MCID: HYP312
MIFTS: 17

Hypophosphatemic Rickets and Hyperparathyroidism

Aliases & Classifications for Hypophosphatemic Rickets and Hyperparathyroidism

MalaCards integrated aliases for Hypophosphatemic Rickets and Hyperparathyroidism:

Name: Hypophosphatemic Rickets and Hyperparathyroidism 56 13
Hypophosphatemic Rickets with Hyperparathyroidism 29

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
2 patients described


HPO:

31
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, x-linked recessive and hypophosphatemic rickets, x-linked dominant. An important gene associated with Hypophosphatemic Rickets and Hyperparathyroidism is HPRHP (Hypophosphatemic Rickets And Hyperparathyroidism). Affiliated tissues include bone, and related phenotypes are macrocephaly and short stature

More information 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:

# Related Disease Score Top Affiliating Genes
1 hypophosphatemic rickets, x-linked recessive 10.2
2 hypophosphatemic rickets, x-linked dominant 10.2
3 hyperphosphatemia 10.2
4 rickets 10.2
5 renal osteodystrophy 10.2
6 hyperparathyroidism 10.2

Graphical network of the top 20 diseases related to Hypophosphatemic Rickets and Hyperparathyroidism:



Diseases related to Hypophosphatemic Rickets and Hyperparathyroidism

Symptoms & Phenotypes for Hypophosphatemic Rickets and Hyperparathyroidism

Human phenotypes related to Hypophosphatemic Rickets and Hyperparathyroidism:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 short stature 31 HP:0004322
3 frontal bossing 31 HP:0002007
4 hyperparathyroidism 31 HP:0000843
5 hypercalcemia 31 HP:0003072
6 bone pain 31 HP:0002653
7 rachitic rosary 31 HP:0000897
8 elevated circulating parathyroid hormone level 31 HP:0003165
9 arnold-chiari type i malformation 31 HP:0007099
10 renal phosphate wasting 31 HP:0000117
11 hypophosphatemic rickets 31 HP:0004912
12 parathyroid hyperplasia 31 HP:0008208

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly
frontal bossing

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

Chest Ribs Sternum Clavicles And Scapulae:
rachitic rosary

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

Neurologic Central Nervous System:
arnold-chiari i malformation

Growth Height:
short stature

Skeletal:
rickets
bone pain

Genitourinary Kidneys:
renal phosphate wasting

Skeletal Limbs:
bowing of lower extremities

Endocrine Features:
parathyroid hyperplasia, benign

Clinical features from OMIM:

612089

Drugs & Therapeutics for Hypophosphatemic Rickets and Hyperparathyroidism

Search Clinical Trials , NIH Clinical Center for Hypophosphatemic Rickets and Hyperparathyroidism

Genetic Tests for Hypophosphatemic Rickets and Hyperparathyroidism

Genetic tests related to Hypophosphatemic Rickets and Hyperparathyroidism:

# Genetic test Affiliating Genes
1 Hypophosphatemic Rickets with Hyperparathyroidism 29

Anatomical Context for Hypophosphatemic Rickets and Hyperparathyroidism

MalaCards organs/tissues related to Hypophosphatemic Rickets and Hyperparathyroidism:

40
Bone

Publications for Hypophosphatemic Rickets and Hyperparathyroidism

Articles related to Hypophosphatemic Rickets and Hyperparathyroidism:

# Title Authors PMID Year
1
A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism. 56 61
18308935 2008
2
Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. 56
9106524 1997
3
The concurrence of hypoparathyroidism provides new insights to the pathophysiology of X-linked hypophosphatemic rickets. 61
4038714 1985

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
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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