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Pontocerebellar hypoplasia type 1
2 OMIM references -
4 associated genes
50 connected diseases
9 signs/symptoms
Disease Type of connection
Pontocerebellar hypoplasia type 2
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
Pontocerebellar hypoplasia type 6
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Blackfan-Diamond anemia
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Hyper-IgM syndrome type 2
Alexander disease type I
Alexander disease type II
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Amyotrophic lateral sclerosis
Autosomal dominant methemoglobinemia
Autosomal dominant spastic paraplegia type 13
Extraskeletal myxoid chondrosarcoma
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial prostate cancer
Hb Bart's hydrops fetalis
Hemoglobin H disease
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary motor and sensory neuropathy, Okinawa type
Hereditary site-specific ovarian cancer syndrome
Idiopathic pulmonary fibrosis
Keratosis palmoplantaris striata
Lethal acantholytic epidermolysis bullosa
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Papillary or follicular thyroid carcinoma
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Primary peritoneal carcinoma
Pulverulent cataract
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Spastic paraplegia-optic atrophy-neuropathy syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- Norman disease
- PCH1
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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:
2 OMIM references -
1 MeSH reference: C548069
Gene symbol UniProt reference OMIM reference
EXOSC3 Q9NQT5606489
RARS2 Q5T160611524
TSEN54 Q7Z6J9608755
VRK1 Q99986602168
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