HYP
MCID: XLN002
MIFTS: 63

X-Linked Hypophosphatemia (HYP) malady

Genetic diseases, Rare diseases, Nephrological diseases, Bone diseases, Endocrine diseases, Fetal diseases, Metabolic diseases categories
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Summaries for X-Linked Hypophosphatemia

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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 based summary: X-Linked Hypophosphatemia, also known as hypophosphatemic rickets, is related to hypophosphatemic rickets with hypercalciuria and hypophosphatemic rickets, autosomal dominant, and has symptoms including enamel anomaly, abnormal erosion/resorption of teeth/odontolysis 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 FGFR ligand binding and activation and Insulin receptor signalling cascade. The compounds chloride and hydroxyapatite have been mentioned in the context of this disorder. Affiliated tissues include bone and kidney, and related mouse phenotypes are craniofacial 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:65 X-linked hypophosphatemia (XLH), also called X-linked dominant hypophosphatemic rickets, X-linked... more...

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

GeneReviews summary for rickets-xlh

Aliases & Classifications for X-Linked Hypophosphatemia

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X-Linked Hypophosphatemia, Aliases & Descriptions:

Name: X-Linked Hypophosphatemia 30 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 62
X-Linked Vitamin D-Resistant Rickets 19
Rickets, Vitamin D-Resistant 8
Rickets, Hypophosphatemic 8
Rickets Hypophosphatemic 44
Xlhr 19
Hyp 42


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


External Ids:

Disease Ontology8 DOID:0050445
MeSH34 D053098
ICD10 via Orphanet26 E83.3

Related Diseases for X-Linked Hypophosphatemia

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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 67)
idRelated DiseaseScoreTop Affiliating Genes
1hypophosphatemic rickets with hypercalciuria31.9SLC34A3
2hypophosphatemic rickets, autosomal dominant30.6FGF23, PHEX
3nephrolithiasis30.5SLC34A1, CLCN5
4nephrocalcinosis30.4CLCN5, PHEX, SLC34A3, SLC34A1
5hyperparathyroidism30.4KL, PHEX, FGF23
6hyperphosphatemic familial tumoral calcinosis30.3FGF23, KL
7osteoporosis30.3KL, FGF23
8hypophosphatemia30.3FGF23, SLC34A1, SLC34A3, PHEX, CLCN5, DMP1
9rickets30.2CLCN5, DMP1, FGF23, SLC34A3, PHEX
10osteomalacia30.0DMP1, KL, PHEX, SLC34A3, FGF23
11hyperphosphatemia29.7SLC34A1, FGF23, KL
12hereditary hypophosphatemic rickets with hypercalciuria10.8
13epidermal nevus10.5
14hypophosphatemic rickets, autosomal recessive 210.5
15rickets, vitamin d-resistant, type iia10.5
16oncogenic osteomalacia10.4
17dent's disease10.4
18hypophosphatemic rickets, ar10.4
19hypophosphatemic rickets and hyperparathyroidism10.4
20enthesopathy10.3
21craniosynostosis10.3
22mccune albright syndrome10.3
23fanconi syndrome10.3
24synostosis10.3
25hypophosphatemic rickets, autosomal recessive 110.3
26vitamin d-dependent rickets type i10.3
27hereditary hypophosphatemic rickets10.3
28paraneoplastic syndromes10.2FGF23, PHEX
29renal tubular acidosis10.2
30hypophosphatasia10.2
31paraplegia10.2
32periodontitis10.2
33dwarfism10.2
34blindness10.2
35osteopetrosis10.2
36tyrosinemia type i10.2
37klinefelter's syndrome10.2
38aggressive periodontitis10.2
39arterial calcification of infancy10.2
40osteogenesis imperfecta10.2
41fibrous dysplasia10.2
42kallmann syndrome10.2
43cervicitis10.2
44papilledema10.2
45respiratory failure10.2
46rhabdomyosarcoma10.2
47aminoaciduria10.2
48familial glucocorticoid deficiency10.2
49fanconi bickel syndrome10.2
50linear nevus sebaceous syndrome10.2

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



Diseases related to x-linked hypophosphatemia

Symptoms for X-Linked Hypophosphatemia

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Symptoms by clinical synopsis from OMIM:

300554

Clinical features from OMIM:

241520,613312,193100,300554,307800

Symptoms:

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

HPO human phenotypes related to X-Linked Hypophosphatemia:

(show all 78)
id Description Frequency HPO Source Accession
1 dolichocephaly hallmark (90%) HP:0000268
2 abnormality of dental enamel hallmark (90%) HP:0000682
3 delayed eruption of teeth hallmark (90%) HP:0000684
4 pectus excavatum hallmark (90%) HP:0000767
5 limitation of joint mobility hallmark (90%) HP:0001376
6 short stature hallmark (90%) HP:0004322
7 bowing of the long bones hallmark (90%) HP:0006487
8 abnormality of calcium-phosphate metabolism hallmark (90%) HP:0100530
9 exostoses hallmark (90%) HP:0100777
10 abnormality of dental enamel hallmark (90%) HP:0000682
11 abnormality of the metaphyses hallmark (90%) HP:0000944
12 hypophosphatemia hallmark (90%) HP:0002148
13 bone pain hallmark (90%) HP:0002653
14 genu varum hallmark (90%) HP:0002970
15 reduced bone mineral density hallmark (90%) HP:0004349
16 premature loss of teeth hallmark (90%) HP:0006480
17 craniosynostosis typical (50%) HP:0001363
18 scoliosis typical (50%) HP:0002650
19 osteoarthritis typical (50%) HP:0002758
20 short stature typical (50%) HP:0004322
21 craniofacial hyperostosis typical (50%) HP:0004493
22 enthesitis typical (50%) HP:0100686
23 hearing impairment occasional (7.5%) HP:0000365
24 recurrent fractures occasional (7.5%) HP:0002757
25 proximal tubulopathy HP:0000114
26 renal phosphate wasting HP:0000117
27 nephrocalcinosis HP:0000121
28 nephrolithiasis HP:0000787
29 x-linked recessive inheritance HP:0001419
30 hypophosphatemia HP:0002148
31 hypercalciuria HP:0002150
32 bone pain HP:0002653
33 delayed epiphyseal ossification HP:0002663
34 rickets HP:0002748
35 osteomalacia HP:0002749
36 sparse bone trabeculae HP:0002752
37 thin bony cortex HP:0002753
38 recurrent fractures HP:0002757
39 bowing of the legs HP:0002979
40 femoral bowing HP:0002980
41 tibial bowing HP:0002982
42 bulging epiphyses HP:0003013
43 enlargement of the wrists HP:0003020
44 metaphyseal irregularity HP:0003025
45 enlargement of the ankles HP:0003029
46 low-molecular-weight proteinuria HP:0003126
47 increased serum 1,25-dihydroxyvitamin d3 HP:0003152
48 phenotypic variability HP:0003812
49 short stature HP:0004322
50 hypophosphatemic rickets HP:0004912
51 fibular bowing HP:0010502
52 chronic kidney disease HP:0012622
53 renal phosphate wasting HP:0000117
54 renal tubular dysfunction HP:0000124
55 x-linked dominant inheritance HP:0001423
56 frontal bossing HP:0002007
57 hypophosphatemia HP:0002148
58 spinal cord compression HP:0002176
59 abnormality of pelvic girdle bone morphology HP:0002644
60 bone pain HP:0002653
61 osteomalacia HP:0002749
62 osteoarthritis HP:0002758
63 arthralgia HP:0002829
64 bowing of the legs HP:0002979
65 femoral bowing HP:0002980
66 tibial bowing HP:0002982
67 metaphyseal irregularity HP:0003025
68 elevated alkaline phosphatase HP:0003155
69 elevated circulating parathyroid hormone (pth) level HP:0003165
70 spinal canal stenosis HP:0003416
71 phenotypic variability HP:0003812
72 short stature HP:0004322
73 hypophosphatemic rickets HP:0004912
74 hypomineralization of enamel HP:0006285
75 trapezoidal distal femoral condyles HP:0006432
76 shortening of the talar neck HP:0008117
77 flattening of the talar dome HP:0008144
78 fibular bowing HP:0010502

Drugs & Therapeutics for X-Linked Hypophosphatemia

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Drug clinical trials:

Search ClinicalTrials for X-Linked Hypophosphatemia

Search NIH Clinical Center for X-Linked Hypophosphatemia

Genetic Tests for X-Linked Hypophosphatemia

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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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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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MGI Mouse Phenotypes related to X-Linked Hypophosphatemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1DMP1, PHEX, CLCN5
2MP:00053818.5KL, PHEX, SLC34A3, FGF23
3MP:00053718.5KL, DMP1, PHEX, FGF23
4MP:00053677.5KL, PHEX, SLC34A3, SLC34A1, FGF23, CLCN5
5MP:00053787.5FGF23, SLC34A1, SLC34A3, PHEX, KL
6MP:00053767.4SLC34A3, CLCN5, KL, PHEX, SLC34A1, FGF23
7MP:00053906.9FGF23, DMP1, CLCN5, KL, PHEX, SLC34A3

Publications for X-Linked Hypophosphatemia

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Articles related to X-Linked Hypophosphatemia:

(show top 50)    (show all 92)
idTitleAuthorsYear
1
Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia. (24569459)
2014
2
Effect of paricalcitol on circulating parathyroid hormone in X-linked hypophosphatemia: a randomized, double-blind, placebo-controlled study. (25029424)
2014
3
High bone mineral apparent density in children with X-linked hypophosphatemia. (23389694)
2013
4
Dosage effect of a Phex mutation in a murine model of X-linked hypophosphatemia. (23700148)
2013
5
Iron and fibroblast growth factor 23 in X-linked hypophosphatemia. (24325979)
2013
6
MEPE-derived ASARM peptide inhibits odontogenic differentiation of dental pulp stem cells and impairs mineralization in tooth models of X-linked hypophosphatemia. (23451077)
2013
7
Calcitonin administration in X-linked hypophosphatemia. (21524226)
2011
8
Circulating levels of soluble klotho and FGF23 in X-linked hypophosphatemia: circadian variance, effects of treatment, and relationship to parathyroid status. (20685863)
2010
9
Autism and X-linked hypophosphatemia: A possible association? (20838491)
2010
10
X-linked hypophosphatemia: dental and histologic findings. (16480608)
2006
11
Role of matrix extracellular phosphoglycoprotein in the pathogenesis of X-linked hypophosphatemia. (15843468)
2005
12
Anthropometric characteristics of X-linked hypophosphatemia. (15057978)
2004
13
New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice. (15029877)
2004
14
Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. (12890852)
2003
15
Effect of GH replacement therapy in two male siblings with combined X-linked hypophosphatemia and partial GH deficiency. (14514346)
2003
16
An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets. (12414538)
2002
17
Thiazide diuretics arrest the progression of nephrocalcinosis in children with X-linked hypophosphatemia. (11433085)
2001
18
X-linked hypophosphatemia in Polish patients. 2. Analysis of clinical features and genotype-phenotype correlation. (14564066)
2001
19
X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gene. (14564077)
2000
20
Effect of dipyridamole on serum and urinary phosphate in X-linked hypophosphatemia. (11095012)
2000
21
PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia. (10874297)
2000
22
PHEX expression in parathyroid gland and parathyroid hormone dysregulation in X-linked hypophosphatemia. (10460513)
1999
23
Mutational analysis of PHEX gene in X-linked hypophosphatemia. (9768674)
1998
24
The effect of recombinant human growth hormone in children with X-linked hypophosphatemia. (9346990)
1997
25
New insights into X-linked hypophosphatemia. (9051349)
1997
26
Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia. (9063736)
1997
27
Paraplegia due to ossification of ligamenta flava in X-linked hypophosphatemia. A case report. (9089946)
1997
28
Phosphate transport in renal cell cultures of gy mice: evidence of a single defect in X-linked hypophosphatemia. (9249598)
1997
29
X-linked hypophosphatemia: effects of treatment with recombinant human growth hormone. (9323282)
1997
30
Whole-body bone scan findings in X-linked hypophosphatemia. (8744188)
1996
31
X-linked hypophosphatemia: a search for gender, race, anticipation, or parent of origin effects on disease expression in children. (8923863)
1996
32
Nephrocalcinosis is associated with renal tubular acidosis in children with X-linked hypophosphatemia. (8545232)
1996
33
Nephrocalcinosis in X-linked hypophosphatemia: effect of treatment versus disease. (7794712)
1995
34
Stimulation of growth hormone secretion in children with X-linked hypophosphatemia. (8747120)
1995
35
Chromosomal localization of the human renal sodium phosphate transporter to chromosome 5: implications for X-linked hypophosphatemia. (8047391)
1994
36
Nocturnal hyperparathyroidism: a frequent feature of X-linked hypophosphatemia. (8200940)
1994
37
Enthesopathy as the presenting feature of X-linked hypophosphatemia. A case report. (8498190)
1993
38
X-Linked Hypophosphatemia (22319799)
1993
39
Effects of calcitriol and phosphorus therapy on the growth of patients with X-linked hypophosphatemia. (8473393)
1993
40
X-linked hypophosphatemia: an appreciation of a classic paper and a survey of progress since 1958. (1851532)
1991
41
X-linked hypophosphatemia: skeletal mass in adults assessed by histomorphometry, computed tomography, and absorptiometry. (1986592)
1991
42
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
43
Audiometric evidence for two forms of X-linked hypophosphatemia in humans, apparent counterparts of Hyp and Gy mutations in mouse. (3425609)
1987
44
The Gy mutation: another cause of X-linked hypophosphatemia in mouse. (3460077)
1986
45
X-linked hypophosphatemia (familial or sex-linked vitamin-D-resistant rickets). X-linked hypophosphatemic (Hyp) mice. (2982272)
1985
46
Renal adaptation to phosphate deprivation in the Hyp mouse with X-linked hypophosphatemia. (476527)
1979
47
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
48
Occurrence of hyperparathyroidism in children with X-linked hypophosphatemia under treatment with vitamin D and phsophate. (899930)
1977
49
Familial forms of vitamin D-resistant rickets revisited. X-linked hypophosphatemia and autosomal recessive vitamin D dependency. (187056)
1976
50
Serum parathyroid hormone in X-linked hypophosphatemia. (5315247)
1971

Variations for X-Linked Hypophosphatemia

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

64 (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

Clinvar genetic disease variations for X-Linked Hypophosphatemia:

6 (show all 19)
id Gene Name Type Significance SNP ID Assembly Location
1PHEXPHEX, 2-BP DEL, 675TCdeletionPathogenic
2PHEXPHEX, IVS1AS, G-A, -1single nucleotide variantPathogenic
3PHEXPHEX, IVS1AS, G-C, -1single nucleotide variantPathogenic
4PHEXNM_000444.5(PHEX): c.830T> A (p.Leu277Ter)single nucleotide variantPathogenicrs137853268GRCh37Chr X, 22112198: 22112198
5PHEXNM_000444.5(PHEX): c.254G> A (p.Cys85Tyr)single nucleotide variantPathogenicrs137853269GRCh37Chr X, 22065234: 22065234
6PHEXNM_000444.5(PHEX): c.755T> C (p.Phe252Ser)single nucleotide variantPathogenicrs267606945GRCh37Chr X, 22112123: 22112123
7PHEXNM_000444.5(PHEX): c.1664T> C (p.Leu555Pro)single nucleotide variantPathogenicrs137853270GRCh37Chr X, 22231039: 22231039
8PHEXPHEX, A-G, NT-429single nucleotide variantPathogenic
9PHEXPHEX, IVS7, +1268, G-Tsingle nucleotide variantPathogenic
10PHEXNM_000444.5(PHEX): c.1699C> T (p.Arg567Ter)single nucleotide variantPathogenicrs137853271GRCh37Chr X, 22231074: 22231074
11PHEXPHEX, IVS4, T-C, +6single nucleotide variantPathogenic
12CLCN5NM_001127899.3(CLCN5): c.941C> T (p.Ser314Leu)single nucleotide variantPathogenicrs151340626GRCh37Chr X, 49850644: 49850644
13PHEXNM_000444.5(PHEX): c.1404+2T> Gsingle nucleotide variantLikely pathogenicrs193922454GRCh37Chr X, 22151743: 22151743
14PHEXNM_000444.5(PHEX): c.1589G> A (p.Trp530Ter)single nucleotide variantLikely pathogenicrs193922455GRCh37Chr X, 22208563: 22208563
15PHEXNM_000444.5(PHEX): c.1949T> C (p.Leu650Pro)single nucleotide variantLikely pathogenicrs193922456GRCh37Chr X, 22244609: 22244609
16PHEXNM_000444.5(PHEX): c.1999G> T (p.Gly667Ter)single nucleotide variantLikely pathogenicrs193922457GRCh37Chr X, 22245657: 22245657
17PHEXNM_000444.5(PHEX): c.318G> A (p.Trp106Ter)single nucleotide variantLikely pathogenicrs193922458GRCh37Chr X, 22065298: 22065298
18PHEXNM_000444.5(PHEX): c.349+1G> Csingle nucleotide variantLikely pathogenicrs193922459GRCh37Chr X, 22065330: 22065330
19PHEXNM_000444.5(PHEX): c.884_885dupCC (p.Met296Profs)duplicationLikely pathogenicrs193922460GRCh37Chr X, 22115108: 22115109

Expression for genes affiliated with X-Linked Hypophosphatemia

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5FGF23, KL
2
Show member pathways
9.5FGF23, KL
3
Show member pathways
8.7SLC34A1, SLC34A3, CLCN5

Compounds for genes affiliated with X-Linked Hypophosphatemia

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

idCompoundScoreTop Affiliating Genes
1chloride449.2SLC34A1, CLCN5
2hydroxyapatite449.1FGF23, DMP1
3phosphorus448.9PHEX, SLC34A1, FGF23
41,25 dihydroxy vitamin d3448.8FGF23, SLC34A1, PHEX
5calcitriol44 61 24 1111.7FGF23, SLC34A1, PHEX
6vitamin d448.3DMP1, PHEX, SLC34A1, FGF23
7calcium44 50 24 119.9FGF23, DMP1, CLCN5, KL, PHEX, SLC34A3

GO Terms for genes affiliated with X-Linked Hypophosphatemia

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

idNameGO IDScoreTop Affiliating Genes
1integral component of plasma membraneGO:0058878.3SLC34A1, PHEX, KL, CLCN5

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:0900809.8KL, FGF23
2cellular phosphate ion homeostasisGO:0306439.7FGF23, SLC34A3
3phosphatidylinositol-mediated signalingGO:0480159.6KL, FGF23
4insulin receptor signaling pathwayGO:0082869.6KL, FGF23
5epidermal growth factor receptor signaling pathwayGO:0071739.5FGF23, KL
6phosphate ion homeostasisGO:0550629.5SLC34A1, FGF23
7fibroblast growth factor receptor signaling pathwayGO:0085439.4FGF23, KL
8phosphate ion transportGO:0068179.4SLC34A1, SLC34A3
9sodium ion transportGO:0068149.3SLC34A3, SLC34A1
10ossificationGO:0015039.2SLC34A1, DMP1
11Fc-epsilon receptor signaling pathwayGO:0380959.2KL, FGF23
12ion transportGO:0068119.1SLC34A3, SLC34A1
13transmembrane transportGO:0550858.9CLCN5, SLC34A3, SLC34A1

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

idNameGO IDScoreTop Affiliating Genes
1sodium-dependent phosphate transmembrane transporter activityGO:0153219.1SLC34A1, SLC34A3

Products for genes affiliated with X-Linked Hypophosphatemia

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  • Antibodies
  • Proteins
  • Lysates

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