VDRR
MCID: HRD086
MIFTS: 36

Hereditary Hypophosphatemic Rickets (VDRR) malady

Bone diseases, Genetic diseases categories

Summaries for Hereditary Hypophosphatemic Rickets

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21Genetics Home Reference, 32MalaCards
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Genetics Home Reference:21 Hereditary hypophosphatemic rickets is a disorder related to low levels of phosphate in the blood (hypophosphatemia). Phosphate is a mineral that is essential for the normal formation of bones and teeth.

MalaCards: Hereditary Hypophosphatemic Rickets, also known as vitamin d-resistant rickets, is related to hypophosphatemia and rickets. An important gene associated with Hereditary Hypophosphatemic Rickets is SLC34A3 (solute carrier family 34 (type II sodium/phosphate contransporter), member 3), and among its related pathways are Type II Na+/Pi cotransporters and Amino acid and oligopeptide SLC transporters. The drugs ergocalciferol and potassium phosphate and the compounds hydroxyapatite and phosphorus have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are digestive/alimentary and renal/urinary system.

Aliases & Classifications for Hereditary Hypophosphatemic Rickets

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21Genetics Home Reference, 60UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases
Anatomical: Bone diseases


Aliases & Descriptions:

hereditary hypophosphatemic rickets 21
vitamin d-resistant rickets 21 60
hypophosphatemia 21 60
familial hypophosphatemic bone disease 60
vdrr 21


Related Diseases for Hereditary Hypophosphatemic Rickets

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17GeneCards, 18GeneDecks
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Diseases related to Hereditary Hypophosphatemic Rickets via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 124)
idRelated DiseaseScoreTop Affiliating Genes
1hypophosphatemia31.7SLC34A3, SLC34A1, FGF23, MEPE, DMP1, SFRP4
2rickets31.3SLC34A3, FGF23, MEPE, DMP1, SFRP4
3x-linked hypophosphatemia31.2SLC34A3, SLC34A1, FGF23, MEPE, DMP1, SFRP4
4hypophosphatemic rickets with hypercalciuria30.3SLC34A3
5nephrocalcinosis30.3SLC34A3, SLC34A1
6nephrolithiasis30.3SLC34A3, SLC34A1, FGF23
7osteomalacia30.3SFRP4, DMP1, MEPE, FGF23, SLC34A3
8hypophosphatemic rickets, autosomal dominant30.2SFRP4, MEPE, FGF23
9mccune albright syndrome30.2FGF23
10hyperphosphatemia30.1SLC34A1, FGF23, GALNT3, SFRP4
11hyperphosphatemic familial tumoral calcinosis29.7FGF23, GALNT3
12epidermal nevus vitamin d resistant rickets10.5
13hepatitis10.4
14diabetes insipidus10.4
15nephrogenic diabetes insipidus10.4
16hereditary hypophosphatemic rickets with hypercalciuria10.4
17anorexia nervosa10.3
18respiratory failure10.3
19osteoblastoma10.3
20congenital ichthyosiform erythroderma10.3
21lipoatrophic diabetes10.3
22alopecia10.3
23hemangioma10.3
24hyperthyroidism10.3
25hypokalemia10.2
26leukemia10.2
27hypophosphatemic rickets, ar10.2
28diabetic ketoacidosis10.2
29hyperparathyroidism10.2
30hypercalcemia10.1
31acute leukemia10.1
32x-linked disease10.1
33panic disorder10.1
34metabolic acidosis10.1
35hemolytic anemia10.1
36multiple myeloma10.1
37myeloma10.1
38pancreatitis10.1
39peritonitis10.1
40acute liver failure10.0
41burns10.0
42sudden infant death syndrome10.0
43hepatitis b10.0
44hypokalemic periodic paralysis10.0
45jansen's metaphyseal chondrodysplasia10.0
46renal tubular acidosis10.0
47asthma10.0
48autosomal dominant disease10.0
49diabetes mellitus10.0
50enthesopathy10.0

Graphical network of the top 20 diseases related to Hereditary Hypophosphatemic Rickets:



Diseases related to hereditary hypophosphatemic rickets

Clinical Features for Hereditary Hypophosphatemic Rickets

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Drugs & Therapeutics for Hereditary Hypophosphatemic Rickets

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Genetic Tests for Hereditary Hypophosphatemic Rickets

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Anatomical Context for Hereditary Hypophosphatemic Rickets

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32MalaCards
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MalaCards organs/tissues related to Hereditary Hypophosphatemic Rickets:

32
Bone

Animal Models for Hereditary Hypophosphatemic Rickets or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hereditary Hypophosphatemic Rickets:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.9SFRP4, GALNT3, FGF23, SLC34A3
2MP:00053678.3SLC34A1, FGF23, SLC34A3, GALNT3, SFRP4
3MP:00053908.0MEPE, DMP1, FGF23, SLC34A1, SLC34A3, GALNT3

Publications for Hereditary Hypophosphatemic Rickets

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Genetic Variations for Hereditary Hypophosphatemic Rickets

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Expression for genes affiliated with Hereditary Hypophosphatemic Rickets

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Hypophosphatemic Rickets

Search GEO for disease gene expression data for Hereditary Hypophosphatemic Rickets.

Pathways for genes affiliated with Hereditary Hypophosphatemic Rickets

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53Reactome, 29KEGG
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Pathways related to Hereditary Hypophosphatemic Rickets according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.9SLC34A3, SLC34A1
2
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9.9SLC34A3, SLC34A1
3
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9.2GALNT3, GALNT8

Compounds for genes affiliated with Hereditary Hypophosphatemic Rickets

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44Novoseek, 59Tocris Bioscience, 11DrugBank, 24HMDB, 49PharmGKB
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Compounds related to Hereditary Hypophosphatemic Rickets according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1hydroxyapatite449.8FGF23, DMP1
2phosphorus449.5SLC34A1, FGF23
325-hydroxyvitamin d449.5FGF23, SFRP4
4vitamin d449.0DMP1, MED4, FGF23, SLC34A1
5calcitriol44 59 11 2411.8SLC34A1, FGF23, MEPE, SFRP4
6calcium44 49 11 2410.4SFRP4, GALNT8, GALNT3, DMP1, FGF23, SLC34A1

GO Terms for genes affiliated with Hereditary Hypophosphatemic Rickets

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16Gene Ontology
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Biological processes related to Hereditary Hypophosphatemic Rickets according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1cellular phosphate ion homeostasisGO:0306439.9SLC34A3, FGF23
2phosphate ion transportGO:0068179.9SLC34A3, SLC34A1
3sodium ion transportGO:0068149.9SLC34A3, SLC34A1
4negative regulation of bone mineralizationGO:0305029.5MEPE, FGF23
5phosphate ion homeostasisGO:0550629.4SLC34A1, FGF23, SFRP4
6biomineral tissue developmentGO:0312149.4MEPE, DMP1
7O-glycan processingGO:0162668.9GALNT3, GALNT8

Molecular functions related to Hereditary Hypophosphatemic Rickets according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sodium-dependent phosphate transmembrane transporter activityGO:0153219.6SLC34A3, SLC34A1
2polypeptide N-acetylgalactosaminyltransferase activityGO:0046539.2GALNT3, GALNT8

Products for genes affiliated with Hereditary Hypophosphatemic Rickets

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Sources for Hereditary Hypophosphatemic Rickets

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet