MCID: HYP017
MIFTS: 53

Hypophosphatemia malady

Summaries for Hypophosphatemia

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63Wikipedia, 32MalaCards
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Wikipedia:63 Hypophosphatemia is an electrolyte disturbance in which there is an abnormally low level of phosphate in... more...

MalaCards: Hypophosphatemia is related to x-linked hypophosphatemia and rickets. An important gene associated with Hypophosphatemia is PHEX (phosphate regulating endopeptidase homolog, X-linked), and among its related pathways are Type II Na+/Pi cotransporters and Osteoblast Signaling. The drugs ergocalciferol and potassium phosphate and the compounds calcium carbonate and Calcidiol have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and kidney, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Aliases & Classifications for Hypophosphatemia

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS
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Aliases & Descriptions:

hypophosphatemia 8 10 44 60


External Ids:

Disease Ontology8 DOID:0050336

Related Diseases for Hypophosphatemia

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

(show top 50)    (show all 149)
idRelated DiseaseScoreTop Affiliating Genes
1x-linked hypophosphatemia31.2VDR, SFRP4, PHEX, DMP1, MEPE, DSPP
2rickets30.6CYP27B1, VDR, PTH, BGLAP
3osteomalacia30.5VDR, CYP27B1, FGF23, DMP1, EMP1, MEPE
4hypophosphatemic rickets, autosomal dominant30.2FGF23, MEPE, SFRP4, PHEX
5hyperparathyroidism30.2ALPPL2, VDR, PTH, FGF23, KL, BGLAP
6mccune albright syndrome30.2FGF23
7nephrocalcinosis30.2SLC34A3, PHEX, CLCN5, SLC34A1
8hypercalcemia30.2BGLAP, VDR, CYP27B1, FGF23, PTH, ALPPL2
9nephrolithiasis30.2VDR, EMP1, FGF23, SLC34A1, PTH, SLC34A3
10hyperphosphatemia30.2KL, SFRP4, VDR, FGF23, SLC34A1, PTH
11pancreatitis30.1ALPPL2
12metabolic acidosis30.1PTH, BGLAP
13prostatitis29.9VDR
14hypertension29.9PTH
15prostate cancer29.9BGLAP, ALPPL2, VDR, DSPP, SFRP4, CYP27B1
16diabetes mellitus29.9VDR, BGLAP, G6PC, CYP27B1, PTH, ALPPL2
17hypophosphatemic rickets with hypercalciuria29.7SLC34A3
18hyperphosphatemic familial tumoral calcinosis29.7KL, FGF23
19rickets, vitamin d-resistant, type iia29.7VDR, CYP27B1
20fibrous dysplasia29.7ALPPL2, BGLAP, FGF23
21primary hyperparathyroidism29.7BGLAP, CYP27B1, PTH, VDR, FGF23
22osteoporosis29.7KL, ALPPL2, PTH, BGLAP, MEPE, VDR
23hypophosphatasia29.7ALPPL2, DSPP
24hepatitis10.4
25anorexia nervosa10.3
26respiratory failure10.3
27hypokalemia10.2
28leukemia10.2
29diabetic ketoacidosis10.2
30acute leukemia10.1
31x-linked disease10.1
32panic disorder10.1
33hemolytic anemia10.1
34multiple myeloma10.1
35myeloma10.1
36peritonitis10.1
37hereditary hypophosphatemic rickets10.1
38paget's disease of bone10.0ALPPL2
39paraneoplastic syndromes10.0PHEX, FGF23
40hyperostosis10.0BGLAP, FGF23
41osteonecrosis10.0BGLAP, ALPPL2
42periodontal disease10.0ALPPL2
43vitamin d-dependent rickets type ii10.0VDR, CYP27B1
44tumoral calcinosis, hyperphosphatemic10.0KL, FGF23
45dentin dysplasia10.0DSPP, MEPE
46dentinogenesis imperfecta 110.0DSPP, DMP1
47osteosclerosis10.0ALPPL2, PTH
48hypervitaminosis d10.0CYP27B1, KL, FGF23
49hypoparathyroidism10.0BGLAP, FGF23, PTH
50addison's disease10.0CYP27B1

Graphical network of the top 20 diseases related to Hypophosphatemia:



Diseases related to hypophosphatemia

Clinical Features for Hypophosphatemia

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Drugs & Therapeutics for Hypophosphatemia

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

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Anatomical Context for Hypophosphatemia

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32MalaCards
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MalaCards organs/tissues related to Hypophosphatemia:

32
Bone, Liver, Kidney, Skeletal muscle, Myeloid, Breast, Heart, Prostate, Bone marrow, Brain

Animal Models for Hypophosphatemia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hypophosphatemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.0FGF23, CYP27B1, VDR, DMP1, PHEX, KL
2MP:00053829.8PTH, CLCN5, VDR, PHEX, DMP1, DSPP
3MP:00053899.8SLC34A1, FGF23, CYP27B1, VDR, SFRP4, KL
4MP:00053679.7SFRP4, G6PC, PHEX, VDR, KL, CYP27B1
5MP:00053789.7SFRP4, PTH, PHEX, G6PC, KL, CYP27B1
6MP:00053819.6SLC34A3, SFRP4, KL, PHEX, VDR, FGF23
7MP:00053909.6MEPE, FGF23, CLCN5, SLC34A1, SLC34A3, PTH
8MP:00053769.6KL, SLC34A3, SFRP4, G6PC, SLC34A1, CLCN5

Publications for Hypophosphatemia

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50PubMed
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Articles related to Hypophosphatemia:

(show top 50)    (show all 508)
idTitleAuthorsYear
1
Severe acute hypophosphatemia during renal replacement therapy adversely affects outcome of critically ill patients with acute kidney injury. (22227698)
2013
2
High bone mineral apparent density in children with X-linked hypophosphatemia. (23389694)
2013
3
Iron and fibroblast growth factor 23 in X-linked hypophosphatemia. (24325979)
2013
4
MEPE-derived ASARM peptide inhibits odontogenic differentiation of dental pulp stem cells and impairs mineralization in tooth models of X-linked hypophosphatemia. (23451077)
2013
5
Short communication: Interferon/ribavirin treatment for HCV is associated with the development of hypophosphatemia in HIV/hepatitis C virus-coinfected patients. (23701022)
2013
6
Hyperphosphatemia during spontaneous tumor lysis syndrome culminate in severe hypophosphatemia at the time of blast crisis of Phneg CML to acute myelomoncytic leukemia. (23211092)
2012
7
Sorafenib-induced diarrhea and hypophosphatemia: mechanisms and therapeutic implications. (22056851)
2012
8
Evaluation of hypophosphatemia: lessons from patients with genetic disorders. (22075221)
2012
9
Treatment of hypophosphatemia in the intensive care unit: a review. (20682049)
2010
10
Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia. (19796717)
2010
11
Post-renal transplantation hypophosphatemia. (19603188)
2010
12
Metformin induced severe hypophosphatemia in a patient on hemodialysis. (20814133)
2010
13
Does aggressive refeeding in hospitalized adolescents with anorexia nervosa result in increased hypophosphatemia? (20472215)
2010
14
Hypophosphatemia as unusual cause of ARDS in Cushing's syndrome secondary to ectopic CRH production. A case report. (18264630)
2008
15
Estrogen downregulates the proximal tubule type IIa sodium phosphate cotransporter causing phosphate wasting and hypophosphatemia. (18305465)
2008
16
Acquired hypophosphatemia osteomalacia associated with Fanconi's syndrome in SjAPgren's syndrome. (17094001)
2007
17
Hypophosphatemia associated with paraproteinemia: a case report and review of the literature. (18237074)
2007
18
Tertiary 'hyperphosphatoninism' accentuates hypophosphatemia and suppresses calcitriol levels in renal transplant recipients. (17359508)
2007
19
Post-transplant hypophosphatemia: Tertiary 'Hyper-Phosphatoninism'? (16941023)
2006
20
Hypophosphatemia and metabolic acidosis. (15834352)
2005
21
Hereditary hypophosphatemia in adults]. (16374396)
2005
22
Hypophosphatemia and calcium nephrolithiasis. (15499207)
2004
23
New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice. (15029877)
2004
24
The genomic response of the mouse kidney to low-phosphate diet is altered in X-linked hypophosphatemia. (15054142)
2004
25
Homozygous ablation of fibroblast growth factor-23 results in hyperphosphatemia and impaired skeletogenesis, and reverses hypophosphatemia in Phex-deficient mice. (15579309)
2004
26
Monoclonal gammopathy and spurious hypophosphatemia. (12589234)
2003
27
Mutant FGF-23 responsible for autosomal dominant hypophosphatemic rickets is resistant to proteolytic cleavage and causes hypophosphatemia in vivo. (12130585)
2002
28
Refeeding hypophosphatemia in a chronically hyperphosphatemic hemodialysis patient. (11124629)
2000
29
PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia. (10874297)
2000
30
The clinical implications of hypophosphatemia following major hepatic resection or cryosurgery. (9688005)
1998
31
X-linked hypophosphatemia: molecular biology and treatment controversies. (8042500)
1994
32
The effects of hypocalcemia/hypophosphatemia on porcine bone and dental hard tissues in an inherited form of type 1 pseudo-vitamin D deficiency rickets. (1556293)
1992
33
Prevalence & pathogenesis of hypophosphatemia in ventilated patients. (1428070)
1992
34
Hypophosphatemia and renal tubular dysfunction in alcoholics. Are they related to liver function impairment? (1670633)
1991
35
X-linked hypophosphatemia. Genetic and clinical correlates. (1858722)
1991
36
Treatment of severe hypophosphatemia with intraperitoneal phosphate. (2096934)
1990
37
Hypophosphatemia in patients with essential arterial hypertension. (2136290)
1990
38
Escherichia coli sepsis and prolonged hypophosphatemia following exertional heat stroke. (2196524)
1990
39
Potential role of acute hypophosphatemia during hypokalemic periodic paralysis attack. (2233417)
1990
40
Generation of hypophosphatemia in rats by continuous oral administration of cadmium. (3201471)
1988
41
Parathyroid hormone and hypophosphatemia. (2831767)
1988
42
Hypophosphatemia and respiratory failure: prolonged abnormal energy metabolism demonstrated by nuclear magnetic resonance spectroscopy. (3503582)
1987
43
Severe hypophosphatemia associated with diabetes mellitus in six dogs and one cat. (3570950)
1987
44
More on hypophosphatemia. (3945284)
1986
45
Hypophosphatemia. (6745085)
1984
46
Hypophosphatemia as a cause of failed weaning: the importance of metabolic factors. (6697732)
1984
47
Phosphorus administration in patients with profound hypophosphatemia. (6330423)
1984
48
High-dose intravenous phosphorus therapy for severe complicated hypophosphatemia. (6635736)
1983
49
Treatment of refractory hypophosphatemia. (7089633)
1982
50
Renal adaptation to phosphate deprivation in the Hyp mouse with X-linked hypophosphatemia. (476527)
1979

Genetic Variations for Hypophosphatemia

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Expression for genes affiliated with Hypophosphatemia

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

Search GEO for disease gene expression data for Hypophosphatemia.

Pathways for genes affiliated with Hypophosphatemia

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53Reactome, 37NCBI BioSystems Database, 12EMD Millipore
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Pathways related to Hypophosphatemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.3SLC34A3, SLC34A1
210.3PTH, FGF23
3
Hide members
10.3FGF23, KL
4
Vitamin D2 (ergocalciferol) metabolism
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10.2PTH, CYP27B1, VDR
5
Development Hedgehog and PTH signaling pathways in bone and cartilage development
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10.2BGLAP, VDR, PTH
6
Transcription Role of VDR in regulation of genes involved in osteoporosis
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10.1PTH, CYP27B1, VDR, BGLAP

Compounds for genes affiliated with Hypophosphatemia

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44Novoseek, 11DrugBank, 24HMDB, 59Tocris Bioscience, 28IUPHAR, 49PharmGKB
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Compounds related to Hypophosphatemia according to GeneCards/GeneDecks:

(show all 41)
idCompoundScoreTop Affiliating Genes
1calcium carbonate4410.7PTH, BGLAP
2Calcidiol11 2411.7VDR, CYP27B1
324(r),25-dihydroxyvitamin d34410.7BGLAP, VDR
4calcifediol5910.6VDR, CYP27B1
5doxercalciferol4410.6VDR, PTH
61,25(oh)2-16-ene-23-yne-d34410.6BGLAP, VDR
7gemini4410.6VDR, CYP27B1
8sevelamer4410.6BGLAP, FGF23
9paricalcitol44 1111.6VDR, CYP27B1, PTH
10alfacalcidol44 59 1112.6BGLAP, VDR, CYP27B1
11Ergocalciferol11 2411.6VDR, CYP27B1
1224,25-dihydroxyvitamin d34410.6BGLAP, VDR, CYP27B1
13kh 10604410.6VDR, BGLAP
14calcipotriol44 59 28 1113.6CYP27B1, VDR, BGLAP
15eb 108944 5911.6CYP27B1, VDR, BGLAP
16deoxypyridinoline4410.6BGLAP, VDR, PTH
1722-oxacalcitriol4410.5BGLAP, VDR
18dmsa4410.5AMBP, VDR
19alendronate44 49 1112.5BGLAP, DSPP, VDR, PTH
20hanp4410.5VDR, AMBP
21tartrate4410.4BGLAP, DSPP
22hydroxyapatite4410.4BGLAP, AMBP, DMP1, DSPP, FGF23
23sodium fluoride4410.4DSPP, BGLAP
24guanidine hydrochloride4410.4DSPP, AMBP, BGLAP
25pamidronate44 49 1112.3BGLAP, PTH
2625-hydroxyvitamin d4410.3BGLAP, SFRP4, VDR, CYP27B1, FGF23, PTH
27lead4410.3CYP27B1, G6PC, AMBP
28phosphorus4410.3BGLAP, PHEX, VDR, CYP27B1, FGF23, SLC34A1
291,25 dihydroxy vitamin d34410.3BGLAP, PHEX, VDR, CYP27B1, FGF23, SLC34A1
30sodium44 2411.3PTH, SLC34A1, PHEX, SFRP4, AMBP
31creatinine4410.3BGLAP, AMBP, VDR, FGF23, CLCN5, PTH
32polyglycolic acid4410.3BGLAP, DSPP
33aspartate4410.3BGLAP, AMBP, G6PC, PHEX, DSPP, VDR
34arginine4410.2BGLAP, G6PC, DSPP, VDR, FGF23, PTH
35vitamin d4410.1BGLAP, PHEX, DMP1, DSPP, VDR, CYP27B1
36alanine4410.1BGLAP, AMBP, G6PC, DSPP, EMP1, VDR
37clodronate44 49 1112.1VDR
38paraffin4410.1ALPPL2, CYP27B1, DSPP, BGLAP
39calcitriol44 59 11 2413.0PTH, BGLAP, SFRP4, PHEX, MEPE, DSPP
40dexamethasone44 49 28 1112.9BGLAP, G6PC, DSPP, VDR, PTH
41calcium44 49 11 2412.4PHEX, GALNT8, G6PC, SFRP4, AMBP, BGLAP

GO Terms for genes affiliated with Hypophosphatemia

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16Gene Ontology
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Cellular components related to Hypophosphatemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056159.9PTH, FGF23, SFRP4, AMBP, BGLAP, KL

Biological processes related to Hypophosphatemia according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1vitamin D catabolic processGO:04236910.5FGF23, CYP27B1
2positive regulation of vitamin D 24-hydroxylase activityGO:01098010.5FGF23, CYP27B1, VDR
3positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:09008010.5KL, FGF23
4cellular phosphate ion homeostasisGO:03064310.5FGF23, SLC34A3
5phosphate ion homeostasisGO:05506210.5SFRP4, FGF23, SLC34A1
6phosphate ion transportGO:00681710.5SLC34A3, SLC34A1
7decidualizationGO:04669710.5CYP27B1, VDR, SFRP4
8bone mineralizationGO:03028210.4BGLAP, PHEX, CYP27B1
9biomineral tissue developmentGO:03121410.4DSPP, MEPE, DMP1
10positive regulation of keratinocyte differentiationGO:04561810.4VDR, CYP27B1
11response to vitamin DGO:03328010.3CYP27B1, BGLAP
12negative regulation of bone mineralizationGO:03050210.3MEPE, FGF23
13negative regulation of JNK cascadeGO:04632910.2SFRP4, AMBP
14skeletal system developmentGO:00150110.2PTH, BGLAP, PHEX, MEPE, DSPP, VDR
15regulation of bone mineralizationGO:03050010.2BGLAP, CYP27B1
16calcium ion homeostasisGO:05507410.0CYP27B1, KL

Molecular functions related to Hypophosphatemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sodium-dependent phosphate transmembrane transporter activityGO:01532110.3SLC34A3, SLC34A1

Products for genes affiliated with Hypophosphatemia

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Sources for Hypophosphatemia

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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