MCID: HYP143
MIFTS: 35

Hypomyelination and Congenital Cataract malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Liver diseases, Cancer diseases categories

Summaries for Hypomyelination and Congenital Cataract

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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 based summary: Hypomyelination and Congenital Cataract, also known as hypomyelination - congenital cataract, is related to hepatocellular carcinoma and cataract, and has symptoms including cataract, cognitive impairment and 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, brain and liver.

GeneReviews summary for hypo-mcc

Aliases & Classifications for Hypomyelination and Congenital Cataract

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Hypomyelination and Congenital Cataract, Aliases & Descriptions:

Name: Hypomyelination and Congenital Cataract 19 41 21 60
Hypomyelination - Congenital Cataract 41 20 47 22
Leukodystrophy, Hypomyelinating, 5 41
 
Liver Carcinoma 60
Hld5 41
Hcc 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
hypomyelination - congenital cataract:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Orphanet47 85163
ICD10 via Orphanet26 G37.8

Related Diseases for Hypomyelination and Congenital Cataract

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Graphical network of the top 20 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:

 47
  • cataract/lens opacification
  • intellectual deficit/mental/psychomotor retardation/learning disability

HPO human phenotypes related to Hypomyelination and Congenital Cataract:

id Description Frequency HPO Source Accession
1 cataract hallmark (90%) HP:0000518
2 cognitive impairment hallmark (90%) HP:0100543

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 Cataract20 22 FAM126A

Anatomical Context for Hypomyelination and Congenital Cataract

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MalaCards organs/tissues related to Hypomyelination and Congenital Cataract:

31
Eye, Brain, Liver

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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Clinvar genetic disease variations for Hypomyelination and Congenital Cataract:

6
id Gene Variation Type Significance SNP ID Assembly Location
1FAM126ANM_032581.3(FAM126A): c.51+1G> Asingle nucleotide variantPathogenicrs72549405GRCh37Chr 7, 23030679: 23030679
2FAM126ANM_032581.3(FAM126A): c.414+1G> Tsingle nucleotide variantPathogenicrs72549406GRCh37Chr 7, 23016959: 23016959
3FAM126ANM_032581.3(FAM126A): c.158T> C (p.Leu53Pro)single nucleotide variantPathogenicrs72549407GRCh37Chr 7, 23018063: 23018063
4FAM126AFAM126A, 4-KB DELdeletionPathogenic
5PIK3CANM_006218.2(PIK3CA): c.3140A> G (p.His1047Arg)single nucleotide variantPathogenicrs121913279GRCh37Chr 3, 178952085: 178952085
6FAM126AFAM126A: c.627-439_831+348deldeletionPathogenicrs80338793GRCh37Chr 7, 23000506: 23004589

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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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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Cellular components related to Hypomyelination and Congenital Cataract according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:00058869.1FAM126A, PIK3CA

Products for genes affiliated with Hypomyelination and Congenital Cataract

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hypomyelination and Congenital Cataract

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet