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

About this section

Aliases & Descriptions for Chanarin-Dorfman Syndrome:

Name: Chanarin-Dorfman Syndrome 52 11 48 24 25 70 12
Triglyceride Storage Disease with Impaired Long-Chain Fatty Acid Oxidation 48 24 25 70
Neutral Lipid Storage Disease with Ichthyosis 24 25 54 70
Triglyceride Storage Disease with Ichthyosis 25 27 68
Neutral Lipid Storage Disease 11 50 13
Cds 48 25 70
Ichthyosiform Erythroderma with Leukocyte Vacuolation 48 70
Ichthyotic Neutral Lipid Storage Disease 25 70
 
Chanarin-Dorfman Disease 48 25
Nlsdi 48 54
Dcs 48 70
Neutral Lipid Storage Disease with Ichthyotic 48
Disorder of Cornification 12 48
Dorfman Chanarin Syndrome 48
Dorfman-Chanarin Syndrome 70
Dorfman-Chanarin Disease 54

Characteristics:

Orphanet epidemiological data:

54
neutral lipid storage disease with ichthyosis:
Inheritance: Autosomal recessive

HPO:

64
chanarin-dorfman syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 275630
Disease Ontology11 DOID:0050729
Orphanet54 ORPHA98907
ICD10 via Orphanet31 E75.5
MedGen37 C0268238

Summaries for Chanarin-Dorfman Syndrome

About this section
NIH Rare Diseases:48 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, ataxia and muscle weakness. An important gene associated with Chanarin-Dorfman Syndrome is ABHD5 (Abhydrolase Domain Containing 5), and among its related pathways are PPAR signaling pathway and Regulation of lipolysis in adipocytes. 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:70 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:52 275630

Related Diseases for Chanarin-Dorfman Syndrome

About this section

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



Diseases related to chanarin-dorfman syndrome

Symptoms & Phenotypes for Chanarin-Dorfman Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

275630

Clinical features from OMIM:

275630

Human phenotypes related to Chanarin-Dorfman Syndrome:

 64 (show all 16)
id Description HPO Frequency HPO Source Accession
1 everted lower lip vermilion64 HP:0000232
2 sensorineural hearing impairment64 HP:0000407
3 strabismus64 HP:0000486
4 subcapsular cataract64 HP:0000523
5 nystagmus64 HP:0000639
6 ectropion64 HP:0000656
7 intellectual disability64 HP:0001249
8 ataxia64 HP:0001251
9 muscle weakness64 HP:0001324
10 hepatic steatosis64 HP:0001397
11 alopecia64 HP:0001596
12 abnormality of blood and blood-forming tissues64 HP:0001871
13 hepatomegaly64 HP:0002240
14 myopathy64 HP:0003198
15 congenital nonbullous ichthyosiform erythroderma64 HP:0007479
16 microtia64 HP:0008551

UMLS symptoms related to Chanarin-Dorfman Syndrome:


ataxia, muscle weakness

MGI Mouse Phenotypes related to Chanarin-Dorfman Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.9ABHD5, PLIN1, PLIN2, PNPLA2
2MP:00107718.8ABCA12, ABHD5, PLIN1, PLIN2, PNPLA2
3MP:00053788.3ABCA12, ABHD5, PLIN1, PLIN2, PNPLA2, PNPLA8

Drugs & Therapeutics for Chanarin-Dorfman Syndrome

About this section

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 42766
3Hypolipidemic AgentsPhase 42785
4Clofibric AcidPhase 422882-09-7
5Anticholesteremic AgentsPhase 42025
6AntimetabolitesPhase 412054
7Liver ExtractsPhase 2, Phase 34067
8Pharmaceutical Solutions8192

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

About this section

Genetic tests related to Chanarin-Dorfman Syndrome:

id Genetic test Affiliating Genes
1 Triglyceride Storage Disease with Ichthyosis27
2 Chanarin-Dorfman Syndrome24 ABHD5

Anatomical Context for Chanarin-Dorfman Syndrome

About this section

MalaCards organs/tissues related to Chanarin-Dorfman Syndrome:

36
Skin, Liver, Eye

Publications for Chanarin-Dorfman Syndrome

About this section

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
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

About this section

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

70
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, -1SNVPathogenic
2ABHD5NM_ 016006.4(ABHD5): c.98C> G (p.Ser33Ter)SNVPathogenicrs104893675GRCh37Chr 3, 43740818: 43740818
3ABHD5ABHD5, IVS3, A-G, -2SNVPathogenic
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

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

Pathways for genes affiliated with Chanarin-Dorfman Syndrome

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
19.6PLIN1, PLIN2
29.3ABHD5, PLIN1, PNPLA2
3
Show member pathways
7.2AADAC, ABHD5, ETFDH, PLIN1, PLIN2, PNPLA2

GO Terms for genes affiliated with Chanarin-Dorfman Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulumGO:00057839.0AADAC, PLIN1, PLIN2, PNPLA8
2lipid particleGO:00058118.9ABHD5, PLIN1, PLIN2, PNPLA2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1lipid storageGO:001991510.3PLIN2, PNPLA2
2lipid homeostasisGO:005508810.0ABCA12, PNPLA2
3negative regulation of sequestering of triglycerideGO:001089110.0ABHD5, PNPLA2
4lipid catabolic processGO:00160429.9PLIN1, PNPLA2, PNPLA8
5lipid metabolic processGO:00066299.5ABHD5, PLIN1, PNPLA2, PNPLA8
6metabolic processGO:00081529.2AADAC, PNPLA2, PNPLA8
7positive regulation of triglyceride catabolic processGO:00108989.1AADAC, ABHD5, PNPLA2

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

idNameGO IDScoreTop Affiliating Genes
1triglyceride lipase activityGO:00048069.1AADAC, ABHD5, PNPLA2

Sources for Chanarin-Dorfman Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet