MCID: HYP312
MIFTS: 16

Hypophosphatemic Rickets and Hyperparathyroidism malady

Summaries for Hypophosphatemic Rickets and Hyperparathyroidism

About this section


MalaCards based summary: Hypophosphatemic Rickets and Hyperparathyroidism is related to hyperparathyroidism and hypophosphatemic 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). Affiliated tissues include bone.

Description from OMIM:47 612089

Aliases & Classifications for Hypophosphatemic Rickets and Hyperparathyroidism

About this section

Hypophosphatemic Rickets and Hyperparathyroidism, Aliases & Descriptions:

Name: Hypophosphatemic Rickets and Hyperparathyroidism 47 11


External Ids:

OMIM47 612089

Related Diseases for Hypophosphatemic Rickets and Hyperparathyroidism

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1hyperparathyroidism30.6KL
2hypophosphatemic rickets10.4
3rickets10.4

Symptoms for Hypophosphatemic Rickets and Hyperparathyroidism

About this section

Symptoms by clinical synopsis from OMIM:

612089

Clinical features from OMIM:

612089

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

About this section

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

About this section

Anatomical Context for Hypophosphatemic Rickets and Hyperparathyroidism

About this section

MalaCards organs/tissues related to Hypophosphatemic Rickets and Hyperparathyroidism:

33
Bone

Animal Models for Hypophosphatemic Rickets and Hyperparathyroidism or affiliated genes

About this section

Publications for Hypophosphatemic Rickets and Hyperparathyroidism

About this section

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

About this section

Expression for genes affiliated with Hypophosphatemic Rickets and Hyperparathyroidism

About this section

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

Pathways for genes affiliated with Hypophosphatemic Rickets and Hyperparathyroidism

About this section

Compounds for genes affiliated with Hypophosphatemic Rickets and Hyperparathyroidism

About this section

GO Terms for genes affiliated with Hypophosphatemic Rickets and Hyperparathyroidism

About this section

Products for genes affiliated with Hypophosphatemic Rickets and Hyperparathyroidism

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hypophosphatemic Rickets and Hyperparathyroidism

About this section
4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet