Cytoscape Web
Click node...


1 OMIM reference -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
7 OMIM references -
6 associated genes
33 signs/symptoms
Generalized juvenile polyposis/juvenile polyposis coli
Joubert syndrome with oculorenal defect

BMPR1A CC2D2A
ENG CEP290
SMAD4 TMEM138
TMEM216
TMEM237
ZNF423


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SMAD4
(0.84)
ZNF423



Citations in the biomedical literature:


Generalized juvenile polyposis/juvenile polyposis coli
BMPR1A ENG SMAD4
Joubert syndrome with oculorenal defect
CC2D2A CEP290 TMEM138 TMEM216 TMEM237 ZNF423



Generalized juvenile polyposis/juvenile polyposis coli
Joubert syndrome with oculorenal defect

Synonym(s):
(no synonyms)

Synonym(s):
- Arima syndrome
- CORS
- Cerebello-oculo-renal syndrome
- Dekaban-Arima syndrome
- JS type B
- JS-OR
- Joubert syndrome with Senior-Loken syndrome

Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare renal disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

Joubert syndrome with oculorenal defect

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
- Renal disease / nephropathy
- Respiratory rhythm disorder
- Retinal / chorioretinal dysplasia / dystrophy

Frequent
- Coloboma of iris
- Long face
- Low set ears / posteriorly rotated ears
- Narrow forehead
- Nystagmus
- Ptosis
- Retinoschisis / retinal / chorioretinal coloboma
- Visual loss / blindness / amblyopia

Occasional
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Anteverted nares / nostrils
- Congenital cardiac anomaly / malformation / cardiopathy
- Corpus callosum / septum pellucidum total / partial agenesis
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Encephalocele / exencephaly
- High arched eyebrows
- High nasal bridge
- Hydrocephaly
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Polydactyly of toes
- Renal failure
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint
- Upper limb polydactyly / hexadactyly


Generalized juvenile polyposis/juvenile polyposis coli

(no data available)