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HBD
MCID: HYP754
MIFTS: 21

Hypophosphatemic Bone Disease (HBD)

Categories: Bone diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Hypophosphatemic Bone Disease

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MalaCards integrated aliases for Hypophosphatemic Bone Disease:

Name: Hypophosphatemic Bone Disease 57 70
Hbd 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant
? heterogeneous


HPO:

31
hypophosphatemic bone disease:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Anatomical: Bone diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM® 57 146350
MedGen 41 C1840321
UMLS 70 C1840321
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Summaries for Hypophosphatemic Bone Disease

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

More information from OMIM: 146350
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Related Diseases for Hypophosphatemic Bone Disease

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

(show top 50) (show all 96)
# Related Disease Score Top Affiliating Genes
1 thalassemia 11.3
2 fetal hemoglobin quantitative trait locus 1 11.2
3 beta-thalassemia 11.1
4 hemoglobinopathy 11.1
5 hypophosphatemic rickets, autosomal dominant 11.1
6 alpha-thalassemia 11.0
7 hemoglobin h disease 11.0
8 sickle cell disease 11.0
9 hemoglobin d disease 10.9
10 hemoglobin e disease 10.9
11 neuropathy, hereditary sensory and autonomic, type iib 10.9
12 thalassemia minor 10.9
13 kluver-bucy syndrome 10.9
14 middle lobe syndrome 10.9
15 hemoglobin c disease 10.9
16 congenital hemolytic anemia 10.9
17 blood protein disease 10.9
18 periodontitis 10.3
19 bone disease 10.2
20 periodontitis, chronic 10.1
21 hypochromic microcytic anemia 10.1
22 bacterial infectious disease 10.1
23 candidiasis 10.1
24 hypophosphatemia 10.1
25 dermatitis, atopic 10.1
26 salmonellosis 10.1
27 pertussis 10.0
28 microcytic anemia 10.0
29 chlamydia 10.0
30 dermatitis 10.0
31 gastritis 10.0
32 hemolytic anemia 10.0
33 hypophosphatemic rickets, x-linked dominant 9.9
34 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
35 sensorineural hearing loss 9.9
36 type 2 diabetes mellitus 9.9
37 anemia, hypochromic microcytic, with iron overload 1 9.9
38 cystic fibrosis 9.9
39 proteasome-associated autoinflammatory syndrome 1 9.9
40 asthma 9.9
41 sickle cell anemia 9.9
42 pulpitis 9.9
43 esophagitis 9.9
44 esophageal candidiasis 9.9
45 typhoid fever 9.9
46 gingivitis 9.9
47 gastric adenocarcinoma 9.9
48 peptic ulcer disease 9.9
49 eczema herpeticum 9.9
50 lichen planus 9.9

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



Diseases related to Hypophosphatemic Bone Disease
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Symptoms & Phenotypes for Hypophosphatemic Bone Disease

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Human phenotypes related to Hypophosphatemic Bone Disease:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 rickets 31 occasional (7.5%) HP:0002748
2 skeletal dysplasia 31 HP:0002652
3 short stature 31 HP:0004322
4 hypophosphatemia 31 HP:0002148
5 osteomalacia 31 HP:0002749
6 bowing of the legs 31 HP:0002979

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skel:
skeletal dysplasia

Lab:
hypophosphatemia

Radiology:
inconsistent signs of rickets or osteomalacia

Growth:
short stature

Limbs:
bowed legs

Clinical features from OMIM®:

146350 (Updated 05-Apr-2021)

Sources

Drugs & Therapeutics for Hypophosphatemic Bone Disease

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Search Clinical Trials , NIH Clinical Center for Hypophosphatemic Bone Disease

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Genetic Tests for Hypophosphatemic Bone Disease

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Anatomical Context for Hypophosphatemic Bone Disease

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MalaCards organs/tissues related to Hypophosphatemic Bone Disease:

40
Bone
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Publications for Hypophosphatemic Bone Disease

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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. 61
32666808 2020
6
Clinical Heterogeneity and Phenotypic Expansion of NaPi-IIa-Associated Disease. 61
29029121 2017
7
Oral findings in patients with autosomal dominant hypophosphatemic bone disease and X-linked hypophosphatemia: further evidence that they are different diseases. 61
2845325 1988
8
[Scriver type autosomal hypophosphatemic rachitis: a family case]. 61
2832821 1987
9
Audiologic findings in young patients with hypophosphatemic bone disease. 61
3740719 1986
10
Renal ultrasound in metabolic bone disease. 61
3513110 1986
11
The effects of Mendelian mutation on renal sulfate and phosphate transport in man and mouse. 61
6701031 1984
12
[Non-rachitic hypophosphatemic osteopathy]. 61
6647072 1983
13
Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease. 61
308618 1978
14
Letter: Hereditary hypophosphatemic bone disease. 61
176585 1976
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Variations for Hypophosphatemic Bone Disease

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Expression for Hypophosphatemic Bone Disease

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

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GO Terms for Hypophosphatemic Bone Disease

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Sources for Hypophosphatemic Bone Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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