Leukodystrophy, hypomyelinating, 2

Preferred Label : Leukodystrophy, hypomyelinating, 2;

Symbol : HLD2;

CISMeF acronym : HLD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PMLD1; Pelizaeus-merzbacher-like disease, 1;

Description : For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080. The hypomyelinating leukodystrophy Pelizaeus-Merzbacher disease (PMD; 312080) is an X-linked disorder characterized by nystagmus, progressive spasticity, and ataxia. Uhlenberg et al. (2004) described patients with a PMD-like phenotype inherited as an autosomal recessive trait.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the gap junction alpha-12 gene (GJA12, 608803.0001);

Prefixed ID : #608804;

Details

Origin ID

608804;

UMLS CUI

C1837355;

Currated CISMeF NLP mapping
- Pelizaeus-Merzbacher-like disease [ICD-11 Subcategory]
- Pelizaeus-Merzbacher-like disease [ORDO Disease]
- Pelizaeus-Merzbacher-like disease due to GJC2 mutation [ORDO Disease]
- hypomyelinating leukodystrophy 2 [DO Concept]
- leukodystrophy, hypomyelinating, 2 [MeSH concept]
- leukodystrophy, hypomyelinating, 2 [MeSH Supplementary Concept]
DO Cross reference
- hypomyelinating leukodystrophy 2 [DO Concept]
Genes related to phenotype
- Gap junction protein, gamma-2 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral hypomyelination [HPO term]
- Choreoathetosis [HPO term]
- Cognitive impairment [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Demyelinating motor neuropathy [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Facial palsy [HPO term]
- Global developmental delay [HPO term]
- Head titubation [HPO term]
- Infantile onset [HPO term]
- Intention tremor [HPO term]
- Leukodystrophy [HPO term]
- Motor delay [HPO term]
- Myopia [HPO term]
- Optic atrophy [HPO term]
- Peripheral neuropathy, mild [HPO term]
- Poor speech [HPO term]
- Progressive spasticity [HPO term]
- Rigidity [HPO term]
- Rotary nystagmus [HPO term]
- Seizure [HPO term]
- Sensory axonal neuropathy [HPO term]
- Spastic paraparesis [HPO term]
ORDO concept(s)
- Pelizaeus-Merzbacher-like disease [ORDO Disease]
- Pelizaeus-Merzbacher-like disease due to GJC2 mutation [ORDO Disease]
See also inter- (CISMeF)
- Pelizaeus-Merzbacher disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pelizaeus Merzbacher like disease due to GJC2 mutation (disorder) [SNOMED CT concept]
- Pelizaeus-Merzbacher-like disease [ORDO Disease]
- Pelizaeus-Merzbacher-like disease due to GJC2 mutation [ORDO Disease]
- leukodystrophy, hypomyelinating, 2 [MeSH Supplementary Concept]
- leukodystrophy, hypomyelinating, 2 [MeSH concept]

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