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, Prostate, Breast, Myeloid, Heart, Brain, Bone marrow

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

Publications for Hypophosphatemia

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50PubMed
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Articles related to Hypophosphatemia:

(show top 50)    (show all 508)
idTitleAuthorsYear
1
Hepatectomy-Related Hypophosphatemia: A Novel Phosphaturic Factor in the Liver-Kidney Axis. (24262791)
2013
2
Oncogenic osteomalacia: loss of hypophosphatemia might be the key to avoid misdiagnosis. (23295300)
2012
3
Change of serum phosphate level and clinical outcome of hypophosphatemia in massive burn patient. (23117386)
2012
4
Kbus/Idr, a mutant mouse strain with skeletal abnormalities and hypophosphatemia: identification as an allele of 'Hyp'. (21854633)
2011
5
Hypophosphatemia related to paraneoplastic Cushing syndrome in prostate cancer: cure after bilateral adrenalectomy. (21910004)
2011
6
Increased bone volume and correction of HYP mouse hypophosphatemia in the Klotho/HYP mouse. (19952276)
2010
7
Pseudoaldosteronism with increased serum cortisol associated with pneumonia, hypouricemia, hypocalcemia, and hypophosphatemia. (20979951)
2010
8
Predisposing chronic diseases and hypophosphatemia in patients with influenza. (19640597)
2010
9
Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansen's metaphyseal chondrodysplasia. (18854401)
2009
10
Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia. (18172553)
2008
11
Persistent high level of fibroblast growth factor 23 as a cause of post-renal transplant hypophosphatemia. (17891358)
2007
12
Hypophosphatemia: clinical consequences and management. (17568018)
2007
13
Hypophosphatemia in living liver donors. (16549174)
2006
14
Dentinal defects in Hyp mice not caused by hypophosphatemia alone. (16005844)
2006
15
Prominent hypophosphatemia due to proximal tubulopathy mimicking Fanconi's syndrome in a patient with obstructive jaundice. (16629234)
2006
16
Hepatic resection-related hypophosphatemia is of renal origin as manifested by isolated hyperphosphaturia. (16495716)
2006
17
Hypophosphatemia following open heart surgery: incidence and consequences. (15296888)
2004
18
Hypophosphatemia after 95 right-lobe living-donor hepatectomies for liver transplantation is not a significant source of morbidity. (14557757)
2003
19
Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. (12890852)
2003
20
An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets. (12414538)
2002
21
Pathophysiologic and clinical correlates of hypophosphatemia and the relationship with sepsis and outcome in postoperative patients after hepatectomy. (12166771)
2002
22
Hypophosphatemia following self-treatment for anorexia nervosa. (12210668)
2002
23
X-linked hypophosphatemia in Polish patients. 2. Analysis of clinical features and genotype-phenotype correlation. (14564066)
2001
24
Hypophosphatemia secondary to oral refeeding in anorexia nervosa. (10897080)
2000
25
Mutational analysis of PHEX gene in X-linked hypophosphatemia. (9768674)
1998
26
Correction of hypercalcemia and hypophosphatemia by hemodialysis using a conventional, calcium-containing dialysis solution enriched with phosphorus. (9016904)
1997
27
Anorexia nervosa: refeeding and hypophosphatemia. (8863075)
1996
28
Nephrocalcinosis is associated with renal tubular acidosis in children with X-linked hypophosphatemia. (8545232)
1996
29
Thyrotoxic periodic paralysis associated with hypokalemia and hypophosphatemia. (8768924)
1996
30
Nephrocalcinosis in X-linked hypophosphatemia: effect of treatment versus disease. (7794712)
1995
31
Treatment of hypophosphatemia in patients receiving specialized nutrition support using a graduated dosing scheme: results from a prospective clinical trial. (7664552)
1995
32
Hypophosphatemia and phosphorus depletion in respiratory and peripheral muscles of patients with respiratory failure due to COPD. (8181325)
1994
33
Postpartum hemolytic uremic syndrome and secondary hypophosphatemia. (7955577)
1994
34
Ventricular tachycardia in acute myocardial infarction: the role of hypophosphatemia. (7506845)
1994
35
The effect of phosphate supplementation on linear growth in children with X-linked hypophosphatemia. (7936855)
1994
36
Rhabdomyolysis and hypophosphatemia. (8475942)
1993
37
X-Linked Hypophosphatemia (22319799)
1993
38
Intestinal malabsorption of 45calcium in young Gy mice, a second model for X-linked hypophosphatemia. (8266820)
1993
39
Hypocalcemia, but not PTH or hypophosphatemia, induces a rapid increase in 1,25(OH)2D3 levels in rats. (1539647)
1992
40
Severe hypophosphatemia in hospitalized patients. (2089250)
1990
41
Familial renal hypophosphatemia, minor facial anomalies, intracerebral calcifications, and non-rachitic bone changes: apparently new syndrome? (2309790)
1990
42
Hypophosphatemia in a pediatric patient after major hepatic resection. (2809996)
1989
43
Hypophosphatemia complicating bronchodilator therapy for acute severe asthma. (2802903)
1989
44
Hypophosphatemia in the nutritional recovery syndrome. (2773890)
1989
45
Severe hypophosphatemia in hospitalized patients. (3122679)
1988
46
Hypophosphatemia and acute respiratory failure in a diabetic patient. (3098815)
1986
47
X-linked hypophosphatemia (familial or sex-linked vitamin-D-resistant rickets). X-linked hypophosphatemic (Hyp) mice. (2982272)
1985
48
Treatment of hypophosphatemia. (4053651)
1985
49
Postural hypotension and labile blood pressure associated with severe hypophosphatemia. (6706445)
1984
50
Occurrence of hyperparathyroidism in children with X-linked hypophosphatemia under treatment with vitamin D and phsophate. (899930)
1977

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