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Pontocerebellar hypoplasia type 1

2 OMIM references -
4 associated genes
9 signs/symptoms

PROTEIN INTERACTIONS: 1

Alexander disease type I

1 associated gene
No signs/symptoms info

Pontocerebellar hypoplasia type 1

Alexander disease type I

EXOSC3	(UniProt - OMIM)		GFAP	(UniProt - OMIM)
RARS2	(UniProt - OMIM)
TSEN54	(UniProt - OMIM)
VRK1	(UniProt - OMIM)


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

Citations in the biomedical literature:

Pontocerebellar hypoplasia type 1		Alexander disease type I
	Synonym(s): - Norman disease - PCH1		Synonym(s): - AxD type I

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

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

	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		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic

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

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
Alexander disease type I
(no data available)