MCID: CHN055
MIFTS: 51

Chanarin-Dorfman Syndrome

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

Aliases & Classifications for Chanarin-Dorfman Syndrome

MalaCards integrated aliases for Chanarin-Dorfman Syndrome:

Name: Chanarin-Dorfman Syndrome 57 12 53 25 75 13
Triglyceride Storage Disease with Ichthyosis 25 29 6 40 73
Triglyceride Storage Disease with Impaired Long-Chain Fatty Acid Oxidation 57 53 25 75
Neutral Lipid Storage Disease with Ichthyosis 57 25 59 75
Cds 57 53 25 75
Ichthyosiform Erythroderma with Leukocyte Vacuolation 57 53 75
Ichthyotic Neutral Lipid Storage Disease 57 25 75
Neutral Lipid Storage Disease 12 55 15
Dorfman-Chanarin Syndrome 57 75 37
Chanarin-Dorfman Disease 57 53 25
Nlsdi 57 53 59
Dcs 57 53 75
Neutral Lipid Storage Disease with Ichthyosis; Nlsdi 57
Neutral Lipid Storage Disease with Ichthyotic 53
Dorfman-Chanarin Syndrome; Dcs 57
Disorder of Cornification 12 53
Dorfman Chanarin Syndrome 53
Dorfman-Chanarin Disease 59

Characteristics:

Orphanet epidemiological data:

59
dorfman-chanarin disease
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
majority of cases from middle eastern countries


HPO:

32
chanarin-dorfman syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Chanarin-Dorfman Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Chanarin-Dorfman Syndrome, also known as triglyceride storage disease with ichthyosis, is related to lipid storage disease and myopathy, and has symptoms including ataxia and muscle weakness. 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 Clofibric Acid have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and eye, and related phenotypes are nystagmus and intellectual disability

UniProtKB/Swiss-Prot : 75 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 : 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.

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.

Wikipedia : 76 Neutral lipid storage disease (also known as Chanarin–Dorfman syndrome) is an autosomal recessive... more...

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:

57
Head And Neck Eyes:
nystagmus
strabismus
ectropion
subcapsular cataracts

Muscle Soft Tissue:
muscle weakness
myopathy

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

Neurologic Central Nervous System:
ataxia
mental retardation

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:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 intellectual disability 32 HP:0001249
3 ataxia 32 HP:0001251
4 muscle weakness 32 HP:0001324
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:

46
# 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 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,Phase 3
8 Pharmaceutical Solutions Not Applicable

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 Not Applicable
7 Clinical Study on the Safety of CNT-02 for TGCV and NLSD-M Enrolling by invitation NCT02830763 Not Applicable

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 29 ABHD5

Anatomical Context for Chanarin-Dorfman Syndrome

MalaCards organs/tissues related to Chanarin-Dorfman Syndrome:

41
Liver, Skin, Eye, Adipocyte

Publications for Chanarin-Dorfman Syndrome

Articles related to Chanarin-Dorfman Syndrome:

(show all 39)
# Title Authors Year
1
A New Case of Chanarin-Dorfman Syndrome with a Novel Deletion in ABHD5 Gene ( 29475365 )
2018
2
Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents. ( 29843625 )
2018
3
Chanarin-Dorfman syndrome. ( 28636073 )
2017
4
Chanarin-Dorfman Syndrome with Absent Jordan's Anomaly. ( 28979034 )
2017
5
Chanarin-Dorfman Syndrome. ( 27671187 )
2016
6
ABHD5/CGI-58, the Chanarin-Dorfman Syndrome Protein, Mobilises Lipid Stores for Hepatitis C Virus Production. ( 27124600 )
2016
7
Chanarin Dorfman Syndrome with rare renal involvement. ( 27858988 )
2016
8
Chanarin Dorfman syndrome: a case report with novel nonsense mutation. ( 26353074 )
2015
9
Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation. ( 25682902 )
2015
10
Cerebral lipid accumulation in Chanarin-Dorfman Syndrome. ( 25468645 )
2015
11
Chanarin-Dorfman syndrome: a novel mutation in a Turkish girl. ( 26701953 )
2015
12
Congenital ichtyosis and hetomegaly: Think about Chanarin Dorfman syndrome. ( 26757512 )
2015
13
Education and imaging. Hepatology: Chanarin-Dorfman syndrome, a rare cause of fatty liver and steatohepatitis. ( 25865863 )
2015
14
Chanarin-Dorfman syndrome: A case report and review of the literature. ( 26520282 )
2015
15
Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5/CGI-58 gene. ( 23756328 )
2014
16
Chanarin-Dorfman syndrome in three siblings in a non-consanguineous family. ( 25087691 )
2014
17
Chanarin-Dorfman syndrome: clinical report and novel mutation in ABHD5 gene. ( 25121381 )
2014
18
Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter. ( 24628803 )
2014
19
Chanarin-dorfman syndrome with multi-system involvement in two siblings. ( 24385758 )
2013
20
Beneficial effect of acitretin in Chanarin-Dorfman syndrome. ( 21981352 )
2012
21
Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation. ( 22245374 )
2012
22
An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family. ( 21332462 )
2011
23
Jordan's anomaly in a case of Chanarin-Dorfman syndrome. ( 21689090 )
2011
24
A rare cause of Fatty liver and elevated aminotransferase levels: chanarin-dorfman syndrome: a case report. ( 21994851 )
2011
25
Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene. ( 21122093 )
2010
26
Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene. ( 20307695 )
2010
27
Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5. ( 20528790 )
2010
28
Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase. ( 19061969 )
2009
29
Chanarin-Dorfman syndrome: clinical features of a rare lipid metabolism disorder. ( 19250403 )
2009
30
Clinical and genetic characterization of Chanarin-Dorfman syndrome. ( 18339307 )
2008
31
CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid. ( 18606822 )
2008
32
Chanarin-Dorfman syndrome with eccrine gland vacuolation: a case report. ( 19126011 )
2008
33
Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome). ( 16741516 )
2006
34
Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome. ( 16679289 )
2006
35
Severe oily ichthyosis in monozygotic twins mimicking Chanarin-Dorfman syndrome but not associated with a mutation of the CGI58 gene. ( 16549731 )
2006
36
Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease. ( 15967942 )
2005
37
Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome. ( 16181472 )
2005
38
CGI-58 interacts with perilipin and is localized to lipid droplets. Possible involvement of CGI-58 mislocalization in Chanarin-Dorfman syndrome. ( 15136565 )
2004
39
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:

75
# 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
(show top 50) (show all 176)
# 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 NM_016006.4(ABHD5): c.98C> G (p.Ser33Ter) single nucleotide variant Pathogenic rs104893675 GRCh38 Chromosome 3, 43699326: 43699326
4 ABHD5 ABHD5, IVS3, A-G, -2 single nucleotide variant Pathogenic
5 ABHD5 NM_016006.4(ABHD5): c.389A> C (p.Gln130Pro) single nucleotide variant Pathogenic rs28939077 GRCh37 Chromosome 3, 43743962: 43743962
6 ABHD5 NM_016006.4(ABHD5): c.389A> C (p.Gln130Pro) single nucleotide variant Pathogenic rs28939077 GRCh38 Chromosome 3, 43702470: 43702470
7 ABHD5 NM_016006.4(ABHD5): c.19G> A (p.Glu7Lys) single nucleotide variant Pathogenic rs104893676 GRCh37 Chromosome 3, 43732503: 43732503
8 ABHD5 NM_016006.4(ABHD5): c.19G> A (p.Glu7Lys) single nucleotide variant Pathogenic rs104893676 GRCh38 Chromosome 3, 43691011: 43691011
9 ABHD5 NM_016006.5(ABHD5): c.594dup (p.Arg199Glnfs) duplication Pathogenic rs387906335 GRCh37 Chromosome 3, 43753288: 43753288
10 ABHD5 NM_016006.5(ABHD5): c.594dup (p.Arg199Glnfs) duplication Pathogenic rs387906335 GRCh38 Chromosome 3, 43711796: 43711796
11 ABHD5 NM_016006.4(ABHD5): c.778G> A (p.Glu260Lys) single nucleotide variant Pathogenic rs28939078 GRCh37 Chromosome 3, 43759167: 43759167
12 ABHD5 NM_016006.4(ABHD5): c.778G> A (p.Glu260Lys) single nucleotide variant Pathogenic rs28939078 GRCh38 Chromosome 3, 43717675: 43717675
13 ABHD5 NM_016006.5(ABHD5): c.46_47delAG (p.Arg16Valfs) deletion Pathogenic rs387906336 GRCh37 Chromosome 3, 43732530: 43732531
14 ABHD5 NM_016006.5(ABHD5): c.46_47delAG (p.Arg16Valfs) deletion Pathogenic rs387906336 GRCh38 Chromosome 3, 43691038: 43691039
15 ABHD5 NM_016006.5(ABHD5): c.12G> A (p.Glu4=) single nucleotide variant Likely benign rs141365045 GRCh38 Chromosome 3, 43691004: 43691004
16 ABHD5 NM_016006.5(ABHD5): c.12G> A (p.Glu4=) single nucleotide variant Likely benign rs141365045 GRCh37 Chromosome 3, 43732496: 43732496
17 ABHD5 NM_016006.5(ABHD5): c.26A> G (p.Asp9Gly) single nucleotide variant Uncertain significance rs144420157 GRCh38 Chromosome 3, 43691018: 43691018
18 ABHD5 NM_016006.5(ABHD5): c.26A> G (p.Asp9Gly) single nucleotide variant Uncertain significance rs144420157 GRCh37 Chromosome 3, 43732510: 43732510
19 ABHD5 NM_016006.5(ABHD5): c.345T> C (p.Ser115=) single nucleotide variant Uncertain significance rs777749420 GRCh38 Chromosome 3, 43702426: 43702426
20 ABHD5 NM_016006.5(ABHD5): c.345T> C (p.Ser115=) single nucleotide variant Uncertain significance rs777749420 GRCh37 Chromosome 3, 43743918: 43743918
21 ABHD5 NM_016006.5(ABHD5): c.640C> A (p.Leu214Ile) single nucleotide variant Uncertain significance rs540791910 GRCh38 Chromosome 3, 43711842: 43711842
22 ABHD5 NM_016006.5(ABHD5): c.640C> A (p.Leu214Ile) single nucleotide variant Uncertain significance rs540791910 GRCh37 Chromosome 3, 43753334: 43753334
23 ABHD5 NM_016006.5(ABHD5): c.662-10T> G single nucleotide variant Uncertain significance rs372889561 GRCh38 Chromosome 3, 43714937: 43714937
24 ABHD5 NM_016006.5(ABHD5): c.662-10T> G single nucleotide variant Uncertain significance rs372889561 GRCh37 Chromosome 3, 43756429: 43756429
25 ABHD5 NM_016006.5(ABHD5): c.*125A> T single nucleotide variant Uncertain significance rs752632573 GRCh38 Chromosome 3, 43718657: 43718657
26 ABHD5 NM_016006.5(ABHD5): c.*125A> T single nucleotide variant Uncertain significance rs752632573 GRCh37 Chromosome 3, 43760149: 43760149
27 ABHD5 NM_016006.5(ABHD5): c.*281C> A single nucleotide variant Likely benign rs34226283 GRCh38 Chromosome 3, 43718813: 43718813
28 ABHD5 NM_016006.5(ABHD5): c.*281C> A single nucleotide variant Likely benign rs34226283 GRCh37 Chromosome 3, 43760305: 43760305
29 ABHD5 NM_016006.5(ABHD5): c.*879G> A single nucleotide variant Uncertain significance rs577414446 GRCh38 Chromosome 3, 43719411: 43719411
30 ABHD5 NM_016006.5(ABHD5): c.*879G> A single nucleotide variant Uncertain significance rs577414446 GRCh37 Chromosome 3, 43760903: 43760903
31 ABHD5 NM_016006.5(ABHD5): c.*1009T> A single nucleotide variant Uncertain significance rs781163659 GRCh38 Chromosome 3, 43719541: 43719541
32 ABHD5 NM_016006.5(ABHD5): c.*1009T> A single nucleotide variant Uncertain significance rs781163659 GRCh37 Chromosome 3, 43761033: 43761033
33 ABHD5 NM_016006.5(ABHD5): c.*1371A> G single nucleotide variant Uncertain significance rs886058492 GRCh37 Chromosome 3, 43761395: 43761395
34 ABHD5 NM_016006.5(ABHD5): c.*1371A> G single nucleotide variant Uncertain significance rs886058492 GRCh38 Chromosome 3, 43719903: 43719903
35 ABHD5 NM_016006.5(ABHD5): c.*1417A> G single nucleotide variant Benign rs3733156 GRCh37 Chromosome 3, 43761441: 43761441
36 ABHD5 NM_016006.5(ABHD5): c.*1417A> G single nucleotide variant Benign rs3733156 GRCh38 Chromosome 3, 43719949: 43719949
37 ABHD5 NM_016006.5(ABHD5): c.*1662A> G single nucleotide variant Likely benign rs117110703 GRCh37 Chromosome 3, 43761686: 43761686
38 ABHD5 NM_016006.5(ABHD5): c.*1662A> G single nucleotide variant Likely benign rs117110703 GRCh38 Chromosome 3, 43720194: 43720194
39 ABHD5 NM_016006.5(ABHD5): c.*1757A> G single nucleotide variant Likely benign rs113347419 GRCh37 Chromosome 3, 43761781: 43761781
40 ABHD5 NM_016006.5(ABHD5): c.*1757A> G single nucleotide variant Likely benign rs113347419 GRCh38 Chromosome 3, 43720289: 43720289
41 ABHD5 NM_016006.5(ABHD5): c.*1758_*1759insG insertion Likely benign rs34011416 GRCh37 Chromosome 3, 43761782: 43761783
42 ABHD5 NM_016006.5(ABHD5): c.*1758_*1759insG insertion Likely benign rs34011416 GRCh38 Chromosome 3, 43720290: 43720291
43 ABHD5 NM_016006.5(ABHD5): c.*1934delA deletion Uncertain significance rs886058496 GRCh38 Chromosome 3, 43720466: 43720466
44 ABHD5 NM_016006.5(ABHD5): c.*1934delA deletion Uncertain significance rs886058496 GRCh37 Chromosome 3, 43761958: 43761958
45 ABHD5 NM_016006.5(ABHD5): c.*2137A> G single nucleotide variant Uncertain significance rs144521114 GRCh38 Chromosome 3, 43720669: 43720669
46 ABHD5 NM_016006.5(ABHD5): c.*2137A> G single nucleotide variant Uncertain significance rs144521114 GRCh37 Chromosome 3, 43762161: 43762161
47 ABHD5 NM_016006.5(ABHD5): c.*2304G> T single nucleotide variant Uncertain significance rs886058498 GRCh38 Chromosome 3, 43720836: 43720836
48 ABHD5 NM_016006.5(ABHD5): c.*2304G> T single nucleotide variant Uncertain significance rs886058498 GRCh37 Chromosome 3, 43762328: 43762328
49 ABHD5 NM_016006.5(ABHD5): c.*2324G> T single nucleotide variant Likely benign rs17075919 GRCh38 Chromosome 3, 43720856: 43720856
50 ABHD5 NM_016006.5(ABHD5): c.*2324G> T single nucleotide variant Likely benign rs17075919 GRCh37 Chromosome 3, 43762348: 43762348

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:

37
# 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 9.65 AADAC PNPLA2 PNPLA8
2 lipid metabolic process GO:0006629 9.62 ABHD5 PLIN1 PNPLA2 PNPLA8
3 electron transport chain GO:0022900 9.46 ETFB ETFDH
4 lipid homeostasis GO:0055088 9.43 ABHD5 PNPLA2
5 lipid storage GO:0019915 9.4 PLIN2 PNPLA2
6 respiratory electron transport chain GO:0022904 9.37 ETFB ETFDH
7 lipid catabolic process GO:0016042 9.33 PLIN1 PNPLA2 PNPLA8
8 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.26 ETFB ETFDH
9 negative regulation of sequestering of triglyceride GO:0010891 8.96 ABHD5 PNPLA2
10 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 9.16 ETFB ETFDH
2 carboxylic ester hydrolase activity GO:0052689 8.96 AADAC ABHD5
3 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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