ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

2 OMIM references -
4 associated genes
9 signs/symptoms

Pelizaeus-Merzbacher-like due to HSPD1 mutation

Pontocerebellar hypoplasia type 1


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HSPD1	(0.63)	VRK1

Citations in the biomedical literature:

Pelizaeus-Merzbacher-like due to HSPD1 mutation		Pontocerebellar hypoplasia type 1
	Synonym(s): - Mitochondrial HSP60 chaperonopathy		Synonym(s): - Norman disease - PCH1

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: C548069

Pontocerebellar hypoplasia type 1
	Very frequent - Autosomal recessive inheritance - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Hypertonia / spasticity / rigidity / stiffness - Microcephaly - Restricted joint mobility / joint stiffness / ankylosis - Seizures / epilepsy / absences / spasms / status epilepticus - Stillbirth / neonatal death Frequent - Clinodactyly of fingers 1,2,3,4 / overlapping fingers
Pelizaeus-Merzbacher-like due to HSPD1 mutation
(no data available)