MCID: HYP312
MIFTS: 22

Hypophosphatemic Rickets and Hyperparathyroidism

Aliases & Classifications for Hypophosphatemic Rickets and Hyperparathyroidism

MalaCards integrated aliases for Hypophosphatemic Rickets and Hyperparathyroidism:

Name: Hypophosphatemic Rickets and Hyperparathyroidism 54 29 13
Hypophosphatemic Rickets with Hyperparathyroidism 29

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
2 patients described


HPO:

32
hypophosphatemic rickets and hyperparathyroidism:
Inheritance autosomal dominant inheritance


Summaries for Hypophosphatemic Rickets and Hyperparathyroidism

MalaCards based summary : Hypophosphatemic Rickets and Hyperparathyroidism, also known as hypophosphatemic rickets with hyperparathyroidism, is related to hypophosphatemic rickets and rickets, and has symptoms including short stature, frontal bossing and macrocephaly. An important gene associated with Hypophosphatemic Rickets and Hyperparathyroidism is HPRHP (Hypophosphatemic Rickets And Hyperparathyroidism). The drugs Ergocalciferol and Vitamin D 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 congenital disorder of glycosylation, type iil 9.5 HPRHP KL

Symptoms & Phenotypes for Hypophosphatemic Rickets and Hyperparathyroidism

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Skeletal:
bone pain
rickets

Genitourinary- Kidneys:
renal phosphate wasting

Head And Neck- Nose:
dysplasia of nasal bones with midface protrusion

Neurologic- Central Nervous System:
arnold-chiari i malformation

Head And Neck- Head:
frontal bossing
macrocephaly

Laboratory- Abnormalities:
hypercalcemia
hypophosphatemia
elevated serum parathyroid hormone (pth)
translocation of chromosomes 9 and 13

Skeletal- Limbs:
bowing of lower extremities

Chest- Ribs Sternum Clavicles And Scapulae:
rachitic rosary

Endocrine Features:
parathyroid hyperplasia, benign


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

Drugs & Therapeutics for Hypophosphatemic Rickets and Hyperparathyroidism

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

(show all 15)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ergocalciferol Approved, Nutraceutical Phase 3 50-14-6 5280793
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
3 Hormone Antagonists Phase 3,Phase 1
4 Hormones Phase 3,Phase 1
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1
6 Bone Density Conservation Agents Phase 3
7 Ergocalciferols Phase 3
8 Micronutrients Phase 3
9 Trace Elements Phase 3
10 Vitamins Phase 3
11 Calciferol Nutraceutical Phase 3
12 Vitamin D2 Nutraceutical Phase 3
13 Calcimimetic Agents Phase 1
14 Cinacalcet Hydrochloride Phase 1
15
Calcitriol Approved, Nutraceutical 32222-06-3 134070 5280453

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets Completed NCT00417612 Phase 3 Paricalcitol
2 Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic Rickets Unknown status NCT00195936 Phase 1 Cinacalcet
3 Calcimimetics in Hypophosphatemic Rickets Unknown status NCT00844740 Cinacalcet

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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