MCID: CHN055
MIFTS: 51

Chanarin-Dorfman Syndrome

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

Aliases & Classifications for Chanarin-Dorfman Syndrome

MalaCards integrated aliases for Chanarin-Dorfman Syndrome:

Name: Chanarin-Dorfman Syndrome 53 12 49 24 71 13
Triglyceride Storage Disease with Impaired Long-Chain Fatty Acid Oxidation 53 49 24 71
Neutral Lipid Storage Disease with Ichthyosis 53 24 55 71
Cds 53 49 24 71
Ichthyosiform Erythroderma with Leukocyte Vacuolation 53 49 71
Triglyceride Storage Disease with Ichthyosis 24 28 69
Ichthyotic Neutral Lipid Storage Disease 53 24 71
Neutral Lipid Storage Disease 12 51 14
Dorfman-Chanarin Syndrome 53 71 36
Chanarin-Dorfman Disease 53 49 24
Nlsdi 53 49 55
Dcs 53 49 71
Neutral Lipid Storage Disease with Ichthyosis; Nlsdi 53
Neutral Lipid Storage Disease with Ichthyotic 49
Dorfman-Chanarin Syndrome; Dcs 53
Disorder of Cornification 12 49
Dorfman Chanarin Syndrome 49
Dorfman-Chanarin Disease 55

Characteristics:

Orphanet epidemiological data:

55
dorfman-chanarin disease
Inheritance: Autosomal recessive;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
majority of cases from middle eastern countries


HPO:

31
chanarin-dorfman syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Chanarin-Dorfman Syndrome

NIH Rare Diseases : 49 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 lipid storage disease and epilepsy occipital calcifications, 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 Regulation of lipolysis in adipocytes and Metabolism. The drugs Bezafibrate and Anticholesteremic Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and eye, and related phenotype is liver/biliary system.

UniProtKB/Swiss-Prot : 71 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.

Genetics Home Reference : 24 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.

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.

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 via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
ataxia
mental retardation

Head And Neck Eyes:
nystagmus
strabismus
ectropion
subcapsular cataracts

Head And Neck Ears:
small ears
hearing loss, sensorineural

Skin Nails Hair Skin:
nonbullous congenital ichthyosiform erythroderma
collodion baby

Skin Nails Hair Hair:
diffuse alopecia

Muscle Soft Tissue:
muscle weakness
myopathy

Abdomen Liver:
hepatomegaly
liver steatosis

Head And Neck Mouth:
eclabium

Skin Nails Hair Skin Histology:
lipid droplets in basal keratinocytes

Hematology:
lipid droplets in granulocytes


Clinical features from OMIM:

275630

Human phenotypes related to Chanarin-Dorfman Syndrome:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 muscle weakness 31 HP:0001324
3 nystagmus 31 HP:0000639
4 intellectual disability 31 HP:0001249
5 hepatomegaly 31 HP:0002240
6 microtia 31 HP:0008551
7 sensorineural hearing impairment 31 HP:0000407
8 myopathy 31 HP:0003198
9 strabismus 31 HP:0000486
10 everted lower lip vermilion 31 HP:0000232
11 hepatic steatosis 31 HP:0001397
12 alopecia 31 HP:0001596
13 abnormality of blood and blood-forming tissues 31 HP:0001871
14 ectropion 31 HP:0000656
15 congenital nonbullous ichthyosiform erythroderma 31 HP:0007479
16 subcapsular cataract 31 HP:0000523

UMLS symptoms related to Chanarin-Dorfman Syndrome:


muscle weakness, ataxia

MGI Mouse Phenotypes related to Chanarin-Dorfman Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 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)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
2 Anticholesteremic Agents Phase 4
3 Antimetabolites Phase 4
4 Clofibric Acid Phase 4 882-09-7
5 Hypolipidemic Agents Phase 4
6 Lipid Regulating Agents Phase 4
7 Liver Extracts Phase 2, Phase 3
8 Pharmaceutical Solutions

Interventional clinical trials:


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

Search NIH Clinical Center for Chanarin-Dorfman Syndrome

Genetic Tests for Chanarin-Dorfman Syndrome

Genetic tests related to Chanarin-Dorfman Syndrome:

# Genetic test Affiliating Genes
1 Triglyceride Storage Disease with Ichthyosis 28 ABHD5

Anatomical Context for Chanarin-Dorfman Syndrome

MalaCards organs/tissues related to Chanarin-Dorfman Syndrome:

38
Liver, Skin, Eye, Adipocyte

Publications for Chanarin-Dorfman Syndrome

Articles related to Chanarin-Dorfman Syndrome:

(show all 37)
# Title Authors Year
1
Chanarin-Dorfman syndrome. ( 28636073 )
2017
2
Chanarin-Dorfman Syndrome with Absent Jordan's Anomaly. ( 28979034 )
2017
3
ABHD5/CGI-58, the Chanarin-Dorfman Syndrome Protein, Mobilises Lipid Stores for Hepatitis C Virus Production. ( 27124600 )
2016
4
Chanarin-Dorfman Syndrome. ( 27671187 )
2016
5
Chanarin Dorfman Syndrome with rare renal involvement. ( 27858988 )
2016
6
Chanarin-Dorfman syndrome: a novel mutation in a Turkish girl. ( 26701953 )
2015
7
Chanarin Dorfman syndrome: a case report with novel nonsense mutation. ( 26353074 )
2015
8
Education and imaging. Hepatology: Chanarin-Dorfman syndrome, a rare cause of fatty liver and steatohepatitis. ( 25865863 )
2015
9
Cerebral lipid accumulation in Chanarin-Dorfman Syndrome. ( 25468645 )
2015
10
Congenital ichtyosis and hetomegaly: Think about Chanarin Dorfman syndrome. ( 26757512 )
2015
11
Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation. ( 25682902 )
2015
12
Chanarin-Dorfman syndrome: A case report and review of the literature. ( 26520282 )
2015
13
Chanarin-Dorfman syndrome in three siblings in a non-consanguineous family. ( 25087691 )
2014
14
Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter. ( 24628803 )
2014
15
Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5/CGI-58 gene. ( 23756328 )
2014
16
Chanarin-Dorfman syndrome: clinical report and novel mutation in ABHD5 gene. ( 25121381 )
2014
17
Chanarin-dorfman syndrome with multi-system involvement in two siblings. ( 24385758 )
2013
18
Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation. ( 22245374 )
2012
19
Beneficial effect of acitretin in Chanarin-Dorfman syndrome. ( 21981352 )
2012
20
A rare cause of Fatty liver and elevated aminotransferase levels: chanarin-dorfman syndrome: a case report. ( 21994851 )
2011
21
Jordan's anomaly in a case of Chanarin-Dorfman syndrome. ( 21689090 )
2011
22
An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family. ( 21332462 )
2011
23
Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5. ( 20528790 )
2010
24
Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene. ( 21122093 )
2010
25
Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene. ( 20307695 )
2010
26
Chanarin-Dorfman syndrome: clinical features of a rare lipid metabolism disorder. ( 19250403 )
2009
27
Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase. ( 19061969 )
2009
28
Clinical and genetic characterization of Chanarin-Dorfman syndrome. ( 18339307 )
2008
29
Chanarin-Dorfman syndrome with eccrine gland vacuolation: a case report. ( 19126011 )
2008
30
CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid. ( 18606822 )
2008
31
Severe oily ichthyosis in monozygotic twins mimicking Chanarin-Dorfman syndrome but not associated with a mutation of the CGI58 gene. ( 16549731 )
2006
32
Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome). ( 16741516 )
2006
33
Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome. ( 16679289 )
2006
34
Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease. ( 15967942 )
2005
35
Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome. ( 16181472 )
2005
36
CGI-58 interacts with perilipin and is localized to lipid droplets. Possible involvement of CGI-58 mislocalization in Chanarin-Dorfman syndrome. ( 15136565 )
2004
37
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:

71
# 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
# 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_016006.5(ABHD5): c.594dup (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_016006.5(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 KEGG:

36
# Name Kegg Source Accession
1 Regulation of lipolysis in adipocytes hsa04923

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.19 AADAC ABHD5 ETFB ETFDH PLIN1 PLIN2
2 11.11 PLIN1 PLIN2
3
Show member pathways
11 ABHD5 PNPLA2
4 10.53 ABHD5 PLIN1 PNPLA2

GO Terms for Chanarin-Dorfman Syndrome

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

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

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

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.63 AADAC PNPLA2 PNPLA8
2 lipid metabolic process GO:0006629 9.62 ABHD5 PLIN1 PNPLA2 PNPLA8
3 electron transport chain GO:0022900 9.43 ETFB ETFDH
4 lipid storage GO:0019915 9.4 PLIN2 PNPLA2
5 respiratory electron transport chain GO:0022904 9.37 ETFB ETFDH
6 lipid catabolic process GO:0016042 9.33 PLIN1 PNPLA2 PNPLA8
7 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.26 ETFB ETFDH
8 negative regulation of sequestering of triglyceride GO:0010891 8.96 ABHD5 PNPLA2
9 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:

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 8.96 ETFB ETFDH
2 triglyceride lipase activity GO:0004806 8.8 AADAC ABHD5 PNPLA2

Sources for Chanarin-Dorfman Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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