MCID: HYP312
MIFTS: 18

Hypophosphatemic Rickets and Hyperparathyroidism

Aliases & Classifications for Hypophosphatemic Rickets and Hyperparathyroidism

MalaCards integrated aliases for Hypophosphatemic Rickets and Hyperparathyroidism:

Name: Hypophosphatemic Rickets and Hyperparathyroidism 58 30 13
Hypophosphatemic Rickets with Hyperparathyroidism 30

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
2 patients described


HPO:

33
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 rickets. 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 frontal bossing

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:

# Related Disease Score Top Affiliating Genes
1 hypophosphatemic rickets, x-linked recessive 10.2
2 rickets 10.2
3 hyperparathyroidism 10.2

Symptoms & Phenotypes for Hypophosphatemic Rickets and Hyperparathyroidism

Human phenotypes related to Hypophosphatemic Rickets and Hyperparathyroidism:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 HP:0000256
2 frontal bossing 33 HP:0002007
3 short stature 33 HP:0004322
4 hyperparathyroidism 33 HP:0000843
5 hypercalcemia 33 HP:0003072
6 elevated circulating parathyroid hormone level 33 HP:0003165
7 parathyroid hyperplasia 33 HP:0008208
8 bone pain 33 HP:0002653
9 hypophosphatemic rickets 33 HP:0004912
10 arnold-chiari type i malformation 33 HP:0007099
11 renal phosphate wasting 33 HP:0000117
12 rachitic rosary 33 HP:0000897

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly
frontal bossing

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

Genitourinary Kidneys:
renal phosphate wasting

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

Chest Ribs Sternum Clavicles And Scapulae:
rachitic rosary

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 and Hyperparathyroidism 30
2 Hypophosphatemic Rickets with Hyperparathyroidism 30

Anatomical Context for Hypophosphatemic Rickets and Hyperparathyroidism

MalaCards organs/tissues related to Hypophosphatemic Rickets and Hyperparathyroidism:

42
Bone

Publications for Hypophosphatemic Rickets and Hyperparathyroidism

Articles related to Hypophosphatemic Rickets and Hyperparathyroidism:

# 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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