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Joubert syndrome with renal defect

3 OMIM references -
5 associated genes
34 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Osteodysplasty, Melnick-Needles type

1 OMIM reference -
1 associated gene
38 signs/symptoms

Joubert syndrome with renal defect

Osteodysplasty, Melnick-Needles type

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		Osteodysplasty, Melnick-Needles type
	Synonym(s): - JS-R		Synonym(s): - Melnick-Needles syndrome

	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 eye disease - Rare genetic disease - Rare neurologic 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: <1 / 1 000 000 Average age onset: childhood 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


COMMON SIGNS	- Scoliosis

Joubert syndrome with renal defect		Osteodysplasty, Melnick-Needles type
	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 - Seizures / epilepsy / absences / spasms / status epilepticus - Strabismus / squint - Tremor - Upper limb polydactyly / hexadactyly		Very frequent - Bowed diaphysis / diaphyses / long bones - Cortical anomaly / thick bone cortical layer - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Hypertelorism - Hypoplastic mandibula / partial absence of the mandibula - Large fontanelle / delayed fontanelle closure - Long foot / arachnodactyly of toes - Long hand / arachnodactyly - Metaphyseal anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow rib cage / thorax - Prominent supraorbital ridge - Proptosis / exophthalmos - Short rib cage / thorax - Short stature / dwarfism / nanism - X-linked dominant inheritance Frequent - Abnormal vertebral size / shape - Anodontia / oligodontia / hypodontia - Broad cheeks / cherub-like / cherubin face - Cardiac septal defect - Clavicle absent / abnormal - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Frontal bossing / prominent forehead - Hearing loss / hypoacusia / deafness - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hyperextensible joints / articular hyperlaxity - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Metacarpal anomalies / Archibald's sign - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Repeat respiratory infections - Rib structure anomalies - Terminal / third phalangeal bone of fingers hypoplasia - Vesicorenal / vesicoureteral reflux Occasional - Omphalocele / exomphalos - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Stillbirth / neonatal death