Hypophosphatemic Bone Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 146350

MedGen ⁴⁰ C1840321

SNOMED-CT via HPO ⁶⁹ 105985007 237836003 240190009 more

UMLS ⁷¹ C1840321

Sources

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

Sources

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
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:

Sources

Symptoms & Phenotypes for Hypophosphatemic Bone Disease

Human phenotypes related to Hypophosphatemic Bone Disease:

³⁰ (show all 6)

#	Description	HPO 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)

Sources

Drugs & Therapeutics for Hypophosphatemic Bone Disease

Search Clinical Trials, NIH Clinical Center for Hypophosphatemic Bone Disease

Sources

Genetic Tests for Hypophosphatemic Bone Disease

Sources

Anatomical Context for Hypophosphatemic Bone Disease

Organs/tissues related to Hypophosphatemic Bone Disease:

MalaCards : Bone

Sources

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	ADHR Consortium	11062477	2000
2	Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder. ⁵⁷	Econs MJ...McEnery PT	9024275	1997
3	Autosomal hypophosphataemic bone disease responds to 1,25-(OH)2D3. ⁵⁷	Scriver CR...Cole DE	7212758	1981
4	Hypophosphatemic nonrachitic bone disease: an entity distinct from X-linked hypophosphatemia in the renal defect, bone involvement, and inheritance. ⁵⁷	Scriver CR...Nogrady B	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	Eswarakumar AS...Carpenter TO	32666808	2020
6	Clinical Heterogeneity and Phenotypic Expansion of NaPi-IIa-Associated Disease. ⁶²	Demir K...Magen D	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	Schwartz S...Shields ED	2845325	1988
8	[Scriver type autosomal hypophosphatemic rachitis: a family case]. ⁶²	David L...Francois R	2832821	1987
9	Audiologic findings in young patients with hypophosphatemic bone disease. ⁶²	Meister M...Whyte MP	3740719	1986
10	Renal ultrasound in metabolic bone disease. ⁶²	Jequier S...Reade T	3513110	1986
11	The effects of Mendelian mutation on renal sulfate and phosphate transport in man and mouse. ⁶²	Cole DE...Scriver CR	6701031	1984
12	[Non-rachitic hypophosphatemic osteopathy]. ⁶²	Borzani M...Facchini R	6647072	1983
13	Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease. ⁶²	Scriver CR...Hamstra AJ	308618	1978
14	Letter: Hereditary hypophosphatemic bone disease. ⁶²	Stamp TC...Baker LR	176585	1976

Sources

Genes for Hypophosphatemic Bone Disease

Genes related to Hypophosphatemic Bone Disease (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	EGID-100187828	Hypophosphatemic Bone Disease	Genetic Locus	8.61	GeneCards inferred via : Gene name (show sections)

Sources

Variations for Hypophosphatemic Bone Disease

Sources

Expression for Hypophosphatemic Bone Disease

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

Sources

Pathways for Hypophosphatemic Bone Disease

Sources

GO Terms for Hypophosphatemic Bone Disease

Sources

Sources for Hypophosphatemic Bone Disease

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

HBD MCID: HYP754 MIFTS: 21	Hypophosphatemic Bone Disease (HBD) Categories: Bone diseases	Data Licensing For inquiries, contact: [email protected]
Genes Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Hypophosphatemic Bone Disease (HBD)

Aliases & Classifications for Hypophosphatemic Bone Disease

MalaCards integrated aliases for Hypophosphatemic Bone Disease:

Characteristics:

Inheritance:

Classifications:

External Ids:

Summaries for Hypophosphatemic Bone Disease

Related Diseases for Hypophosphatemic Bone Disease

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

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

Symptoms & Phenotypes for Hypophosphatemic Bone Disease

Human phenotypes related to Hypophosphatemic Bone Disease:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Hypophosphatemic Bone Disease

Genetic Tests for Hypophosphatemic Bone Disease

Anatomical Context for Hypophosphatemic Bone Disease

Organs/tissues related to Hypophosphatemic Bone Disease:

Publications for Hypophosphatemic Bone Disease

Articles related to Hypophosphatemic Bone Disease:

Genes for Hypophosphatemic Bone Disease

Genes related to Hypophosphatemic Bone Disease (0 elite genes):

Variations for Hypophosphatemic Bone Disease

Expression for Hypophosphatemic Bone Disease

Pathways for Hypophosphatemic Bone Disease

GO Terms for Hypophosphatemic Bone Disease

Sources for Hypophosphatemic Bone Disease