HYP
MCID: XLN002
MIFTS: 72

X-Linked Hypophosphatemia (HYP) malady

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

Summaries for X-Linked Hypophosphatemia

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8Disease Ontology, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Hypophosphatemic rickets (previously called vitamin d-resistant rickets) is a disorder in which the bones become painfully soft and bend easily because the blood contains low levels of phosphate and has inadequate amounts of the active form of vitamin d. the condition can be caused by mutations in the phosphate-regulating endopeptidase gene, also known as the phex gene and is nearly always inherited. the aim of treatment is to raise phosphate levels in the blood, which will promote normal bone formation. phosphate can be taken by mouth and should be combined with calcitriol, the activated form of vitamin d. last updated: 9/17/2009

MalaCards: X-Linked Hypophosphatemia, also known as hypophosphatemic rickets, is related to hypophosphatemia and rickets, and has symptoms including enthesis anomaly/inflammation/enthesitis/enthesopathy, bone pain and genu varum. An important gene associated with X-Linked Hypophosphatemia is PHEX (phosphate regulating endopeptidase homolog, X-linked), and among its related pathways are Type II Na+/Pi cotransporters and FGFR1c and Klotho ligand binding and activation. The compounds paricalcitol and procollagen have been mentioned in the context of this disorder. Affiliated tissues include bone and kidney, and related mouse phenotypes are other and digestive/alimentary.

Disease Ontology:8 A metal metabolism disorder that results from the inactivation of hormone-like substances (phosphatonins) that promote phosphate excretion which has material basis in a x-linked mutation in the phex gene.

Wikipedia:63 X-linked hypophosphatemia (XLH), also called X-linked dominant hypophosphatemic rickets, X-linked... more...

Description from OMIM:46 613312,307800,241520,193100,300554

GeneReviews summary for rickets-xlh

Aliases & Classifications for X-Linked Hypophosphatemia

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8Disease Ontology, 19GeneReviews, 10DISEASES, 48Orphanet, 42NIH Rare Diseases, 9diseasecard, 20GeneTests, 46OMIM, 44Novoseek, 60UMLS, 34MeSH, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
x-linked hypophosphatemia:
Inheritance: X-linked dominant; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

x-linked hypophosphatemia 8 19 10 48
hypophosphatemic rickets 9 42 20 46
hypophosphatemia, vitamin d-resistant rickets 8 42
hypophosphatemic rickets, x-linked dominant 9 46
vitamin d-resistant rickets, x-linked 8 42
x-linked hypophosphatemic rickets 19 48
hypophosphatemia, x-linked 42 20
xlh 42 48
hypophosphatemic rickets x-linked dominant 8
familial hypophosphatemic bone disease 60
x-linked vitamin d-resistant rickets 19
rickets, vitamin d-resistant 8
rickets, hypophosphatemic 8
rickets hypophosphatemic 44
xlhr 19
hyp 42


External Ids:

Disease Ontology8 DOID:0050445
MeSH34 D053098
SNOMED-CT via Orphanet57 82236004
ICD10 via Orphanet26 E83.3

Related Diseases for X-Linked Hypophosphatemia

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

(show top 50)    (show all 119)
idRelated DiseaseScoreTop Affiliating Genes
1hypophosphatemia31.6ALPPL2, ALPP, ALPL, PTH, SLC34A3, SLC34A1
2rickets30.7BGLAP, CYP27B1, PTH, ALPP
3nephrocalcinosis30.6PHEX, CLCN5, SLC34A1, SLC34A3
4osteomalacia30.6ALPL, PTH, SLC34A3, FGF23, CYP27B1, EMP1
5hypophosphatemic rickets with hypercalciuria30.5SLC34A3
6mccune albright syndrome30.4FGF23
7craniosynostosis30.4ALPL
8hyperparathyroidism30.4PTH, FGF23, CYP27B1, EMP1, PHEX, BGLAP
9nephrolithiasis30.4PTH, SLC34A3, SLC34A1, CLCN5, FGF23, EMP1
10hypophosphatasia30.2ALPL, ALPP, ALPPL2
11hypophosphatemic rickets, autosomal dominant30.1PHEX, MEPE, FGF23
12hyperphosphatemic familial tumoral calcinosis30.1FGF23, GALNT3
13osteogenesis imperfecta30.1BGLAP, ALPL, ALPP, ALPPL2
14fibrous dysplasia30.1BGLAP, GH1, FGF23, ALPL, ALPP, ALPPL2
15osteoporosis30.1ALPL, PTH, FGF23, CYP27B1, GH1, MEPE
16hyperphosphatemia29.9KL, ALPPL2, ALPP, ALPL, PTH, SLC34A1
17rickets, vitamin d-resistant, type iia10.5
18hypophosphatemic rickets, autosomal recessive 210.5
19x-linked disease10.4
20fanconi syndrome10.4
21dent's disease10.4
22hypophosphatemic rickets, ar10.4
23enthesopathy10.3
24synostosis10.3
25hypophosphatemic rickets, autosomal recessive 110.3
26hereditary hypophosphatemic rickets with hypercalciuria10.3
27vitamin d-dependent rickets type i10.3
28hypophosphatemic rickets and hyperparathyroidism10.3
29hereditary hypophosphatemic rickets10.3
30renal tubular acidosis10.1
31autosomal dominant disease10.1
32paraplegia10.1
33periodontitis10.1
34dwarfism10.1
35aggressive periodontitis10.1
36klinefelter's syndrome10.1
37osteopetrosis10.1
38kallmann syndrome10.1
39generalized arterial calcification of infancy10.1
40tyrosinemia type i10.1
41papilledema10.1
42respiratory failure10.1
43rhabdomyosarcoma10.1
44fanconi renotubular syndrome 210.1
45hypertension10.0PTH
46panhypopituitarism10.0GH1
47obesity10.0GH1
48paraneoplastic syndromes10.0FGF23, PHEX
49tumoral calcinosis, hyperphosphatemic10.0KL, FGF23
50hyperprolactinemia10.0GH1

Graphical network of the top 20 diseases related to X-Linked Hypophosphatemia:



Diseases related to x-linked hypophosphatemia

Clinical Features for X-Linked Hypophosphatemia

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46OMIM, 48Orphanet
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Clinical features from OMIM:

613312,307800,241520,193100,300554

Clinical synopsis from OMIM:

300554

Symptoms:

48 (show all 15)
  • enthesis anomaly/inflammation/enthesitis/enthesopathy
  • bone pain
  • genu varum
  • enamel anomaly
  • x-linked dominant inheritance
  • abnormal erosion/resorption of teeth/odontolysis
  • mutiple fractures/bone fragility
  • metaphyseal anomaly
  • hypophosphatemia
  • short stature/dwarfism/nanism
  • hearing loss/hypoacusia/deafness
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • joint/articular deformation
  • osteoarthritis

Drugs & Therapeutics for X-Linked Hypophosphatemia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for X-Linked Hypophosphatemia

Drug clinical trials:

Search ClinicalTrials for X-Linked Hypophosphatemia

Search NIH Clinical Center for X-Linked Hypophosphatemia

Search CenterWatch for X-Linked Hypophosphatemia

Genetic Tests for X-Linked Hypophosphatemia

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20GeneTests
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Genetic tests related to X-Linked Hypophosphatemia:

id Genetic test Affiliating Genes
1 X-Linked Hypophosphatemia20 PHEX
2 Hypophosphatemic Rickets Multi-Gene Panels20

Anatomical Context for X-Linked Hypophosphatemia

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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to X-Linked Hypophosphatemia:

32
Bone, Kidney

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to X-Linked Hypophosphatemia:
id TissueAnatomical CompartmentCell Relevance
1 KidneyProximal TubuleProximal Tubule Cells Potential therapeutic candidate, affected by disease

Animal Models for X-Linked Hypophosphatemia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to X-Linked Hypophosphatemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.4KL, GALNT3, PHEX, ALPL
2MP:00053819.1ALPL, SLC34A3, FGF23, PHEX, GALNT3, KL
3MP:00053678.9KL, GALNT3, PHEX, CYP27B1, FGF23, CLCN5
4MP:00053828.8GALNT3, PHEX, DMP1, CLCN5, PTH, ALPL
5MP:00053718.8KL, GALNT3, PHEX, DMP1, CYP27B1, FGF23
6MP:00053897.9KL, GALNT3, GH1, CYP27B1, FGF23, SLC34A1
7MP:00053767.9GH1, PHEX, GALNT3, KL, CYP27B1, FGF1
8MP:00053907.8ALPL, KL, GALNT3, PHEX, DMP1, MEPE
9MP:00053787.4KL, GALNT3, PHEX, GH1, CYP27B1, FGF23

Publications for X-Linked Hypophosphatemia

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50PubMed
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Articles related to X-Linked Hypophosphatemia:

(show top 50)    (show all 96)
idTitleAuthorsYear
1
High bone mineral apparent density in children with X-linked hypophosphatemia. (23389694)
2013
2
Dosage effect of a Phex mutation in a murine model of X-linked hypophosphatemia. (23700148)
2013
3
Proteolytic processing of osteopontin by PHEX and accumulation of osteopontin fragments in Hyp mouse bone, the murine model of X-linked hypophosphatemia. (22991293)
2013
4
Extracellular matrix mineralization in periodontal tissues: Noncollagenous matrix proteins, enzymes, and relationship to hypophosphatasia and X-linked hypophosphatemia. (23931057)
2013
5
Circulating levels of soluble klotho and FGF23 in X-linked hypophosphatemia: circadian variance, effects of treatment, and relationship to parathyroid status. (20685863)
2010
6
Survey of the enthesopathy of X-linked hypophosphatemia and its characterization in Hyp mice. (19609735)
2009
7
Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia. (18172553)
2008
8
X-linked hypophosphatemia: dental and histologic findings. (16480608)
2006
9
Role of matrix extracellular phosphoglycoprotein in the pathogenesis of X-linked hypophosphatemia. (15843468)
2005
10
Recombinant growth hormone therapy for X-linked hypophosphatemia in children. (15674949)
2005
11
Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. (12890852)
2003
12
Effect of GH replacement therapy in two male siblings with combined X-linked hypophosphatemia and partial GH deficiency. (14514346)
2003
13
Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. (12892105)
2003
14
Pathophysiology of X-linked hypophosphatemia, tumor-induced osteomalacia, and autosomal dominant hypophosphatemia: a perPHEXing problem. (11157997)
2001
15
X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gene. (14564077)
2000
16
Effect of dipyridamole on serum and urinary phosphate in X-linked hypophosphatemia. (11095012)
2000
17
Lumbar and radial bone mineral density in children and adolescents with X-linked hypophosphatemia: evaluation with dual X-ray absorptiometry. (10741497)
2000
18
PHEX expression in parathyroid gland and parathyroid hormone dysregulation in X-linked hypophosphatemia. (10460513)
1999
19
The effect of osteotomy on bowing and height in children with X-linked hypophosphatemia. (9890299)
1999
20
New insights into X-linked hypophosphatemia. (9051349)
1997
21
Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia. (9063736)
1997
22
Paraplegia due to ossification of ligamenta flava in X-linked hypophosphatemia. A case report. (9089946)
1997
23
Expression and cloning of the human X-linked hypophosphatemia gene cDNA. (9070861)
1997
24
Mutation watch: PEX PLUS? Gene(s) for X-linked hypophosphatemia and deafness. (9250856)
1997
25
Cardiovascular abnormalities in patients with X-linked hypophosphatemia. (9253316)
1997
26
Whole-body bone scan findings in X-linked hypophosphatemia. (8744188)
1996
27
Nephrocalcinosis is associated with renal tubular acidosis in children with X-linked hypophosphatemia. (8545232)
1996
28
Nocturnal hyperparathyroidism: a frequent feature of X-linked hypophosphatemia. (8200940)
1994
29
X-linked hypophosphatemia: molecular biology and treatment controversies. (8042500)
1994
30
Radiologic vignette. X-linked hypophosphatemia (familial vitamin D-resistant rickets). (8129801)
1994
31
The effect of phosphate supplementation on linear growth in children with X-linked hypophosphatemia. (7936855)
1994
32
Enthesopathy as the presenting feature of X-linked hypophosphatemia. A case report. (8498190)
1993
33
X-Linked Hypophosphatemia (22319799)
1993
34
Effects of calcitriol and phosphorus therapy on the growth of patients with X-linked hypophosphatemia. (8473393)
1993
35
DEXA bone densitometry measurements in adults with X-linked hypophosphatemia. (8344024)
1993
36
X-linked hypophosphatemia. A phenotype in search of a cause. (1592145)
1992
37
X-linked hypophosphatemia: skeletal mass in adults assessed by histomorphometry, computed tomography, and absorptiometry. (1986592)
1991
38
X-linked hypophosphatemia. Genetic and clinical correlates. (1858722)
1991
39
X-linked hypophosphatemia: the mutant gene is expressed in teeth as well as in kidney. (2155529)
1990
40
X-linked hypophosphatemia: a clinical, biochemical, and histopathologic assessment of morbidity in adults. (2811660)
1989
41
Parabiosis suggests a humoral factor is involved in X-linked hypophosphatemia in mice. (2816498)
1989
42
Oral findings in patients with autosomal dominant hypophosphatemic bone disease and X-linked hypophosphatemia: further evidence that they are different diseases. (2845325)
1988
43
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
44
Audiometric evidence for two forms of X-linked hypophosphatemia in humans, apparent counterparts of Hyp and Gy mutations in mouse. (3425609)
1987
45
X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22. (3015771)
1986
46
X-linked hypophosphatemia (familial or sex-linked vitamin-D-resistant rickets). X-linked hypophosphatemic (Hyp) mice. (2982272)
1985
47
Renal brush border membranes from mice with X-linked hypophosphatemia: protein composition, phosphate binding capacity, and protein kinase activity. (6095982)
1984
48
Renal adaptation to phosphate deprivation in the Hyp mouse with X-linked hypophosphatemia. (476527)
1979
49
Loss of a parathyroid hormone-sensitive component of phosphate transport in X-linked hypophosphatemia. (4333173)
1972
50
Serum parathyroid hormone in X-linked hypophosphatemia. (5315247)
1971

Genetic Variations for X-Linked Hypophosphatemia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for X-Linked Hypophosphatemia:

62 (show all 31)
id Symbol AA change Variation ID SNP ID
1CLCN5p.Ser244LeuVAR_001618
2PHEXp.Cys77SerVAR_006738
3PHEXp.Cys85TyrVAR_006739
4PHEXp.Leu138ProVAR_006740
5PHEXp.Arg166CysVAR_006741
6PHEXp.Phe252SerVAR_006742
7PHEXp.Met253IleVAR_006743
8PHEXp.Pro534LeuVAR_006744
9PHEXp.Gly579ArgVAR_006745
10PHEXp.Gly579ValVAR_006746
11PHEXp.Phe80SerVAR_010616
12PHEXp.Cys85PheVAR_010617
13PHEXp.Cys85ArgVAR_010618
14PHEXp.Ser141ProVAR_010619
15PHEXp.Cys142PheVAR_010620
16PHEXp.Leu160ArgVAR_010621
17PHEXp.Asp237GlyVAR_010622
18PHEXp.Tyr317PheVAR_010623
19PHEXp.Trp530CysVAR_010626
20PHEXp.Leu555ProVAR_010627
21PHEXp.Arg567ProVAR_010628
22PHEXp.Ala573AspVAR_010629
23PHEXp.Gln621ArgVAR_010630
24PHEXp.Arg651ProVAR_010631
25PHEXp.Asn680LysVAR_010633
26PHEXp.Cys693TyrVAR_010634
27PHEXp.Ala720ThrVAR_010635
28PHEXp.Phe731TyrVAR_010636
29PHEXp.Cys733SerVAR_010637
30PHEXp.Cys746TrpVAR_010638
31PHEXp.Trp749ArgVAR_010639

Expression for genes affiliated with X-Linked Hypophosphatemia

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

Search GEO for disease gene expression data for X-Linked Hypophosphatemia.

Pathways for genes affiliated with X-Linked Hypophosphatemia

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53Reactome, 37NCBI BioSystems Database, 12EMD Millipore, 29KEGG
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Pathways related to X-Linked Hypophosphatemia according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.1SLC34A3, SLC34A1
2
Hide members
10.1FGF23, KL
310.0PTH, FGF23
4
Vitamin D2 (ergocalciferol) metabolism
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10.0PTH, CYP27B1
5
Hide members
9.7FGF23, FGF1, KL
6
Hide members
9.7FGF23, FGF1, KL
79.6GH1, PTH, ALPL
8
Hide members
9.4FGF23, FGF1, GH1, KL
9
Transcription Role of VDR in regulation of genes involved in osteoporosis
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9.4BGLAP, CYP27B1, PTH
109.3BGLAP, FGF1, FGF23
119.0ALPPL2, ALPP, ALPL
12
NAD metabolism
Hide members
9.0ALPPL2, ALPP, ALPL

Compounds for genes affiliated with X-Linked Hypophosphatemia

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44Novoseek, 11DrugBank, 59Tocris Bioscience, 28IUPHAR, 24HMDB, 49PharmGKB, 2BitterDB
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Compounds related to X-Linked Hypophosphatemia according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1paricalcitol44 1111.2CYP27B1, PTH
2procollagen4410.1ALPP
3sevelamer4410.0FGF23, BGLAP
4alfacalcidol44 59 1111.9BGLAP, CYP27B1
5amifostine44 1110.8ALPPL2, ALPL
6cysteine449.7ALPL, FGF1, CYP27B1
7heparin44 28 11 2412.6FGF23, GH1, BGLAP
8phosphoethanolamine449.6ALPL, ALPP
9cycloheximide449.6ALPP, PTH
107,8-dihydroneopterin44 2410.4ALPPL2, ALPP, ALPL
11dihydroneopterin triphosphate44 2410.4ALPL, ALPP, ALPPL2
12dihydroxyacetone44 2410.4ALPL, ALPP, ALPPL2
13ipriflavone449.4ALPP, BGLAP
14levamisole44 1110.4ALPPL2, ALPP, ALPL
15tio2449.4ALPP, BGLAP
1622-oxacalcitriol449.3BGLAP, ALPP
17etidronate449.2BGLAP, ALPP
18estrone44 28 11 2412.2BGLAP, GH1, PTH
1924,25-dihydroxyvitamin d3449.2BGLAP, CYP27B1, ALPP
20calcium carbonate449.2BGLAP, PTH, ALPP
21pamidronate44 49 1111.2BGLAP, PTH, ALPP
22ibmx44 28 5911.2ALPP, PTH, FGF1, GH1
23alizarin449.1ALPP, ALPL, BGLAP
24pyridinoline449.1ALPP, GH1, BGLAP
25chloramphenicol44 2 1111.1ALPP, FGF1, CYP27B1, GH1
26hydroxyproline44 11 2411.1BGLAP, PTH, ALPP
27fluoride449.1BGLAP, GH1, ALPP
28vitamin k2449.0ALPP, BGLAP
29guanidine hydrochloride449.0BGLAP, FGF1, ALPP
30deoxypyridinoline448.9ALPP, PTH, GH1, BGLAP
31alendronate44 49 1110.9BGLAP, GH1, PTH, ALPP
32thyroxine44 249.9BGLAP, GH1, PTH, ALPP
33hydrocortisone44 2 59 1111.8BGLAP, GH1, FGF1, ALPP
34creatinine448.8BGLAP, FGF23, CLCN5, PTH, ALPP
3525-hydroxyvitamin d448.8BGLAP, CYP27B1, FGF23, PTH, ALPP
36hydroxyapatite448.8BGLAP, DMP1, FGF23, ALPL, ALPP
37tartrate448.7ALPP, BGLAP
38aspartate448.6BGLAP, PHEX, GH1, ALPL, ALPP
39tamoxifen44 49 28 1111.6BGLAP, GH1, FGF1, PTH, ALPP
40phosphorus448.4BGLAP, PHEX, CYP27B1, FGF23, SLC34A1, PTH
41arginine448.3BGLAP, GH1, FGF1, FGF23, PTH, ALPP
42h2o2448.3BGLAP, GH1, FGF1, CLCN5, ALPP
43testosterone44 59 11 2411.3BGLAP, GH1, CYP27B1, FGF1, PTH, ALPP
44vegf448.3KL, BGLAP, GH1, FGF1, PTH, ALPP
45paraffin448.2BGLAP, GH1, CYP27B1, FGF1, ALPP, ALPPL2
461,25 dihydroxy vitamin d3448.1BGLAP, PHEX, GH1, CYP27B1, FGF23, SLC34A1
47retinoic acid44 249.0BGLAP, GH1, CYP27B1, FGF1, ALPL, ALPP
48calcitriol44 59 11 2410.7BGLAP, PHEX, MEPE, GH1, CYP27B1, FGF23
49vitamin d447.6ALPP, BGLAP, PHEX, DMP1, GH1, CYP27B1
50calcium44 49 11 249.5DMP1, PHEX, GALNT3, GALNT8, BGLAP, KL

GO Terms for genes affiliated with X-Linked Hypophosphatemia

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

idNameGO IDScoreTop Affiliating Genes
1anchored to membraneGO:0312259.0ALPPL2, ALPP, ALPL
2extracellular spaceGO:0056158.0ALPL, KL, BGLAP, GH1, FGF1, FGF23

Biological processes related to X-Linked Hypophosphatemia according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1vitamin D catabolic processGO:04236910.2CYP27B1, FGF23
2phosphate ion homeostasisGO:05506210.2SLC34A1, FGF23
3positive regulation of vitamin D 24-hydroxylase activityGO:01098010.2CYP27B1, FGF23
4cellular phosphate ion homeostasisGO:03064310.2SLC34A3, FGF23
5positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:09008010.1FGF23, KL
6phosphate ion transportGO:00681710.1SLC34A1, SLC34A3
7calcium ion homeostasisGO:05507410.0CYP27B1, KL
8bone mineralizationGO:0302829.7CYP27B1, PHEX, BGLAP
9negative regulation of bone mineralizationGO:0305029.6FGF23, MEPE
10response to vitamin DGO:0332809.6BGLAP, CYP27B1, ALPL
11regulation of bone mineralizationGO:0305009.5CYP27B1, BGLAP
12skeletal system developmentGO:0015019.0ALPL, PTH, MEPE, PHEX, BGLAP

Molecular functions related to X-Linked Hypophosphatemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sodium-dependent phosphate transmembrane transporter activityGO:0153219.8SLC34A3, SLC34A1
2hormone activityGO:0051799.7PTH, GH1, KL
3alkaline phosphatase activityGO:0040358.9ALPPL2, ALPP, ALPL

Products for genes affiliated with X-Linked Hypophosphatemia

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Sources for X-Linked 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