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Pelizaeus-Merzbacher disease, connatal form

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Huntington disease

1 OMIM reference -
1 associated gene
8 signs/symptoms

Pelizaeus-Merzbacher disease, connatal form

Huntington disease

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PLP1	(0.68)	HTT

Citations in the biomedical literature:

Pelizaeus-Merzbacher disease, connatal form		Huntington disease
	Synonym(s): - Connatal PMD - Pelizaeus-Merzbacher disease type II - Severe PMD		Synonym(s): - Huntington chorea

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: x-linked recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: variable Average age of death: any age Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D006816

Huntington disease
	Frequent - Abnormal cry / voice / phonation disorder / nasal speech - Autosomal dominant inheritance - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - EEG anomalies - Hypertonia / spasticity / rigidity / stiffness - Movement disorder - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline
Pelizaeus-Merzbacher disease, connatal form
(no data available)