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1 OMIM reference -
11 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
3 associated genes
49 signs/symptoms
Idiopathic pulmonary fibrosis
Joubert syndrome with hepatic defect

ATP11A CC2D2A
DPP9 RPGRIP1L
DSP TMEM67
FAM13A
MUC5B
OBFC1
SFTPA1
SFTPA2
SFTPC
TERC
TERT


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SFTPC
(0.63)
TMEM67



Citations in the biomedical literature:


Idiopathic pulmonary fibrosis
ATP11A DPP9 DSP FAM13A MUC5B OBFC1
SFTPA1 SFTPA2 SFTPC TERC TERT
Joubert syndrome with hepatic defect
CC2D2A RPGRIP1L TMEM67



Idiopathic pulmonary fibrosis
Joubert syndrome with hepatic defect

Synonym(s):
- UIP
- Usual interstitial pneumonia

Synonym(s):
- COACH syndrome
- Cerebellar vermis hypoplasia - oligophrenia - congenital ataxia - coloboma - hepatic fibrosis
- Gentile syndrome
- JS-H
- Joubert syndrome with congenital hepatic fibrosis

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: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: D054990
External references:
1 OMIM reference -
No MeSH references

Joubert syndrome with hepatic defect

Very frequent
- Abnormal hepatic enzymes / transaminases
- Apnea / sleep apnea
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Congenital hepatic fibrosis
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrahepatic biliary tract atresia / obstruction
- Oculomotor apraxia / dyspraxia
- Respiratory rhythm disorder

Frequent
- Abnormal gait
- Coloboma of iris
- Coloboma of the optic nerve
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hypereflexia
- Long face
- Mild visual loss / impaired visual acuity
- Narrow forehead
- Nystagmus
- Renal disease / nephropathy
- Retinoschisis / retinal / chorioretinal coloboma

Occasional
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Anteverted nares / nostrils
- Chronic hepatic failure
- Cirrhosis
- Cleft lip and palate
- Corpus callosum / septum pellucidum total / partial agenesis
- Encephalocele / exencephaly
- Hepatic / liver neoplasm / tumor / carcinoma / cancer
- High arched eyebrows
- High nasal bridge
- Hydrocephaly
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Inguinal / inguinoscrotal / crural hernia
- Low set ears / posteriorly rotated ears
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Multicystic kidney / renal dysplasia
- Oral synechiae / abnormal frenulae
- Portal hypertension
- Postaxial polydactyly (hand)
- Ptosis
- Renal failure
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Splenomegaly
- Strabismus / squint
- Tremor


Idiopathic pulmonary fibrosis

(no data available)