MCID: HYP143
MIFTS: 35

Hypomyelination and Congenital Cataract malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases categories

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 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 and brain.

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 21 43 23
Hypomyelination - Congenital Cataract 43 22 49 24
Leukodystrophy, Hypomyelinating, 5 43 62
 
Hcc 23 62
Hld5 43


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
hypomyelination - congenital cataract:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Orphanet49 85163
ICD10 via Orphanet28 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:

 49
  • 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 Cataract22 24 FAM126A

Anatomical Context for Hypomyelination and Congenital Cataract

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MalaCards organs/tissues related to Hypomyelination and Congenital Cataract:

33
Eye, 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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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:

7
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
5FAM126AFAM126A: 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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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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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet