HCC
MCID: HYP143
MIFTS: 36

Hypomyelination and Congenital Cataract (HCC) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Liver diseases, Cancer diseases categories
Download this MalaCard

Summaries for Hypomyelination and Congenital Cataract

About this section
Sources:
21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

Fully expand this MalaCard
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 hepatocellular carcinoma and cataract, 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 liver and eye.

Description from OMIM:47 610532

GeneReviews summary for hypo-mcc

Aliases & Classifications for Hypomyelination and Congenital Cataract

About this section
Sources:
62UMLS, 21Genetics Home Reference, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 49Orphanet, 47OMIM, 26ICD10 via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

49
hypomyelination - congenital cataract:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hypomyelination and congenital cataract 19 43 21
hypomyelination - congenital cataract 43 20 22 49
leukodystrophy, hypomyelinating, 5 43 47 62
hypokalemic periodic paralysis 62
liver carcinoma 62
hld5 43
hcc 21


External Ids:

OMIM47 610532
ICD10 via Orphanet26 G37.8

Related Diseases for Hypomyelination and Congenital Cataract

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
47OMIM, 49Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

610532

Clinical features from OMIM:

610532

Symptoms:

49
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • cataract/lens opacification

Drugs & Therapeutics for Hypomyelination and Congenital Cataract

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
See all sources

Genetic Tests for Hypomyelination and Congenital Cataract

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Hypomyelination and Congenital Cataract:

33
Liver, Eye

Animal Models for Hypomyelination and Congenital Cataract or affiliated genes

About this section

Publications for Hypomyelination and Congenital Cataract

About this section
Sources:
52PubMed
See all sources

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
Hypomyelination and congenital cataract: broadening the clinical phenotype. (21911699)
2011
4
Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder. (17974614)
2008
5
Phenotypic characterization of hypomyelination and congenital cataract. (17683097)
2007
6
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. (16951682)
2006
7
Hypomyelination and Congenital Cataract (20301737)
1993

Variations for Hypomyelination and Congenital Cataract

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

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

64
id Symbol AA change Variation ID SNP ID
1FAM126Ap.Leu53ProVAR_030647

Clinvar genetic disease variations for Hypomyelination and Congenital Cataract:

1
id Gene Name 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

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Hypomyelination and Congenital Cataract

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

Pathways for genes affiliated with Hypomyelination and Congenital Cataract

About this section

Compounds for genes affiliated with Hypomyelination and Congenital Cataract

About this section

GO Terms for genes affiliated with Hypomyelination and Congenital Cataract

About this section

Products for genes affiliated with Hypomyelination and Congenital Cataract

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hypomyelination and Congenital Cataract

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet