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Phakomatosis pigmentokeratotica

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Joubert syndrome with orofaciodigital defect

4 OMIM references -
5 associated genes
36 signs/symptoms

Phakomatosis pigmentokeratotica

Joubert syndrome with orofaciodigital defect

HRAS	(UniProt - OMIM)		KIF7	(UniProt - OMIM)
			OFD1	(UniProt - OMIM)
			PDE6D	(UniProt - OMIM)
			TCTN3	(UniProt - OMIM)
			TMEM216	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HRAS	(0.75)	PDE6D

Citations in the biomedical literature:

Phakomatosis pigmentokeratotica		Joubert syndrome with orofaciodigital defect
	Synonym(s): (no synonyms)		Synonym(s): - Joubert syndrome with oral-facial-digital syndrome - OFD6 - Oral-facial-digital syndrome type 6 - Orofaciodigital syndrome type 6 - Polydactyly - cleft lip/palate - psychomotor retardation - VÃ¡radi syndrome - VÃ¡radi-Papp syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease - Rare skin 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: unknown		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: No OMIM references 1 MeSH reference: C537893		External references: 4 OMIM references - No MeSH references

Joubert syndrome with orofaciodigital defect
	Very frequent - Apnea / sleep apnea - Ataxia / incoordination / trouble of the equilibrium - Autosomal recessive inheritance - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Cleft / notched / bifid tongue - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Metacarpal anomalies / Archibald's sign - Oculomotor apraxia / dyspraxia - Oral synechiae / abnormal frenulae - Polydactyly of toes - Respiratory rhythm disorder - Upper limb polydactyly / hexadactyly Frequent - Abnormal gait - Cleft lip - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Failure to thrive / difficulties for feeding in infancy / growth delay - Hamartoma / tumefaction of the tongue / gingivae / oral mucosa - Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies - Long face - Narrow forehead - Nystagmus - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Anteverted nares / nostrils - Coloboma of iris - Congenital cardiac anomaly / malformation / cardiopathy - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Encephalocele / exencephaly - High arched eyebrows - High nasal bridge - Inguinal / inguinoscrotal / crural hernia - Low set ears / posteriorly rotated ears - Ptosis - Seizures / epilepsy / absences / spasms / status epilepticus - Strabismus / squint - Tremor
Phakomatosis pigmentokeratotica
(no data available)