HCC
MCID: HYP143
MIFTS: 29

Hypomyelination and Congenital Cataract (HCC) malady

Neuronal, Eye, Liver, Cancer categories

Summaries for Hypomyelination and Congenital Cataract

Sources:
21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
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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: Hypomyelination and Congenital Cataract, also known as hypomyelination - congenital cataract, is related to thyrotoxic periodic paralysis and renal tubular acidosis, 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 brain.

Description from OMIM:47 610532

GeneReviews summary for hypo-mcc

Aliases & Classifications for Hypomyelination and Congenital Cataract

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer
Anatomical: Neuronal, Eye, Liver


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 61
hypokalemic periodic paralysis 61
liver carcinoma 61
hypopp 19
hokpp 19
hld5 43
hcc 21


External Ids:

OMIM47 610532
ICD10 via Orphanet26 G37.8

Related Diseases for Hypomyelination and Congenital Cataract

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Hypomyelination and Congenital Cataract via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1thyrotoxic periodic paralysis11.1
2renal tubular acidosis10.7
3cataract, congenital10.7
4thyrotoxicosis10.7
5graves' disease10.5
6renal tubular acidosis, distal10.5
7hypokalemic periodic paralysis type 210.5
8malignant hyperthermia10.5
9hepatitis c10.5
10microphthalmia10.5
11microphthalmia syndromic 710.4
12hepatitis d10.4
13sjogren's syndrome10.4
14hypophosphatemia10.4
15gitelman syndrome10.4
16hypokalemia10.4
17hepatitis e10.4
18hepatitis a10.3
19hepatitis c virus10.3
20hypokalemic periodic paralysis10.3
21congenital diaphragmatic hernia10.3
22hyperkalemic periodic paralysis type 210.2
23protein c deficiency10.2
24membranoproliferative glomerulonephritis10.2
25wolff-parkinson-white syndrome10.2
26hyperuricemia10.2
27andersen-tawil syndrome10.2
28superior mesenteric artery syndrome10.2
29diabetes insipidus10.2
30amelogenesis imperfecta10.2
31tropical sprue10.2
32gynecomastia10.2
33hyperkalemic periodic paralysis10.2
34nephrogenic diabetes insipidus10.2
35bidirectional tachycardia10.2
36growth hormone deficiency10.2
37westphal disease10.2
38thymic hyperplasia10.2
39myotonia10.2
40thyroid adenoma10.2
41primary renal tubular acidosis10.2
42ocular albinism10.2
43microphthalmia with linear skin defects syndrome10.2
44thyroiditis10.2
45hypokalemic periodic paralysis type 110.2
46rett syndrome10.1
47barth syndrome10.1
48focal dermal hypoplasia10.1
49portal vein thrombosis10.1
50adenoma10.1

Graphical network of the top 20 diseases related to Hypomyelination and Congenital Cataract:



Diseases related to hypomyelination and congenital cataract

Clinical Features for Hypomyelination and Congenital Cataract

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

610532

Clinical synopsis from OMIM:

610532

Symptoms:

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

Drugs & Therapeutics for Hypomyelination and Congenital Cataract

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Hypomyelination and Congenital Cataract

Search NIH Clinical Center for Hypomyelination and Congenital Cataract

Search CenterWatch for Hypomyelination and Congenital Cataract

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Hypomyelination and Congenital Cataract

Sources:
20GeneTests, 22GTR
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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

Sources:
33MalaCards
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MalaCards organs/tissues related to Hypomyelination and Congenital Cataract:

33
Liver, Brain

Animal Models for Hypomyelination and Congenital Cataract or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Hypomyelination and Congenital Cataract

Genetic Variations for Hypomyelination and Congenital Cataract

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Hypomyelination and Congenital Cataract:

63
id Symbol AA change Variation SNP ID
1FAM126Ap.Leu53ProVAR_030647

Expression for genes affiliated with Hypomyelination and Congenital Cataract

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Hypomyelination and Congenital Cataract

GO Terms for genes affiliated with Hypomyelination and Congenital Cataract

Products for genes affiliated with Hypomyelination and Congenital Cataract

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hypomyelination and Congenital Cataract

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet