Pelizaeus-merzbacher disease

Preferred Label : Pelizaeus-merzbacher disease;

Symbol : PMD;

CISMeF acronym : HLD1; PMD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Leukodystrophy, hypomyelinating, 1; HLD1;

Description : Pelizaeus-Merzbacher disease is an X-linked recessive hypomyelinative leukodystrophy (HLD1) in which myelin is not formed properly in the central nervous system. PMD is characterized clinically by nystagmus, spastic quadriplegia, ataxia, and developmental delay (Inoue, 2005). - Genetic Heterogeneity of Hypomyelinating Leukodystrophy Other forms of hypomyelinating leukodystrophy include HLD2 (608804), caused by mutation in the GJC2/GJA12 gene (608803) on chromosome 1q41; HLD3 (260600), caused by mutation in the AIMP1 gene (603605) on chromosome 4q24; HLD4 (612233), caused by mutation in the HSPD1 gene (118190) on chromosome 2q33.1; and HLD5 (610532), caused by mutation in the FAM126A gene (610531) on chromosome 7p15.3; HLD6 (612438), caused by mutation in the TUBB4A gene (602662) on chromosome 19p13; HLD7 (607694), caused by mutation in the POLR3A gene (614258) on chromosome 10q22; HLD8 (614381), caused by mutation in the POLR3B gene (614366) on chromosome 12q23; and Allan-Herndon-Dudley syndrome (AHDS; 300523), caused by mutation in the SLC16A2 gene (300095) on chromosome Xq13.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the proteolipid protein 1 gene (PLP1, 300401.0001);

Prefixed ID : #312080;

Details

Origin ID

312080;

UMLS CUI

C0205711;

Automatic exact mappings (from CISMeF team)
- Manic depressive illness [MedDRA LLT]
- PLP1 wt Allele [NCIt concept]
- proteolipid protein 1 [ORDO Gene]
- proteolipid protein 1 [HGNC gene]
Currated CISMeF NLP mapping
- Pelizaeus Merzbacher disease [Disease (Nov.)]
- Pelizaeus-Merzbacher Disease [NCIt concept]
- Pelizaeus-Merzbacher disease [DO Concept]
- Pelizaeus-Merzbacher disease [ICD-11 Subcategory]
- Pelizaeus-Merzbacher disease [PASCAL descriptor]
- Pelizaeus-Merzbacher disease [MedDRA Preferred Term]
- Pelizaeus-Merzbacher disease [MeSH concept]
- Pelizaeus-Merzbacher disease [ORDO Disease]
- Pelizaeus-Merzbacher disease (disorder) [SNOMED CT concept]
- Pelizaeus–Merzbacher disease [PASCAL descriptor]
- Sudanophilic leukodystrophy [HPO term]
- pelizaeus-merzbacher disease [MeSH Descriptor]
- pelizaeus-merzbacher disease [SNOMED Notion]
DO Cross reference
- Pelizaeus-Merzbacher disease [DO Concept]
False automatic mappings
- Progressive Metabolic Disease [NCIt concept]
Genes related to phenotype
- Proteolipid protein 1 [OMIM gene]
HPO term(s)
- Abnormal CNS myelination [HPO term]
- Abnormal myelination [HPO term]
- Abnormal pyramidal sign [HPO term]
- Apathy [HPO term]
- Ataxia [HPO term]
- Broad-based gait [HPO term]
- CNS hypomyelination [HPO term]
- Cerebellar vermis atrophy [HPO term]
- Cerebral dysmyelination [HPO term]
- Choreoathetosis [HPO term]
- Cognitive impairment [HPO term]
- Congenital laryngeal stridor [HPO term]
- Delayed speech and language development [HPO term]
- Depression [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Failure to thrive [HPO term]
- Generalized dystonia [HPO term]
- Global brain atrophy [HPO term]
- Global developmental delay [HPO term]
- Head titubation [HPO term]
- Hearing impairment [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intention tremor [HPO term]
- Mental deterioration [HPO term]
- Microcephaly [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Poor weight gain [HPO term]
- Progressive spastic quadriplegia [HPO term]
- Psychomotor deterioration [HPO term]
- Reduction of oligodendroglia [HPO term]
- Rotary nystagmus [HPO term]
- Scanning speech [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Slowly progressive [HPO term]
- Spastic paraplegia [HPO term]
- Sudanophilic leukodystrophy [HPO term]
- Thin corpus callosum [HPO term]
- Tremor [HPO term]
- Urinary urgency [HPO term]
- Vertical supranuclear gaze palsy [HPO term]
- Writer's cramp [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Null syndrome [ORDO Disease]
- Pelizaeus-Merzbacher disease [ORDO Disease]
- Pelizaeus-Merzbacher disease, connatal form [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pelizaeus Merzbacher disease [Disease (Nov.)]
- Pelizaeus-Merzbacher Disease [NCIt concept]
- Pelizaeus-Merzbacher disease [MedDRA Preferred Term]
- Pelizaeus-Merzbacher disease [ORDO Disease]
- Pelizaeus-Merzbacher disease [MeSH concept]
- Pelizaeus-Merzbacher disease [DO Concept]
- Pelizaeus-Merzbacher disease [PASCAL descriptor]
- Pelizaeus-Merzbacher disease (disorder) [SNOMED CT concept]
- Pelizaeus–Merzbacher disease [PASCAL descriptor]
- Sudanophilic leukodystrophy [HPO term]
- pelizaeus-merzbacher disease [SNOMED Notion]
- pelizaeus-merzbacher disease [MeSH Descriptor]
Validated automatic mappings to BTNT
- Null syndrome [ORDO Disease]
- Pelizaeus-Merzbacher disease, connatal form [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients