ODCs

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2 OMIM references -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
22 signs/symptoms

Dominant hypophosphatemia with nephrolithiasis or osteoporosis

Proteus-like syndrome

SLC34A1	(UniProt - OMIM)		PTEN	(UniProt - OMIM)
SLC9A3R1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SLC9A3R1	(0.96)	PTEN

Citations in the biomedical literature:

Dominant hypophosphatemia with nephrolithiasis or osteoporosis		Proteus-like syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Cohen-Hayden syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease - Rare skin disease

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Proteus-like syndrome
	Very frequent - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Conjunctival tumor / epibulbar dermoid - Dental malocclusion - Exostoses - Genu recurvatum - Intellectual deficit / mental / psychomotor retardation / learning disability - Irregular / in bands / reticular skin hyperpigmentation - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Myopia - Pigmented naevi / naevus pigmentosus / lentigo - Pupillary anomalies / mydriasis / myosis / tonic pupil - Xanthomas / lipomas Frequent - Cataract / lens opacification - Communicating hydrocephaly - Heterochromia / mixed colouring of iris - Macrocephaly / macrocrania / megalocephaly / megacephaly - Parathyroids anomalies - Prognathism / prognathia - Retinal detachment - Shagreen patch - Varices / varicous veins / venous insufficiency
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
(no data available)