HBD
MCID: HYP754
MIFTS: 21

Hypophosphatemic Bone Disease (HBD)

Categories: Bone diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Hypophosphatemic Bone Disease

MalaCards integrated aliases for Hypophosphatemic Bone Disease:

Name: Hypophosphatemic Bone Disease 57 71
Hbd 57

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



External Ids:

OMIM® 57 146350
MedGen 40 C1840321
UMLS 71 C1840321

Summaries for Hypophosphatemic Bone Disease

MalaCards based summary: Hypophosphatemic Bone Disease, also known as hbd, is related to thalassemia and hemoglobin d disease. An important gene associated with Hypophosphatemic Bone Disease is EGID-100187828 (Hypophosphatemic Bone Disease). Affiliated tissues include bone, and related phenotypes are rickets and skeletal dysplasia

More information from OMIM: 146350

Related Diseases for Hypophosphatemic Bone Disease

Diseases related to Hypophosphatemic Bone Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 111)
# Related Disease Score Top Affiliating Genes
1 thalassemia 11.3
2 hemoglobin d disease 11.2
3 fetal hemoglobin quantitative trait locus 1 11.2
4 beta-thalassemia 11.2
5 sickle cell - hemoglobin d disease 11.1
6 hypophosphatemic rickets, autosomal dominant 11.1
7 sickle cell disease 11.0
8 hemoglobinopathy 11.0
9 alpha-thalassemia 11.0
10 sickle cell anemia 10.9
11 deficiency anemia 10.9
12 hemolytic anemia 10.9
13 beta-thalassemia major 10.9
14 hemoglobin e disease 10.9
15 thalassemia minor 10.9
16 gastrojejunal ulcer 10.9
17 middle lobe syndrome 10.9
18 hemoglobin c disease 10.9
19 congenital hemolytic anemia 10.9
20 blood protein disease 10.9
21 periodontitis 10.3
22 bone disease 10.3
23 periodontitis, chronic 10.2
24 anemia, sideroblastic, 1 10.1
25 candidiasis 10.1
26 hypophosphatemia 10.1
27 dermatitis, atopic 10.1
28 salmonellosis 10.1
29 bacterial infectious disease 10.1
30 anemia, hypochromic microcytic, with iron overload 1 10.0
31 helicobacter pylori infection 10.0
32 myocardial infarction 10.0
33 hypochromic microcytic anemia 10.0
34 pertussis 10.0
35 microcytic anemia 10.0
36 chlamydia 10.0
37 dermatitis 10.0
38 gastritis 10.0
39 adenoma 10.0
40 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.0
41 hypophosphatemic rickets, x-linked dominant 10.0
42 sensorineural hearing loss 10.0
43 type 2 diabetes mellitus 9.9
44 oculocerebrocutaneous syndrome 9.9
45 cystic fibrosis 9.9
46 proteasome-associated autoinflammatory syndrome 1 9.9
47 insulin-like growth factor i 9.9
48 abdominal obesity-metabolic syndrome 1 9.9
49 covid-19 9.9
50 common cold 9.9

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



Diseases related to Hypophosphatemic Bone Disease

Symptoms & Phenotypes for Hypophosphatemic Bone Disease

Human phenotypes related to Hypophosphatemic Bone Disease:

30 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 rickets 30 Occasional (7.5%) HP:0002748
2 skeletal dysplasia 30 HP:0002652
3 short stature 30 HP:0004322
4 hypophosphatemia 30 HP:0002148
5 osteomalacia 30 HP:0002749
6 bowing of the legs 30 HP:0002979

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skel:
skeletal dysplasia

Lab:
hypophosphatemia

Radiology:
inconsistent signs of rickets or osteomalacia

Growth:
short stature

Limbs:
bowed legs

Clinical features from OMIM®:

146350 (Updated 08-Dec-2022)

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

Organs/tissues related to Hypophosphatemic Bone Disease:

MalaCards : Bone

Publications for Hypophosphatemic Bone Disease

Articles related to Hypophosphatemic Bone Disease:

(show all 14)
# Title Authors PMID Year
1
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. 57
11062477 2000
2
Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder. 57
9024275 1997
3
Autosomal hypophosphataemic bone disease responds to 1,25-(OH)2D3. 57
7212758 1981
4
Hypophosphatemic nonrachitic bone disease: an entity distinct from X-linked hypophosphatemia in the renal defect, bone involvement, and inheritance. 57
610422 1977
5
Long-Term Follow-up of Hypophosphatemic Bone Disease Associated With Elemental Formula Use: Sustained Correction of Bone Disease After Formula Change or Phosphate Supplementation. 62
32666808 2020
6
Clinical Heterogeneity and Phenotypic Expansion of NaPi-IIa-Associated Disease. 62
29029121 2017
7
Oral findings in patients with autosomal dominant hypophosphatemic bone disease and X-linked hypophosphatemia: further evidence that they are different diseases. 62
2845325 1988
8
[Scriver type autosomal hypophosphatemic rachitis: a family case]. 62
2832821 1987
9
Audiologic findings in young patients with hypophosphatemic bone disease. 62
3740719 1986
10
Renal ultrasound in metabolic bone disease. 62
3513110 1986
11
The effects of Mendelian mutation on renal sulfate and phosphate transport in man and mouse. 62
6701031 1984
12
[Non-rachitic hypophosphatemic osteopathy]. 62
6647072 1983
13
Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease. 62
308618 1978
14
Letter: Hereditary hypophosphatemic bone disease. 62
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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....