HCC
MCID: HYP143
MIFTS: 41

Hypomyelination and Congenital Cataract (HCC) malady

Neuronal diseases, Eye diseases, Liver diseases, Cancer diseases categories

Summaries for Hypomyelination and Congenital Cataract

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21Genetics Home Reference, 46OMIM, 19GeneReviews, 32MalaCards
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Genetics Home Reference:21 Hypomyelination and congenital cataract is an inherited condition that affects the nervous system and the eyes. This disease is one of a group of genetic disorders called leukoencephalopathies. Leukoencephalopathies involve abnormalities of the brain's white matter. White matter consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. Hypomyelination and congenital cataract is caused by a reduced ability to form myelin (hypomyelination). Additionally, people with this disorder are typically born with a clouding of the lens (cataract) in both eyes.

MalaCards: Hypomyelination and Congenital Cataract, also known as hypomyelination - congenital cataract, is related to hypokalemic periodic paralysis and hepatocellular carcinoma, and has symptoms including intellectual deficit/mental/psychomotor retardation/learning disabilityand cataract/lens opacification. An important gene associated with Hypomyelination and Congenital Cataract is FAM126A (family with sequence similarity 126, member A). The drugs interferon alfa-2a and interferon alfa-2b have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and brain.

Description from OMIM:46 610532

GeneReviews summary for hypo-mcc

Aliases & Classifications for Hypomyelination and Congenital Cataract

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60UMLS, 21Genetics Home Reference, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 48Orphanet, 46OMIM, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases
Anatomical: Neuronal diseases, Eye diseases, Liver diseases


Characteristics (Orphanet epidemiological data):

48
hypomyelination - congenital cataract:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hypomyelination and congenital cataract 19 42 21
hypomyelination - congenital cataract 42 20 22 48
leukodystrophy, hypomyelinating, 5 42 46 60
hypokalemic periodic paralysis 60
liver carcinoma 60
hld5 42
hcc 21


External Ids:

OMIM46 610532
ICD10 via Orphanet26 G37.8

Related Diseases for Hypomyelination and Congenital Cataract

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Hypomyelination and Congenital Cataract:



Diseases related to hypomyelination and congenital cataract

Clinical Features for Hypomyelination and Congenital Cataract

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46OMIM, 48Orphanet
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Clinical features from OMIM:

610532

Clinical synopsis from OMIM:

610532

Symptoms:

48
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • cataract/lens opacification

Drugs & Therapeutics for Hypomyelination and Congenital Cataract

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Hypomyelination and Congenital Cataract

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Hypomyelination and Congenital Cataract

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20GeneTests, 22GTR
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Genetic tests related to Hypomyelination and Congenital Cataract:

id Genetic test Affiliating Genes
1 Hypomyelination and Congenital Cataract20 22 FAM126A

Anatomical Context for Hypomyelination and Congenital Cataract

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32MalaCards
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MalaCards organs/tissues related to Hypomyelination and Congenital Cataract:

32
Eye, Liver, Brain

Animal Models for Hypomyelination and Congenital Cataract or affiliated genes

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Publications for Hypomyelination and Congenital Cataract

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50PubMed
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Articles related to Hypomyelination and Congenital Cataract:

idTitleAuthorsYear
1
Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families. (22749724)
2013
2
Novel FAM126A mutations in hypomyelination and congenital cataract disease. (23998934)
2013
3
Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein. (22461884)
2012
4
Hypomyelination and congenital cataract: broadening the clinical phenotype. (21911699)
2011
5
Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder. (17974614)
2008
6
Phenotypic characterization of hypomyelination and congenital cataract. (17683097)
2007
7
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. (16951682)
2006
8
Hypomyelination and Congenital Cataract (20301737)
1993

Genetic Variations for Hypomyelination and Congenital Cataract

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Hypomyelination and Congenital Cataract:

62
id Symbol AA change Variation ID SNP ID
1FAM126Ap.Leu53ProVAR_030647

Expression for genes affiliated with Hypomyelination and Congenital Cataract

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hypomyelination and Congenital Cataract

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Pathways for genes affiliated with Hypomyelination and Congenital Cataract

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Compounds for genes affiliated with Hypomyelination and Congenital Cataract

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GO Terms for genes affiliated with Hypomyelination and Congenital Cataract

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Products for genes affiliated with Hypomyelination and Congenital Cataract

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hypomyelination and Congenital Cataract

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet