Leukodystrophy, hypomyelinating, 4

Preferred Label : Leukodystrophy, hypomyelinating, 4;

Symbol : HLD4;

CISMeF acronym : HLD4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mitchap60 disease; Mitochondrial hsp60 chaperonopathy;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the heat-shock 60-Kd protein 1 gene (HSPD1, 118190.0002);

Laboratory abnormalities : Intermittent increase of urinary ethylmalonic acid; Serum lactate may be increased during encephalopathic exacerbations;

Prefixed ID : #612233;

Détails

Origin ID

612233;

UMLS CUI

C2677109;

Automatic exact mappings (from CISMeF team)
- HSPD1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Pelizaeus Merzbacher like disease due to HSPD1 mutation (disorder) [SNOMED CT concept]
- Pelizaeus-Merzbacher-like disease due to HSPD1 mutation [ORDO Disease]
- hypomyelinating leukodystrophy 4 [DO Concept]
- leukodystrophy, hypomyelinating, 4 [MeSH concept]
- leukodystrophy, hypomyelinating, 4 [MeSH Supplementary Concept]
DO Cross reference
- hypomyelinating leukodystrophy 4 [DO Concept]
Genes related to phenotype
- Heat-shock 60-kd protein 1 [OMIM gene]
HPO term(s)
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Choreoathetosis [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, profound [HPO term]
- Leukodystrophy [HPO term]
- Microcephaly, acquired [HPO term]
- Neonatal onset [HPO term]
- Nystagmus [HPO term]
- Progressive spasticity [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Pelizaeus-Merzbacher-like disease [ORDO Disease]
- Pelizaeus-Merzbacher-like disease due to HSPD1 mutation [ORDO Disease]
See also inter- (CISMeF)
- Pelizaeus-Merzbacher-like disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pelizaeus Merzbacher like disease due to HSPD1 mutation (disorder) [SNOMED CT concept]
- Pelizaeus-Merzbacher-like disease due to HSPD1 mutation [ORDO Disease]
- hypomyelinating leukodystrophy 4 [DO Concept]
- leukodystrophy, hypomyelinating, 4 [MeSH Supplementary Concept]
- leukodystrophy, hypomyelinating, 4 [MeSH concept]

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