ODCs

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Dominant hypophosphatemia with nephrolithiasis or osteoporosis

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

PROTEIN INTERACTIONS: 1

Sturge-Weber syndrome

1 OMIM reference -
1 associated gene
33 signs/symptoms

Dominant hypophosphatemia with nephrolithiasis or osteoporosis

Sturge-Weber syndrome

SLC34A1	(UniProt - OMIM)		GNAQ	(UniProt - OMIM)
SLC9A3R1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SLC9A3R1	(0.79)	GNAQ

Citations in the biomedical literature:

Dominant hypophosphatemia with nephrolithiasis or osteoporosis		Sturge-Weber syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Encephalofacial angiomatosis - Encephalotrigeminal angiomatosis - SWS - Sturge-Weber-Dimitri syndrome - Sturge-Weber-Krabbe angiomatosis - Sturge-Weber-Krabbe syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic 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: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: sporadic

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D013341

Sturge-Weber syndrome
	Very frequent - Autism / autistic disoders - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Glaucoma - Hemiplegia / diplegia / hemiparesia / limb palsy - Intracranial / cerebral calcifications - Macrocephaly / macrocrania / megalocephaly / megacephaly - Macules - Ptosis - Retinal vascular anomalies / retinal telangiectasia - Strabismus / squint - Vascular anomalies of skin / mucosae Occasional - Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim - Anomalies of eyes and vision - Areflexia / hyporeflexia - Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Bone tumefaction / swelling - Cavernous / tuberous hemangioma - Cerebral vascular anomalies - Choroidal anomalies / atrophy / choroideremia - Coloboma of iris - Facial pain / cephalalgia / migraine - Hematomas - Hypereflexia - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Intellectual deficit / mental / psychomotor retardation / learning disability - Macroglossia / tongue protrusion / proeminent / hypertrophic - Pulmonary thromboembolism - Retinal detachment - Venous thrombosis / phlebitis / thrombophlebitis - Visceral angiomatosis (excluding skin)
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
(no data available)