Ref: Diabetes, 61:355, 2012 : PubMed


    Title: An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family
    Samuelov L, Fuchs-Telem D, Sarig O, Sprecher E
    Ref: Br J Dermatol, 164:1390, 2011 : PubMed


    Title: Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5
    Cakir M, Bruno C, Cansu A, Cobanoglu U, Erduran E
    Ref: Acta Paediatr, 99:1592, 2010 : PubMed


    Title: Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene
    Emre S, Unver N, Evans SE, Yuzbasioglu A, Gurakan F, Gumruk F, Karaduman A
    Ref: Eur Journal of Medical Genetics, 53:141, 2010 : PubMed


    Title: Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene
    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 : PubMed


    Title: Living donor liver transplantation for Dorfman-Chanarin syndrome with 1 year follow-up: case report
    Takeda K, Tanaka K, Kumamoto T, Morioka D, Endo I, Togo S, Shimada H
    Ref: Transplant Proc, 42:3858, 2010 : PubMed


    Title: Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase
    Yamaguchi T, Osumi T
    Ref: Biochimica & Biophysica Acta, 1791:519, 2009 : PubMed


    Title: Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5
    Badeloe S, van Geel M, Nagtzaam I, Rubio-Gozalbo ME, Oei RL, Steijlen PM, van Steensel MA
    Ref: Br J Dermatol, 158:1378, 2008 : PubMed


    Title: Clinical and genetic characterization of Chanarin-Dorfman syndrome.
    Bruno C, Bertini E, Di Rocco M, Cassandrini D, Ruffa G, De Toni T, Seri M, Spada M, Li Volti G and Minetti C <6 more author(s)>
    Ref: Biochemical & Biophysical Research Communications, 369:1125, 2008 : PubMed


    Title: Opposed-phase MR imaging of lipid storage myopathy in a case of Chanarin-Dorfman disease
    Gaeta M, Minutoli F, Toscano A, Celona A, Musumeci O, Racchiusa S, Mazziotti S
    Ref: Skeletal Radiol, 37:1053, 2008 : PubMed


    Title: Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation
    Ronchetti A, Prati D, Pezzotta MG, Tavian D, Colombo R, Callea F, Colli A
    Ref: Journal of Hepatology, 49:474, 2008 : PubMed


    Title: A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome
    Ben Selma Z, Yilmaz S, Schischmanoff PO, Blom A, Ozogul C, Laroche L, Caux F
    Ref: Journal of Investigative Dermatology, 127:2273, 2007 : PubMed


    Title: Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome
    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 : PubMed


    Title: Severe oily ichthyosis in monozygotic twins mimicking Chanarin-Dorfman syndrome but not associated with a mutation of the CGI58 gene
    Solomon C, Bernier L, Germain L, Dufour R, Davignon J
    Ref: Arch Dermatol, 142:402, 2006 : PubMed


    Title: Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome
    Pujol RM, Gilaberte M, Toll A, Florensa L, Lloreta J, Gonzalez-Ensenat MA, Fischer J, Azon A
    Ref: Br J Dermatol, 153:838, 2005 : PubMed


    Title: Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease
    Schleinitz N, Fischer J, Sanchez A, Veit V, Harle JR, Pelissier JF
    Ref: Arch Dermatol, 141:798, 2005 : PubMed


    Title: CGI-58/ABHD5 gene is mutated in Dorfman-Chanarin syndrome
    Caux F, Selma ZB, Laroche L, Prud'homme JF, Fischer J
    Ref: American Journal of Medicine Genet A, 129A:214, 2004 : PubMed


    Title: Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation
    Srinivasan R, Hadzic N, Fischer J, Knisely AS
    Ref: J Pediatr, 144:662, 2004 : PubMed


    Title: CGI-58 interacts with perilipin and is localized to lipid droplets. Possible involvement of CGI-58 mislocalization in Chanarin-Dorfman syndrome
    Yamaguchi T, Omatsu N, Matsushita S, Osumi T
    Ref: Journal of Biological Chemistry, 279:30490, 2004 : PubMed


    Title: Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome
    Akiyama M, Sawamura D, Nomura Y, Sugawara M, Shimizu H
    Ref: Journal of Investigative Dermatology, 121:1029, 2003 : PubMed


    Title: Dorfman-Chanarin syndrome in Egypt
    EI-Kabbany Z, Elsayed SM, Rashad M, Tareef R, Galal N
    Ref: American Journal of Medicine Genet A, 121A:75, 2003 : PubMed


    Title: Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome
    Lefevre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL and Fischer J <4 more author(s)>
    Ref: American Journal of Human Genetics, 69:1002, 2001 : PubMed


    Title: Dorfman--Chanarin syndrome (neutral lipid storage disease): new clinical features
    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 : PubMed


    Title: Dorfman-Chanarin syndrome: a rare neutral lipid storage disease
    Tullu MS, Muranjan MN, Save SU, Deshmukh CT, Khubchandani SR, Bharucha BA
    Ref: Indian Pediatr, 37:88, 2000 : PubMed


    Title: Dorfman-Chanarin syndrome in a Turkish kindred: conductor diagnosis requires analysis of multiple eosinophils
    Wollenberg A, Geiger E, Schaller M, Wolff H
    Ref: Acta Derm Venereol, 80:39, 2000 : PubMed


    Title: [Dorfman-Chanarin syndrome]
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    Ref: Ann Dermatol Venereol, 125:317, 1998 : PubMed


    Title: Dorfman-Chanarin syndrome: morphologic studies and presentation of new cases
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    Title: Dorfman-Chanarin syndrome: a case with prevalent hepatic involvement
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    Title: Multisystem triglyceride storage disorder without ichthyosis in two siblings
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    Title: Neutral-lipid storage disease: a new disorder of lipid metabolism
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