ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
25 signs/symptoms

Dominant hypophosphatemia with nephrolithiasis or osteoporosis

Neurofibromatosis type 2

SLC34A1	(UniProt - OMIM)		NF2	(UniProt - OMIM)
SLC9A3R1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SLC9A3R1	(0.88)	NF2

Citations in the biomedical literature:

Dominant hypophosphatemia with nephrolithiasis or osteoporosis		Neurofibromatosis type 2
	Synonym(s): (no synonyms)		Synonym(s): - Familial acoustic neurinoma - Familial acoustic neuroma - Familial vestibular schwannoma - NF2

	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 neurologic disease - Rare oncologic disease - Rare otorhinolaryngologic 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: variable Average age of death: - Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 2 MeSH references: D009464 / D016518

Neurofibromatosis type 2
	Very frequent - Ataxia / incoordination / trouble of the equilibrium - Autosomal dominant inheritance - Dizziness - Sensorineural deafness / hearing loss - Tinnitus Frequent - Cataract / lens opacification - Facial pain / cephalalgia / migraine - Skin tumors / lumps / epidermal cysts Occasional - Abnormal gait - Alexia / agraphia / writing / reading troubles - Benign tumor of the brain / nervous system - Cafe-au-lait spot - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Corneal clouding / opacity / vascularisation - Cranial hypertension - Cranial nerves palsy - Cutaneous neurofibromas / facial angiofibromas / Koenen tumors - Facial palsy - Follicular / erythematous / edematous papules / milium - Glial tumor / glioblastoma - Meningioma - Mild visual loss / impaired visual acuity - Retinal vascular anomalies / retinal telangiectasia - Sensitive trouble / deficit - Subcutaneous nodules / lipomas / tumefaction / swelling
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
(no data available)