ODCs

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Joubert syndrome with renal defect

3 OMIM references -
5 associated genes
34 signs/symptoms

PROTEIN INTERACTIONS: 1

Otopalatodigital syndrome type 1

1 OMIM reference -
1 associated gene
24 signs/symptoms

Joubert syndrome with renal defect

Otopalatodigital syndrome type 1

ATXN10	(UniProt - OMIM)	FLNA	(UniProt - OMIM)
NPHP1	(UniProt - OMIM)
RPGRIP1L	(UniProt - OMIM)
TCTN2	(UniProt - OMIM)
TMEM237	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	NPHP1	(0.87)	FLNA

Citations in the biomedical literature:

Joubert syndrome with renal defect		Otopalatodigital syndrome type 1
	Synonym(s): - JS-R		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare renal disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic disease

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

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

	External references: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Joubert syndrome with renal defect		Otopalatodigital syndrome type 1
	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 - Renal disease / nephropathy - Respiratory rhythm disorder Frequent - Abnormal gait - Failure to thrive / difficulties for feeding in infancy / growth delay - Long face - Low set ears / posteriorly rotated ears - Narrow forehead - Nystagmus Occasional - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Anteverted nares / nostrils - Cleft lip and palate - Coloboma of iris - 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 - Ptosis - Renal failure - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Strabismus / squint - Tremor - Upper limb polydactyly / hexadactyly		Very frequent - Anodontia / oligodontia / hypodontia - Broad nose / nasal bridge - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hearing loss / hypoacusia / deafness - Hypertelorism - Prominent supraorbital ridge - Restricted joint mobility / joint stiffness / ankylosis - Short big toe - Wide space between 1st-2nd toes - X-linked recessive inheritance Frequent - Bowed diaphysis / diaphyses / long bones - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Elbow dislocation - Frontal sinus agenesis / anomaly - Metacarpal anomalies / Archibald's sign - Osteosclerosis / osteopetrosis / bone condensation - Proximally set thumb - Short hand / brachydactyly - Terminal / third phalangeal bone of fingers hypoplasia - Thumb hypoplasia / aplasia / absence Occasional - Anomalies of spine, vertebrae and pelvis - Carpal bones fusion / synostosis - Tarsal anomaly / fusion / synostosis