MCID: HYP312
MIFTS: 13

Hypophosphatemic Rickets and Hyperparathyroidism malady

Aliases & Classifications for Hypophosphatemic Rickets and Hyperparathyroidism

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Aliases & Descriptions for Hypophosphatemic Rickets and Hyperparathyroidism:

Name: Hypophosphatemic Rickets and Hyperparathyroidism 49 11


External Ids:

OMIM49 612089

Summaries for Hypophosphatemic Rickets and Hyperparathyroidism

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

Description from OMIM:49 612089

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hypophosphatemic rickets10.4
2rickets10.4
3hyperparathyroidism10.4
4hypophosphatemic rickets and hyperparathyroidism9.8HPRHP, KL

Symptoms for Hypophosphatemic Rickets and Hyperparathyroidism

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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 hyperparathyroidism HP:0000843
5 rachitic rosary HP:0000897
6 frontal bossing HP:0002007
7 bone pain HP:0002653
8 hypercalcemia HP:0003072
9 elevated circulating parathyroid hormone (pth) level HP:0003165
10 short stature HP:0004322
11 hypophosphatemic rickets HP:0004912
12 arnold-chiari type i malformation HP:0007099
13 parathyroid hyperplasia HP:0008208

Drugs & Therapeutics for Hypophosphatemic Rickets and Hyperparathyroidism

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Drugs for Hypophosphatemic Rickets and Hyperparathyroidism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1vitamin dPhase 31463
2
Teriparatideapproved, investigational12852232-67-416133850
Synonyms:
52232-67-4
D06078
Forteo
 
Forteo (TN)
TERIPARATIDE
Teriparatide (USAN/INN)
Teriparatide (genetical recombination)
Teriparatide (genetical recombination) (JAN)
3
Calcitriolapproved, nutraceutical15832222-06-3134070, 5280453
Synonyms:
(1R,3S)-5-{2-[(1R,3aS,7aR)-1-((R)-5-Hydroxy-1,5-dimethyl-hexyl)-7a-methyl-octahydro-inden-4-ylidene]-ethylidene}-4-methylene-cyclohexane-1,3-diol
(1R,3S,5Z)-5-[(2E)-2-[(1R,3aS,7aR)-1-[(2R)-6-hydroxy-6-methylheptan-2-yl]-7a-methyl-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]-4-methylidenecyclohexane-1,3-diol
(1S,3R,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol
(1S,3R,5Z,7E)-9,10-secocholesta-5,7,10-triene-1,3,25-triol
(1S,3R,5Z,7e)-9,10-Secocholesta-5,7,10-triene-1,3,25-triol
(1alpha,3beta,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol
(1alpha,3beta,5Z,7e)-9,10-Secocholesta-5,7,10(19)-triene-1,3,25-triol
(3b,5Z,7E)-9,10-Secocholesta-5,7,10(19)-trienetriol
(5Z,7E)-(1S,3R)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol
(5Z,7E)-9,10-Secocholesta-5,7,10(19)-triene-1-alpha,3-beta,25-triol
(5Z,7E)-9,10-Secocholesta-5,7,10(19)-triene-1alpha,3beta,25-triol
(5Z,7e)-(1S,3R)-9,10-Secocholesta-5,7,10(19)-triene-1,3,25-triol
1 alpha,25-Dihydroxyvitamin D3
1,25 (OH)2 D3
1,25 Dihydroxycholecalciferol
1,25(OH)2-20epi-D3
1,25(OH)2D3 & CD4
1,25(OH2)D3
1,25-(OH)2-D3
1,25-(OH)2D3
1,25-DHCC
1,25-DIHYDROXYCHOLECALCIFEROL
1,25-Dihydroxycholecalciferol
1,25-Dihydroxycholecaliferol
1,25-Dihydroxyvitamin D
1,25-Dihydroxyvitamin D3
1,25-dihydroxy vitamin D3
1,25-dihydroxy-20-epi-Vitamin D3
1,25-dihydroxycholecalciferol
1,25D3
1-alpha,-1,25-Dihydroxyvitamin D3
1-alpha,25-Dihydroxycholecalciferol
1-alpha,25-Dihydroxyvitamin D3
1-alpha-25-Dihydroxyvitamin D3
1-alpha-25-dihydroxyvitamin D3
1.Alpha.,25-Dihydroxy-26,27-hexadeuterovitamin D3
17936_FLUKA
17936_SIGMA
1a,25-(OH)2D3
1a,25-Dihydroxycholecalciferol
1a,25-Dihydroxyvitamin D3
1alpha,25(OH)2-D3
1alpha,25(OH)2D3
1alpha,25-Dihydroxycholecalciferol
1alpha,25-Dihydroxyvitamin D
1alpha,25-Dihydroxyvitamin D3
1db1
1α,25(OH)2D3
1α,25-dihydroxycholecalciferol
1α,25-dihydroxyvitamin D3
20-epi-1alpha,25-dihydroxycholecaliferol
25-Dihydroxycholecalciferol
32222-06-3
5-{2-[1-(5-hydroxy-1,5-dimethyl-hexyl)-7a-methyl-octahydro-inden-4-ylidene]-ethylidene}-4-methylene-cyclohexane-1,3-diol
9,10-Seco(5Z,7E)-5,7,10(19)-cholestatriene-1alpha,3beta,25-triol
9,10-Secocholesta-5,7,10(19)-triene-1,3,25-triol, (1.alpha.,3.beta,.5Z,7E)- & CD4
9,10-seco(5Z,7E)-5,7,10(19)-cholestatriene-1alpha, 3beta, 25-triol
AC-1859
AC1NQX1S
 
Ambap32222-06-3
Asentar
BCBcMAP01_000160
BML2-E03
BSPBio_001287
C01673
CCRIS 5522
CD-2027
CHEBI:17823
CHEMBL846
CID5280453
CPD000466393
Calcijex
Calcijex, Silkis, Rocaltrol, Topitriol, Cholecalciferol,Calcitriol
Calcitriol
Calcitriol (JAN/USAN/INN)
Calcitriol [USAN:INN:BAN:JAN]
Calcitriolum
Calcitriolum [INN-Latin]
D00129
D1530_SIGMA
DN 101
DN-101
Decostriol
Dihydroxyvitamin D3
EINECS 250-963-8
HMS1361A09
HMS1791A09
HMS1989A09
HMS2051F06
HMS2089N03
HSDB 3482
IDI1_033757
LMST03020258
LS-53093
MC-1288
MC1288
MLS000759536
MLS001424122
MolPort-002-045-698
NCGC00161327-01
NCGC00161327-04
Ro 21-5535
Ro 215535
Ro-21-5535
Rocaltrol
Rocaltrol (TN)
S1466_Selleck
SAM001246772
SMR000466393
Silkis
Soltriol
Spectrum5_002061
Topitriol
Toptriol
U 49562
Vectical
ZINC03924790
calcitriol
vit D
4Calcium, Dietary3529

Interventional clinical trials:

idNameStatusNCT IDPhase
1Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic RicketsCompletedNCT00417612Phase 3
2Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic RicketsRecruitingNCT00195936Phase 1
3Study of the Diagnostic Value of Stable Calcium Isotope Profiling in Bone and Calcium DisordersRecruitingNCT02252679
4Calcimimetics in Hypophosphatemic RicketsEnrolling by invitationNCT00844740

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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MalaCards organs/tissues related to Hypophosphatemic Rickets and Hyperparathyroidism:

33
Bone

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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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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GO Terms for genes affiliated with Hypophosphatemic Rickets and Hyperparathyroidism

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Sources for Hypophosphatemic Rickets and Hyperparathyroidism

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet