ODCs

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Pontocerebellar hypoplasia type 1

2 OMIM references -
4 associated genes
9 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 1

Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16

1 OMIM reference -
2 associated genes
33 signs/symptoms

Pontocerebellar hypoplasia type 1

Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16

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		Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
	Synonym(s): - Norman disease - PCH1		Synonym(s): - ATR syndrome linked to chromosome 16 - ATR syndrome, deletion type - ATR-16 syndrome - Alpha thalassemia - intellectual deficit syndrome, deletion type - Alpha thalassemia - retardation syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare hematologic disease - Rare neurologic 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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic

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


COMMON SIGNS	- Microcephaly

Pontocerebellar hypoplasia type 1		Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
	Very frequent - Autosomal recessive inheritance - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Hypertonia / spasticity / rigidity / stiffness - 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		Very frequent - Asthenia / fatigue / weakness - Hemoglobinosis / hemoglobinopathy - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcytic anemia - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Broad forehead - Broad nasal root - Bruisability - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Epicanthic folds - Failure to thrive / difficulties for feeding in infancy / growth delay - High forehead - High vaulted / narrow palate - Hypertelorism - Hypotonia - Low set ears / posteriorly rotated ears - Micrognathia / retrognathia / micrognathism / retrognathism - Mid-facial hypoplasia / short / small midface - Pectus carinatum - Short foot / brachydactyly of toes - Short neck - Short stature / dwarfism / nanism - Small / hypoplastic / adherent / absent ear lobe - Talipes-varus / metatarsal varus - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Absent / decreased / thin eyebrows - Autosomal dominant inheritance - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Flat supraorbital ridge - Frontal bossing / prominent forehead - Hypospadias / epispadias / bent penis