ODCs

Cytoscape Web

Click node...

Pontocerebellar hypoplasia type 1

2 OMIM references -
4 associated genes
9 signs/symptoms

PROTEIN INTERACTIONS: 2

Hemoglobin H disease

1 OMIM reference -
2 associated genes
No signs/symptoms info

Pontocerebellar hypoplasia type 1

Hemoglobin H disease

EXOSC3	(UniProt - OMIM)		HBA1	(UniProt - OMIM)
RARS2	(UniProt - OMIM)		HBA2	(UniProt - OMIM)
TSEN54	(UniProt - OMIM)
VRK1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	VRK1 VRK1	(0.63) (0.63)	HBA1 HBA2

Citations in the biomedical literature:

Pontocerebellar hypoplasia type 1		Hemoglobin H disease
	Synonym(s): - Norman disease - PCH1		Synonym(s): - Alpha-thalassemia intermedia - HbH disease

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	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: 1-9 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive

	External references: 2 OMIM references - 1 MeSH reference: C548069		External references: 1 OMIM reference - 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
Hemoglobin H disease
(no data available)