HHRH
MCID: HYP789
MIFTS: 49
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Hypophosphatemic Rickets with Hypercalciuria, Hereditary (HHRH)
Categories:
Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Hypophosphatemic Rickets with Hypercalciuria, Hereditary:
Name: Hypophosphatemic Rickets with Hypercalciuria, Hereditary
57
71
Characteristics:Orphanet epidemiological data:58
hereditary hypophosphatemic rickets with hypercalciuria
Inheritance: Autosomal recessive; Age of onset: All ages; OMIM®:57 (Updated 05-Mar-2021)
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:31
hypophosphatemic rickets with hypercalciuria, hereditary:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Nephrological diseases Bone diseases Endocrine diseases
ICD10:
33
Orphanet: 58
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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) (Updated 05-Mar-2021)
MalaCards based summary : Hypophosphatemic Rickets with Hypercalciuria, Hereditary, also known as hereditary hypophosphatemic rickets with hypercalciuria, is related to hereditary hypophosphatemic rickets and bone disease, 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 Signaling by FGFR2 and Parathyroid hormone synthesis, secretion and action. Affiliated tissues include bone, cortex and kidney, and related phenotypes are hypercalciuria and increased circulating osteocalcin level 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. UniProtKB/Swiss-Prot : 73 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. |
Human phenotypes related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary:58 31 (show all 50)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:241530 (Updated 05-Mar-2021)UMLS symptoms related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary:muscle weakness, bone pain, difficulty standing MGI Mouse Phenotypes related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary:46
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MalaCards organs/tissues related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary:40
Bone,
Cortex,
Kidney
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Articles related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary:(show top 50) (show all 59)
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ClinVar genetic disease variations for Hypophosphatemic Rickets with Hypercalciuria, Hereditary:6 (show all 36)
UniProtKB/Swiss-Prot genetic disease variations for Hypophosphatemic Rickets with Hypercalciuria, Hereditary:73
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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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