ODCs

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Joubert syndrome with renal defect

3 OMIM references -
5 associated genes
34 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

NPHP3-related Meckel-like syndrome

1 OMIM reference -
1 associated gene
9 signs/symptoms

Joubert syndrome with renal defect

NPHP3-related Meckel-like syndrome

ATXN10	(UniProt - OMIM)	NPHP3	(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	(0.84)	NPHP3

Citations in the biomedical literature:

Joubert syndrome with renal defect		NPHP3-related Meckel-like syndrome
	Synonym(s): - JS-R		Synonym(s): - Goldston syndrome - Meckel syndrome type 7 - Meckel-like syndrome type 1 - Renal-hepatic-pancreatic dysplasia - Dandy-Walker cysts

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	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: <1 / 1 000 000 Average age onset: childhood Average age of death: no data available Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Autosomal recessive inheritance

Joubert syndrome with renal defect		NPHP3-related Meckel-like syndrome
	Very frequent - Apnea / sleep apnea - Ataxia / incoordination / trouble of the equilibrium - 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 - Dandy-Walker anomaly - Multicystic kidney / renal dysplasia Frequent - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Intestinal / gut / bowel malrotation - Oligoamnios - Polyhydramnios - Structural anomalies of the liver and the biliary tract - Structural anomalies of the pancreas