VDRR
MCID: HRD086
MIFTS: 42

Hereditary Hypophosphatemic Rickets (VDRR) malady

Genetic diseases, Bone diseases, Nephrological diseases, Endocrine diseases, Fetal diseases, Rare diseases categories
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Summaries for Hereditary Hypophosphatemic Rickets

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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 based summary: Hereditary Hypophosphatemic Rickets, also known as vitamin d-resistant rickets, is related to hypophosphatemic rickets with hypercalciuria 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 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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Hereditary Hypophosphatemic Rickets, Aliases & Descriptions:

Name: Hereditary Hypophosphatemic Rickets 21
Vitamin D-Resistant Rickets 21 62
Familial Hypophosphatemic Bone Disease 62
 
Hypophosphataemia 62
Hypophosphatemia 21
Vdrr 21


Classifications:



Related Diseases for Hereditary Hypophosphatemic Rickets

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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
1hypophosphatemic rickets with hypercalciuria31.8SLC34A3
2rickets31.5SLC34A3, FGF23
3hypophosphatemia31.4SLC34A3, SLC34A1, FGF23
4x-linked hypophosphatemia30.9FGF23, SLC34A1, SLC34A3
5osteoporosis30.2FGF23
6osteomalacia30.2FGF23, SLC34A3
7nephrocalcinosis30.1SLC34A3, SLC34A1
8hyperphosphatemia30.1FGF23, SLC34A1
9nephrolithiasis29.9FGF23, SLC34A1, SLC34A3
10hereditary hypophosphatemic rickets with hypercalciuria10.9
11diabetes insipidus10.6
12nephrogenic diabetes insipidus10.6
13epidermal nevus vitamin d resistant rickets10.6
14hepatitis10.5
15anorexia nervosa10.4
16respiratory failure10.3
17sepsis10.3
18alopecia10.3
19hemangioma10.3
20congenital ichthyosiform erythroderma10.3
21lipoatrophic diabetes10.3
22osteoblastoma10.3
23hyperthyroidism10.3
24chondrodysplasia10.3
25spitz nevus10.3
26phakomatosis pigmentokeratotica10.3
27leukemia10.3
28hypokalemia10.3
29oncogenic osteomalacia10.3
30diabetic ketoacidosis10.2
31hypercalcemia10.2
32hypophosphatemic rickets, autosomal dominant10.2
33mccune albright syndrome10.2
34hyperparathyroidism10.2
35hemolytic anemia10.1
36multiple myeloma10.1
37prostate cancer10.1
38panic disorder10.1
39metabolic acidosis10.1
40myeloma10.1
41pancreatitis10.1
42peritonitis10.1
43prostatitis10.1
44thyrotoxic periodic paralysis10.1
45head injury10.1
46acute liver failure10.0
47asthma10.0
48burns10.0
49chronic obstructive pulmonary disease10.0
50diabetes mellitus10.0

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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Genetic Tests for Hereditary Hypophosphatemic Rickets

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Anatomical Context for Hereditary Hypophosphatemic Rickets

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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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MGI Mouse Phenotypes related to Hereditary Hypophosphatemic Rickets:

36
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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Articles related to Hereditary Hypophosphatemic Rickets:

(show all 22)
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
Bilateral pseudarthrosis of the femoral neck in a 25-year-old male with hereditary hypophosphatemic rickets. (24955267)
2014
4
SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria. (22672866)
2012
5
Hereditary hypophosphatemic rickets with hypercalciuria: case report. (22806288)
2012
6
Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria. (22159077)
2012
7
Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation. (21344632)
2011
8
Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report. (20074341)
2010
9
Deformity correction in children with hereditary hypophosphatemic rickets. (18841431)
2008
10
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
11
Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function. (17968493)
2007
12
Hereditary hypophosphatemic rickets with hypercalciuria. (16798045)
2006
13
Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria. (16849419)
2006
14
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
15
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. (16358215)
2006
16
Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene. (11181798)
2001
17
Hereditary hypophosphatemic rickets with hypercalciuria: report of a new kindred. (11340356)
2001
18
Hyperoxaluria is not a cause of nephrocalcinosis in phosphate-treated patients with hereditary hypophosphatemic rickets. (8396209)
1993
19
A new kindred with hereditary hypophosphatemic rickets with hypercalciuria: implications for correct diagnosis and treatment. (1436310)
1992
20
Osteomalacia in hereditary hypophosphatemic rickets with hypercalciuria: a correlative clinical-histomorphometric study. (1986023)
1991
21
"Idiopathic" hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect. (3796683)
1987
22
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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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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Compounds for genes affiliated with Hereditary Hypophosphatemic Rickets

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Compounds related to Hereditary Hypophosphatemic Rickets according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phosphorus449.2FGF23, SLC34A1
21,25 dihydroxy vitamin d3449.1FGF23, SLC34A1
3calcitriol44 61 24 1112.0SLC34A1, FGF23
4vitamin d448.8FGF23, SLC34A1
5calcium44 50 24 1111.5FGF23, SLC34A1, SLC34A3

GO Terms for genes affiliated with Hereditary Hypophosphatemic Rickets

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet