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1 OMIM reference -
11 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
4 associated genes
9 signs/symptoms
Idiopathic pulmonary fibrosis
Pontocerebellar hypoplasia type 1

ATP11A EXOSC3
DPP9 RARS2
DSP TSEN54
FAM13A VRK1
MUC5B
OBFC1
SFTPA1
SFTPA2
SFTPC
TERC
TERT


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Idiopathic pulmonary fibrosis
ATP11A DPP9 DSP FAM13A MUC5B OBFC1
SFTPA1 SFTPA2 SFTPC TERC TERT
Pontocerebellar hypoplasia type 1
EXOSC3 RARS2 TSEN54 VRK1



Idiopathic pulmonary fibrosis
Pontocerebellar hypoplasia type 1

Synonym(s):
- UIP
- Usual interstitial pneumonia

Synonym(s):
- Norman disease
- PCH1

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

Classification (ICD10):
- Diseases of the respiratory system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
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:
1 OMIM reference -
1 MeSH reference: D054990
External references:
2 OMIM references -
1 MeSH reference: C548069

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



Idiopathic pulmonary fibrosis

(no data available)