MCID: HYP143
MIFTS: 31

Hypomyelination and Congenital Cataract malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Liver diseases, Cancer diseases

Aliases & Classifications for Hypomyelination and Congenital Cataract

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Aliases & Descriptions for Hypomyelination and Congenital Cataract:

Name: Hypomyelination and Congenital Cataract 21 45 22 23 65
Hcc 22 23
Hypomyelination-Congenital Cataract Syndrome 51
Hypomyelination with Congenital Cataract 24
Hypomyelination - Congenital Cataract 45
 
Leukodystrophy, Hypomyelinating, 5 45
Hypomyelinating Leukodystrophy 5 22
Liver Carcinoma 65
Hld5 45

Characteristics:

Orphanet epidemiological data:

51
hypomyelination-congenital cataract syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet51 85163
ICD10 via Orphanet28 G37.8
UMLS65 C1864663, C2239176

Summaries for Hypomyelination and Congenital Cataract

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Genetics Home Reference:23 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 based summary: Hypomyelination and Congenital Cataract, also known as hcc, is related to hepatocellular carcinoma and leukodystrophy, hypomyelinating, 5, and has symptoms including cataract/lens opacification, intellectual deficit/mental/psychomotor retardation/learning disability and malaise. 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 liver, eye and brain.

GeneReviews summary for NBK2587

Related Diseases for Hypomyelination and Congenital Cataract

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Diseases related to Hypomyelination and Congenital Cataract via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hepatocellular carcinoma11.9
2leukodystrophy, hypomyelinating, 511.1
3pediatric hepatocellular carcinoma11.1
4thyroid carcinoma, hurthle cell11.0
5fibrolamellar carcinoma10.9
6cataract10.4
7leukodystrophy10.0
8neuronitis10.0

Graphical network of diseases related to Hypomyelination and Congenital Cataract:



Diseases related to hypomyelination and congenital cataract

Symptoms for Hypomyelination and Congenital Cataract

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Symptoms:

 51
  • cataract/lens opacification
  • intellectual deficit/mental/psychomotor retardation/learning disability

UMLS symptoms related to Hypomyelination and Congenital Cataract:


malaise, hepatomegaly, abdominal pain, action tremor, pyramidal sign

Drugs & Therapeutics for Hypomyelination and Congenital Cataract

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Genetic Tests for Hypomyelination and Congenital Cataract

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Genetic tests related to Hypomyelination and Congenital Cataract:

id Genetic test Affiliating Genes
1 Hypomyelination and Congenital Cataract22 FAM126A

Anatomical Context for Hypomyelination and Congenital Cataract

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MalaCards organs/tissues related to Hypomyelination and Congenital Cataract:

33
Liver, Eye, Brain, Thyroid, Lung, Testes, T cells

Animal Models for Hypomyelination and Congenital Cataract or affiliated genes

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Publications for Hypomyelination and Congenital Cataract

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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

Variations for Hypomyelination and Congenital Cataract

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Expression for genes affiliated with Hypomyelination and Congenital Cataract

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Search GEO for disease gene expression data for Hypomyelination and Congenital Cataract.

Pathways 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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Sources for Hypomyelination and Congenital Cataract

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet