MCID: HYP143
MIFTS: 30

Hypomyelination and Congenital Cataract malady

Categories: Genetic diseases, Rare 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 22 46 23 24 66
Hcc 23 24
Hypomyelination with Congenital Cataract 25
Hypomyelination - Congenital Cataract 46
 
Leukodystrophy, Hypomyelinating, 5 46
Hypomyelinating Leukodystrophy 5 23
Liver Carcinoma 66
Hld5 46

Classifications:



Summaries for Hypomyelination and Congenital Cataract

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Genetics Home Reference:24 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 leukodystrophy, hypomyelinating, 5 and hepatocellular carcinoma, and has symptoms including pyramidal sign, action tremor and abdominal pain. An important gene associated with Hypomyelination and Congenital Cataract is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha). The drugs interferon alfa-2a and interferon alfa-2b have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and eye, and related mouse phenotype no phenotypic analysis.

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
1leukodystrophy, hypomyelinating, 512.4
2hepatocellular carcinoma11.9
3childhood hepatocellular carcinoma11.4
4thyroid carcinoma, hurthle cell11.0
5cataract10.4
6leukodystrophy10.0
7neuronitis10.0
8irf6-related disorders9.5FAM126A, PIK3CA

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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UMLS symptoms related to Hypomyelination and Congenital Cataract:


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

Drugs & Therapeutics for Hypomyelination and Congenital Cataract

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Hypomyelination and Congenital Cataract

Inferred drug relations via UMLS66/NDF-RT44:

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 Cataract25 23 FAM126A

Anatomical Context for Hypomyelination and Congenital Cataract

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MalaCards organs/tissues related to Hypomyelination and Congenital Cataract:

34
Liver, Brain, Eye

Animal Models for Hypomyelination and Congenital Cataract or affiliated genes

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MGI Mouse Phenotypes related to Hypomyelination and Congenital Cataract:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.1FAM126A, PIK3CA

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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Clinvar genetic disease variations for Hypomyelination and Congenital Cataract:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PIK3CANM_006218.3(PIK3CA): c.3140A> G (p.His1047Arg)single nucleotide variantPathogenicrs121913279GRCh37Chr 3, 178952085: 178952085

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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Biological processes related to Hypomyelination and Congenital Cataract according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol phosphorylationGO:00468549.1FAM126A, PIK3CA

Sources for Hypomyelination and Congenital Cataract

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet