CDS
MCID: CHN055
MIFTS: 60

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 57 12 20 43 73 13
Triglyceride Storage Disease with Ichthyosis 43 29 6 39 71
Triglyceride Storage Disease with Impaired Long-Chain Fatty Acid Oxidation 57 20 43 73
Neutral Lipid Storage Disease with Ichthyosis 57 43 58 73
Neutral Lipid Storage Disease 12 58 54 15
Cds 57 20 43 73
Ichthyosiform Erythroderma with Leukocyte Vacuolation 57 20 73
Ichthyotic Neutral Lipid Storage Disease 57 43 73
Dorfman-Chanarin Syndrome 57 73 36
Chanarin-Dorfman Disease 57 20 43
Nlsdi 57 20 58
Dcs 57 20 73
Neutral Lipid Storage Disease with Ichthyosis; Nlsdi 57
Neutral Lipid Storage Disease with Ichthyotic 20
Lipidosis with Triglyceride Storage Disease 58
Ichthyosiform Erythroderma, Congenital 44
Dorfman-Chanarin Syndrome; Dcs 57
Disorder of Cornification 12 20
Dorfman Chanarin Syndrome 20
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®:

57 (Updated 05-Mar-2021)
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

MedlinePlus Genetics : 43 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 erythrokeratoderma and muscular lipidosis, and has symptoms including ataxia and muscle weakness. 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 Antimetabolites have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and skin, 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.

GARD : 20 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 297)
# Related Disease Score Top Affiliating Genes
1 erythrokeratoderma 30.6 PNPLA1 ABHD5
2 muscular lipidosis 30.5 ETFDH CHKA
3 lysosomal acid lipase deficiency 29.4 PNPLA5 PNPLA2 PLIN3 MGLL LIPE ABHD5
4 triglyceride deposit cardiomyovasculopathy 11.4
5 ichthyosis, congenital, autosomal recessive 2 11.4
6 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 11.3
7 neutral lipid storage disease with myopathy 11.3
8 lipidosis with triglycerid storage disease 11.2
9 creatine deficiency syndromes 11.0
10 immunodeficiency 21 11.0
11 ichthyosis 10.7
12 triiodothyronine receptor auxiliary protein 10.6
13 lipid storage disease 10.5
14 autosomal recessive disease 10.4
15 epidermolytic hyperkeratosis 10.4
16 non-alcoholic fatty liver disease 10.4
17 ectropion 10.4
18 lipid metabolism disorder 10.3
19 myopathy 10.3
20 liver cirrhosis 10.3
21 fatty liver disease 10.3
22 cytokine deficiency 10.3
23 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
24 strabismus 10.2
25 rickets 10.2
26 skin disease 10.2
27 inherited metabolic disorder 10.2
28 mechanical strabismus 10.2
29 allergic encephalomyelitis 10.2
30 metabolic myopathy 10.2
31 autoimmune disease 10.2
32 gastric cancer 10.2
33 hair whorl 10.2
34 lipodystrophy, familial partial, type 5 10.2 PLIN1 LIPE
35 epithelial-myoepithelial carcinoma 10.2 PLIN2 PLIN1
36 immune deficiency disease 10.1
37 kala-azar 1 10.1
38 leishmaniasis 10.1
39 lipodystrophy, familial partial, type 4 10.1 PNPLA2 PLIN1 LIPE ABHD5
40 ichthyosis vulgaris 10.1
41 chromosome 2q35 duplication syndrome 10.1
42 cryptorchidism, unilateral or bilateral 10.1
43 sjogren-larsson syndrome 10.1
44 ichthyosis, x-linked 10.1
45 ataxia and polyneuropathy, adult-onset 10.1
46 dermatitis, atopic 10.1
47 hepatitis c virus 10.1
48 fatty liver disease, nonalcoholic 1 10.1
49 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
50 disease by infectious agent 10.1

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 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
4 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
5 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
6 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
7 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
8 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
9 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
10 hypertriglyceridemia 58 31 frequent (33%) Frequent (79-30%) HP:0002155
11 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
12 hepatic steatosis 58 31 frequent (33%) Frequent (79-30%) HP:0001397
13 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
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 muscle weakness 31 HP:0001324
33 microtia 31 HP:0008551
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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

UMLS symptoms related to Chanarin-Dorfman Syndrome:


ataxia, muscle weakness

MGI Mouse Phenotypes related to Chanarin-Dorfman Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10 ABHD14A ABHD4 ABHD5 CHKA DGAT2 LIPE
2 adipose tissue MP:0005375 9.8 DGAT2 LIPE PLIN1 PLIN2 PLIN3 PLIN5
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 10)
# 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 Lipid Regulating Agents Phase 4
5 Clofibric Acid Phase 4 882-09-7
6 Anticholesteremic Agents Phase 4
7
Isotretinoin Approved Phase 2 4759-48-2 5538 5282379
8 Immunoglobulins Phase 2
9 Antibodies Phase 2
10 Dermatologic Agents Phase 2

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 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 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
4 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 Completed NCT03041038 Phase 2 Secukinumab;Placebo
5 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
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 International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases Recruiting NCT02918032
8 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
9 Prospective Evaluation of Infants and Children With Congenital Ichthyosis Terminated NCT02655861

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, Eye, Skin, Thyroid

Publications for Chanarin-Dorfman Syndrome

Articles related to Chanarin-Dorfman Syndrome:

(show top 50) (show all 96)
# 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 57 61
11590543 2001
2
Cerebral lipid accumulation in Chanarin-Dorfman Syndrome. 61 57
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. 57 61
3354610 1988
5
Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. 57
10712205 2000
6
Ichthyosis and neutral lipid storage disease. 57
3993689 1985
7
Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation. 57
7362208 1980
8
Lipid storage myopathy, ichthyosis, and steatorrhea. 57
545139 1979
9
Neutral-lipid storage disease: a new disorder of lipid metabolism. 57
1139147 1975
10
Muscle carnitine deficiency. Association with lipid myopathy, vacuolar neuropathy, and vacuolated leukocytes. 57
4414743 1974
11
Ichthyosiform dermatosis with systemic lipidosis. 57
4277517 1974
12
Jordans' anomaly in white blood cells. Report of case. 57
5330405 1966
13
The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva (ERB.). 57
13079655 1953
14
Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome). 61 54
16741516 2006
15
Two cases of Chanarin-Dorfman syndrome with novel and recurrent mutations in the ABHD5 gene. 61
33569812 2021
16
Chanarin-Dorfman Syndrome: A comprehensive review. 61
33455044 2021
17
Vacuolated Leukocytes in the Peripheral Blood Smear of a Child with Chanarin-Dorfman Syndrome 61
32517421 2020
18
Causes of secondary non-alcoholic fatty liver disease in non-obese children below 10 years. 61
31897838 2020
19
Chanarin-Dorfman syndrome: a novel homozygous mutation in the ABHD5 gene. 61
31486100 2020
20
Erratum: Chanarin-Dorfman syndrome: Clinical report and novel mutation in ABHD5 gene. 61
31929317 2020
21
A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings. 61
31883530 2019
22
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
23
Chanarin-Dorfman syndrome. 61
30457558 2019
24
Molecular mechanism of the ichthyosis pathology of Chanarin-Dorfman syndrome: Stimulation of PNPLA1-catalyzed ω-O-acylceramide production by ABHD5. 61
30527376 2018
25
A New Case of Chanarin-Dorfman Syndrome with a Novel Deletion in ABHD5 Gene 61
29475365 2018
26
An overview of epidermal lamellar bodies: Novel roles in biological adaptations and secondary barriers. 61
30153959 2018
27
Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents. 61
29843625 2018
28
Chanarin-Dorfman Syndrome with Absent Jordan's Anomaly. 61
28979034 2017
29
Chanarin-Dorfman syndrome. 61
28636073 2017
30
Molecular Basis of ABHD5 Lipolysis Activation. 61
28211464 2017
31
Chanarin-Dorfman syndrome with rare renal involvement. 61
27858988 2017
32
Chanarin-Dorfman Syndrome. 61
27671187 2016
33
ABHD5/CGI-58, the Chanarin-Dorfman Syndrome Protein, Mobilises Lipid Stores for Hepatitis C Virus Production. 61
27124600 2016
34
Reassessing the Potential Activities of Plant CGI-58 Protein. 61
26745266 2016
35
Chanarin-Dorfman syndrome in three siblings in a non-consanguineous family. 61
25087691 2016
36
Chanarin Dorfman syndrome: a case report with novel nonsense mutation. 61
26353074 2016
37
[Chanarin-Dorfman syndrome in a 7-year-old child: when myophathy and skin involvement are all but one]. 61
26546924 2015
38
Chanarin-Dorfman syndrome: A case report and review of the literature. 61
26520282 2015
39
Congenital ichtyosis and hetomegaly: Think about Chanarin Dorfman syndrome. 61
26757512 2015
40
The Causative Gene in Chanarian Dorfman Syndrome Regulates Lipid Droplet Homeostasis in C. elegans. 61
26083785 2015
41
Chanarin-Dorfman syndrome: a novel mutation in a Turkish girl. 61
26701953 2015
42
Education and imaging. Hepatology: Chanarin-Dorfman syndrome, a rare cause of fatty liver and steatohepatitis. 61
25865863 2015
43
Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation. 61
25682902 2015
44
Comparative gene identification-58 (CGI-58) promotes autophagy as a putative lysophosphatidylglycerol acyltransferase. 61
25315780 2014
45
Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5/CGI-58 gene. 61
23756328 2014
46
Comparative gene identification 58/α/β hydrolase domain 5 lacks lysophosphatidic acid acyltransferase activity. 61
24879803 2014
47
Chanarin-Dorfman syndrome: clinical report and novel mutation in ABHD5 gene. 61
25121381 2014
48
Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter. 61
24628803 2014
49
PNPLA2 mutation: a paediatric case with early onset but indolent course. 61
24074500 2013
50
From blood smear to lipid disorder: a case report. 61
23042024 2013

Variations for Chanarin-Dorfman Syndrome

ClinVar genetic disease variations for Chanarin-Dorfman Syndrome:

6 (show top 50) (show all 135)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABHD5 NM_016006.6(ABHD5):c.774-1G>A SNV Pathogenic 5347 3:43759162-43759162 3:43717670-43717670
2 ABHD5 NM_016006.6(ABHD5):c.98C>G (p.Ser33Ter) SNV Pathogenic 5348 rs104893675 3:43740818-43740818 3:43699326-43699326
3 ABHD5 NM_016006.6(ABHD5):c.134-2A>G SNV Pathogenic 5349 rs1575600969 3:43743705-43743705 3:43702213-43702213
4 ABHD5 NM_016006.6(ABHD5):c.389A>C (p.Gln130Pro) SNV Pathogenic 5350 rs28939077 3:43743962-43743962 3:43702470-43702470
5 ABHD5 NM_016006.6(ABHD5):c.19G>A (p.Glu7Lys) SNV Pathogenic 5351 rs104893676 3:43732503-43732503 3:43691011-43691011
6 ABHD5 NM_016006.6(ABHD5):c.778G>A (p.Glu260Lys) SNV Pathogenic 5353 rs28939078 3:43759167-43759167 3:43717675-43717675
7 ABHD5 NM_016006.6(ABHD5):c.934C>T (p.Arg312Ter) SNV Pathogenic 619125 rs761087968 3:43759323-43759323 3:43717831-43717831
8 ABHD5 NM_016006.6(ABHD5):c.811G>A (p.Gly271Arg) SNV Pathogenic 812597 rs1575607298 3:43759200-43759200 3:43717708-43717708
9 ABHD5 NM_016006.6(ABHD5):c.550C>T (p.Arg184Ter) SNV Pathogenic 973467 3:43753244-43753244 3:43711752-43711752
10 ABHD5 NM_016006.6(ABHD5):c.810T>A (p.Tyr270Ter) SNV Pathogenic 977526 3:43759199-43759199 3:43717707-43717707
11 ABHD5 NM_016006.6(ABHD5):c.594dup (p.Arg199fs) Duplication Pathogenic 5352 rs387906335 3:43753287-43753288 3:43711795-43711796
12 ABHD5 NM_016006.6(ABHD5):c.42_43AG[2] (p.Arg16fs) Microsatellite Pathogenic 5354 rs387906336 3:43732525-43732526 3:43691033-43691034
13 ABHD5 NM_016006.6(ABHD5):c.730dup (p.Thr244fs) Duplication Likely pathogenic 872540 3:43756506-43756507 3:43715014-43715015
14 ABHD5 NM_001365650.1(ABHD5):c.-64G>A SNV Uncertain significance 345210 rs564192984 3:43732421-43732421 3:43690929-43690929
15 ABHD5 NM_016006.6(ABHD5):c.*2445T>G SNV Uncertain significance 345262 rs572387719 3:43762469-43762469 3:43720977-43720977
16 ABHD5 NM_016006.6(ABHD5):c.344G>A (p.Ser115Asn) SNV Uncertain significance 587418 rs1559412343 3:43743917-43743917 3:43702425-43702425
17 ABHD5 NM_016006.6(ABHD5):c.418T>G (p.Cys140Gly) SNV Uncertain significance 902781 3:43743991-43743991 3:43702499-43702499
18 ABHD5 NM_016006.6(ABHD5):c.*1076G>A SNV Uncertain significance 902842 3:43761100-43761100 3:43719608-43719608
19 ABHD5 NM_016006.6(ABHD5):c.*2349T>C SNV Uncertain significance 902906 3:43762373-43762373 3:43720881-43720881
20 ABHD5 NM_016006.6(ABHD5):c.*2492C>T SNV Uncertain significance 902907 3:43762516-43762516 3:43721024-43721024
21 ABHD5 NM_016006.6(ABHD5):c.*2500A>G SNV Uncertain significance 902908 3:43762524-43762524 3:43721032-43721032
22 ABHD5 NM_016006.6(ABHD5):c.444C>T (p.Ile148=) SNV Uncertain significance 900235 3:43744017-43744017 3:43702525-43702525
23 ABHD5 NM_016006.6(ABHD5):c.961-15C>T SNV Uncertain significance 900236 3:43759920-43759920 3:43718428-43718428
24 ABHD5 NM_016006.6(ABHD5):c.984T>C (p.Tyr328=) SNV Uncertain significance 900237 3:43759958-43759958 3:43718466-43718466
25 ABHD5 NM_016006.6(ABHD5):c.*1485A>T SNV Uncertain significance 900284 3:43761509-43761509 3:43720017-43720017
26 ABHD5 NM_016006.6(ABHD5):c.*1537C>G SNV Uncertain significance 900285 3:43761561-43761561 3:43720069-43720069
27 ABHD5 NM_016006.6(ABHD5):c.*1596A>T SNV Uncertain significance 900286 3:43761620-43761620 3:43720128-43720128
28 ABHD5 NM_016006.6(ABHD5):c.*2540A>G SNV Uncertain significance 900348 3:43762564-43762564 3:43721072-43721072
29 ABHD5 NM_016006.6(ABHD5):c.*3171G>T SNV Uncertain significance 900349 3:43763195-43763195 3:43721703-43721703
30 ABHD5 NM_016006.6(ABHD5):c.-48C>T SNV Uncertain significance 901332 3:43732437-43732437 3:43690945-43690945
31 ABHD5 NM_016006.6(ABHD5):c.*57T>C SNV Uncertain significance 901386 3:43760081-43760081 3:43718589-43718589
32 ABHD5 NM_016006.6(ABHD5):c.*1009T>A SNV Uncertain significance 345233 rs781163659 3:43761033-43761033 3:43719541-43719541
33 ABHD5 NM_016006.6(ABHD5):c.*1201G>A SNV Uncertain significance 345236 rs886058490 3:43761225-43761225 3:43719733-43719733
34 ABHD5 NM_016006.6(ABHD5):c.430T>C (p.Leu144=) SNV Uncertain significance 345219 rs767197048 3:43744003-43744003 3:43702511-43702511
35 ABHD5 NM_016006.6(ABHD5):c.*3833G>T SNV Uncertain significance 345282 rs539827619 3:43763857-43763857 3:43722365-43722365
36 ABHD5 NM_016006.6(ABHD5):c.*1566G>A SNV Uncertain significance 345242 rs554908983 3:43761590-43761590 3:43720098-43720098
37 ABHD5 NM_016006.6(ABHD5):c.*1371A>G SNV Uncertain significance 345239 rs886058492 3:43761395-43761395 3:43719903-43719903
38 ABHD5 NM_016006.6(ABHD5):c.*2304G>T SNV Uncertain significance 345259 rs886058498 3:43762328-43762328 3:43720836-43720836
39 ABHD5 NM_016006.6(ABHD5):c.*3755G>A SNV Uncertain significance 345279 rs551893817 3:43763779-43763779 3:43722287-43722287
40 ABHD5 NM_016006.6(ABHD5):c.*2057A>T SNV Uncertain significance 345256 rs886058497 3:43762081-43762081 3:43720589-43720589
41 ABHD5 NM_016006.6(ABHD5):c.*154A>C SNV Uncertain significance 901388 3:43760178-43760178 3:43718686-43718686
42 ABHD5 NM_016006.6(ABHD5):c.*227T>C SNV Uncertain significance 901389 3:43760251-43760251 3:43718759-43718759
43 ABHD5 NM_016006.6(ABHD5):c.*3292G>A SNV Uncertain significance 901503 3:43763316-43763316 3:43721824-43721824
44 ABHD5 NM_016006.6(ABHD5):c.*3700T>C SNV Uncertain significance 901504 3:43763724-43763724 3:43722232-43722232
45 ABHD5 NM_016006.6(ABHD5):c.11A>C (p.Glu4Ala) SNV Uncertain significance 901881 3:43732495-43732495 3:43691003-43691003
46 ABHD5 NM_016006.6(ABHD5):c.43G>A (p.Glu15Lys) SNV Uncertain significance 901882 3:43732527-43732527 3:43691035-43691035
47 ABHD5 NM_016006.6(ABHD5):c.48-4C>G SNV Uncertain significance 748282 rs183345998 3:43740764-43740764 3:43699272-43699272
48 ABHD5 NM_016006.6(ABHD5):c.*392T>G SNV Uncertain significance 901942 3:43760416-43760416 3:43718924-43718924
49 ABHD5 NM_016006.6(ABHD5):c.*464A>G SNV Uncertain significance 901943 3:43760488-43760488 3:43718996-43718996
50 ABHD5 NM_016006.6(ABHD5):c.*848C>T SNV Uncertain significance 901944 3:43760872-43760872 3:43719380-43719380

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
13.79 PNPLA5 PNPLA2 PLIN3 PLIN2 PLIN1 MGLL
2
Show member pathways
12.6 PNPLA5 PLIN3 PLIN2 PLIN1 DGAT2
3
Show member pathways
12.58 PNPLA2 MGLL MBOAT2 DGAT2 CHKA ABHD4
4
Show member pathways
12.29 PLIN1 MGLL LIPE ABHD5
5 11.77 PLIN2 PLIN1 LIPE
6 11.46 PLIN5 PLIN2 PLIN1
7 11.34 PNPLA2 MGLL MBOAT2 DGAT2
8
Show member pathways
11.2 PNPLA2 MBOAT2 LIPE DGAT2 ABHD5
9 10.78 PNPLA2 PLIN1 MGLL LIPE ABHD5
10 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 cytosol GO:0005829 9.93 PNPLA5 PNPLA2 PLIN5 PLIN3 PLIN2 PLIN1
2 endoplasmic reticulum membrane GO:0005789 9.43 PNPLA2 MIA2 MGLL MBOAT2 DGAT2 ABHD4
3 lipid droplet GO:0005811 9.36 PNPLA5 PNPLA2 PNPLA1 PLIN5 PLIN3 PLIN2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 lipid homeostasis GO:0055088 9.72 PNPLA5 PNPLA2 PNPLA1 ABHD5 ABHD4
2 phospholipid biosynthetic process GO:0008654 9.65 MBOAT2 CHKA ABHD5
3 triglyceride catabolic process GO:0019433 9.65 PNPLA5 PNPLA2 PNPLA1 MGLL LIPE
4 retinol metabolic process GO:0042572 9.61 PNPLA2 LIPE DGAT2
5 positive regulation of sequestering of triglyceride GO:0010890 9.58 PLIN5 PLIN3 PLIN2
6 phosphatidylethanolamine acyl-chain remodeling GO:0036152 9.56 MBOAT2 ABHD4
7 lipid droplet organization GO:0034389 9.55 PNPLA2 PLIN5
8 lipid storage GO:0019915 9.55 PNPLA2 PLIN5 PLIN3 PLIN2 DGAT2
9 positive regulation of triglyceride biosynthetic process GO:0010867 9.54 PLIN5 DGAT2
10 acylglycerol acyl-chain remodeling GO:0036155 9.54 PNPLA2 MGLL DGAT2
11 positive regulation of triglyceride catabolic process GO:0010898 9.52 PNPLA2 ABHD5
12 diacylglycerol biosynthetic process GO:0006651 9.51 PNPLA2 DGAT2
13 lipid catabolic process GO:0016042 9.5 PNPLA5 PNPLA2 PNPLA1 PLIN1 MGLL LIPE
14 monoacylglycerol catabolic process GO:0052651 9.49 MGLL ABHD16B
15 negative regulation of sequestering of triglyceride GO:0010891 9.46 PNPLA2 ABHD5
16 lipid metabolic process GO:0006629 9.36 PNPLA5 PNPLA2 PNPLA1 PLIN1 MGLL MBOAT2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring acyl groups GO:0016746 9.67 MBOAT2 DGAT2 ABHD5
2 hydrolase activity GO:0016787 9.65 PNPLA5 PNPLA2 PNPLA1 MGLL LIPE ADPRH
3 carboxylic ester hydrolase activity GO:0052689 9.5 MGLL ABHD5 ABHD4
4 lysophospholipase activity GO:0004622 9.48 MGLL ABHD4
5 transferase activity, transferring acyl groups other than amino-acyl groups GO:0016747 9.46 PNPLA1 DGAT2
6 lipase activity GO:0016298 9.43 MGLL LIPE
7 1-acylglycerol-3-phosphate O-acyltransferase activity GO:0003841 9.4 MBOAT2 ABHD5
8 lysophosphatidic acid acyltransferase activity GO:0042171 9.37 ABHD5 ABHD4
9 acylglycerol lipase activity GO:0047372 9.33 MGLL LIPE ABHD16B
10 retinyl-palmitate esterase activity GO:0050253 9.26 PNPLA2 LIPE
11 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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