VDRR
MCID: HRD086
MIFTS: 38

Hereditary Hypophosphatemic Rickets (VDRR) malady

Bone, Genetic categories

Summaries for Hereditary Hypophosphatemic Rickets

Sources:
21Genetics Home Reference, 33MalaCards
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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. Related mouse phenotypes are digestive/alimentary and renal/urinary system.

Aliases & Classifications for Hereditary Hypophosphatemic Rickets

Sources:
21Genetics Home Reference, 61UMLS
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Classifications:

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


Aliases & Descriptions:

hereditary hypophosphatemic rickets 21
vitamin d-resistant rickets 21 61
hypophosphatemia 21 61
familial hypophosphatemic bone disease 61
vdrr 21


Related Diseases for Hereditary Hypophosphatemic Rickets

Sources:
17GeneCards, 18GeneDecks
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Diseases in the Hereditary Hypophosphatemic Rickets family:

hereditary hypophosphatemic rickets with hypercalciuria

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

(show top 50)    (show all 115)
idRelated DiseaseScoreTop Affiliating Genes
1hypophosphatemia31.8SLC34A3, SLC34A1, FGF23, MEPE, DMP1, SFRP4
2rickets31.3SLC34A3, MEPE, DMP1, SFRP4, FGF23
3x-linked hypophosphatemia30.5SFRP4, DMP1, MEPE, FGF23, SLC34A1, SLC34A3
4hypophosphatemic rickets with hypercalciuria30.3SLC34A3
5nephrocalcinosis30.3SLC34A3, SLC34A1
6nephrolithiasis30.3FGF23, SLC34A3, SLC34A1
7hypophosphatemic rickets, autosomal dominant30.3MEPE, SFRP4, FGF23
8osteomalacia30.3SLC34A3, SFRP4, DMP1, MEPE, FGF23
9mccune albright syndrome30.2FGF23
10hyperphosphatemia30.2FGF23, GALNT3, SFRP4, SLC34A1
11hyperphosphatemic familial tumoral calcinosis29.7GALNT3, FGF23
12epidermal nevus vitamin d resistant rickets10.6
13diabetes insipidus10.4
14nephrogenic diabetes insipidus10.4
15hereditary hypophosphatemic rickets with hypercalciuria10.4
16anorexia nervosa10.4
17osteoblastoma10.3
18congenital ichthyosiform erythroderma10.3
19lipoatrophic diabetes10.3
20alopecia10.3
21precocious puberty10.3
22spitz nevus10.3
23phakomatosis pigmentokeratotica10.3
24sepsis10.3
25hypokalemia10.2
26oncogenic osteomalacia10.2
27hypophosphatemic rickets, ar10.2
28diabetic ketoacidosis10.2
29hypercalcemia10.2
30n syndrome10.2
31acute leukemia10.2
32panic disorder10.1
33fanconi syndrome10.1
34hepatitis d10.1
35metabolic acidosis10.1
36mccune–albright syndrome10.1
37thyrotoxic periodic paralysis10.1
38head injury10.1
39osteomalacia, tumor-induced10.1
40rickets, vitamin d-resistant, type iia10.0
41acute liver failure10.0
42hepatitis c10.0
43cushing's syndrome10.0
44sudden infant death syndrome10.0
45hypokalemic periodic paralysis10.0
46jansen's metaphyseal chondrodysplasia10.0
47renal tubular acidosis10.0
48hepatitis a10.0
49asthma10.0
50autosomal dominant disease10.0

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



Diseases related to hereditary hypophosphatemic rickets

Clinical Features for Hereditary Hypophosphatemic Rickets

Drugs & Therapeutics for Hereditary Hypophosphatemic Rickets

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Genetic Tests for Hereditary Hypophosphatemic Rickets

Anatomical Context for Hereditary Hypophosphatemic Rickets

Animal Models for Hereditary Hypophosphatemic Rickets or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Hereditary Hypophosphatemic Rickets:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.9SLC34A3, FGF23, GALNT3, SFRP4
2MP:00053678.3SFRP4, GALNT3, FGF23, SLC34A1, SLC34A3
3MP:00053908.0SLC34A3, SLC34A1, FGF23, MEPE, DMP1, GALNT3

Publications for Hereditary Hypophosphatemic Rickets

Sources:
51PubMed
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Articles related to Hereditary Hypophosphatemic Rickets:

(show all 21)
idTitleAuthorsYear
1
A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient. (24246249)
2014
2
Intronic deletions in the SLC34A3 gene: A cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria. (24176905)
2014
3
SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria. (22672866)
2012
4
Hereditary hypophosphatemic rickets with hypercalciuria: case report. (22806288)
2012
5
Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria. (22159077)
2012
6
Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation. (21344632)
2011
7
Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report. (20074341)
2010
8
Deformity correction in children with hereditary hypophosphatemic rickets. (18841431)
2008
9
A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc. (18480181)
2008
10
Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function. (17968493)
2007
11
Hereditary hypophosphatemic rickets with hypercalciuria. (16798045)
2006
12
Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria. (16849419)
2006
13
SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium- phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis. (16358214)
2006
14
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. (16358215)
2006
15
Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene. (11181798)
2001
16
Hereditary hypophosphatemic rickets with hypercalciuria: report of a new kindred. (11340356)
2001
17
Hyperoxaluria is not a cause of nephrocalcinosis in phosphate-treated patients with hereditary hypophosphatemic rickets. (8396209)
1993
18
A new kindred with hereditary hypophosphatemic rickets with hypercalciuria: implications for correct diagnosis and treatment. (1436310)
1992
19
Osteomalacia in hereditary hypophosphatemic rickets with hypercalciuria: a correlative clinical-histomorphometric study. (1986023)
1991
20
"Idiopathic" hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect. (3796683)
1987
21
Hereditary hypophosphatemic rickets with hypercalciuria. (2983203)
1985

Genetic Variations for Hereditary Hypophosphatemic Rickets

Expression for genes affiliated with Hereditary Hypophosphatemic Rickets

Sources:
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

Sources:
54Reactome, 30KEGG
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Pathways related to Hereditary Hypophosphatemic Rickets according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Hereditary Hypophosphatemic Rickets

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank, 24HMDB, 50PharmGKB
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Compounds related to Hereditary Hypophosphatemic Rickets according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1hydroxyapatite459.8FGF23, DMP1
2phosphorus459.5SLC34A1, FGF23
325-hydroxyvitamin d459.5FGF23, SFRP4
4vitamin d459.0DMP1, MED4, FGF23, SLC34A1
5calcitriol45 60 11 2411.8SLC34A1, FGF23, MEPE, SFRP4
6calcium45 50 11 2410.4SFRP4, GALNT8, GALNT3, DMP1, FGF23, SLC34A1

GO Terms for genes affiliated with Hereditary Hypophosphatemic Rickets

Sources:
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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet