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Dominant hypophosphatemia with nephrolithiasis or osteoporosis
2 OMIM references -
2 associated genes
90 connected diseases
No signs/symptoms info
Disease Type of connection
Primary Fanconi syndrome
Idiopathic hypereosinophilic syndrome
Cowden syndrome
Precursor B-cell acute lymphoblastic leukemia
Giant cell glioblastoma
Bilateral striopallidodentate calcinosis
Chronic myelomonocytic leukemia
Congenital bilateral absence of vas deferens
Cystic fibrosis
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Infantile myofibromatosis
Male infertility with normal virilization due to meiosis defect
Myeloid neoplasm associated with PDGFRB rearrangement
Unclassified chronic myeloproliferative disease
Bannayan-Riley-Ruvalcaba syndrome
Hereditary breast and ovarian cancer syndrome
Juvenile polyposis of infancy
Lhermitte-Duclos disease
Macrocephaly-autism syndrome
Proteus syndrome
Proteus-like syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Squamous cell carcinoma of head and neck
Early infantile epileptic encephalopathy
Malignant migrating partial seizures of infancy
Gastrointestinal stromal tumor
Myeloid neoplasm associated with PDGFRA rearrangement
Neurofibromatosis type 2
Neurofibromatosis type 3
Autosomal dominant nonsyndromic intellectual deficit
Desmoid tumor
Familial multiple nevi flammei
Hepatocellular carcinoma, childhood-onset
Sturge-Weber syndrome
Uveal coloboma - cleft lip and palate - intellectual deficit
Chondrodysplasia, Blomstrand type
Dental ankylosis
Eiken syndrome
Metaphyseal chondrodysplasia, Jansen type
CLOVE syndrome
Dubin-Johnson syndrome
Hereditary nonpolyposis colon cancer
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Familial isolated dilated cardiomyopathy
Autosomal dominant hypocalcemia
Familial hypocalciuric hypercalcemia type 2
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Acetazolamide-responsive myotonia
Autosomal agammaglobulinemia
Coffin-Lowry syndrome
Combined immunodeficiency due to STK4 deficiency
Dedifferentiated liposarcoma
Estrogen resistance syndrome
Familial exudative vitreoretinopathy
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Glycogen storage disease due to liver phosphorylase kinase deficiency
Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis
Intellectual deficit, X-linked, Snyder type
Lethal polymalformative syndrome, Boissel type
Myotonia fluctuans
Myotonia permanens
Paramyotonia congenita of Von Eulenburg
Persistent hyperplastic primary vitreous
Postsynaptic congenital myasthenic syndromes
Retinopathy of prematurity
Systemic primary carnitine deficiency
Well-differentiated liposarcoma
X-linked non-syndromic intellectual deficit
Autosomal recessive distal renal tubular acidosis with deafness
Bothnia retinal dystrophy
Congenital chloride diarrhea
Familial male-limited precocious puberty
Fundus albipunctatus
Leydig cell hypoplasia due to complete LH resistance
Leydig cell hypoplasia due to partial LH resistance
Retinitis pigmentosa
Retinitis punctata albescens
Cystic leukoencephalopathy without megalencephaly
(no synonyms)

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

Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
SLC34A1 Q06495182309
SLC9A3R1 O14745604990
No signs/symptoms info available.