CDS
MCID: CHN055
MIFTS: 61

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 56 12 52 25 73 13
Triglyceride Storage Disease with Ichthyosis 25 29 6 39 71
Triglyceride Storage Disease with Impaired Long-Chain Fatty Acid Oxidation 56 52 25 73
Neutral Lipid Storage Disease with Ichthyosis 56 25 58 73
Neutral Lipid Storage Disease 12 58 54 15
Cds 56 52 25 73
Ichthyosiform Erythroderma with Leukocyte Vacuolation 56 52 73
Ichthyotic Neutral Lipid Storage Disease 56 25 73
Dorfman-Chanarin Syndrome 56 73 36
Chanarin-Dorfman Disease 56 52 25
Nlsdi 56 52 58
Dcs 56 52 73
Neutral Lipid Storage Disease with Ichthyosis; Nlsdi 56
Neutral Lipid Storage Disease with Ichthyotic 52
Lipidosis with Triglyceride Storage Disease 58
Ichthyosiform Erythroderma, Congenital 43
Dorfman-Chanarin Syndrome; Dcs 56
Disorder of Cornification 12 52
Dorfman Chanarin Syndrome 52
Dorfman-Chanarin Disease 58

Characteristics:

Orphanet epidemiological data:

58
neutral lipid storage disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
neutral lipid storage disease with ichthyosis
Inheritance: Autosomal recessive;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
majority of cases from middle eastern countries


HPO:

31
chanarin-dorfman syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism


Summaries for Chanarin-Dorfman Syndrome

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. The signs and symptoms vary greatly among individuals with Chanarin-Dorfman syndrome. Some people may have ichthyosis only, while others may have problems affecting many areas of the body.

MalaCards based summary : Chanarin-Dorfman Syndrome, also known as triglyceride storage disease with ichthyosis, is related to lipid storage disease and erythrokeratoderma, and has symptoms including muscle weakness and ataxia. An important gene associated with Chanarin-Dorfman Syndrome is ABHD5 (Abhydrolase Domain Containing 5, Lysophosphatidic Acid Acyltransferase), and among its related pathways/superpathways are Regulation of lipolysis in adipocytes and Metabolism. The drugs Bezafibrate and Hypolipidemic Agents 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.

NIH Rare Diseases : 52 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.

KEGG : 36 Chanarin-Dorfman syndrome, also referred to as neutral-lipid-storage disease with ichthyosis, is a rare autosomal recessive disease of lipid metabolism. Cutaneous finding is congenital, generalized ichthyosis similar to that of non-bullous congenital ichthyosiform erythroderma. Other characteristics include hepatomegaly, sensorineural deafness, mental retardation, and cataracts. Mutations in the CGI-58 gene encoding a protein of the alpha/beta hydrolase domain subfamily are responsible for this disorder.

UniProtKB/Swiss-Prot : 73 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 : 74 Neutral lipid storage disease (also known as Chanarin-Dorfman syndrome) is a congenital autosomal... more...

More information 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 1028)
# Related Disease Score Top Affiliating Genes
1 lipid storage disease 31.2 PNPLA2 LIN9 ABHD5
2 erythrokeratoderma 30.9 PNPLA1 ABHD5
3 muscular lipidosis 30.8 ETFDH CHKA
4 body mass index quantitative trait locus 11 28.5 PNPLA2 PLIN2 PLIN1 LIPE LIN9 DGAT2
5 dyskeratosis congenita 12.1
6 triglyceride deposit cardiomyovasculopathy 11.9
7 castleman disease 11.9
8 cervical dystonia 11.8
9 epilepsy with bilateral occipital calcifications 11.7
10 ichthyosis, congenital, autosomal recessive 2 11.7
11 erythroderma, ichthyosiform, congenital reticular 11.7
12 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 11.6
13 neutral lipid storage disease with myopathy 11.6
14 lipidosis with triglycerid storage disease 11.6
15 refractory celiac disease 11.5
16 conduct disorder 11.5
17 oppositional defiant disorder 11.5
18 cowden syndrome 1 11.5
19 gastric cancer 11.5
20 inherited thyroxine-binding globulin deficiency 11.5
21 thyroxine-binding globulin quantitative trait locus 11.4
22 conversion disorder 11.4
23 band heterotopia 11.4
24 revesz syndrome 11.4
25 cowden syndrome 11.4
26 canavan disease 11.4
27 lissencephaly, x-linked, 1 11.2
28 immunodeficiency 21 11.2
29 creatine deficiency syndromes 11.2
30 campomelic dysplasia 11.1
31 inflammatory bowel disease 29 11.1
32 t-b- severe combined immunodeficiency 11.1
33 ichthyosis 10.9
34 helix syndrome 10.6
35 autosomal recessive disease 10.6
36 epidermolytic hyperkeratosis 10.6
37 ectropion 10.6
38 lipid metabolism disorder 10.5
39 myopathy 10.5
40 liver cirrhosis 10.5
41 fatty liver disease 10.5
42 triiodothyronine receptor auxiliary protein 10.5
43 crohn's disease 10.4
44 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
45 rickets 10.4
46 inherited metabolic disorder 10.4
47 meibomian cyst 10.4 PLIN2 PLIN1
48 dengue virus 10.4
49 hair whorl 10.4
50 atrial fibrillation 10.4

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:

58 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive proximal muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0009073
2 congenital nonbullous ichthyosiform erythroderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0007479
3 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
4 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
5 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
6 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
7 hypertriglyceridemia 58 31 frequent (33%) Frequent (79-30%) HP:0002155
8 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
9 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
10 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
11 hepatic steatosis 58 31 frequent (33%) Frequent (79-30%) HP:0001397
12 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
13 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
14 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
15 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%) HP:0003458
16 areflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001284
17 small earlobe 58 31 frequent (33%) Frequent (79-30%) HP:0000385
18 ectropion 58 31 frequent (33%) Frequent (79-30%) HP:0000656
19 cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001638
20 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
21 eclabion 58 31 frequent (33%) Frequent (79-30%) HP:0012472
22 increased intramyocellular lipid droplets 58 31 frequent (33%) Frequent (79-30%) HP:0012240
23 shoulder girdle muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003547
24 increased csf protein 58 31 frequent (33%) Frequent (79-30%) HP:0002922
25 subcapsular cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000523
26 abnormal circulating creatine kinase concentration 31 frequent (33%) HP:0040081
27 abnormal granulocyte morphology 31 frequent (33%) HP:0001911
28 central nervous system degeneration 58 31 occasional (7.5%) Occasional (29-5%) HP:0007009
29 micronodular cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001413
30 myopathy 58 31 Frequent (79-30%) HP:0003198
31 intellectual disability 31 HP:0001249
32 microtia 31 HP:0008551
33 muscle weakness 31 HP:0001324
34 everted lower lip vermilion 31 HP:0000232
35 obesity 58 Excluded (0%)
36 abnormal levels of creatine kinase in blood 58 Frequent (79-30%)
37 abnormality of blood and blood-forming tissues 31 HP:0001871
38 abnormality of granulocytes 58 Frequent (79-30%)
39 ketosis 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatomegaly
liver steatosis

Neurologic Central Nervous System:
ataxia
mental retardation

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

Head And Neck Eyes:
nystagmus
strabismus
ectropion
subcapsular cataracts

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:


muscle weakness, ataxia

MGI Mouse Phenotypes related to Chanarin-Dorfman Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.93 ABHD14A ABHD4 ABHD5 CHKA DGAT2 LIPE
2 adipose tissue MP:0005375 9.73 DGAT2 LIPE PLIN1 PLIN2 PLIN5 PNPLA2
3 integument MP:0010771 9.56 ABHD5 DGAT2 LIPE MGLL PLIN1 PLIN2
4 liver/biliary system MP:0005370 9.28 ABHD5 CHKA DGAT2 LIPE MGLL PLIN1

Drugs & Therapeutics for Chanarin-Dorfman Syndrome

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
2 Hypolipidemic Agents Phase 4
3 Clofibric Acid Phase 4 882-09-7
4 Lipid Regulating Agents Phase 4
5 Anticholesteremic Agents Phase 4
6 Antimetabolites Phase 4
7 Liver Extracts Phase 2, Phase 3
8
Isotretinoin Approved Phase 2 4759-48-2 5282379 5538
9 Dermatologic Agents Phase 2
10 Immunoglobulins Phase 2
11 Antibodies Phase 2

Interventional clinical trials:

(show all 12)
# 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 TREATMENT OF THE RECESSIVE NONBULLOUS CONGENITAL ICHTHYOSIS BY THE EPIGALLOCATECHINE CUTANEOUS Unknown status NCT01222000 Phase 3 apply VEREGEN ® 10 % on a randomized area and the moisturizing cream of the other side;apply VEREGEN ® 10 % on a randomized area and the moisturizing cream of the other side
3 An Open Label, Multicenter, Dose Escalation Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of SBC-102 (Sebelipase Alfa) in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency Completed NCT01371825 Phase 2, Phase 3 Sebelipase alfa (SBC-102)
4 An Open Label Multicenter Extension Study to Evaluate the Long-term Efficacy and Safety of SBC-102 in Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Terminated NCT01473875 Phase 2, Phase 3 SBC-102
5 A Randomized, Bilateral Comparison, Vehicle-Controlled, Safety and Tolerability Study of Topical PAT-001 for the Treatment of Congenital Ichthyosis Completed NCT02864082 Phase 2 PAT-001, 0.1%;PAT-001, 0.2%;Vehicle
6 A Randomized, Parallel, Double-Blind, Vehicle Controlled Study to Evaluate the Safety and Efficacy of Two Concentrations of Topical TMB-001 for the Treatment of Congenital Ichthyosis Recruiting NCT04154293 Phase 2 Isotretinoin
7 A Phase I/II Clinical Trial of Topical KB105, a Replication-incompetent, Non-integrating HSV-1 Vector Expressing Human Transglutaminase 1 (TGM1) for the Treatment of TGM1-deficient Autosomal Recessive Congenital Ichthyosis (ARCI) Recruiting NCT04047732 Phase 1, Phase 2
8 A Multicenter Study With a Randomized, Double-Blind, Placebo-Controlled Period, Followed by an Open-Label Maintenance Dosing Period to Evaluate the Efficacy and Safety of Secukinumab in Patients With Ichthyoses Active, not recruiting NCT03041038 Phase 2 Secukinumab;Placebo
9 A Phase 2, Open Label, Multicenter Study to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetics of Sebelipase Alfa in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Terminated NCT02193867 Phase 2 Sebelipase Alfa
10 International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases Recruiting NCT02918032
11 Prospective Evaluation of Infants and Children With Congenital Ichthyosis Recruiting NCT02655861
12 Clinical Study on the Safety and Efficacy of Medium-chain Fatty Acid Capsules (CNT-02) for Primary Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Neutral Lipid Storage Disease With Myopathy (NLSD-M) Terminated NCT02830763

Search NIH Clinical Center for Chanarin-Dorfman Syndrome

Cochrane evidence based reviews: ichthyosiform erythroderma, congenital

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:

40
Liver, Skin, Eye, Adipocyte, Thyroid

Publications for Chanarin-Dorfman Syndrome

Articles related to Chanarin-Dorfman Syndrome:

(show top 50) (show all 94)
# Title Authors PMID Year
1
Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. 6 56 61
11590543 2001
2
Cerebral lipid accumulation in Chanarin-Dorfman Syndrome. 56 61
25468645 2015
3
CGI-58 interacts with perilipin and is localized to lipid droplets. Possible involvement of CGI-58 mislocalization in Chanarin-Dorfman syndrome. 6 61
15136565 2004
4
Ichthyosis and neutral lipid storage disease. 61 56
3354610 1988
5
Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. 56
10712205 2000
6
Ichthyosis and neutral lipid storage disease. 56
3993689 1985
7
Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation. 56
7362208 1980
8
Lipid storage myopathy, ichthyosis, and steatorrhea. 56
545139 1979
9
Neutral-lipid storage disease: a new disorder of lipid metabolism. 56
1139147 1975
10
Muscle carnitine deficiency. Association with lipid myopathy, vacuolar neuropathy, and vacuolated leukocytes. 56
4414743 1974
11
Ichthyosiform dermatosis with systemic lipidosis. 56
4277517 1974
12
Jordans' anomaly in white blood cells. Report of case. 56
5330405 1966
13
The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva (ERB.). 56
13079655 1953
14
Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome). 54 61
16741516 2006
15
Vacuolated Leukocytes in the Peripheral Blood Smear of a Child With Chanarin-Dorfman Syndrome. 61
32517421 2020
16
Causes of secondary non-alcoholic fatty liver disease in non-obese children below 10 years. 61
31897838 2020
17
Chanarin-Dorfman syndrome: a novel homozygous mutation in the ABHD5 gene. 61
31486100 2020
18
Erratum: Chanarin-Dorfman syndrome: Clinical report and novel mutation in ABHD5 gene. 61
31929317 2020
19
A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings. 61
31883530 2019
20
Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene. 61
31118107 2019
21
Chanarin-Dorfman syndrome. 61
30457558 2019
22
Molecular mechanism of the ichthyosis pathology of Chanarin-Dorfman syndrome: Stimulation of PNPLA1-catalyzed ω-O-acylceramide production by ABHD5. 61
30527376 2018
23
A New Case of Chanarin-Dorfman Syndrome with a Novel Deletion in ABHD5 Gene 61
29475365 2018
24
An overview of epidermal lamellar bodies: Novel roles in biological adaptations and secondary barriers. 61
30153959 2018
25
Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents. 61
29843625 2018
26
Chanarin-Dorfman Syndrome with Absent Jordan's Anomaly. 61
28979034 2017
27
Chanarin-Dorfman syndrome. 61
28636073 2017
28
Chanarin-Dorfman syndrome with rare renal involvement. 61
27858988 2017
29
Molecular Basis of ABHD5 Lipolysis Activation. 61
28211464 2017
30
Chanarin-Dorfman Syndrome. 61
27671187 2016
31
ABHD5/CGI-58, the Chanarin-Dorfman Syndrome Protein, Mobilises Lipid Stores for Hepatitis C Virus Production. 61
27124600 2016
32
Chanarin-Dorfman syndrome in three siblings in a non-consanguineous family. 61
25087691 2016
33
Chanarin Dorfman syndrome: a case report with novel nonsense mutation. 61
26353074 2016
34
Reassessing the Potential Activities of Plant CGI-58 Protein. 61
26745266 2016
35
[Chanarin-Dorfman syndrome in a 7-year-old child: when myophathy and skin involvement are all but one]. 61
26546924 2015
36
Chanarin-Dorfman syndrome: A case report and review of the literature. 61
26520282 2015
37
Congenital ichtyosis and hetomegaly: Think about Chanarin Dorfman syndrome. 61
26757512 2015
38
The Causative Gene in Chanarian Dorfman Syndrome Regulates Lipid Droplet Homeostasis in C. elegans. 61
26083785 2015
39
Chanarin-Dorfman syndrome: a novel mutation in a Turkish girl. 61
26701953 2015
40
Education and imaging. Hepatology: Chanarin-Dorfman syndrome, a rare cause of fatty liver and steatohepatitis. 61
25865863 2015
41
Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation. 61
25682902 2015
42
Comparative gene identification-58 (CGI-58) promotes autophagy as a putative lysophosphatidylglycerol acyltransferase. 61
25315780 2014
43
Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5/CGI-58 gene. 61
23756328 2014
44
Comparative gene identification 58/α/β hydrolase domain 5 lacks lysophosphatidic acid acyltransferase activity. 61
24879803 2014
45
Chanarin-Dorfman syndrome: clinical report and novel mutation in ABHD5 gene. 61
25121381 2014
46
Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter. 61
24628803 2014
47
PNPLA2 mutation: a paediatric case with early onset but indolent course. 61
24074500 2013
48
From blood smear to lipid disorder: a case report. 61
23042024 2013
49
Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases. 61
22814679 2013
50
Chanarin-dorfman syndrome with multi-system involvement in two siblings. 61
24385758 2013

Variations for Chanarin-Dorfman Syndrome

ClinVar genetic disease variations for Chanarin-Dorfman Syndrome:

6 (show top 50) (show all 132) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABHD5 NM_016006.6(ABHD5):c.811G>A (p.Gly271Arg)SNV Pathogenic 812597 3:43759200-43759200 3:43717708-43717708
2 ABHD5 ABHD5, IVS6, G-A, -1SNV Pathogenic 5347
3 ABHD5 NM_016006.6(ABHD5):c.98C>G (p.Ser33Ter)SNV Pathogenic 5348 rs104893675 3:43740818-43740818 3:43699326-43699326
4 ABHD5 NM_016006.6(ABHD5):c.134-2A>GSNV Pathogenic 5349 3:43743705-43743705 3:43702213-43702213
5 ABHD5 NM_016006.6(ABHD5):c.389A>C (p.Gln130Pro)SNV Pathogenic 5350 rs28939077 3:43743962-43743962 3:43702470-43702470
6 ABHD5 NM_016006.6(ABHD5):c.19G>A (p.Glu7Lys)SNV Pathogenic 5351 rs104893676 3:43732503-43732503 3:43691011-43691011
7 ABHD5 NM_016006.6(ABHD5):c.594dup (p.Arg199fs)duplication Pathogenic 5352 rs387906335 3:43753287-43753288 3:43711795-43711796
8 ABHD5 NM_016006.6(ABHD5):c.778G>A (p.Glu260Lys)SNV Pathogenic 5353 rs28939078 3:43759167-43759167 3:43717675-43717675
9 ABHD5 NM_016006.6(ABHD5):c.42_43AG[2] (p.Arg16fs)short repeat Pathogenic 5354 rs387906336 3:43732525-43732526 3:43691033-43691034
10 ABHD5 NM_016006.6(ABHD5):c.934C>T (p.Arg312Ter)SNV Pathogenic 619125 rs761087968 3:43759323-43759323 3:43717831-43717831
11 ABHD5 NM_016006.6(ABHD5):c.48-4C>GSNV Conflicting interpretations of pathogenicity 748282 3:43740764-43740764 3:43699272-43699272
12 ABHD5 NM_016006.6(ABHD5):c.430T>C (p.Leu144=)SNV Conflicting interpretations of pathogenicity 345219 rs767197048 3:43744003-43744003 3:43702511-43702511
13 ABHD5 NM_016006.6(ABHD5):c.885C>T (p.Gly295=)SNV Uncertain significance 345223 rs746970260 3:43759274-43759274 3:43717782-43717782
14 ABHD5 NM_016006.6(ABHD5):c.*302T>ASNV Uncertain significance 345230 rs886058489 3:43760326-43760326 3:43718834-43718834
15 ABHD5 NM_001365650.1(ABHD5):c.-98C>ASNV Uncertain significance 345206 rs886058486 3:43732387-43732387 3:43690895-43690895
16 ABHD5 NM_001365650.1(ABHD5):c.-65G>CSNV Uncertain significance 345209 rs186175534 3:43732420-43732420 3:43690928-43690928
17 ABHD5 NM_016006.6(ABHD5):c.-30A>GSNV Uncertain significance 345211 rs367627114 3:43732455-43732455 3:43690963-43690963
18 ABHD5 NM_016006.6(ABHD5):c.-24C>TSNV Uncertain significance 345212 rs189850893 3:43732461-43732461 3:43690969-43690969
19 ABHD5 NM_016006.6(ABHD5):c.*1934deldeletion Uncertain significance 345254 rs886058496 3:43761957-43761957 3:43720465-43720465
20 ABHD5 NM_016006.6(ABHD5):c.*2304G>TSNV Uncertain significance 345259 rs886058498 3:43762328-43762328 3:43720836-43720836
21 ABHD5 NM_016006.6(ABHD5):c.*2542A>GSNV Uncertain significance 345265 rs886058500 3:43762566-43762566 3:43721074-43721074
22 ABHD5 NM_016006.6(ABHD5):c.*2718deldeletion Uncertain significance 345267 rs886058502 3:43762742-43762742 3:43721250-43721250
23 ABHD5 NM_016006.6(ABHD5):c.*3186C>TSNV Uncertain significance 345272 rs886058505 3:43763210-43763210 3:43721718-43721718
24 ABHD5 NM_016006.6(ABHD5):c.*879G>ASNV Uncertain significance 345232 rs577414446 3:43760903-43760903 3:43719411-43719411
25 ABHD5 NM_016006.6(ABHD5):c.*1009T>ASNV Uncertain significance 345233 rs781163659 3:43761033-43761033 3:43719541-43719541
26 ABHD5 NM_016006.6(ABHD5):c.*1371A>GSNV Uncertain significance 345239 rs886058492 3:43761395-43761395 3:43719903-43719903
27 ABHD5 NM_016006.6(ABHD5):c.344G>A (p.Ser115Asn)SNV Uncertain significance 587418 rs1559412343 3:43743917-43743917 3:43702425-43702425
28 ABHD5 NM_016006.6(ABHD5):c.345T>C (p.Ser115=)SNV Uncertain significance 345218 rs777749420 3:43743918-43743918 3:43702426-43702426
29 ABHD5 NM_016006.6(ABHD5):c.640C>A (p.Leu214Ile)SNV Uncertain significance 345220 rs540791910 3:43753334-43753334 3:43711842-43711842
30 ABHD5 NM_016006.6(ABHD5):c.662-10T>GSNV Uncertain significance 345221 rs372889561 3:43756429-43756429 3:43714937-43714937
31 ABHD5 NM_016006.6(ABHD5):c.*125A>TSNV Uncertain significance 345228 rs752632573 3:43760149-43760149 3:43718657-43718657
32 ABHD5 NM_016006.6(ABHD5):c.-48C>TSNV Uncertain significance 901332 3:43732437-43732437 3:43690945-43690945
33 ABHD5 NM_016006.6(ABHD5):c.11A>C (p.Glu4Ala)SNV Uncertain significance 901881 3:43732495-43732495 3:43691003-43691003
34 ABHD5 NM_016006.6(ABHD5):c.43G>A (p.Glu15Lys)SNV Uncertain significance 901882 3:43732527-43732527 3:43691035-43691035
35 ABHD5 NM_016006.6(ABHD5):c.201G>C (p.Lys67Asn)SNV Uncertain significance 902780 3:43743774-43743774 3:43702282-43702282
36 ABHD5 NM_016006.6(ABHD5):c.418T>G (p.Cys140Gly)SNV Uncertain significance 902781 3:43743991-43743991 3:43702499-43702499
37 ABHD5 NM_016006.6(ABHD5):c.444C>T (p.Ile148=)SNV Uncertain significance 900235 3:43744017-43744017 3:43702525-43702525
38 ABHD5 NM_016006.6(ABHD5):c.984T>C (p.Tyr328=)SNV Uncertain significance 900237 3:43759958-43759958 3:43718466-43718466
39 ABHD5 NM_016006.6(ABHD5):c.*57T>CSNV Uncertain significance 901386 3:43760081-43760081 3:43718589-43718589
40 ABHD5 NM_016006.6(ABHD5):c.*154A>CSNV Uncertain significance 901388 3:43760178-43760178 3:43718686-43718686
41 ABHD5 NM_016006.6(ABHD5):c.*227T>CSNV Uncertain significance 901389 3:43760251-43760251 3:43718759-43718759
42 ABHD5 NM_016006.6(ABHD5):c.*392T>GSNV Uncertain significance 901942 3:43760416-43760416 3:43718924-43718924
43 ABHD5 NM_016006.6(ABHD5):c.*464A>GSNV Uncertain significance 901943 3:43760488-43760488 3:43718996-43718996
44 ABHD5 NM_016006.6(ABHD5):c.*848C>TSNV Uncertain significance 901944 3:43760872-43760872 3:43719380-43719380
45 ABHD5 NM_016006.6(ABHD5):c.*916C>TSNV Uncertain significance 901945 3:43760940-43760940 3:43719448-43719448
46 ABHD5 NM_016006.6(ABHD5):c.*1076G>ASNV Uncertain significance 902842 3:43761100-43761100 3:43719608-43719608
47 ABHD5 NM_016006.6(ABHD5):c.*1485A>TSNV Uncertain significance 900284 3:43761509-43761509 3:43720017-43720017
48 ABHD5 NM_016006.6(ABHD5):c.*1537C>GSNV Uncertain significance 900285 3:43761561-43761561 3:43720069-43720069
49 ABHD5 NM_016006.6(ABHD5):c.*1596A>TSNV Uncertain significance 900286 3:43761620-43761620 3:43720128-43720128
50 ABHD5 NM_016006.6(ABHD5):c.*2048T>GSNV Uncertain significance 902011 3:43762072-43762072 3:43720580-43720580

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

73
# 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

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
13.83 PNPLA7 PNPLA5 PNPLA2 PLIN2 PLIN1 MGLL
2
Show member pathways
12.54 PNPLA7 PNPLA2 MGLL MBOAT2 DGAT2 CHKA
3
Show member pathways
12.27 PLIN1 MGLL LIPE ABHD5
4 11.75 PLIN2 PLIN1 LIPE
5 11.47 PLIN5 PLIN2 PLIN1
6 11.41 PNPLA2 MGLL MBOAT2 DGAT2
7
Show member pathways
11.2 PNPLA2 MBOAT2 LIPE DGAT2 ABHD5
8 10.77 PNPLA2 PLIN1 MGLL LIPE ABHD5
9 10.37 PNPLA2 MGLL LIPE

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 membrane GO:0005789 9.5 PNPLA7 PNPLA2 MIA2 MGLL MBOAT2 DGAT2
2 lipid droplet GO:0005811 9.36 PNPLA7 PNPLA5 PNPLA2 PNPLA1 PLIN5 PLIN2

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 lipid homeostasis GO:0055088 9.65 PNPLA5 PNPLA2 PNPLA1 ABHD5 ABHD4
2 lipid storage GO:0019915 9.62 PNPLA2 PLIN5 PLIN2 DGAT2
3 phospholipid biosynthetic process GO:0008654 9.61 MBOAT2 CHKA ABHD5
4 lipid catabolic process GO:0016042 9.56 PNPLA7 PNPLA5 PNPLA2 PNPLA1 PLIN1 MGLL
5 triglyceride catabolic process GO:0019433 9.55 PNPLA5 PNPLA2 PNPLA1 MGLL LIPE
6 phosphatidylethanolamine acyl-chain remodeling GO:0036152 9.54 MBOAT2 ABHD4
7 acylglycerol acyl-chain remodeling GO:0036155 9.54 PNPLA2 MGLL DGAT2
8 lipid droplet organization GO:0034389 9.52 PNPLA2 PLIN5
9 positive regulation of triglyceride biosynthetic process GO:0010867 9.51 PLIN5 DGAT2
10 positive regulation of triglyceride catabolic process GO:0010898 9.49 PNPLA2 ABHD5
11 positive regulation of sequestering of triglyceride GO:0010890 9.48 PLIN5 PLIN2
12 diacylglycerol biosynthetic process GO:0006651 9.46 PNPLA2 DGAT2
13 negative regulation of sequestering of triglyceride GO:0010891 9.4 PNPLA2 ABHD5
14 lipid metabolic process GO:0006629 9.4 PNPLA7 PNPLA5 PNPLA2 PNPLA1 PLIN1 MGLL

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 9.65 PNPLA7 PNPLA5 PNPLA2 PNPLA1 MGLL LIPE
2 transferase activity, transferring acyl groups GO:0016746 9.61 MBOAT2 DGAT2 ABHD5
3 carboxylic ester hydrolase activity GO:0052689 9.43 MGLL ABHD5 ABHD4
4 lipase activity GO:0016298 9.4 MGLL LIPE
5 1-acylglycerol-3-phosphate O-acyltransferase activity GO:0003841 9.37 MBOAT2 ABHD5
6 lysophospholipase activity GO:0004622 9.33 PNPLA7 MGLL ABHD4
7 lysophosphatidic acid acyltransferase activity GO:0042171 9.32 ABHD5 ABHD4
8 triglyceride lipase activity GO:0004806 9.02 PNPLA5 PNPLA2 PNPLA1 LIPE ABHD5

Sources for Chanarin-Dorfman Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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