Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism

Preferred Label : Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism;

Symbol : HLD8;

CISMeF acronym : HLD8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 4h leukodystrophy 2; Cerebellar hypoplasia with endosteal sclerosis;

Description : Hypomyelinating leukodystrophy-8 is an autosomal recessive neurologic disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism (summary by Tetreault et al., 2011). See also HLD7 (607694), which has similar features and is caused by mutation in the POLR3A gene (614258) on chromosome 10q22. The POLR3A and;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the RNA polymerase III, subunit B gene (POLR3B, 614366.0001);

Prefixed ID : #614381;

Details

Origin ID

614381;

UMLS CUI

C3280644;

Automatic exact mappings (from CISMeF team)
- Endosteal sclerosis-cerebellar hypoplasia syndrome [ORDO Disease]
- POLR3B wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Hypomyelinating Leukodystrophy-8 [NCIt concept]
- Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) [SNOMED CT concept]
- Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome [ORDO Disease]
- hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism [DO Concept]
DO Cross reference
- hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism [DO Concept]
Genes related to phenotype
- Polymerase III, rna, subunit b [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- CNS hypomyelination [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebellar vermis atrophy [HPO term]
- Cerebral hypomyelination [HPO term]
- Childhood onset [HPO term]
- Congenital onset [HPO term]
- Delayed eruption of teeth [HPO term]
- Delayed speech and language development [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Dysmetria [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Gait ataxia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- High myopia [HPO term]
- Hip dislocation [HPO term]
- Horizontal nystagmus [HPO term]
- Hyperreflexia [HPO term]
- Hypodontia [HPO term]
- Hypogonadotropic hypogonadism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Impaired horizontal smooth pursuit [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, mild [HPO term]
- Intellectual disability, moderate [HPO term]
- Intention tremor [HPO term]
- Leukodystrophy [HPO term]
- Myopia [HPO term]
- Natal tooth [HPO term]
- Oligodontia [HPO term]
- Optic atrophy [HPO term]
- Short stature [HPO term]
- Spasticity [HPO term]
- Thin corpus callosum [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Endosteal sclerosis-cerebellar hypoplasia syndrome [ORDO Disease]
- Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypomyelinating Leukodystrophy-8 [NCIt concept]
- cerebellar hypoplasia with endosteal sclerosis [MeSH Supplementary Concept]
- hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism [DO Concept]

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