MCID: HYP312
MIFTS: 18

Hypophosphatemic Rickets and Hyperparathyroidism malady

Aliases & Classifications for Hypophosphatemic Rickets and Hyperparathyroidism

Aliases & Descriptions for Hypophosphatemic Rickets and Hyperparathyroidism:

Name: Hypophosphatemic Rickets and Hyperparathyroidism 54 29 29 13

Characteristics:

HPO:

32
hypophosphatemic rickets and hyperparathyroidism:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 54 612089

Summaries for Hypophosphatemic Rickets and Hyperparathyroidism

MalaCards based summary : Hypophosphatemic Rickets and Hyperparathyroidism is related to hypophosphatemic rickets and rickets, and has symptoms including bone pain, macrocephaly and frontal bossing. An important gene associated with Hypophosphatemic Rickets and Hyperparathyroidism is HPRHP (Hypophosphatemic Rickets And Hyperparathyroidism). The drugs Ergocalciferol and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include bone.

Description from OMIM: 612089

Related Diseases for Hypophosphatemic Rickets and Hyperparathyroidism

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

id Related Disease Score Top Affiliating Genes
1 hypophosphatemic rickets 10.0
2 rickets 10.0
3 hyperparathyroidism 10.0
4 shaheen syndrome 9.8 HPRHP KL

Symptoms & Phenotypes for Hypophosphatemic Rickets and Hyperparathyroidism

Symptoms by clinical synopsis from OMIM:

612089

Clinical features from OMIM:

612089

Human phenotypes related to Hypophosphatemic Rickets and Hyperparathyroidism:

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 bone pain 32 HP:0002653
2 macrocephaly 32 HP:0000256
3 frontal bossing 32 HP:0002007
4 short stature 32 HP:0004322
5 hyperparathyroidism 32 HP:0000843
6 hypercalcemia 32 HP:0003072
7 elevated circulating parathyroid hormone level 32 HP:0003165
8 parathyroid hyperplasia 32 HP:0008208
9 hypophosphatemic rickets 32 HP:0004912
10 renal phosphate wasting 32 HP:0000117
11 arnold-chiari type i malformation 32 HP:0007099
12 rachitic rosary 32 HP:0000897

Drugs & Therapeutics for Hypophosphatemic Rickets and Hyperparathyroidism

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

(show all 18)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ergocalciferol Approved, Nutraceutical Phase 3 50-14-6 5280793
2 Hormone Antagonists Phase 3,Phase 1
3 Hormones Phase 3,Phase 1
4 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1
5 vitamin d Phase 3
6 Trace Elements Phase 3
7 Ergocalciferols Phase 3
8 Vitamins Phase 3
9 Micronutrients Phase 3
10 Bone Density Conservation Agents Phase 3
11 Vitamin D2 Nutraceutical Phase 3
12 Calciferol Nutraceutical Phase 3
13 Cinacalcet Hydrochloride Phase 1
14 Calcimimetic Agents Phase 1
15
Teriparatide Approved, Investigational 52232-67-4 16133850
16
Calcitriol Approved, Nutraceutical 32222-06-3 134070 5280453
17 glucocorticoids
18 Calcium, Dietary

Interventional clinical trials:


id Name Status NCT ID Phase
1 Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets Completed NCT00417612 Phase 3
2 Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic Rickets Unknown status NCT00195936 Phase 1
3 Calcimimetics in Hypophosphatemic Rickets Unknown status NCT00844740
4 Study of the Diagnostic Value of Stable Calcium Isotope Profiling in Bone and Calcium Disorders Recruiting NCT02252679

Search NIH Clinical Center for Hypophosphatemic Rickets and Hyperparathyroidism

Genetic Tests for Hypophosphatemic Rickets and Hyperparathyroidism

Genetic tests related to Hypophosphatemic Rickets and Hyperparathyroidism:

id Genetic test Affiliating Genes
1 Hypophosphatemic Rickets and Hyperparathyroidism 29
2 Hypophosphatemic Rickets with Hyperparathyroidism 29

Anatomical Context for Hypophosphatemic Rickets and Hyperparathyroidism

MalaCards organs/tissues related to Hypophosphatemic Rickets and Hyperparathyroidism:

39
Bone

Publications for Hypophosphatemic Rickets and Hyperparathyroidism

Articles related to Hypophosphatemic Rickets and Hyperparathyroidism:

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

Variations for Hypophosphatemic Rickets and Hyperparathyroidism

Expression for Hypophosphatemic Rickets and Hyperparathyroidism

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

Pathways for Hypophosphatemic Rickets and Hyperparathyroidism

GO Terms for Hypophosphatemic Rickets and Hyperparathyroidism

Sources for Hypophosphatemic Rickets and Hyperparathyroidism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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