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1 OMIM reference -
11 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
9 OMIM references -
10 associated genes
35 signs/symptoms
Idiopathic pulmonary fibrosis
Joubert syndrome

ATP11A ARL13B
DPP9 C5ORF42
DSP CEP41
FAM13A CSPP1
MUC5B INPP5E
OBFC1 KIF7
SFTPA1 TCTN1
SFTPA2 TMEM231
SFTPC TMEM237
TERC TMEM67
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
ARL13B C5ORF42 CEP41 CSPP1 INPP5E KIF7
TCTN1 TMEM231 TMEM237 TMEM67



Idiopathic pulmonary fibrosis
Joubert syndrome

Synonym(s):
- UIP
- Usual interstitial pneumonia

Synonym(s):
- CPD IV
- Cerebelloparenchymal disorder IV
- Classic Joubert syndrome
- Joubert syndrome type A
- Joubert-Boltshauser syndrome
- Pure Joubert syndrome

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: 1-9 / 100 000
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:
9 OMIM references -
No MeSH references

Joubert syndrome

Very frequent
- Apnea / sleep apnea
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Oculomotor apraxia / dyspraxia
- Respiratory rhythm disorder

Frequent
- Abnormal gait
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Long face
- Narrow forehead
- Nystagmus

Occasional
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Anomalies of spine, vertebrae and pelvis
- Anteverted nares / nostrils
- Cleft lip and palate
- Coloboma of iris
- Congenital cardiac anomaly / malformation / cardiopathy
- Corpus callosum / septum pellucidum total / partial agenesis
- Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Encephalocele / exencephaly
- High arched eyebrows
- High nasal bridge
- Hydrocephaly
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Low set ears / posteriorly rotated ears
- Polydactyly of toes
- Ptosis
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint
- Tremor
- Upper limb polydactyly / hexadactyly


Idiopathic pulmonary fibrosis

(no data available)