MCID: HYP312
MIFTS: 12

Hypophosphatemic Rickets and Hyperparathyroidism malady

Summaries for Hypophosphatemic Rickets and Hyperparathyroidism

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MalaCards based summary: Hypophosphatemic Rickets and Hyperparathyroidism is related to hyperparathyroidism and rickets, and has symptoms including autosomal dominant inheritance, renal phosphate wasting and macrocephaly. An important gene associated with Hypophosphatemic Rickets and Hyperparathyroidism is HPRHP (Hypophosphatemic rickets and hyperparathyroidism).

Aliases & Classifications for Hypophosphatemic Rickets and Hyperparathyroidism

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Hypophosphatemic Rickets and Hyperparathyroidism, Aliases & Descriptions:

Name: Hypophosphatemic Rickets and Hyperparathyroidism 46


Related Diseases for Hypophosphatemic Rickets and Hyperparathyroidism

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Diseases related to Hypophosphatemic Rickets and Hyperparathyroidism via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hyperparathyroidism30.9KL
2rickets10.4

Symptoms for Hypophosphatemic Rickets and Hyperparathyroidism

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HPO human phenotypes related to Hypophosphatemic Rickets and Hyperparathyroidism:

(show all 13)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 renal phosphate wasting HP:0000117
3 macrocephaly HP:0000256
4 rachitic rosary HP:0000897
5 frontal bossing HP:0002007
6 hypophosphatemia HP:0002148
7 bone pain HP:0002653
8 rickets HP:0002748
9 hypercalcemia HP:0003072
10 elevated circulating parathyroid hormone (pth) level HP:0003165
11 short stature HP:0004322
12 arnold-chiari type i malformation HP:0007099
13 parathyroid hyperplasia HP:0008208

Drugs & Therapeutics for Hypophosphatemic Rickets and Hyperparathyroidism

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Drug clinical trials:

Search ClinicalTrials for Hypophosphatemic Rickets and Hyperparathyroidism

Search NIH Clinical Center for Hypophosphatemic Rickets and Hyperparathyroidism

Genetic Tests for Hypophosphatemic Rickets and Hyperparathyroidism

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Anatomical Context for Hypophosphatemic Rickets and Hyperparathyroidism

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Animal Models for Hypophosphatemic Rickets and Hyperparathyroidism or affiliated genes

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Publications for Hypophosphatemic Rickets and Hyperparathyroidism

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Articles related to Hypophosphatemic Rickets and Hyperparathyroidism:

idTitleAuthorsYear
1
A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism. (18308935)
2008

Variations for Hypophosphatemic Rickets and Hyperparathyroidism

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Expression for genes affiliated with Hypophosphatemic Rickets and Hyperparathyroidism

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Expression patterns in normal tissues for genes affiliated with Hypophosphatemic Rickets and Hyperparathyroidism

Search GEO for disease gene expression data for Hypophosphatemic Rickets and Hyperparathyroidism.

Pathways for genes affiliated with Hypophosphatemic Rickets and Hyperparathyroidism

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Compounds for genes affiliated with Hypophosphatemic Rickets and Hyperparathyroidism

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GO Terms for genes affiliated with Hypophosphatemic Rickets and Hyperparathyroidism

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Products for genes affiliated with Hypophosphatemic Rickets and Hyperparathyroidism

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hypophosphatemic Rickets and Hyperparathyroidism

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet