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 57 29 13
Hypophosphatemic Rickets with Hyperparathyroidism 29

Characteristics:

OMIM:

57
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, 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 renal phosphate wasting and macrocephaly

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:

57
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

Human phenotypes related to Hypophosphatemic Rickets and Hyperparathyroidism:

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

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 29
2 Hypophosphatemic Rickets with Hyperparathyroidism 29

Anatomical Context for Hypophosphatemic Rickets and Hyperparathyroidism

MalaCards organs/tissues related to Hypophosphatemic Rickets and Hyperparathyroidism:

41
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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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