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

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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:

MalaCards categories:
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 146350

MedGen ⁴² C1840321

SNOMED-CT via HPO ⁶⁹ 263681008 4996001 105985007 more

UMLS ⁷³ C1840321

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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

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Related Diseases for Hypophosphatemic Bone Disease

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

(show all 29)

#	Related Disease	Score
1	fetal hemoglobin quantitative trait locus 1	11.6
2	thalassemia	11.5
3	beta-thalassemia	11.4
4	hemoglobinopathy	11.4
5	hemoglobin h disease	11.0
6	sickle cell disease	11.0
7	malignant essential hypertension	10.9
8	malignant secondary hypertension	10.9
9	pleuropneumonia	10.9
10	kluver-bucy syndrome	10.9
11	hemoglobin c disease	10.9
12	hemoglobin d disease	10.9
13	hemoglobin e disease	10.9
14	congenital hemolytic anemia	10.9
15	osgood-schlatter's disease	10.9
16	hypophosphatemic rickets, autosomal dominant	10.9
17	autosomal genetic disease	10.8
18	hemoglobin lepore-beta-thalassemia syndrome	10.8
19	bone disease	10.0
20	prostate cancer	10.0
21	gingivitis	10.0
22	periodontitis	10.0
23	dermatitis, atopic	9.8
24	mucositis	9.8
25	aggressive periodontitis	9.8
26	dermatitis	9.8
27	eczema herpeticum	9.8
28	hypophosphatemic rickets, x-linked dominant	9.8
29	hypophosphatemia	9.8

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

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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

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Drugs & Therapeutics for Hypophosphatemic Bone Disease

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

MalaCards organs/tissues related to Hypophosphatemic Bone Disease:

⁴¹

Bone

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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 )	Schwartz S....Shields E.D.	1988
2	Audiologic findings in young patients with hypophosphatemic bone disease. ( 3740719 )	Meister M....Whyte M.P.	1986
3	Letter: Hereditary hypophosphatemic bone disease. ( 176585 )	Stamp T.C....Baker L.R.	1976

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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	PubmedIds
1	SLC34A3	Solute Carrier Family 34 Member 3	Protein Coding	18.86	GeneCards inferred via : Variants (show sections)
2	EGID-100187828	Hypophosphatemic Bone Disease	Genetic Locus	8.57	GeneCards inferred via : Gene name (show sections)

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Variations for Hypophosphatemic Bone Disease

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Expression for Hypophosphatemic Bone Disease

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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