MCID: CHN055
MIFTS: 49

Chanarin-Dorfman Syndrome malady

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

Aliases & Classifications for Chanarin-Dorfman Syndrome

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Aliases & Descriptions for Chanarin-Dorfman Syndrome:

Name: Chanarin-Dorfman Syndrome 51 11 47 24 25 69 12
Triglyceride Storage Disease with Impaired Long-Chain Fatty Acid Oxidation 47 24 25 69
Neutral Lipid Storage Disease with Ichthyosis 24 25 53 69
Triglyceride Storage Disease with Ichthyosis 25 26 67
Neutral Lipid Storage Disease 11 49 13
Cds 47 25 69
Ichthyosiform Erythroderma with Leukocyte Vacuolation 47 69
Ichthyotic Neutral Lipid Storage Disease 25 69
 
Chanarin-Dorfman Disease 47 25
Nlsdi 47 53
Dcs 47 69
Neutral Lipid Storage Disease with Ichthyotic 47
Disorder of Cornification 12 47
Dorfman Chanarin Syndrome 47
Dorfman-Chanarin Syndrome 69
Dorfman-Chanarin Disease 53

Characteristics:

Orphanet epidemiological data:

53
neutral lipid storage disease with ichthyosis:
Inheritance: Autosomal recessive

HPO:

63
chanarin-dorfman syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 275630
Disease Ontology11 DOID:0050729
Orphanet53 ORPHA98907
ICD10 via Orphanet30 E75.5
MedGen36 C0268238

Summaries for Chanarin-Dorfman Syndrome

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NIH Rare Diseases:47 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 sensorineural hearing impairment, dry skin and abnormality of lipid metabolism. An important gene associated with Chanarin-Dorfman Syndrome is ABHD5 (Abhydrolase Domain Containing 5), and among its related pathways are triacylglycerol biosynthesis and Adipogenesis. Affiliated tissues include skin, liver and eye, and related mouse phenotypes are liver/biliary system and integument.

Disease Ontology:11 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:69 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:51 275630

Related Diseases for Chanarin-Dorfman Syndrome

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



Diseases related to chanarin-dorfman syndrome

Symptoms for Chanarin-Dorfman Syndrome

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Symptoms by clinical synopsis from OMIM:

275630

Clinical features from OMIM:

275630

Human phenotypes related to Chanarin-Dorfman Syndrome:

 63 (show all 33)
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment63 hallmark (90%) HP:0000407
2 dry skin63 hallmark (90%) HP:0000958
3 abnormality of lipid metabolism63 hallmark (90%) HP:0003119
4 ichthyosis63 hallmark (90%) HP:0008064
5 retinopathy63 typical (50%) HP:0000488
6 ptosis63 typical (50%) HP:0000508
7 muscle weakness63 typical (50%) HP:0001324
8 hepatomegaly63 typical (50%) HP:0002240
9 myopathy63 typical (50%) HP:0003198
10 skeletal muscle atrophy63 typical (50%) HP:0003202
11 emg abnormality63 typical (50%) HP:0003457
12 short stature63 typical (50%) HP:0004322
13 abnormality of retinal pigmentation63 typical (50%) HP:0007703
14 cognitive impairment63 typical (50%) HP:0100543
15 cataract63 occasional (7.5%) HP:0000518
16 nystagmus63 occasional (7.5%) HP:0000639
17 diabetes mellitus63 occasional (7.5%) HP:0000819
18 reduced tendon reflexes63 occasional (7.5%) HP:0001315
19 abnormality of the aortic valve63 occasional (7.5%) HP:0001646
20 incoordination63 occasional (7.5%) HP:0002311
21 cranial nerve paralysis63 occasional (7.5%) HP:0006824
22 opacification of the corneal stroma63 occasional (7.5%) HP:0007759
23 everted lower lip vermilion63 HP:0000232
24 strabismus63 HP:0000486
25 subcapsular cataract63 HP:0000523
26 ectropion63 HP:0000656
27 intellectual disability63 HP:0001249
28 ataxia63 HP:0001251
29 hepatic steatosis63 HP:0001397
30 alopecia63 HP:0001596
31 abnormality of blood and blood-forming tissues63 HP:0001871
32 congenital nonbullous ichthyosiform erythroderma63 HP:0007479
33 microtia63 HP:0008551

UMLS symptoms related to Chanarin-Dorfman Syndrome:


ataxia, hepatomegaly, muscle weakness

Drugs & Therapeutics for Chanarin-Dorfman Syndrome

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

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BezafibrateapprovedPhase 41441859-67-039042
Synonyms:
2-(4-{2-[(4-chlorobenzoyl)amino]ethyl}phenoxy)-2-methylpropanoic acid
2-(P-(2-(P-Chlorobenzamido)ethyl)phenoxy)-2-methylpropionic acid
2-(p-(2-(p-Chlorobenzamido)ethyl)phenoxy)-2-methylpropionic acid
2-[4-(2-[4-Chlorobenzamido]ethyl)- phenoxy]-2-methylpropanoic acid
2-[4-[2-(4-Chlorobenzamido)ethyl]phenoxy]-2-methylpropanoic acid
2-[4-[2-(4-Chlorobenzamido)ethyl]phenoxy]isobutyric Acid
2-[4-[2-[(4-chlorobenzoyl)amino]ethyl]phenoxy]-2-methylpropanoic acid
41859-67-0
AB00052265
AB1004588
AC-6817
AC1L20XS
AC1Q5E4V
AKOS005107743
Azufibrat
Azupharma Brand of Bezafibrate
B3346
B7273_SIGMA
BF-759
BM 15.075
BM 15075
BM-15.075
BM-15075
BM15.075
BPBio1_000589
BRD-K46018455-001-06-0
BRN 4267656
BSPBio_000535
BSPBio_001314
BSPBio_003119
Bayer Brand of Bezafibrate
Befibrat
Befizal
Berlin Chemie Brand of Bezafibrate
Berlin-Chemie Brand of Bezafibrate
Betapharm Brand of Bezafibrate
Beza Lande
Beza Puren
Beza-Lande
Beza-Puren
BezaLande
BezaPuren
Bezabeta
Bezacur
Bezafibrat
Bezafibrat PB
Bezafibrate (JP15/USAN/INN)
Bezafibrate Azupharma Brand
Bezafibrate Bayer Brand
Bezafibrate Berlin-Chemie Brand
Bezafibrate Betapharm Brand
Bezafibrate Cryopharma Brand
Bezafibrate Elfar Brand
Bezafibrate Hennig Brand
Bezafibrate Hexal Brand
Bezafibrate Isis Brand
Bezafibrate Lakeside Brand
Bezafibrate Merckle Brand
Bezafibrate Roche Brand
Bezafibrate Synthelabo Brand
Bezafibrate TAD Brand
Bezafibrate Teva Brand
Bezafibrate [USAN:BAN:INN:JAN]
Bezafibrato
Bezafibrato [INN-Spanish]
Bezafibrato [Spanish]
Bezafibrato [inn-spanish]
Bezafibratum
Bezafibratum [INN-Latin]
Bezafibratum [inn-latin]
Bezafisal
Bezalip
Bezalip Retard
Bezamerck
Bezatol
Bezatol SR
Bezatol SR (TN)
Bezatol sr (tn)
Bio2_000034
Bio2_000514
Boehringer Mannheim Brand of Bezafibrate
C19H20ClNO4
CAS-41859-67-0
CCRIS 9085
CHEBI:47612
 
CHEMBL264374
CID39042
Cedur
Cryopharma Brand of Bezafibrate
D001629
D01366
DB01393
DB08380
Difaterol
DivK1c_000092
EINECS 255-567-9
Elfar Brand of Bezafibrate
Eulitop
HMS1361B16
HMS1569K17
HMS1791B16
HMS1921H16
HMS1989B16
HMS2089F04
HMS2092B12
HMS500E14
Hennig Brand of Bezafibrate
Hexal Brand of Bezafibrate
I06-1311
IDI1_000092
IDI1_033784
Isis Brand of Bezafibrate
KBio1_000092
KBio2_000034
KBio2_001923
KBio2_002602
KBio2_004491
KBio2_005170
KBio2_007059
KBio3_000067
KBio3_000068
KBio3_002619
KBioGR_000034
KBioGR_000669
KBioSS_000034
KBioSS_001923
LO 44
LS-124535
Lakeside Brand of Bezafibrate
Lipox
MLS000028533
MLS001148205
Merckle Brand of Bezafibrate
MolPort-001-738-424
NCGC00016850-01
NCGC00016850-02
NCGC00016850-11
NCGC00023317-03
NCGC00023317-04
NCGC00023317-05
NCGC00023317-06
NCGC00023317-07
NCGC00023317-08
NINDS_000092
PB, Bezafibrat
Prestwick0_000378
Prestwick1_000378
Prestwick2_000378
Prestwick3_000378
Prestwick_724
Reducterol
Regadrin B
Roche Brand of Bezafibrate
SMR000058298
SPBio_000824
SPBio_002456
SPECTRUM1502046
ST51014927
Sklerofibrat
Solibay
Spectrum2_000922
Spectrum3_001500
Spectrum4_000325
Spectrum5_001079
Spectrum5_001967
Spectrum_001443
Synthelabo Brand of Bezafibrate
TAD Brand of Bezafibrate
Teva Brand of Bezafibrate
a-[4-(4-chlorobenzoylaminoethyl)phenoxy]isobutyric acid
bezafibrate
durabezur
2Lipid Regulating AgentsPhase 42702
3Hypolipidemic AgentsPhase 42721
4Clofibric AcidPhase 421882-09-7
5Anticholesteremic AgentsPhase 41983
6AntimetabolitesPhase 411774
7Liver ExtractsPhase 2, Phase 33868
8Pharmaceutical Solutions7793

Interventional clinical trials:

idNameStatusNCT IDPhase
1The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM)CompletedNCT01527318Phase 4
2SurVival of Lysosomal Acid Lipase Deficiency (LAL-D) Infants Treated With SebelipAse aLfaActive, not recruitingNCT01371825Phase 2, Phase 3
3Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102TerminatedNCT01473875Phase 2, Phase 3
4Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase DeficiencyActive, not recruitingNCT02193867Phase 2
5International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related DiseasesRecruitingNCT02918032
6Clinical Study on the Safety of CNT-02 for TGCV and NLSD-MRecruitingNCT02830763
7Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269

Search NIH Clinical Center for Chanarin-Dorfman Syndrome

Genetic Tests for Chanarin-Dorfman Syndrome

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Genetic tests related to Chanarin-Dorfman Syndrome:

id Genetic test Affiliating Genes
1 Triglyceride Storage Disease with Ichthyosis26
2 Chanarin-Dorfman Syndrome24 ABHD5

Anatomical Context for Chanarin-Dorfman Syndrome

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MalaCards organs/tissues related to Chanarin-Dorfman Syndrome:

35
Skin, Liver, Eye, Skeletal muscle

Animal Models for Chanarin-Dorfman Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Chanarin-Dorfman Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.7ABHD5, PLIN1, PLIN2, PNPLA2
2MP:00107718.6ABCA12, ABHD5, PLIN1, PLIN2, PNPLA2

Publications for Chanarin-Dorfman Syndrome

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Articles related to Chanarin-Dorfman Syndrome:

(show all 35)
idTitleAuthorsYear
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
Chanarin-Dorfman syndrome: a novel mutation in a Turkish girl. (26701953)
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
Congenital ichtyosis and hetomegaly: Think about Chanarin Dorfman syndrome. (26757512)
2015
10
Chanarin Dorfman syndrome: a case report with novel nonsense mutation. (26353074)
2015
11
Chanarin-Dorfman syndrome in three siblings in a non-consanguineous family. (25087691)
2014
12
Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5/CGI-58 gene. (23756328)
2014
13
Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter. (24628803)
2014
14
Chanarin-Dorfman syndrome: clinical report and novel mutation in ABHD5 gene. (25121381)
2014
15
Chanarin-dorfman syndrome with multi-system involvement in two siblings. (24385758)
2013
16
Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation. (22245374)
2012
17
Beneficial effect of acitretin in Chanarin-Dorfman syndrome. (21981352)
2012
18
An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family. (21332462)
2011
19
A rare cause of Fatty liver and elevated aminotransferase levels: chanarin-dorfman syndrome: a case report. (21994851)
2011
20
Jordan's anomaly in a case of Chanarin-Dorfman syndrome. (21689090)
2011
21
Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene. (21122093)
2010
22
Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene. (20307695)
2010
23
Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5. (20528790)
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
Clinical and genetic characterization of Chanarin-Dorfman syndrome. (18339307)
2008
28
Chanarin-Dorfman syndrome with eccrine gland vacuolation: a case report. (19126011)
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

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

69
id Symbol AA change Variation ID SNP ID
1ABHD5p.Glu7LysVAR_023387rs104893676
2ABHD5p.Gln130ProVAR_023388rs28939077
3ABHD5p.Glu260LysVAR_023389rs28939078
4ABHD5p.Ser115GlyVAR_057954

Clinvar genetic disease variations for Chanarin-Dorfman Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ABHD5ABHD5, IVS6, G-A, -1SNVPathogenicChr na, -1: -1
2ABHD5NM_016006.4(ABHD5): c.98C> G (p.Ser33Ter)SNVPathogenicrs104893675GRCh37Chr 3, 43740818: 43740818
3ABHD5ABHD5, IVS3, A-G, -2SNVPathogenicChr na, -1: -1
4ABHD5NM_016006.4(ABHD5): c.389A> C (p.Gln130Pro)SNVPathogenicrs28939077GRCh37Chr 3, 43743962: 43743962
5ABHD5NM_016006.4(ABHD5): c.19G> A (p.Glu7Lys)SNVPathogenicrs104893676GRCh37Chr 3, 43732503: 43732503
6ABHD5NM_016006.4(ABHD5): c.594dupC (p.Arg199Glnfs)duplicationPathogenicrs387906335GRCh37Chr 3, 43753288: 43753288
7ABHD5NM_016006.4(ABHD5): c.778G> A (p.Glu260Lys)SNVPathogenicrs28939078GRCh37Chr 3, 43759167: 43759167
8ABHD5NM_016006.4(ABHD5): c.46_47delAG (p.Arg16Valfs)deletionPathogenicrs387906336GRCh37Chr 3, 43732530: 43732531

Expression for genes affiliated with Chanarin-Dorfman Syndrome

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

Pathways for genes affiliated with Chanarin-Dorfman Syndrome

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GO Terms for genes affiliated with Chanarin-Dorfman Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1lipid particleGO:00058118.7ABHD5, PLIN1, PLIN2, PNPLA2

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of sequestering of triglycerideGO:001089110.3ABHD5, PNPLA2
2lipid storageGO:00199159.8PLIN2, PNPLA2
3positive regulation of triglyceride catabolic processGO:00108989.8AADAC, ABHD5, PNPLA2
4lipid homeostasisGO:00550889.7ABCA12, PNPLA2
5lipid metabolic processGO:00066299.6ABHD5, PLIN1

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

idNameGO IDScoreTop Affiliating Genes
1triglyceride lipase activityGO:00048069.2AADAC, ABHD5, PNPLA2

Sources for Chanarin-Dorfman Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet