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

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 mutiple fractures/bone fragility, hearing loss/hypoacusia/deafness and short stature/dwarfism/nanism. 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

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

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

613312,307800,241520,193100,300554

Clinical synopsis from OMIM:

300554

Symptoms:

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

Drugs & Therapeutics for X-Linked Hypophosphatemia

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section
Sources:
20GeneTests
See all sources

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

About this section
Sources:
30LifeMap Discovery™, 32MalaCards
See all sources

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

About this section
Sources:
36MGI
See all sources

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

About this section
Sources:
50PubMed
See all sources

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
Iron and fibroblast growth factor 23 in X-linked hypophosphatemia. (24325979)
2013
3
MEPE-derived ASARM peptide inhibits odontogenic differentiation of dental pulp stem cells and impairs mineralization in tooth models of X-linked hypophosphatemia. (23451077)
2013
4
A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells. (22006791)
2012
5
Calcitonin administration in X-linked hypophosphatemia. (21524226)
2011
6
A clinician's guide to X-linked hypophosphatemia. (21538511)
2011
7
Circulating levels of soluble klotho and FGF23 in X-linked hypophosphatemia: circadian variance, effects of treatment, and relationship to parathyroid status. (20685863)
2010
8
Autism and X-linked hypophosphatemia: A possible association? (20838491)
2010
9
Role of prostaglandins in the pathogenesis of X-linked hypophosphatemia. (16721588)
2006
10
Anthropometric characteristics of X-linked hypophosphatemia. (15057978)
2004
11
New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice. (15029877)
2004
12
The genomic response of the mouse kidney to low-phosphate diet is altered in X-linked hypophosphatemia. (15054142)
2004
13
Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. (12890852)
2003
14
Abnormal regulation of renal 25-hydroxyvitamin D-1alpha-hydroxylase activity in X-linked hypophosphatemia: a translational or post-translational defect. (12619927)
2003
15
An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets. (12414538)
2002
16
X-linked hypophosphatemia in Polish patients. 2. Analysis of clinical features and genotype-phenotype correlation. (14564066)
2001
17
X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene. (11502821)
2001
18
Effect of dipyridamole on serum and urinary phosphate in X-linked hypophosphatemia. (11095012)
2000
19
PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia. (10874297)
2000
20
Evidence for Phex haploinsufficiency in murine X-linked hypophosphatemia. (10087298)
1999
21
The effect of osteotomy on bowing and height in children with X-linked hypophosphatemia. (9890299)
1999
22
Coordinated maturational regulation of PHEX and renal phosphate transport inhibitory activity: evidence for the pathophysiological role of PHEX in X-linked hypophosphatemia. (10620061)
1999
23
The effect of recombinant human growth hormone in children with X-linked hypophosphatemia. (9346990)
1997
24
New insights into X-linked hypophosphatemia. (9051349)
1997
25
Phosphate transport in renal cell cultures of gy mice: evidence of a single defect in X-linked hypophosphatemia. (9249598)
1997
26
X-linked hypophosphatemia: effects of treatment with recombinant human growth hormone. (9323282)
1997
27
Expression and cloning of the human X-linked hypophosphatemia gene cDNA. (9070861)
1997
28
Mutation watch: PEX PLUS? Gene(s) for X-linked hypophosphatemia and deafness. (9250856)
1997
29
X-linked hypophosphatemia: normal renal function despite medullary nephrocalcinosis 25 years after transient vitamin D2-induced renal azotemia. (9430241)
1997
30
Cardiovascular abnormalities in patients with X-linked hypophosphatemia. (9253316)
1997
31
X-linked hypophosphatemia: a search for gender, race, anticipation, or parent of origin effects on disease expression in children. (8923863)
1996
32
cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone. (8812412)
1996
33
Stimulation of growth hormone secretion in children with X-linked hypophosphatemia. (8747120)
1995
34
Chromosomal localization of the human renal sodium phosphate transporter to chromosome 5: implications for X-linked hypophosphatemia. (8047391)
1994
35
Enthesopathy as the presenting feature of X-linked hypophosphatemia. A case report. (8498190)
1993
36
X-Linked Hypophosphatemia (22319799)
1993
37
X-linked hypophosphatemia: an appreciation of a classic paper and a survey of progress since 1958. (1851532)
1991
38
X-linked hypophosphatemia: skeletal mass in adults assessed by histomorphometry, computed tomography, and absorptiometry. (1986592)
1991
39
X-linked hypophosphatemia. Genetic and clinical correlates. (1858722)
1991
40
X-linked hypophosphatemia in adults: prevalence of skeletal radiographic and scintigraphic features. (2539609)
1989
41
X-linked hypophosphatemia. (2662303)
1989
42
Parabiosis suggests a humoral factor is involved in X-linked hypophosphatemia in mice. (2816498)
1989
43
Specific internalization and action of 1,25-dihydroxyvitamin D3 in cultured dermal fibroblasts from patients with X-linked hypophosphatemia. (6547728)
1984
44
Normal milk composition in lactating X-linked hypophosphatemic mice despite continued hypophosphatemia. (6689137)
1983
45
The defect in transcellular transport of phosphate in the nephron is located in brush-border membranes in X-linked hypophosphatemia (Hyp mouse model). (566613)
1978
46
Occurrence of hyperparathyroidism in children with X-linked hypophosphatemia under treatment with vitamin D and phsophate. (899930)
1977
47
Hypophosphatemic nonrachitic bone disease: an entity distinct from X-linked hypophosphatemia in the renal defect, bone involvement, and inheritance. (610422)
1977
48
Familial forms of vitamin D-resistant rickets revisited. X-linked hypophosphatemia and autosomal recessive vitamin D dependency. (187056)
1976
49
Orthophosphate transport in the erythrocyte of normal subjects and of patients with X-linked hypophosphatemia. (1117070)
1975
50
Letter: Parathyroid hormone secretion in X-linked hypophosphatemia. (4827642)
1974

Genetic Variations for X-Linked Hypophosphatemia

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

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

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
53Reactome, 37NCBI BioSystems Database, 12EMD Millipore, 29KEGG
See all sources

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
Hide members
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
Hide members
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

About this section
Sources:
44Novoseek, 11DrugBank, 59Tocris Bioscience, 28IUPHAR, 24HMDB, 49PharmGKB, 2BitterDB
See all sources

Compounds related to X-Linked Hypophosphatemia according to GeneCards/GeneDecks:

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

GO Terms for genes affiliated with X-Linked Hypophosphatemia

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for X-Linked Hypophosphatemia

About this section
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