CDS
MCID: CHN055
MIFTS: 56

Chanarin-Dorfman Syndrome (CDS)

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

Aliases & Classifications for Chanarin-Dorfman Syndrome

MalaCards integrated aliases for Chanarin-Dorfman Syndrome:

Name: Chanarin-Dorfman Syndrome 58 12 54 26 76 13
Triglyceride Storage Disease with Ichthyosis 26 30 6 41 74
Triglyceride Storage Disease with Impaired Long-Chain Fatty Acid Oxidation 58 54 26 76
Neutral Lipid Storage Disease with Ichthyosis 58 26 60 76
Cds 58 54 26 76
Ichthyosiform Erythroderma with Leukocyte Vacuolation 58 54 76
Ichthyotic Neutral Lipid Storage Disease 58 26 76
Neutral Lipid Storage Disease 12 56 15
Dorfman-Chanarin Syndrome 58 76 38
Chanarin-Dorfman Disease 58 54 26
Nlsdi 58 54 60
Dcs 58 54 76
Neutral Lipid Storage Disease with Ichthyosis; Nlsdi 58
Neutral Lipid Storage Disease with Ichthyotic 54
Dorfman-Chanarin Syndrome; Dcs 58
Disorder of Cornification 12 54
Dorfman Chanarin Syndrome 54
Dorfman-Chanarin Disease 60

Characteristics:

Orphanet epidemiological data:

60
neutral lipid storage disease with ichthyosis
Inheritance: Autosomal recessive;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
majority of cases from middle eastern countries


HPO:

33
chanarin-dorfman syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Chanarin-Dorfman Syndrome

NIH Rare Diseases : 54 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 ichthyosis, 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 Antimetabolites have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and eye, and related phenotypes are progressive proximal muscle weakness and congenital nonbullous ichthyosiform erythroderma

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 : 26 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 : 76 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.

Wikipedia : 77 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

Diseases related to Chanarin-Dorfman Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 524)
# Related Disease Score Top Affiliating Genes
1 lipid storage disease 30.6 ABHD5 PNPLA2
2 ichthyosis 30.6 ABHD5 PNPLA1 PNPLA2
3 castleman disease 11.8
4 epilepsy occipital calcifications 11.6
5 dyskeratosis congenita 11.6
6 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 11.5
7 neutral lipid storage disease with myopathy 11.5
8 conduct disorder 11.4
9 lipidosis with triglycerid storage disease 11.4
10 gastric cancer 11.4
11 oppositional defiant disorder 11.3
12 conversion disorder 11.3
13 cowden syndrome 1 11.3
14 revesz syndrome 11.3
15 band heterotopia 11.3
16 cowden syndrome 11.2
17 lissencephaly, x-linked, 1 11.1
18 immunodeficiency 21 11.1
19 refractory celiac disease 11.1
20 thyroxine-binding globulin quantitative trait locus 11.0
21 inflammatory bowel disease 29 11.0
22 liver cirrhosis 10.4
23 fatty liver disease 10.4
24 salla disease 10.4
25 myopathy 10.3
26 hepatitis c virus 10.3
27 hepatitis 10.3
28 rickets 10.3
29 hepatitis c 10.3
30 lipid metabolism disorder 10.3
31 human immunodeficiency virus type 1 10.2
32 leukemia 10.2
33 muscle disorders 10.2
34 dengue virus 10.2
35 lymphoma 10.2
36 crohn's disease 10.1
37 retinoblastoma 10.1
38 primary orthostatic tremor 10.1
39 melanoma 10.1
40 lipodystrophy, familial partial, type 4 10.1 ABHD5 PLIN1
41 learning disability 10.0
42 celiac disease 1 10.0
43 asthma 10.0
44 thalassemia 10.0
45 cervical dystonia 10.0
46 lymphocytic leukemia 10.0
47 dystonia 10.0
48 horns in sheep 10.0
49 japanese encephalitis 9.9
50 rabies 9.9

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



Diseases related to Chanarin-Dorfman Syndrome

Symptoms & Phenotypes for Chanarin-Dorfman Syndrome

Human phenotypes related to Chanarin-Dorfman Syndrome:

60 33 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive proximal muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0009073
2 congenital nonbullous ichthyosiform erythroderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0007479
3 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
4 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
5 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
6 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
7 hepatomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002240
8 sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407
9 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
10 hypertriglyceridemia 60 33 frequent (33%) Frequent (79-30%) HP:0002155
11 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
12 hepatic steatosis 60 33 frequent (33%) Frequent (79-30%) HP:0001397
13 alopecia 60 33 frequent (33%) Frequent (79-30%) HP:0001596
14 cardiomyopathy 60 33 frequent (33%) Frequent (79-30%) HP:0001638
15 emg: myopathic abnormalities 60 33 frequent (33%) Frequent (79-30%) HP:0003458
16 small earlobe 60 33 frequent (33%) Frequent (79-30%) HP:0000385
17 areflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001284
18 difficulty walking 60 33 frequent (33%) Frequent (79-30%) HP:0002355
19 increased intramyocellular lipid droplets 60 33 frequent (33%) Frequent (79-30%) HP:0012240
20 ectropion 60 33 frequent (33%) Frequent (79-30%) HP:0000656
21 increased csf protein 60 33 frequent (33%) Frequent (79-30%) HP:0002922
22 eclabion 60 33 frequent (33%) Frequent (79-30%) HP:0012472
23 shoulder girdle muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003547
24 subcapsular cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000523
25 elevated hepatic transaminase 33 frequent (33%) HP:0002910
26 abnormal circulating creatine kinase concentration 33 frequent (33%) HP:0040081
27 abnormal granulocyte morphology 33 frequent (33%) HP:0001911
28 central nervous system degeneration 60 33 occasional (7.5%) Occasional (29-5%) HP:0007009
29 micronodular cirrhosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001413
30 myopathy 60 33 Frequent (79-30%) HP:0003198
31 obesity 60 Excluded (0%)
32 intellectual disability 33 HP:0001249
33 muscle weakness 33 HP:0001324
34 microtia 33 HP:0008551
35 everted lower lip vermilion 33 HP:0000232
36 elevated hepatic transaminases 60 Frequent (79-30%)
37 abnormal levels of creatine kinase in blood 60 Frequent (79-30%)
38 abnormality of blood and blood-forming tissues 33 HP:0001871
39 ketosis 60 Excluded (0%)
40 abnormality of granulocytes 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Chanarin-Dorfman Syndrome:


ataxia, muscle weakness

MGI Mouse Phenotypes related to Chanarin-Dorfman Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.35 ABHD5 PLIN1 PLIN2 PNPLA1 PNPLA2
2 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 Antimetabolites Phase 4
3 Hypolipidemic Agents Phase 4
4 Anticholesteremic Agents Phase 4
5 Clofibric Acid Phase 4 882-09-7
6 Lipid Regulating Agents 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 Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency Completed 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 30 ABHD5

Anatomical Context for Chanarin-Dorfman Syndrome

MalaCards organs/tissues related to Chanarin-Dorfman Syndrome:

42
Liver, Skin, Eye, Adipocyte

Publications for Chanarin-Dorfman Syndrome

Articles related to Chanarin-Dorfman Syndrome:

(show all 44)
# Title Authors Year
1
Chanarin-Dorfman syndrome. ( 30457558 )
2019
2
A New Case of Chanarin-Dorfman Syndrome with a Novel Deletion in ABHD5 Gene ( 29475365 )
2018
3
Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents. ( 29843625 )
2018
4
Molecular mechanism of the ichthyosis pathology of Chanarin-Dorfman syndrome: Stimulation of PNPLA1-catalyzed ω-O-acylceramide production by ABHD5. ( 30527376 )
2018
5
Chanarin-Dorfman syndrome. ( 28636073 )
2017
6
Chanarin-Dorfman Syndrome with Absent Jordan's Anomaly. ( 28979034 )
2017
7
Chanarin-Dorfman Syndrome. ( 27671187 )
2016
8
ABHD5/CGI-58, the Chanarin-Dorfman Syndrome Protein, Mobilises Lipid Stores for Hepatitis C Virus Production. ( 27124600 )
2016
9
Chanarin Dorfman Syndrome with rare renal involvement. ( 27858988 )
2016
10
Chanarin Dorfman syndrome: a case report with novel nonsense mutation. ( 26353074 )
2015
11
Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation. ( 25682902 )
2015
12
Cerebral lipid accumulation in Chanarin-Dorfman Syndrome. ( 25468645 )
2015
13
Chanarin-Dorfman syndrome: a novel mutation in a Turkish girl. ( 26701953 )
2015
14
Congenital ichtyosis and hetomegaly: Think about Chanarin Dorfman syndrome. ( 26757512 )
2015
15
Education and imaging. Hepatology: Chanarin-Dorfman syndrome, a rare cause of fatty liver and steatohepatitis. ( 25865863 )
2015
16
Chanarin-Dorfman syndrome: A case report and review of the literature. ( 26520282 )
2015
17
Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5/CGI-58 gene. ( 23756328 )
2014
18
Chanarin-Dorfman syndrome in three siblings in a non-consanguineous family. ( 25087691 )
2014
19
Chanarin-Dorfman syndrome: clinical report and novel mutation in ABHD5 gene. ( 25121381 )
2014
20
Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter. ( 24628803 )
2014
21
Chanarin-dorfman syndrome with multi-system involvement in two siblings. ( 24385758 )
2013
22
Beneficial effect of acitretin in Chanarin-Dorfman syndrome. ( 21981352 )
2012
23
Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation. ( 22245374 )
2012
24
An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family. ( 21332462 )
2011
25
Jordan's anomaly in a case of Chanarin-Dorfman syndrome. ( 21689090 )
2011
26
A rare cause of Fatty liver and elevated aminotransferase levels: chanarin-dorfman syndrome: a case report. ( 21994851 )
2011
27
Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene. ( 21122093 )
2010
28
Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene. ( 20307695 )
2010
29
Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5. ( 20528790 )
2010
30
Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase. ( 19061969 )
2009
31
Chanarin-Dorfman syndrome: clinical features of a rare lipid metabolism disorder. ( 19250403 )
2009
32
Clinical and genetic characterization of Chanarin-Dorfman syndrome. ( 18339307 )
2008
33
CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid. ( 18606822 )
2008
34
Chanarin-Dorfman syndrome with eccrine gland vacuolation: a case report. ( 19126011 )
2008
35
Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5. ( 18410411 )
2008
36
Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome). ( 16741516 )
2006
37
Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome. ( 16679289 )
2006
38
Severe oily ichthyosis in monozygotic twins mimicking Chanarin-Dorfman syndrome but not associated with a mutation of the CGI58 gene. ( 16549731 )
2006
39
Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease. ( 15967942 )
2005
40
Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome. ( 16181472 )
2005
41
Chanarin Dorfman syndrome neonatal diagnosis and 3-year follow-up. ( 16269851 )
2005
42
CGI-58 interacts with perilipin and is localized to lipid droplets. Possible involvement of CGI-58 mislocalization in Chanarin-Dorfman syndrome. ( 15136565 )
2004
43
Chanarin-Dorfman syndrome: a case report. ( 17146263 )
2002
44
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:

76
# 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 180)
# 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 GRCh38 Chromosome 3, 43719903: 43719903
34 ABHD5 NM_016006.5(ABHD5): c.*1371A> G single nucleotide variant Uncertain significance rs886058492 GRCh37 Chromosome 3, 43761395: 43761395
35 ABHD5 NM_016006.5(ABHD5): c.*1417A> G single nucleotide variant Benign rs3733156 GRCh38 Chromosome 3, 43719949: 43719949
36 ABHD5 NM_016006.5(ABHD5): c.*1417A> G single nucleotide variant Benign rs3733156 GRCh37 Chromosome 3, 43761441: 43761441
37 ABHD5 NM_016006.5(ABHD5): c.*1662A> G single nucleotide variant Likely benign rs117110703 GRCh38 Chromosome 3, 43720194: 43720194
38 ABHD5 NM_016006.5(ABHD5): c.*1662A> G single nucleotide variant Likely benign rs117110703 GRCh37 Chromosome 3, 43761686: 43761686
39 ABHD5 NM_016006.5(ABHD5): c.*1757A> G single nucleotide variant Likely benign rs113347419 GRCh38 Chromosome 3, 43720289: 43720289
40 ABHD5 NM_016006.5(ABHD5): c.*1757A> G single nucleotide variant Likely benign rs113347419 GRCh37 Chromosome 3, 43761781: 43761781
41 ABHD5 NM_016006.5(ABHD5): c.*1758_*1759insG insertion Likely benign rs34011416 GRCh38 Chromosome 3, 43720290: 43720291
42 ABHD5 NM_016006.5(ABHD5): c.*1758_*1759insG insertion Likely benign rs34011416 GRCh37 Chromosome 3, 43761782: 43761783
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:

38
# 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
13.06 AADAC ABHD5 ETFDH PLIN1 PLIN2 PNPLA2
2 11.44 PLIN1 PLIN2
3 11.13 PLIN1 PLIN2
4
Show member pathways
11 ABHD5 PNPLA2
5 10.54 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 lipid droplet GO:0005811 9.02 ABHD5 PLIN1 PLIN2 PNPLA1 PNPLA2

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.62 ABHD5 PLIN1 PNPLA1 PNPLA2
2 lipid catabolic process GO:0016042 9.43 PLIN1 PNPLA1 PNPLA2
3 triglyceride catabolic process GO:0019433 9.4 PNPLA1 PNPLA2
4 lipid storage GO:0019915 9.37 PLIN2 PNPLA2
5 negative regulation of sequestering of triglyceride GO:0010891 9.16 ABHD5 PNPLA2
6 lipid homeostasis GO:0055088 9.13 ABHD5 PNPLA1 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:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.46 AADAC ABHD5 PNPLA1 PNPLA2
2 carboxylic ester hydrolase activity GO:0052689 8.96 AADAC ABHD5
3 triglyceride lipase activity GO:0004806 8.92 AADAC ABHD5 PNPLA1 PNPLA2

Sources for Chanarin-Dorfman Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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