MCID: HYP754
MIFTS: 20

Hypophosphatemic Bone Disease

Categories: Bone diseases

Aliases & Classifications for Hypophosphatemic Bone Disease

MalaCards integrated aliases for Hypophosphatemic Bone Disease:

Name: Hypophosphatemic Bone Disease 57 73
Hbd 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
? heterogeneous


HPO:

32
hypophosphatemic bone disease:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypophosphatemic Bone Disease

MalaCards based summary : Hypophosphatemic Bone Disease, also known as hbd, is related to fetal hemoglobin quantitative trait locus 1 and thalassemia. An important gene associated with Hypophosphatemic Bone Disease is SLC34A3 (Solute Carrier Family 34 Member 3). Affiliated tissues include bone, and related phenotypes are hypophosphatemia and skeletal dysplasia

Description from OMIM: 146350

Related Diseases for Hypophosphatemic Bone Disease

Graphical network of the top 20 diseases related to Hypophosphatemic Bone Disease:



Diseases related to Hypophosphatemic Bone Disease

Symptoms & Phenotypes for Hypophosphatemic Bone Disease

Symptoms via clinical synopsis from OMIM:

57
Growth:
short stature

Limbs:
bowed legs

Lab:
hypophosphatemia

Skel:
skeletal dysplasia

Radiology:
inconsistent signs of rickets or osteomalacia


Clinical features from OMIM:

146350

Human phenotypes related to Hypophosphatemic Bone Disease:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hypophosphatemia 32 HP:0002148
2 skeletal dysplasia 32 HP:0002652
3 rickets 32 occasional (7.5%) HP:0002748
4 osteomalacia 32 HP:0002749
5 bowing of the legs 32 HP:0002979
6 short stature 32 HP:0004322

Drugs & Therapeutics for Hypophosphatemic Bone Disease

Search Clinical Trials , NIH Clinical Center for Hypophosphatemic Bone Disease

Genetic Tests for Hypophosphatemic Bone Disease

Anatomical Context for Hypophosphatemic Bone Disease

MalaCards organs/tissues related to Hypophosphatemic Bone Disease:

41
Bone

Publications for Hypophosphatemic Bone Disease

Articles related to Hypophosphatemic Bone Disease:

# Title Authors Year
1
Oral findings in patients with autosomal dominant hypophosphatemic bone disease and X-linked hypophosphatemia: further evidence that they are different diseases. ( 2845325 )
1988
2
Audiologic findings in young patients with hypophosphatemic bone disease. ( 3740719 )
1986
3
Letter: Hereditary hypophosphatemic bone disease. ( 176585 )
1976

Variations for Hypophosphatemic Bone Disease

Expression for Hypophosphatemic Bone Disease

Search GEO for disease gene expression data for Hypophosphatemic Bone Disease.

Pathways for Hypophosphatemic Bone Disease

GO Terms for Hypophosphatemic Bone Disease

Sources for Hypophosphatemic Bone Disease

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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