Hypomyelinating Leukodystrophy-8

Preferred Label : Hypomyelinating Leukodystrophy-8;

NCIt synonyms : 4H Syndrome; Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome; HLD8;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the POLR3B gene, encoding DNA-directed RNA polymerase III subunit RPC2. It is characterized by early onset cerebellar ataxia and mild intellectual disability. Diffuse cerebral hypomyelination and cerebellar atrophy are apparent on MRI. Hypogonadotropic hypogonadism and hypodontia are also features of this condition.;

Details

Origin ID

C180850;

UMLS CUI

C3280644;

Currated CISMeF NLP mapping
- Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) [SNOMED CT concept]
- Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome [ORDO Disease]
- Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism [OMIM Phenotype]
- hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism [DO Concept]
Has associated anatomic sites
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism [OMIM Phenotype]
- cerebellar hypoplasia with endosteal sclerosis [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- POLR3B Gene [NCIt concept]

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