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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
6 associated genes
38 signs/symptoms
Fatal familial insomnia
Joubert syndrome with ocular defect

PRNP AHI1
CEP41
INPP5E
KIF7
TMEM231
TMEM237


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PRNP
(0.68)
TMEM237



Citations in the biomedical literature:


Fatal familial insomnia
PRNP
Joubert syndrome with ocular defect
AHI1 CEP41 INPP5E KIF7 TMEM231 TMEM237



Fatal familial insomnia
Joubert syndrome with ocular defect

Synonym(s):
(no synonyms)

Synonym(s):
- JS-O
- Joubert syndrome with retinopathy

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

Classification (ICD10):
- Certain infectious and parasitic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
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 -
1 MeSH reference: D034062
External references:
4 OMIM references -
No MeSH references

Joubert syndrome with ocular 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
- Oculomotor apraxia / dyspraxia
- Respiratory rhythm disorder
- Retinal / chorioretinal dysplasia / dystrophy

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
- Retinoschisis / retinal / chorioretinal coloboma
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint
- Tremor
- Upper limb polydactyly / hexadactyly
- Visual loss / blindness / amblyopia


Fatal familial insomnia

(no data available)