MCID: HYP017
MIFTS: 52

Hypophosphatemia malady

Summaries for Hypophosphatemia

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64Wikipedia, 33MalaCards
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Wikipedia:64 Hypophosphatemia is an electrolyte disturbance in which there is an abnormally low level of phosphate in... more...

MalaCards: Hypophosphatemia is related to rickets and x-linked hypophosphatemia. 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 liver, brain and kidney, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Aliases & Classifications for Hypophosphatemia

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS
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Aliases & Descriptions:

hypophosphatemia 8 10 45 61


External Ids:

Disease Ontology8 DOID:0050336

Related Diseases for Hypophosphatemia

Sources:
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 145)
idRelated DiseaseScoreTop Affiliating Genes
1rickets30.7BGLAP, VDR, CYP27B1, PTH
2x-linked hypophosphatemia30.5VDR, EMP1, MEPE, DMP1, PHEX, GALNT8
3osteomalacia30.5VDR, EMP1, MEPE, DMP1, PHEX, SFRP4
4hypophosphatemic rickets, autosomal dominant30.3SFRP4, PHEX, MEPE, FGF23
5mccune albright syndrome30.2FGF23
6nephrocalcinosis30.2PHEX, CLCN5, SLC34A1, SLC34A3
7hypercalcemia30.2BGLAP, ALPPL2, PTH, FGF23, CYP27B1, VDR
8nephrolithiasis30.2PTH, SLC34A3, SLC34A1, CLCN5, FGF23, VDR
9hyperphosphatemia30.2ALPPL2, PTH, SLC34A1, FGF23, VDR, SFRP4
10metabolic acidosis30.1PTH, BGLAP
11hypophosphatemic rickets with hypercalciuria29.8SLC34A3
12hyperphosphatemic familial tumoral calcinosis29.8KL, FGF23
13rickets, vitamin d-resistant, type iia29.8VDR, CYP27B1
14fibrous dysplasia29.8BGLAP, FGF23, ALPPL2
15primary hyperparathyroidism29.7BGLAP, VDR, CYP27B1, FGF23, PTH
16osteoporosis29.7KL, BGLAP, MEPE, VDR, CYP27B1, FGF23
17hypophosphatasia29.7ALPPL2, DSPP
18anorexia nervosa10.4
19sepsis10.3
20hypokalemia10.2
21oncogenic osteomalacia10.2
22diabetic ketoacidosis10.2
23n syndrome10.2
24acute leukemia10.2
25panic disorder10.1
26fanconi syndrome10.1
27hepatitis d10.1
28mccune–albright syndrome10.1
29thyrotoxic periodic paralysis10.1
30hereditary hypophosphatemic rickets10.1
31head injury10.1
32osteomalacia, tumor-induced10.1
33acute liver failure10.0
34hepatitis c10.0
35cushing's syndrome10.0
36sudden infant death syndrome10.0
37hypokalemic periodic paralysis10.0
38jansen's metaphyseal chondrodysplasia10.0
39renal tubular acidosis10.0
40hepatitis a10.0
41asthma10.0
42autosomal dominant disease10.0
43panostotic fibrous dysplasia10.0
44vitamin d-dependent rickets type i10.0
45pulmonary disease, chronic obstructive10.0
46paget's disease of bone10.0ALPPL2
47prostatitis10.0VDR
48paraneoplastic syndromes10.0FGF23, PHEX
49hyperostosis10.0BGLAP, FGF23
50osteonecrosis10.0BGLAP, ALPPL2

Graphical network of the top 20 diseases related to Hypophosphatemia:



Diseases related to hypophosphatemia

Clinical Features for Hypophosphatemia

Drugs & Therapeutics for Hypophosphatemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Genetic Tests for Hypophosphatemia

Anatomical Context for Hypophosphatemia

Sources:
33MalaCards
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MalaCards organs/tissues related to Hypophosphatemia:

33
Liver, Brain, Kidney, Bone marrow, Whole blood, Heart, Skeletal muscle, Small intestine, Breast, Prostate, Myeloid, B cells

Animal Models for Hypophosphatemia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Hypophosphatemia

Sources:
51PubMed
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Articles related to Hypophosphatemia:

(show top 50)    (show all 508)
idTitleAuthorsYear
1
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. (24006476)
2014
2
Renal dysfunction and hypophosphatemia during long-term lamivudine plus adefovir dipivoxil therapy in patients with chronic hepatitis B. (23525978)
2013
3
Extracellular matrix mineralization in periodontal tissues: Noncollagenous matrix proteins, enzymes, and relationship to hypophosphatasia and X-linked hypophosphatemia. (23931057)
2013
4
Spurious hypophosphatemia associated with monoclonal paraproteinemia. (21719426)
2012
5
Oncogenic osteomalacia should be considered in hypophosphatemia, bone pain and pathological fractures. (22744630)
2012
6
Osteopetrosis, hypophosphatemia, and phosphaturia in a young man: a case presentation and differential diagnosis. (22934198)
2012
7
Hypophosphatemia in peritoneal dialysis patients. (21743239)
2011
8
Hypophosphatemia in kidney transplant recipients: report of acute phosphate nephropathy as a complication of therapy. (21333424)
2011
9
Is this the worst outcome of metabolic syndrome? Hypophosphatemia and resulting cardiac arrest during the treatment of diabetic ketoacidosis with hypertriglyceridemia. (19687585)
2009
10
Hypophosphatemia in critically ill children: prevalence and associated risk factors. (19057439)
2009
11
Acute liver damage and subsequent hypophosphatemia in malnourished patients: case reports and review of literature. (18004721)
2008
12
A patient with hypophosphatemia, a femoral fracture, and recurrent kidney stones: report of a novel mutation in SLC34A3. (18996815)
2008
13
Imatinib mesylate induces hypophosphatemia in patients with chronic myeloid leukemia in late chronic phase, and this effect is associated with response. (17117416)
2007
14
Hereditary hypophosphatemias: new genes in the bone-kidney axis. (17635744)
2007
15
Severe hypophosphatemia associated with gallstone pancreatitis: a case report and review of the literature. (16642427)
2006
16
Fibroblast growth factor 23 is increased in calcium nephrolithiasis with hypophosphatemia and renal phosphate leak. (16352682)
2006
17
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. (17033625)
2006
18
Hypophosphatemia: an evidence-based approach to its clinical consequences and management. (16932412)
2006
19
Severe hypophosphatemia in sepsis as a mortality predictor. (16501239)
2006
20
Refeeding syndrome and hypophosphatemia. (15888903)
2005
21
A case of near-fatal hypophosphatemia. (14980358)
2004
22
Severe hypophosphatemia in a patient with diabetic ketoacidosis and acute respiratory failure. (15510933)
2004
23
Hypophosphatemia and hypouricemia in pediatric allogeneic bone marrow transplant recipients. (12654049)
2003
24
Abnormal regulation of renal 25-hydroxyvitamin D-1alpha-hydroxylase activity in X-linked hypophosphatemia: a translational or post-translational defect. (12619927)
2003
25
Post-renal transplantation hypophosphatemia. (14612053)
2003
26
Hypomagnesemia and hypophosphatemia at admission in patients with severe head injury. (10890658)
2000
27
Effect of donor age and rejection episodes on hypophosphatemia in long-term kidney transplant patients. (11119994)
2000
28
Cost reduction strategies in burn nutrition services: adjustments in dietary treatment of patients with hyponatremia and hypophosphatemia. (9934641)
1999
29
Use of a phosphorus-enriched hemodialysate to prevent hypophosphatemia in a patient with renal failure-related pericarditis. (9725787)
1998
30
The effect of recombinant human growth hormone in children with X-linked hypophosphatemia. (9346990)
1997
31
New insights into X-linked hypophosphatemia. (9051349)
1997
32
Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia. (9063736)
1997
33
Expression and cloning of the human X-linked hypophosphatemia gene cDNA. (9070861)
1997
34
Refeeding hypophosphatemia in critically ill patients in an intensive care unit. A prospective study. (8857900)
1996
35
Hemodynamic and metabolic effects of rapid correction of hypophosphatemia in patients with septic shock. (7781370)
1995
36
Hypophosphatemia associated with enteral alimentation in cats. (8523319)
1995
37
Chromosomal localization of the human renal sodium phosphate transporter to chromosome 5: implications for X-linked hypophosphatemia. (8047391)
1994
38
Effects of calcitriol and phosphorus therapy on the growth of patients with X-linked hypophosphatemia. (8473393)
1993
39
Oral phosphate supplements reverse skeletal muscle abnormalities in a case of chronic fatigue with idiopathic renal hypophosphatemia. (8400863)
1993
40
DEXA bone densitometry measurements in adults with X-linked hypophosphatemia. (8344024)
1993
41
Severe hypophosphatemia in postoperative patients. (1289701)
1992
42
Does hypophosphatemia play a role in acute liver failure? (2921001)
1989
43
X-linked hypophosphatemia: a clinical, biochemical, and histopathologic assessment of morbidity in adults. (2811660)
1989
44
The Gy mutation: another cause of X-linked hypophosphatemia in mouse. (3460077)
1986
45
Effect of hypophosphatemia on diaphragmatic contractility in patients with acute respiratory failure. (3860734)
1985
46
Comment on the paper "Hypophosphatemia after cardiothoracic surgery". (4086711)
1985
47
Postoperative myocardial performance during glucose-induced hypophosphatemia. (3984650)
1985
48
N-methylformamide-induced hypophosphatemia. (3978663)
1985
49
Panostotic fibrous dysplasia: a congenital disorder of bone with unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia. (6846403)
1983
50
Platelet aggregation in severe hypophosphatemia. (6576098)
1983

Genetic Variations for Hypophosphatemia

Expression for genes affiliated with Hypophosphatemia

Sources:
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

Sources:
54Reactome, 38NCBI 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
Hide members
10.2VDR, CYP27B1, PTH
5
Development Hedgehog and PTH signaling pathways in bone and cartilage development
Hide members
10.2BGLAP, VDR, PTH
6
Transcription Role of VDR in regulation of genes involved in osteoporosis
Hide members
10.1PTH, CYP27B1, VDR, BGLAP

Compounds for genes affiliated with Hypophosphatemia

Sources:
45Novoseek, 11DrugBank, 24HMDB, 60Tocris Bioscience, 29IUPHAR, 50PharmGKB
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Compounds related to Hypophosphatemia according to GeneCards/GeneDecks:

(show all 41)
idCompoundScoreTop Affiliating Genes
1calcium carbonate4510.7PTH, BGLAP
2Calcidiol11 2411.7VDR, CYP27B1
324(r),25-dihydroxyvitamin d34510.7BGLAP, VDR
4calcifediol6010.6VDR, CYP27B1
5doxercalciferol4510.6VDR, PTH
61,25(oh)2-16-ene-23-yne-d34510.6BGLAP, VDR
7gemini4510.6VDR, CYP27B1
8sevelamer4510.6BGLAP, FGF23
9paricalcitol45 1111.6VDR, CYP27B1, PTH
10alfacalcidol45 60 1112.6BGLAP, VDR, CYP27B1
11Ergocalciferol11 2411.6VDR, CYP27B1
1224,25-dihydroxyvitamin d34510.6BGLAP, VDR, CYP27B1
13kh 10604510.6VDR, BGLAP
14calcipotriol45 60 29 1113.6CYP27B1, VDR, BGLAP
15eb 108945 6011.6CYP27B1, VDR, BGLAP
16deoxypyridinoline4510.6BGLAP, VDR, PTH
1722-oxacalcitriol4510.5BGLAP, VDR
18dmsa4510.5AMBP, VDR
19alendronate45 50 1112.5BGLAP, DSPP, VDR, PTH
20hanp4510.5VDR, AMBP
21tartrate4510.4BGLAP, DSPP
22hydroxyapatite4510.4BGLAP, AMBP, DMP1, DSPP, FGF23
23sodium fluoride4510.4DSPP, BGLAP
24guanidine hydrochloride4510.4DSPP, AMBP, BGLAP
25pamidronate45 50 1112.3BGLAP, PTH
2625-hydroxyvitamin d4510.3BGLAP, SFRP4, VDR, CYP27B1, FGF23, PTH
27lead4510.3CYP27B1, G6PC, AMBP
28phosphorus4510.3BGLAP, PHEX, VDR, CYP27B1, FGF23, SLC34A1
291,25 dihydroxy vitamin d34510.3BGLAP, PHEX, VDR, CYP27B1, FGF23, SLC34A1
30sodium45 2411.3PTH, SLC34A1, PHEX, SFRP4, AMBP
31creatinine4510.3BGLAP, AMBP, VDR, FGF23, CLCN5, PTH
32polyglycolic acid4510.3BGLAP, DSPP
33aspartate4510.3BGLAP, AMBP, G6PC, PHEX, DSPP, VDR
34arginine4510.2BGLAP, G6PC, DSPP, VDR, FGF23, PTH
35vitamin d4510.1BGLAP, PHEX, DMP1, DSPP, VDR, CYP27B1
36alanine4510.1BGLAP, AMBP, G6PC, DSPP, EMP1, VDR
37clodronate45 50 1112.1VDR
38paraffin4510.1ALPPL2, CYP27B1, DSPP, BGLAP
39calcitriol45 60 11 2413.0PTH, BGLAP, SFRP4, PHEX, MEPE, DSPP
40dexamethasone45 50 29 1112.9BGLAP, G6PC, DSPP, VDR, PTH
41calcium45 50 11 2412.4PHEX, GALNT8, G6PC, SFRP4, AMBP, BGLAP

GO Terms for genes affiliated with Hypophosphatemia

Sources:
16Gene Ontology
See all sources

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet