HBD
MCID: HYP754
MIFTS: 26

Hypophosphatemic Bone Disease (HBD)

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, brain and liver, and related phenotypes are skeletal dysplasia and short stature

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
Skel:
skeletal dysplasia

Lab:
hypophosphatemia

Radiology:
inconsistent signs of rickets or osteomalacia

Growth:
short stature

Limbs:
bowed legs


Clinical features from OMIM:

146350

Human phenotypes related to Hypophosphatemic Bone Disease:

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

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, Brain, Liver, Prostate, Skin, Heart, Thyroid

Publications for Hypophosphatemic Bone Disease

Articles related to Hypophosphatemic Bone Disease:

(show top 50) (show all 72)
# Title Authors Year
1
Human beta defensin (HBD) gene copy number affects HBD2 protein levels: impact on cervical bactericidal immunity in pregnancy. ( 29367706 )
2018
2
The RLR/NLR expression and pro-inflammatory activity of tissue mast cells are regulated by cathelicidin LL-37 and defensin hBD-2. ( 30082780 )
2018
3
The Designer Antimicrobial Peptide A-hBD-2 Facilitates Skin Wound Healing by Stimulating Keratinocyte Migration and Proliferation. ( 30463067 )
2018
4
Hb A2-Tianhe (HBD: c.323G>A): First Report in a Chinese Family with Normal Hb A2-β-Thalassemia Trait. ( 29251016 )
2017
5
Validation of the Use of Trinity Biotech ultra2 as a Comparative Method for Hemoglobin A1c Measurements in the Presence of HbE and HbD-Punjab Traits. ( 27979960 )
2017
6
Hb A2 Episkopi - a novel δ-globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot-Lebanese descent. ( 28007020 )
2017
7
Phenotypic Evaluation of a Novel Nucleotide Substitution (HBD: c.442T>C) on the δ-Globin Gene. ( 28840768 )
2017
8
Comparison of IL-1β, TNF-α, hBD-2, and hBD-3 Expression in the Dental Pulp of Smokers Versus Nonsmokers. ( 29033092 )
2017
9
The significance of HBD-3 and fluorescent composite carriers in the processof bone formation in rats infected with Staphylococcus aureus. ( 29077172 )
2017
10
A New δ-Globin Gene Variant: Hb A2-Fengshun [δ121(GH4)Glu→Lys (HBD: c.364G > A)]. ( 27117573 )
2016
11
HBD-3 regulation of the immune response and the LPS/TLR4-mediated signaling pathway. ( 27703496 )
2016
12
Vitamin D and L-Isoleucine Promote Antimicrobial Peptide hBD-2 Production in Peripheral Blood Mononuclear Cells from Elderly Individuals. ( 29052469 )
2016
13
Performances of capillary electrophoresis and HPLC methods in HbA1c determination: diagnostic accuracy in HbS and HbD-Iran variants' presence. ( 24687307 )
2015
14
A rare case of double heterozygous state for HbD and HbE. ( 25673618 )
2015
15
Distinctive patterns of evolution of the δ-globin gene (HBD) in primates. ( 25853817 )
2015
16
Overexpressions of hBD-2, hBD-3, and hCAP18/LL-37 in Gingiva of Diabetics with Periodontitis. ( 26092093 )
2015
17
Dehydroandrographolide enhances innate immunity of intestinal tract through up-regulation the expression of hBD-2. ( 26223251 )
2015
18
Coexistence of rare variant HbD Punjab [α2β2(121(Glu→Gln))] and alpha 3.7 kb deletion in a young boy of Hindu family in West Bengal, India. ( 26474154 )
2015
19
Hb A2-Konz [δ50(D1)Ser → Thr; HBD: c.151T > A]: a new δ chain hemoglobin variant characterized by mass spectrometry and high performance liquid chromatography. ( 24471805 )
2014
20
Synergistic anti-inflammatory activity of the antimicrobial peptides human beta-defensin-3 (hBD-3) and cathelicidin (LL-37) in a three-dimensional co-culture model of gingival epithelial cells and fibroblasts. ( 25187958 )
2014
21
Effective control of Salmonella infections by employing combinations of recombinant antimicrobial human β-defensins hBD-1 and hBD-2. ( 25199778 )
2014
22
Expression of human beta-defensins-1-4 in thyroid cancer cells and new insight on biologic activity of hBD-2 in vitro. ( 25265350 )
2014
23
HbD Punjab/HbQ India Compound Heterozygosity: An Unusual Association. ( 25408858 )
2014
24
Discrepancy between HbA1c and fasting glucose results due to HbD. ( 23198773 )
2013
25
Two new δ-globin gene variants: Hb A(2)-Saint-Etienne [δ14(A11)Leu→Pro (HBD: c.44T>C)] and Hb A(2)-Marseille [δ22(B4) Ala→Lys (HBD: c.67G>A;68C>A)]. ( 23227922 )
2013
26
Evolutionary constraints in the β-globin cluster: the signature of purifying selection at the δ-globin (HBD) locus and its role in developmental gene regulation. ( 23431002 )
2013
27
HPLC-ESI-MS/MS analysis of hemoglobin peptides in tryptic digests of dried-blood spot extracts detects HbS, HbC, HbD, HbE, HbO-Arab, and HbG-Philadelphia mutations. ( 23796846 )
2013
28
First reported case of compound heterozygosity for HbA2-Yialousa (HBD: c.82 G>C) and HbA2-Wrens (HBD: c.295 G>A) in Oman. ( 23797957 )
2013
29
Expression of hBD-2 induced by 23-valent pneumococcal polysaccharide vaccine, Haemophilus influenzae type b vaccine and split influenza virus vaccine. ( 22842707 )
2012
30
In vitro secretion profile of pro-inflammatory cytokines IL-1β, TNF-α, IL-6, and of human beta-defensins (HBD)-1, HBD-2, and HBD-3 from human chorioamniotic membranes after selective stimulation with Gardnerella vaginalis. ( 21752147 )
2012
31
IGF-1 deficiency in combination with a low basic hBD-2 and hBD-3 gene expression might counteract malignant transformation in pleomorphic adenomas in vitro. ( 22250586 )
2012
32
Tissue-specific human beta-defensins (HBD)-1, HBD-2 and HBD-3 secretion profile from human amniochorionic membranes stimulated with Candida albicans in a two-compartment tissue culture system. ( 22943496 )
2012
33
Interaction of - α 3.7, ß Thalassemia Mutation IVS 1-5 and HbD Punjab in a Family: A Case Report. ( 26405395 )
2012
34
First report of Hb A2-NYU (HBD:c.39T>A) in the Hellenic population. ( 21250887 )
2011
35
Suppression subtractive hybridization identifies bacterial genomic regions that are possibly involved in hBD-2 regulation by enterocytes. ( 21710560 )
2011
36
Compound heterozygosity for HbD Punjab and polyadenylation signal mutation causes clinically asymptomatic mild hypochromia and microcytosis. ( 19727721 )
2010
37
Phylogenetic and structural analysis of the HbA (alphaA/betaA) and HbD (alphaD/betaA) hemoglobin genes in two high-altitude waterfowl from the Himalayas and the Andes: Bar-headed goose (Anser indicus) and Andean goose (Chloephaga melanoptera). ( 20434566 )
2010
38
Rhamnolipid-induced shedding of flagellin from Pseudomonas aeruginosa provokes hBD-2 and IL-8 response in human keratinocytes. ( 19215625 )
2009
39
Quantification of HbA(2) in patients with and without beta-thalassemia and in the presence of HbS, HbC, HbE, and HbD Punjab hemoglobin variants: comparison of two systems. ( 19233839 )
2009
40
Regulation of Iron Homeostasis: Is It All in the HBD? ( 19245872 )
2009
41
Antibacterial activity of human defensins on anaerobic intestinal bacterial species: a major role of HBD-3. ( 19397883 )
2009
42
Selective reciprocity in antimicrobial activity versus cytotoxicity of hBD-2 and crotamine. ( 19706485 )
2009
43
Increased production of beta-defensin 3 (hBD-3) by human amniotic epithelial cells (HAEC) after activation of toll-like receptor 4 in chorioamnionitis. ( 18345485 )
2008
44
Low oxygen affinity in reptilian hemoglobin D: prediction of residue interactions in Geochelone carbonaria HbD by homology modeling. ( 18085430 )
2008
45
Effects of hemoglobin (Hb) E and HbD traits on measurements of glycated Hb (HbA1c) by 23 methods. ( 18556332 )
2008
46
Performance evaluation of ion exchange and affinity chromatography for HbA1c estimation in diabetic patients with HbD: a study of 129 samples. ( 18644359 )
2008
47
Gene symbol: HBD. Disease: Thalassaemia delta. ( 20960660 )
2008
48
Loss of rapid transferrin receptor recycling due to a mutation in Sec15l1 in hbd mice. ( 17087999 )
2007
49
Gene symbol: HBD. ( 17598211 )
2007
50
Effects of AV119, a natural sugar from avocado, on Malassezia furfur invasiveness and on the expression of HBD-2 and cytokines in human keratinocytes. ( 17927574 )
2007

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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