MCID: HRD086
MIFTS: 39

Hereditary Hypophosphatemic Rickets malady

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

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 60
Hypophosphatemia 21 60
Hypophosphatemic Rickets, X-Linked Dominant 60
 
Vitamin D-Resistant Rickets, Hereditary 60
Familial Hypophosphatemic Rickets 60
Vdrr 21


Classifications:



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.

Related Diseases for Hereditary Hypophosphatemic Rickets

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Diseases in the Hypophosphatemic Rickets family:

Hypophosphatemic Rickets, Autosomal Recessive, 2 Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic Rickets, Ar hereditary hypophosphatemic rickets
Autosomal Recessive Hypophosphatemic Rickets

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

(show top 50)    (show all 138)
idRelated DiseaseScoreTop Affiliating Genes
1hypophosphatemic rickets with hypercalciuria31.8SLC34A3
2rickets31.4SLC34A3, FGF23
3hypophosphatemia31.4SLC34A3, SLC34A1, FGF23
4osteomalacia30.2SLC34A3, FGF23
5osteoporosis30.2FGF23
6hypophosphatemic rickets, x-linked dominant30.1SLC34A1, FGF23, SLC34A3
7nephrocalcinosis30.1SLC34A1, SLC34A3
8hyperphosphatemia30.1SLC34A1, FGF23
9nephrolithiasis29.7FGF23, SLC34A1, SLC34A3
10hypophosphatemic rickets11.0
11epidermal nevus vitamin d resistant rickets10.6
12diabetes insipidus10.6
13alopecia10.5
14hepatitis10.5
15anorexia nervosa10.4
16respiratory failure10.3
17hemangioma10.3
18congenital ichthyosiform erythroderma10.3
19osteoblastoma10.3
20basal ganglia calcification10.3
21hyperthyroidism10.3
22periodontal disease10.3
23precocious puberty10.3
24spitz nevus10.3
25phakomatosis pigmentokeratotica10.3
26leukemia10.3
27hypokalemia10.3
28oncogenic osteomalacia10.3
29hypophosphatemic rickets, autosomal dominant10.2
30diabetic ketoacidosis10.2
31hypercalcemia10.2
32hyperparathyroidism10.2
33cutaneous-skeletal hypophosphatemia syndrome10.2
34prostate cancer10.1
35panic disorder10.1
36multiple myeloma10.1
37rickets, vitamin d-resistant, type iia10.1
38vitamin d-dependent rickets, type i10.1
39acute liver failure10.1
40burns10.1
41hemolytic anemia10.1
42metabolic acidosis10.1
43myeloma10.1
44pancreatitis10.1
45peritonitis10.1
46prostatitis10.1
47thyrotoxic periodic paralysis10.1
48head injury10.1
49dominant hypophosphatemia with nephrolithiasis or osteoporosis10.1
50asthma10.0

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:

31
Bone

Animal Models for Hereditary Hypophosphatemic Rickets or affiliated genes

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MGI Mouse Phenotypes related to Hereditary Hypophosphatemic Rickets:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5SLC34A3, SLC34A1, FGF23
2MP:00053768.5SLC34A1, SLC34A3, FGF23
3MP:00053908.4FGF23, SLC34A3, SLC34A1
4MP:00053788.2SLC34A1, SLC34A3, 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
Therapeutic use of oral sodium phosphate (phosribbon(Ar) combination granules) in hereditary hypophosphatemic rickets. (24532956)
2014
3
Intronic deletions in the SLC34A3 gene: A cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria. (24176905)
2014
4
Bilateral pseudarthrosis of the femoral neck in a 25-year-old male with hereditary hypophosphatemic rickets. (24955267)
2014
5
SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria. (22672866)
2012
6
Hereditary hypophosphatemic rickets with hypercalciuria: case report. (22806288)
2012
7
Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria. (22159077)
2012
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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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 Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1phosphorus439.2SLC34A1, FGF23
21,25 dihydroxy vitamin d3439.1SLC34A1, FGF23
3calcitriol43 59 24 1212.0FGF23, SLC34A1
4vitamin d438.8SLC34A1, FGF23
5calcium43 49 24 1211.5SLC34A3, SLC34A1, FGF23

GO Terms for genes affiliated with Hereditary Hypophosphatemic Rickets

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Cellular components related to Hereditary Hypophosphatemic Rickets according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1apical plasma membraneGO:00163249.0SLC34A1, SLC34A3

Biological processes related to Hereditary Hypophosphatemic Rickets according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cellular phosphate ion homeostasisGO:00306439.4FGF23, SLC34A3
2phosphate ion homeostasisGO:00550629.2SLC34A1, FGF23
3phosphate ion transportGO:00068179.0SLC34A1, SLC34A3
4transmembrane transportGO:00550859.0SLC34A1, SLC34A3
5sodium ion transportGO:00068148.9SLC34A1, SLC34A3
6ion transportGO:00068118.7SLC34A1, SLC34A3

Molecular functions related to Hereditary Hypophosphatemic Rickets according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sodium-dependent phosphate transmembrane transporter activityGO:00153219.0SLC34A1, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet