Leukodystrophy, hypomyelinating, 3

Preferred Label : Leukodystrophy, hypomyelinating, 3;

Symbol : HLD3;

CISMeF acronym : HLD3;

Type : Phenotype, molecular basis known;

Description : Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system (summary by Feinstein et al., 2010). The disorder is phenotypically similar to X-linked Pelizaeus-Merzbacher disease (PMD; 312080), which is caused by mutation in the PLP1 gene (300401). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the aminoacyl-tRNA synthetase complex-interacting multifunctional protein 1 gene (AIMP1, 603605.0001);

Prefixed ID : #260600;

Details

Origin ID

260600;

UMLS CUI

C1850053;

Currated CISMeF NLP mapping
- Pelizaeus-Merzbacher-like disease due to AIMP1 mutation [ORDO Disease]
- Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 [MeSH concept]
- Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 [MeSH Supplementary Concept]
- hypomyelinating leukodystrophy 3 [DO Concept]
DO Cross reference
- hypomyelinating leukodystrophy 3 [DO Concept]
Genes related to phenotype
- Aminoacyl-trna synthetase complex-interacting multifunctional protein 1 [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Coarse facial features [HPO term]
- Corpus callosum atrophy [HPO term]
- Death in infancy [HPO term]
- Diffuse cerebral sclerosis [HPO term]
- EEG abnormality [HPO term]
- Failure to thrive [HPO term]
- Global brain atrophy [HPO term]
- Global developmental delay [HPO term]
- Kyphoscoliosis [HPO term]
- Leukodystrophy [HPO term]
- Microcephaly [HPO term]
- Nystagmus [HPO term]
- Premature birth [HPO term]
- Progressive [HPO term]
- Progressive flexion contractures [HPO term]
- Projectile vomiting [HPO term]
- Seizure [HPO term]
- Severe global developmental delay [HPO term]
- Spastic paraparesis [HPO term]
- Sudanophilic leukodystrophy [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Pelizaeus-Merzbacher-like disease [ORDO Disease]
- Pelizaeus-Merzbacher-like disease due to AIMP1 mutation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pelizaeus-Merzbacher-like disease due to AIMP1 mutation [ORDO Disease]
- Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 [MeSH Supplementary Concept]
- Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 [MeSH concept]
- hypomyelinating leukodystrophy 3 [DO Concept]

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