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 53 28 13
Hypophosphatemic Rickets with Hyperparathyroidism 28

Characteristics:

OMIM:

53
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 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). 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:

# Related Disease Score Top Affiliating Genes
1 hypophosphatemic rickets, x-linked recessive 10.0
2 rickets 10.0
3 hyperparathyroidism 10.0

Symptoms & Phenotypes for Hypophosphatemic Rickets and Hyperparathyroidism

Symptoms via clinical synopsis from OMIM:

53
Skeletal:
bone pain
rickets

Growth Height:
short stature

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:
macrocephaly
frontal bossing

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

Chest RibsSternum Clavicles And Scapulae:
rachitic rosary

Skeletal Limbs:
bowing of lower extremities

Endocrine Features:
parathyroid hyperplasia, benign


Clinical features from OMIM:

612089

Human phenotypes related to Hypophosphatemic Rickets and Hyperparathyroidism:

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

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 28
2 Hypophosphatemic Rickets with Hyperparathyroidism 28

Anatomical Context for Hypophosphatemic Rickets and Hyperparathyroidism

MalaCards organs/tissues related to Hypophosphatemic Rickets and Hyperparathyroidism:

38
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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