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MCID: HYP789
MIFTS: 49
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Hypophosphatemic Rickets with Hypercalciuria, Hereditary
Categories:
Genetic diseases, Nephrological diseases, Bone diseases, Endocrine diseases, Fetal diseases, Rare diseases
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MalaCards integrated aliases for Hypophosphatemic Rickets with Hypercalciuria, Hereditary:
Characteristics:Orphanet epidemiological data:59
hereditary hypophosphatemic rickets with hypercalciuria
Inheritance: Autosomal recessive; Age of onset: All ages; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy or early childhood heterozygotes have milder metabolic defect with increased serum 1,25(oh)2d3 and hypercalciuria, but no bone disease or rickets good response to phosphate treatment autosomal dominant inheritance has been reported codominant inheritance has been suggested HPO:32
hypophosphatemic rickets with hypercalciuria, hereditary:
Onset and clinical course infantile onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Nephrological diseases Bone diseases Endocrine diseases
ICD10:
34
Orphanet: 59
Rare renal diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
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OMIM
:
57
Hereditary hypophosphatemic rickets with hypercalciuria is a rare autosomal recessive disorder characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. HHRH is distinct from other forms of hypophosphatemic rickets in that affected individuals present with hypercalciuria due to increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption (summary by Bergwitz et al., 2006). (241530)
MalaCards based summary : Hypophosphatemic Rickets with Hypercalciuria, Hereditary, also known as hereditary hypophosphatemic rickets with hypercalciuria, is related to hereditary hypophosphatemic rickets and rickets, and has symptoms including muscle weakness, bone pain and difficulty standing. An important gene associated with Hypophosphatemic Rickets with Hypercalciuria, Hereditary is SLC34A3 (Solute Carrier Family 34 Member 3), and among its related pathways/superpathways are Negative regulation of FGFR3 signaling and Signaling by FGFR2. Affiliated tissues include bone and cortex, and related phenotypes are muscle weakness and short stature UniProtKB/Swiss-Prot : 75 Hereditary hypophosphatemic rickets with hypercalciuria: Autosomal recessive form of hypophosphatemia characterized by reduced renal phosphate reabsorption and rickets. Increased serum levels of 1,25-dihydroxyvitamin D lead to increase in urinary calcium excretion. Disease Ontology : 12 A rickets that has material basis in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:241530Human phenotypes related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary:59 32 (show all 38)
UMLS symptoms related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary:muscle weakness, bone pain, difficulty standing GenomeRNAi Phenotypes related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary according to GeneCards Suite gene sharing:26 (show all 13)
MGI Mouse Phenotypes related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary:46 (show all 11)
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MalaCards organs/tissues related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary:41
Bone,
Cortex
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Articles related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary:(show all 20)
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Genes related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary (1 elite genes):(show all 20)
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Hypophosphatemic Rickets with Hypercalciuria, Hereditary:75
ClinVar genetic disease variations for Hypophosphatemic Rickets with Hypercalciuria, Hereditary:6
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Search
GEO
for disease gene expression data for Hypophosphatemic Rickets with Hypercalciuria, Hereditary.
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Pathways related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary according to GeneCards Suite gene sharing:
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Cellular components related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary according to GeneCards Suite gene sharing:
Biological processes related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary according to GeneCards Suite gene sharing:(show all 27)
Molecular functions related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary according to GeneCards Suite gene sharing:
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