VDRR
MCID: HRD086
MIFTS: 41

Hereditary Hypophosphatemic Rickets (VDRR) malady

Genetic diseases, Bone diseases, Nephrological diseases, Endocrine diseases, Fetal diseases, Rare diseases categories

Summaries for Hereditary Hypophosphatemic Rickets

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22Genetics Home Reference, 34MalaCards
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Genetics Home Reference:22 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 hypophosphatemic rickets with hypercalciuria. 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 is Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs ergocalciferol and potassium phosphate and the compounds phosphorus and 1,25 dihydroxy vitamin d3 have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are renal/urinary system and homeostasis/metabolism.

Aliases & Classifications for Hereditary Hypophosphatemic Rickets

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22Genetics Home Reference, 63UMLS
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Classifications:



Aliases & Descriptions:

hereditary hypophosphatemic rickets 22
vitamin d-resistant rickets 22 63
hypophosphatemia 22 63
familial hypophosphatemic bone disease 63
vdrr 22


Related Diseases for Hereditary Hypophosphatemic Rickets

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18GeneCards, 19GeneDecks
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Diseases in the Hypophosphatemic Rickets, Ar family:

hereditary hypophosphatemic rickets

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

(show top 50)    (show all 130)
idRelated DiseaseScoreTop Affiliating Genes
1hypophosphatemia31.7SLC34A3, SLC34A1, FGF23
2hypophosphatemic rickets with hypercalciuria31.5SLC34A3
3rickets31.4SLC34A3, FGF23
4x-linked hypophosphatemia31.2SLC34A1, FGF23, SLC34A3
5osteomalacia30.3SLC34A3, FGF23
6nephrocalcinosis30.3SLC34A1, SLC34A3
7nephrolithiasis30.3FGF23, SLC34A1, SLC34A3
8hyperphosphatemia30.2SLC34A1, FGF23
9osteoporosis29.9FGF23
10hereditary hypophosphatemic rickets with hypercalciuria10.9
11epidermal nevus vitamin d resistant rickets10.5
12hepatitis10.5
13diabetes insipidus10.4
14nephrogenic diabetes insipidus10.4
15anorexia nervosa10.4
16congenital ichthyosiform erythroderma10.3
17osteoblastoma10.3
18lipoatrophic diabetes10.3
19alopecia10.3
20hemangioma10.3
21hyperthyroidism10.3
22precocious puberty10.3
23spitz nevus10.3
24phakomatosis pigmentokeratotica10.3
25respiratory failure10.3
26hypokalemia10.3
27leukemia10.3
28oncogenic osteomalacia10.3
29sepsis10.3
30diabetic ketoacidosis10.2
31hyperparathyroidism10.2
32hypophosphatemic rickets, autosomal dominant10.2
33mccune albright syndrome10.2
34hypercalcemia10.2
35panic disorder10.1
36metabolic acidosis10.1
37hemolytic anemia10.1
38multiple myeloma10.1
39myeloma10.1
40pancreatitis10.1
41peritonitis10.1
42thyrotoxic periodic paralysis10.1
43head injury10.1
44rickets, vitamin d-resistant, type iia10.1
45acute liver failure10.0
46burns10.0
47hepatitis b10.0
48sudden infant death syndrome10.0
49renal tubular acidosis10.0
50jansen's metaphyseal chondrodysplasia10.0

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



Diseases related to hereditary hypophosphatemic rickets

Symptoms for Hereditary Hypophosphatemic Rickets

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Drugs & Therapeutics for Hereditary Hypophosphatemic Rickets

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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34MalaCards
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MalaCards organs/tissues related to Hereditary Hypophosphatemic Rickets:

34
Bone

Animal Models for Hereditary Hypophosphatemic Rickets or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Hereditary Hypophosphatemic Rickets:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5FGF23, SLC34A1, SLC34A3
2MP:00053768.5FGF23, SLC34A1, SLC34A3
3MP:00053908.4FGF23, SLC34A1, SLC34A3
4MP:00053788.2SLC34A3, SLC34A1, FGF23

Publications for Hereditary Hypophosphatemic Rickets

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53PubMed
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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

Variations for Hereditary Hypophosphatemic Rickets

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Expression for genes affiliated with Hereditary Hypophosphatemic Rickets

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Hypophosphatemic Rickets

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Pathways for genes affiliated with Hereditary Hypophosphatemic Rickets

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51PathCards, 56Reactome
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Compounds for genes affiliated with Hereditary Hypophosphatemic Rickets

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46Novoseek, 62Tocris Bioscience, 25HMDB, 12DrugBank, 52PharmGKB
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Compounds related to Hereditary Hypophosphatemic Rickets according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phosphorus469.2FGF23, SLC34A1
21,25 dihydroxy vitamin d3469.1FGF23, SLC34A1
3calcitriol46 62 25 1212.0SLC34A1, FGF23
4vitamin d468.8FGF23, SLC34A1
5calcium46 52 25 1211.5FGF23, SLC34A1, SLC34A3

GO Terms for genes affiliated with Hereditary Hypophosphatemic Rickets

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17Gene Ontology
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Cellular components related to Hereditary Hypophosphatemic Rickets according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1apical plasma membraneGO:0163249.0SLC34A1, SLC34A3

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

idNameGO IDScoreTop Affiliating Genes
1cellular phosphate ion homeostasisGO:0306439.4FGF23, SLC34A3
2phosphate ion homeostasisGO:0550629.2FGF23, SLC34A1
3phosphate ion transportGO:0068179.0SLC34A1, SLC34A3
4transmembrane transportGO:0550859.0SLC34A1, SLC34A3
5sodium ion transportGO:0068148.9SLC34A3, SLC34A1
6ion transportGO:0068118.7SLC34A1, SLC34A3

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

idNameGO IDScoreTop Affiliating Genes
1sodium-dependent phosphate transmembrane transporter activityGO:0153219.0SLC34A1, SLC34A3

Products for genes affiliated with Hereditary Hypophosphatemic Rickets

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Sources for Hereditary Hypophosphatemic Rickets

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
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49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
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