Cytoscape Web
Click node...


2 OMIM references -
4 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
2 associated genes
10 signs/symptoms
Pontocerebellar hypoplasia type 1
Lethal acantholytic epidermolysis bullosa

EXOSC3 DSP
RARS2 JUP
TSEN54
VRK1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VRK1
(0.63)
DSP



Citations in the biomedical literature:


Pontocerebellar hypoplasia type 1
EXOSC3 RARS2 TSEN54 VRK1
Lethal acantholytic epidermolysis bullosa
DSP JUP



Pontocerebellar hypoplasia type 1
Lethal acantholytic epidermolysis bullosa

Synonym(s):
- Norman disease
- PCH1

Synonym(s):
- LAEB

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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
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
External references:
1 OMIM reference -
1 MeSH reference: C535493


COMMON
SIGNS
- Autosomal recessive inheritance


Pontocerebellar hypoplasia type 1
Lethal acantholytic epidermolysis bullosa

Very frequent
- 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



Very frequent
- Absent / small fingernails / anonychia of hands
- Alopecia
- Chronic skin infection / ulcerations / ulcers / cancrum
- Early death / lethality
- Enanthema / aphtosa / aphta / leukoplakia
- Premature eruption of teeth / natal teeth
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Occasional
- Cardiomyopathy / hypertrophic / dilated
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis