Leukodystrophy, Hypomyelinating, 5 malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Blood diseases, Liver diseases, Cancer diseases
Aliases & Descriptions for Leukodystrophy, Hypomyelinating, 5:
Orphanet epidemiological data:53
hypomyelination-congenital cataract syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Neuronal diseases, Eye diseases, Blood diseases, Liver diseases
ICD10: 30 29
Genetics Home Reference:25 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: Leukodystrophy, Hypomyelinating, 5, also known as hypomyelination and congenital cataract, is related to hepatocellular carcinoma and childhood hepatocellular carcinoma, and has symptoms including cataract, cognitive impairment and congenital cataract. An important gene associated with Leukodystrophy, Hypomyelinating, 5 is FAM126A (Family With Sequence Similarity 126 Member A). The drugs interferon alfa-2b and recombinant interferon beta-1a have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and brain, and related mouse phenotype no phenotypic analysis.
Disease Ontology:11 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has material basis in homozygous mutation in the FAM126A gene on chromosome 7p15.
UniProtKB/Swiss-Prot:69 Leukodystrophy, hypomyelinating, 5: A hypomyelinating leukodystrophy associated with congenital cataract. It is clinically characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. Affected individuals experience progressive pyramidal and cerebellar dysfunction, muscle weakness and wasting prevailingly in the lower limbs. Mental deficiency ranges from mild to moderate. HLD5 shows clinical variability, but features of hypomyelination combined with increased periventricular white matter water content are consistently observed.
Description from OMIM:51 610532
GeneReviews for NBK2587
Human phenotypes related to Leukodystrophy, Hypomyelinating, 5:63 53 (show all 25)
UMLS symptoms related to Leukodystrophy, Hypomyelinating, 5:pyramidal sign, action tremor, abdominal pain, hepatomegaly, malaise
Interventional clinical trials:
Inferred drug relations via UMLS67/NDF-RT45:
MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 5:35
Eye, Liver, Brain, Cerebellum
UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 5:69
Clinvar genetic disease variations for Leukodystrophy, Hypomyelinating, 5:5
Search GEO for disease gene expression data for Leukodystrophy, Hypomyelinating, 5.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet