HCC
MCID: HYP143
MIFTS: 36

Hypomyelination and Congenital Cataract (HCC) malady

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

Summaries for Hypomyelination and Congenital Cataract

About this section


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 based summary: Hypomyelination and Congenital Cataract, also known as hypomyelination - congenital cataract, is related to hepatocellular carcinoma and cataract, and has symptoms including cataract/lens opacificationand intellectual deficit/mental/psychomotor retardation/learning disability. 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.

Description from OMIM:46 610532

GeneReviews summary for hypo-mcc

Aliases & Classifications for Hypomyelination and Congenital Cataract

About this section

Hypomyelination and Congenital Cataract, Aliases & Descriptions:

Name: Hypomyelination and Congenital Cataract 19 42 21
Hypomyelination - Congenital Cataract 42 20 22 48
Leukodystrophy, Hypomyelinating, 5 42 46 62
 
Hcc 21 62
Hld5 42


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
hypomyelination - congenital cataract:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 610532
ICD10 via Orphanet26 G37.8

Related Diseases for Hypomyelination and Congenital Cataract

About this section

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

Symptoms by clinical synopsis from OMIM:

610532

Clinical features from OMIM:

610532

Symptoms:

48
  • cataract/lens opacification
  • intellectual deficit/mental/psychomotor retardation/learning disability

HPO human phenotypes related to Hypomyelination and Congenital Cataract:

(show all 24)
id Description Frequency HPO Source Accession
1 cataract hallmark (90%) HP:0000518
2 cognitive impairment hallmark (90%) HP:0100543
3 autosomal recessive inheritance HP:0000007
4 congenital cataract HP:0000519
5 intellectual disability HP:0001249
6 seizures HP:0001250
7 dysarthria HP:0001260
8 motor delay HP:0001270
9 polyneuropathy HP:0001271
10 abnormality of the cerebellum HP:0001317
11 hyperreflexia HP:0001347
12 intention tremor HP:0002080
13 leukodystrophy HP:0002415
14 scoliosis HP:0002650
15 decreased motor nerve conduction velocity HP:0003431
16 babinski sign HP:0003487
17 infantile onset HP:0003593
18 variable expressivity HP:0003828
19 loss of ability to walk HP:0006957
20 lower limb amyotrophy HP:0007210
21 lower limb muscle weakness HP:0007340
22 muscular hypotonia of the trunk HP:0008936
23 cerebral white matter atrophy HP:0012762
24 truncal titubation HP:0030147

Drugs & Therapeutics for Hypomyelination and Congenital Cataract

About this section

Genetic Tests for Hypomyelination and Congenital Cataract

About this section

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

MalaCards organs/tissues related to Hypomyelination and Congenital Cataract:

32
Eye, Brain

Animal Models for Hypomyelination and Congenital Cataract or affiliated genes

About this section

Publications for Hypomyelination and Congenital Cataract

About this section

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

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:

6
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
5FAM126AFAM126A: c.627-439_831+348deldeletionPathogenicrs80338793GRCh37Chr 7, 23000506: 23004589

Expression for genes affiliated with Hypomyelination and Congenital Cataract

About this section
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

Sources for Hypomyelination and Congenital Cataract

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet