MCID: HYP017
MIFTS: 49

Hypophosphatemia malady

Metabolic diseases category
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Summaries for Hypophosphatemia

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Wikipedia:65 Hypophosphatemia is an electrolyte disturbance in which there is an abnormally low level of phosphate in... more...

MalaCards based summary: Hypophosphatemia is related to rickets and hypophosphatemic rickets, autosomal dominant. An important gene associated with Hypophosphatemia is PHEX (phosphate regulating endopeptidase homolog, X-linked), and among its related pathways are Osteoblast Signaling and Transcription Role of VDR in regulation of genes involved in osteoporosis. The drugs ergocalciferol and potassium phosphate and the compounds hydroxyapatite and paricalcitol have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and kidney, and related mouse phenotypes are hematopoietic system and renal/urinary system.

Aliases & Classifications for Hypophosphatemia

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Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 62UMLS
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Hypophosphatemia, Aliases & Descriptions:

Name: Hypophosphatemia 8 10 44 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


External Ids:

Disease Ontology8 DOID:0050336

Related Diseases for Hypophosphatemia

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

(show top 50)    (show all 130)
idRelated DiseaseScoreTop Affiliating Genes
1rickets30.7PTH, CYP27B1
2hypophosphatemic rickets, autosomal dominant30.7FGF23, PHEX
3x-linked hypophosphatemia30.4DMP1, CYP27B1, PHEX, SLC34A1, FGF23, SLC34A3
4hypophosphatemic rickets with hypercalciuria30.3SLC34A3
5nephrocalcinosis30.3PHEX, SLC34A3, SLC34A1
6hyperphosphatemia30.1SLC34A1, PTH, FGF23
7hypercalcemia30.1FGF23, PTH, CYP27B1
8hyperparathyroidism29.8FGF23, PTH, CYP27B1, PHEX
9nephrolithiasis29.7SLC34A3, PTH, FGF23, SLC34A1
10osteoporosis29.6PTH, CYP27B1, FGF23
11osteomalacia29.4FGF23, SLC34A3, DMP1, CYP27B1, PTH, PHEX
12hepatitis10.5
13anorexia nervosa10.4
14respiratory failure10.3
15sepsis10.3
16leukemia10.3
17hypokalemia10.3
18oncogenic osteomalacia10.3
19diabetic ketoacidosis10.2
20paraneoplastic syndromes10.2FGF23, PHEX
21hypervitaminosis d10.2FGF23, CYP27B1
22mccune albright syndrome10.2
23hemolytic anemia10.1
24multiple myeloma10.1
25prostate cancer10.1
26panic disorder10.1
27metabolic acidosis10.1
28myeloma10.1
29pancreatitis10.1
30peritonitis10.1
31prostatitis10.1
32thyrotoxic periodic paralysis10.1
33head injury10.1
34acute liver failure10.0
35asthma10.0
36burns10.0
37chronic obstructive pulmonary disease10.0
38diabetes mellitus10.0
39hepatitis b10.0
40hypertension10.0
41myocardial infarction10.0
42renal tubular acidosis10.0
43hypokalemic periodic paralysis10.0
44sudden infant death syndrome10.0
45enthesopathy10.0
46myeloid leukemia10.0
47pneumonia10.0
48panostotic fibrous dysplasia10.0
49vitamin d-dependent rickets type i10.0
50hereditary hypophosphatemic rickets10.0

Graphical network of the top 20 diseases related to Hypophosphatemia:



Diseases related to hypophosphatemia

Symptoms for Hypophosphatemia

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Drugs & Therapeutics for Hypophosphatemia

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Genetic Tests for Hypophosphatemia

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Anatomical Context for Hypophosphatemia

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MalaCards organs/tissues related to Hypophosphatemia:

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

Animal Models for Hypophosphatemia or affiliated genes

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MGI Mouse Phenotypes related to Hypophosphatemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.3FGF23, PHEX, PTH, CYP27B1
2MP:00053678.1CYP27B1, PHEX, SLC34A3, SLC34A1, FGF23
3MP:00053717.9DMP1, CYP27B1, PTH, PHEX, FGF23
4MP:00053787.2CYP27B1, PTH, PHEX, SLC34A3, SLC34A1, FGF23
5MP:00053767.0CYP27B1, PTH, PHEX, SLC34A3, SLC34A1, FGF23
6MP:00053906.9FGF23, SLC34A1, SLC34A3, PHEX, PTH, CYP27B1

Publications for Hypophosphatemia

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Articles related to Hypophosphatemia:

(show top 50)    (show all 514)
idTitleAuthorsYear
1
Prolonged disturbance of consciousness caused by severe hypophosphatemia: a report of two cases. (25274235)
2014
2
Frequency and long-term outcomes of post-transplant hypophosphatemia after kidney transplantation. (23937423)
2013
3
Severe acute hypophosphatemia during renal replacement therapy adversely affects outcome of critically ill patients with acute kidney injury. (22227698)
2013
4
Calcitonin administration in X-linked hypophosphatemia. (21524226)
2011
5
High iFGF23 level despite hypophosphatemia is one of the clinical indicators to make diagnosis of XLH. (21597229)
2011
6
Hypophosphatemia-induced seizure in a child with diabetic ketoacidosis. (20016359)
2009
7
Is this the worst outcome of metabolic syndrome? Hypophosphatemia and resulting cardiac arrest during the treatment of diabetic ketoacidosis with hypertriglyceridemia. (19687585)
2009
8
Hypophosphatemia and neuroleptic malignant syndrome. (17502779)
2007
9
Post-transplant hypophosphatemia: Tertiary 'Hyper-Phosphatoninism'? (16941023)
2006
10
X-linked hypophosphatemia: dental and histologic findings. (16480608)
2006
11
Hypophosphatemia in living liver donors. (16549174)
2006
12
Hypophosphatemia and metabolic acidosis. (15834352)
2005
13
Extra pontine myelinolysis associated with hypophosphatemia. (16045098)
2005
14
Role of matrix extracellular phosphoglycoprotein in the pathogenesis of X-linked hypophosphatemia. (15843468)
2005
15
Hypophosphatemia and calcium nephrolithiasis. (15499207)
2004
16
Is hypotonic dysfunctional labor associated with hypophosphatemia? (15167865)
2004
17
Severe hypophosphatemia in a patient with anorexia nervosa during enteral refeeding. (15819381)
2004
18
Down-regulation of Na+ transporters and AQP2 is responsible for acyclovir-induced polyuria and hypophosphatemia. (14675048)
2004
19
Hypophosphatemia after 95 right-lobe living-donor hepatectomies for liver transplantation is not a significant source of morbidity. (14557757)
2003
20
Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. (12890852)
2003
21
Intravenous phosphate in the intensive care unit: more aggressive repletion regimens for moderate and severe hypophosphatemia. (12845429)
2003
22
An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets. (12414538)
2002
23
FGF23, hypophosphatemia, and rickets: has phosphatonin been found? (11371627)
2001
24
Hypophosphatemia in the emergency department therapeutics. (10919539)
2000
25
Management of hypophosphatemia induced by high-flux hemodiafiltration for the treatment of vancomycin toxicity: intravenous phosphorus therapy versus use of a phosphorus-enriched dialysate. (11096051)
2000
26
Hypomagnesemia and hypophosphatemia at admission in patients with severe head injury. (10890658)
2000
27
PHEX expression in parathyroid gland and parathyroid hormone dysregulation in X-linked hypophosphatemia. (10460513)
1999
28
The clinical implications of hypophosphatemia following major hepatic resection or cryosurgery. (9688005)
1998
29
The effect of recombinant human growth hormone in children with X-linked hypophosphatemia. (9346990)
1997
30
New insights into X-linked hypophosphatemia. (9051349)
1997
31
Anorexia nervosa: refeeding and hypophosphatemia. (8863075)
1996
32
Hemodynamic and metabolic effects of rapid correction of hypophosphatemia in patients with septic shock. (7781370)
1995
33
Osteomalacia with hypophosphatemia and hypercalciuria: a possible new variant of osteomalacia. (7608793)
1995
34
Delirium associated with hypophosphatemia in a patient with anorexia nervosa. (8018692)
1994
35
Enthesopathy as the presenting feature of X-linked hypophosphatemia. A case report. (8498190)
1993
36
Hypokalemia, hypophosphatemia, and compartment syndrome of the leg after downhill skiing on moguls. (8157908)
1993
37
Severe unexplained hypophosphatemia. (1733579)
1992
38
Hypocalcemia, but not PTH or hypophosphatemia, induces a rapid increase in 1,25(OH)2D3 levels in rats. (1539647)
1992
39
Chronic metabolic acidosis increases the serum concentration of 1,25-dihydroxyvitamin D in humans by stimulating its production rate. Critical role of acidosis-induced renal hypophosphatemia. (1469097)
1992
40
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
41
X-linked hypophosphatemia: an appreciation of a classic paper and a survey of progress since 1958. (1851532)
1991
42
Hypophosphatemia in course of chronic obstructive pulmonary disease. Prevalence, mechanisms, and relationships with skeletal muscle phosphorus content. (2108845)
1990
43
Does hypophosphatemia play a role in acute liver failure? (2921001)
1989
44
Hypophosphatemia in a pediatric patient after major hepatic resection. (2809996)
1989
45
Calcitonin stimulation of renal 25-hydroxyvitamin D-1 alpha-hydroxylase activity in hypophosphatemic mice. Evidence that the regulation of calcitriol production is not universally abnormal in X-linked hypophosphatemia. (3793922)
1987
46
Effect of hypophosphatemia on diaphragmatic contractility in patients with acute respiratory failure. (3860734)
1985
47
Hypophosphatemia during postoperative glucose infusion. (4090879)
1985
48
Erythrocyte sodium transport in acute hypophosphatemia in man. (6330513)
1984
49
Hypophosphatemia-induced hypercalcemia during acute renal failure. (6671351)
1983
50
Serum parathyroid hormone in X-linked hypophosphatemia. (5315247)
1971

Variations for Hypophosphatemia

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Expression for genes affiliated with Hypophosphatemia

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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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Pathways related to Hypophosphatemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2FGF23, PTH
29.1PTH, CYP27B1
39.1PTH, CYP27B1

Compounds for genes affiliated with Hypophosphatemia

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Compounds related to Hypophosphatemia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1hydroxyapatite449.5FGF23, DMP1
2paricalcitol44 1110.0PTH, CYP27B1
325-hydroxyvitamin d448.7CYP27B1, PTH, FGF23
4sodium44 249.5SLC34A1, PHEX, PTH
5phosphorus448.1FGF23, SLC34A1, PHEX, PTH, CYP27B1
61,25 dihydroxy vitamin d3448.0CYP27B1, PTH, PHEX, SLC34A1, FGF23
7calcitriol44 61 24 1111.0CYP27B1, PTH, PHEX, SLC34A1, FGF23
8vitamin d447.5DMP1, CYP27B1, PTH, PHEX, SLC34A1, FGF23
9calcium44 50 24 119.8DMP1, CYP27B1, PTH, PHEX, SLC34A3, SLC34A1

GO Terms for genes affiliated with Hypophosphatemia

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Biological processes related to Hypophosphatemia according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1phosphate ion homeostasisGO:0550629.9FGF23, SLC34A1
2positive regulation of vitamin D 24-hydroxylase activityGO:0109809.8FGF23, CYP27B1
3vitamin D catabolic processGO:0423699.8FGF23, CYP27B1
4cellular phosphate ion homeostasisGO:0306439.7SLC34A3, FGF23
5bone mineralizationGO:0302829.6PHEX, CYP27B1
6phosphate ion transportGO:0068179.6SLC34A1, SLC34A3
7sodium ion transportGO:0068149.4SLC34A3, SLC34A1
8ossificationGO:0015039.4SLC34A1, DMP1
9ion transportGO:0068119.4SLC34A1, SLC34A3
10response to lead ionGO:0102889.4SLC34A1, PTH
11response to cadmium ionGO:0466869.3SLC34A1, PTH
12response to vitamin DGO:0332809.3CYP27B1, PTH
13skeletal system developmentGO:0015019.0PHEX, PTH

Molecular functions related to Hypophosphatemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sodium-dependent phosphate transmembrane transporter activityGO:0153219.4SLC34A1, SLC34A3

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