ODCs

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Ehlers-Danlos syndrome with periventricular heterotopia

1 OMIM reference -
1 associated gene
17 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Joubert syndrome with renal defect

3 OMIM references -
5 associated genes
34 signs/symptoms

Ehlers-Danlos syndrome with periventricular heterotopia

Joubert syndrome with renal defect

FLNA	(UniProt - OMIM)	ATXN10	(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)	FLNA	(0.87)	NPHP1

Citations in the biomedical literature:

Ehlers-Danlos syndrome with periventricular heterotopia		Joubert syndrome with renal defect
	Synonym(s): - EDS with periventricular heterotopia		Synonym(s): - JS-R

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare surgical thoracic disease - Rare systemic or rheumatologic 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): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: no data available Type of inheritance: x-linked 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: 3 OMIM references - No MeSH references


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus

Ehlers-Danlos syndrome with periventricular heterotopia		Joubert syndrome with renal defect
	Very frequent - Gastric / pyloric stenosis - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Herniae - X-linked dominant inheritance Frequent - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Cardiac valvulopathy - Hyperextensible joints / articular hyperlaxity - Patent ductus arteriosus - Structural anomalies of the nervous system - Thin skin Occasional - Aortic root dilatation / dilation / aneurysm - Patella dislocation - Shoulder dislocation		Very frequent - Apnea / sleep apnea - Ataxia / incoordination / trouble of the equilibrium - Autosomal recessive inheritance - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Hypotonia - 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 - Strabismus / squint - Tremor - Upper limb polydactyly / hexadactyly