CDS
MCID: CHN055
MIFTS: 49

Chanarin-Dorfman Syndrome (CDS) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Metabolic diseases

Aliases & Classifications for Chanarin-Dorfman Syndrome

Aliases & Descriptions for Chanarin-Dorfman Syndrome:

Name: Chanarin-Dorfman Syndrome 54 12 50 24 25 66 13
Triglyceride Storage Disease with Impaired Long-Chain Fatty Acid Oxidation 50 24 25 66
Neutral Lipid Storage Disease with Ichthyosis 24 25 56 66
Triglyceride Storage Disease with Ichthyosis 25 29 69
Neutral Lipid Storage Disease 12 52 14
Cds 50 25 66
Ichthyosiform Erythroderma with Leukocyte Vacuolation 50 66
Ichthyotic Neutral Lipid Storage Disease 25 66
Chanarin-Dorfman Disease 50 25
Nlsdi 50 56
Dcs 50 66
Neutral Lipid Storage Disease with Ichthyotic 50
Disorder of Cornification 12 50
Dorfman Chanarin Syndrome 50
Dorfman-Chanarin Syndrome 66
Dorfman-Chanarin Disease 56

Characteristics:

Orphanet epidemiological data:

56
dorfman-chanarin disease
Inheritance: Autosomal recessive;

HPO:

32
chanarin-dorfman syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 275630
Disease Ontology 12 DOID:0050729
Orphanet 56 ORPHA98907
ICD10 via Orphanet 34 E75.5
MedGen 40 C0268238

Summaries for Chanarin-Dorfman Syndrome

NIH Rare Diseases : 50 chanarin-dorfman syndrome is an inherited condition in which fats are stored abnormally in the body. affected individuals cannot break down certain fats called triglycerides. these fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. at birth, affected individuals usually present with dry, scaly skin. additional features include an enlarged liver,cataracts, difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness, nystagmus, and mild intellectual disability. the signs and symptoms vary greatly among individuals with this condition. some people may have ichthyosis only, while others may have problems affecting many areas of the body. this condition is caused by mutations in the abhd5 gene and is inherited in an autosomal recessive pattern. last updated: 4/22/2011

MalaCards based summary : Chanarin-Dorfman Syndrome, also known as triglyceride storage disease with impaired long-chain fatty acid oxidation, is related to neutral lipid storage disease with myopathy and ichthyosis, congenital, autosomal recessive 1, and has symptoms including ataxia, muscle weakness and nystagmus. An important gene associated with Chanarin-Dorfman Syndrome is ABHD5 (Abhydrolase Domain Containing 5), and among its related pathways/superpathways are Metabolism and PPAR signaling pathway. The drugs Bezafibrate and Clofibric Acid have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and eye, and related phenotypes are growth/size/body region and integument

Disease Ontology : 12 A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.

Genetics Home Reference : 25 Chanarin-Dorfman syndrome is a condition in which fats (lipids) are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides, and these fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. People with this condition also have dry, scaly skin (ichthyosis), which is usually present at birth. Additional features of this condition include an enlarged liver (hepatomegaly), clouding of the lens of the eyes (cataracts), difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness (myopathy), involuntary movement of the eyes (nystagmus), and mild intellectual disability.

UniProtKB/Swiss-Prot : 66 Chanarin-Dorfman syndrome: An autosomal recessive inborn error of lipid metabolism with multisystemic accumulation of triglycerides although plasma concentrations are normal. Clinical characteristics are congenital generalized ichthyosis, vacuolated leukocytes, hepatomegaly, myopathy, cataracts, neurosensory hearing loss and developmental delay. The disorder presents at birth with generalized, fine, white scaling of the skin and a variable degree of erythema resembling non-bullous congenital ichthyosiform erythroderma.

Description from OMIM: 275630

Related Diseases for Chanarin-Dorfman Syndrome

Graphical network of the top 20 diseases related to Chanarin-Dorfman Syndrome:



Diseases related to Chanarin-Dorfman Syndrome

Symptoms & Phenotypes for Chanarin-Dorfman Syndrome

Symptoms by clinical synopsis from OMIM:

275630

Clinical features from OMIM:

275630

Human phenotypes related to Chanarin-Dorfman Syndrome:

32 (show all 16)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 muscle weakness 32 HP:0001324
3 nystagmus 32 HP:0000639
4 intellectual disability 32 HP:0001249
5 hepatomegaly 32 HP:0002240
6 microtia 32 HP:0008551
7 sensorineural hearing impairment 32 HP:0000407
8 myopathy 32 HP:0003198
9 strabismus 32 HP:0000486
10 everted lower lip vermilion 32 HP:0000232
11 hepatic steatosis 32 HP:0001397
12 alopecia 32 HP:0001596
13 abnormality of blood and blood-forming tissues 32 HP:0001871
14 ectropion 32 HP:0000656
15 congenital nonbullous ichthyosiform erythroderma 32 HP:0007479
16 subcapsular cataract 32 HP:0000523

UMLS symptoms related to Chanarin-Dorfman Syndrome:


ataxia, muscle weakness

MGI Mouse Phenotypes related to Chanarin-Dorfman Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.63 ABCA12 ABHD5 PLIN1 PLIN2 PNPLA2 PNPLA8
2 integument MP:0010771 9.35 ABCA12 ABHD5 PLIN1 PLIN2 PNPLA2
3 liver/biliary system MP:0005370 8.92 ABHD5 PLIN1 PLIN2 PNPLA2

Drugs & Therapeutics for Chanarin-Dorfman Syndrome

Drugs for Chanarin-Dorfman Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved Phase 4 41859-67-0 39042
2 Clofibric Acid Phase 4 882-09-7
3 Hypolipidemic Agents Phase 4
4 Anticholesteremic Agents Phase 4
5 Lipid Regulating Agents Phase 4
6 Antimetabolites Phase 4
7 Liver Extracts Phase 2, Phase 3
8 Pharmaceutical Solutions

Interventional clinical trials:


id Name Status NCT ID Phase
1 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4
2 SurVival of Lysosomal Acid Lipase Deficiency (LAL-D) Infants Treated With SebelipAse aLfa Active, not recruiting NCT01371825 Phase 2, Phase 3
3 Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Terminated NCT01473875 Phase 2, Phase 3
4 Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Active, not recruiting NCT02193867 Phase 2
5 International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases Recruiting NCT02918032
6 Clinical Study on the Safety of CNT-02 for TGCV and NLSD-M Recruiting NCT02830763
7 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269

Search NIH Clinical Center for Chanarin-Dorfman Syndrome

Genetic Tests for Chanarin-Dorfman Syndrome

Genetic tests related to Chanarin-Dorfman Syndrome:

id Genetic test Affiliating Genes
1 Triglyceride Storage Disease with Ichthyosis 29
2 Chanarin-Dorfman Syndrome 24 ABHD5

Anatomical Context for Chanarin-Dorfman Syndrome

MalaCards organs/tissues related to Chanarin-Dorfman Syndrome:

39
Skin, Liver, Eye

Publications for Chanarin-Dorfman Syndrome

Articles related to Chanarin-Dorfman Syndrome:

(show all 35)
id Title Authors Year
1
Chanarin-Dorfman Syndrome. ( 27671187 )
2016
2
ABHD5/CGI-58, the Chanarin-Dorfman Syndrome Protein, Mobilises Lipid Stores for Hepatitis C Virus Production. ( 27124600 )
2016
3
Chanarin Dorfman Syndrome with rare renal involvement. ( 27858988 )
2016
4
Cerebral lipid accumulation in Chanarin-Dorfman Syndrome. ( 25468645 )
2015
5
Congenital ichtyosis and hetomegaly: Think about Chanarin Dorfman syndrome. ( 26757512 )
2015
6
Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation. ( 25682902 )
2015
7
Chanarin-Dorfman syndrome: A case report and review of the literature. ( 26520282 )
2015
8
Education and imaging. Hepatology: Chanarin-Dorfman syndrome, a rare cause of fatty liver and steatohepatitis. ( 25865863 )
2015
9
Chanarin Dorfman syndrome: a case report with novel nonsense mutation. ( 26353074 )
2015
10
Chanarin-Dorfman syndrome: a novel mutation in a Turkish girl. ( 26701953 )
2015
11
Chanarin-Dorfman syndrome: clinical report and novel mutation in ABHD5 gene. ( 25121381 )
2014
12
Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter. ( 24628803 )
2014
13
Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5/CGI-58 gene. ( 23756328 )
2014
14
Chanarin-Dorfman syndrome in three siblings in a non-consanguineous family. ( 25087691 )
2014
15
Chanarin-dorfman syndrome with multi-system involvement in two siblings. ( 24385758 )
2013
16
Beneficial effect of acitretin in Chanarin-Dorfman syndrome. ( 21981352 )
2012
17
Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation. ( 22245374 )
2012
18
A rare cause of Fatty liver and elevated aminotransferase levels: chanarin-dorfman syndrome: a case report. ( 21994851 )
2011
19
Jordan's anomaly in a case of Chanarin-Dorfman syndrome. ( 21689090 )
2011
20
An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family. ( 21332462 )
2011
21
Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene. ( 21122093 )
2010
22
Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5. ( 20528790 )
2010
23
Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene. ( 20307695 )
2010
24
Chanarin-Dorfman syndrome: clinical features of a rare lipid metabolism disorder. ( 19250403 )
2009
25
Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase. ( 19061969 )
2009
26
CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid. ( 18606822 )
2008
27
Chanarin-Dorfman syndrome with eccrine gland vacuolation: a case report. ( 19126011 )
2008
28
Clinical and genetic characterization of Chanarin-Dorfman syndrome. ( 18339307 )
2008
29
Severe oily ichthyosis in monozygotic twins mimicking Chanarin-Dorfman syndrome but not associated with a mutation of the CGI58 gene. ( 16549731 )
2006
30
Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome). ( 16741516 )
2006
31
Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome. ( 16679289 )
2006
32
Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease. ( 15967942 )
2005
33
Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome. ( 16181472 )
2005
34
CGI-58 interacts with perilipin and is localized to lipid droplets. Possible involvement of CGI-58 mislocalization in Chanarin-Dorfman syndrome. ( 15136565 )
2004
35
Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. ( 11590543 )
2001

Variations for Chanarin-Dorfman Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Chanarin-Dorfman Syndrome:

66
id Symbol AA change Variation ID SNP ID
1 ABHD5 p.Glu7Lys VAR_023387 rs104893676
2 ABHD5 p.Gln130Pro VAR_023388 rs28939077
3 ABHD5 p.Glu260Lys VAR_023389 rs28939078
4 ABHD5 p.Ser115Gly VAR_057954

ClinVar genetic disease variations for Chanarin-Dorfman Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ABHD5 ABHD5, IVS6, G-A, -1 single nucleotide variant Pathogenic
2 ABHD5 NM_016006.4(ABHD5): c.98C> G (p.Ser33Ter) single nucleotide variant Pathogenic rs104893675 GRCh37 Chromosome 3, 43740818: 43740818
3 ABHD5 ABHD5, IVS3, A-G, -2 single nucleotide variant Pathogenic
4 ABHD5 NM_016006.4(ABHD5): c.389A> C (p.Gln130Pro) single nucleotide variant Pathogenic rs28939077 GRCh37 Chromosome 3, 43743962: 43743962
5 ABHD5 NM_016006.4(ABHD5): c.19G> A (p.Glu7Lys) single nucleotide variant Pathogenic rs104893676 GRCh37 Chromosome 3, 43732503: 43732503
6 ABHD5 NM_016006.4(ABHD5): c.594dupC (p.Arg199Glnfs) duplication Pathogenic rs387906335 GRCh37 Chromosome 3, 43753288: 43753288
7 ABHD5 NM_016006.4(ABHD5): c.778G> A (p.Glu260Lys) single nucleotide variant Pathogenic rs28939078 GRCh37 Chromosome 3, 43759167: 43759167
8 ABHD5 NM_016006.4(ABHD5): c.46_47delAG (p.Arg16Valfs) deletion Pathogenic rs387906336 GRCh37 Chromosome 3, 43732530: 43732531

Expression for Chanarin-Dorfman Syndrome

Search GEO for disease gene expression data for Chanarin-Dorfman Syndrome.

Pathways for Chanarin-Dorfman Syndrome

Pathways related to Chanarin-Dorfman Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.13 AADAC ABHD5 ETFDH PLIN1 PLIN2 PNPLA2
2 11.01 PLIN1 PLIN2
3 10.53 ABHD5 PLIN1 PNPLA2

GO Terms for Chanarin-Dorfman Syndrome

Cellular components related to Chanarin-Dorfman Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.26 AADAC PLIN1 PLIN2 PNPLA8
2 lipid particle GO:0005811 8.92 ABHD5 PLIN1 PLIN2 PNPLA2

Biological processes related to Chanarin-Dorfman Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.58 AADAC PNPLA2 PNPLA8
2 lipid metabolic process GO:0006629 9.56 ABHD5 PLIN1 PNPLA2 PNPLA8
3 lipid homeostasis GO:0055088 9.37 ABCA12 PNPLA2
4 lipid catabolic process GO:0016042 9.33 PLIN1 PNPLA2 PNPLA8
5 lipid storage GO:0019915 9.32 PLIN2 PNPLA2
6 negative regulation of sequestering of triglyceride GO:0010891 8.96 ABHD5 PNPLA2
7 positive regulation of triglyceride catabolic process GO:0010898 8.8 AADAC ABHD5 PNPLA2

Molecular functions related to Chanarin-Dorfman Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 triglyceride lipase activity GO:0004806 8.8 AADAC ABHD5 PNPLA2

Sources for Chanarin-Dorfman Syndrome

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11 DGIdb
16 ExPASy
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65 SNOMED-CT via Orphanet
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70 UMLS via Orphanet
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