HYP
MCID: XLN002
MIFTS: 49

X-Linked Hypophosphatemia (HYP) malady

Nephrological, Bone, Endocrine, Fetal, Genetic categories

Summaries for X-Linked Hypophosphatemia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:43 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 osteoarthritis, joint/articular deformation and osteoporosis/osteopenia/demineralisation/osteomalacia/rickets. 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. 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:64 X-linked hypophosphatemia (XLH), also called X-linked dominant hypophosphatemic rickets, X-linked... more...

Description from OMIM:47 613312,307800,241520,193100,300554

GeneReviews summary for rickets-xlh

Aliases & Classifications for X-Linked Hypophosphatemia

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Genetic
Anatomical: Nephrological, Bone, Endocrine


Characteristics (Orphanet epidemiological data):

49
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 49
hypophosphatemic rickets 9 43 20 47
hypophosphatemia, vitamin d-resistant rickets 8 43
hypophosphatemic rickets, x-linked dominant 9 47
vitamin d-resistant rickets, x-linked 8 43
x-linked hypophosphatemic rickets 19 49
hypophosphatemia, x-linked 43 20
xlh 43 49
hypophosphatemic rickets x-linked dominant 8
familial hypophosphatemic bone disease 61
x-linked vitamin d-resistant rickets 19
rickets, vitamin d-resistant 8
rickets, hypophosphatemic 8
rickets hypophosphatemic 45
xlhr 19
hyp 43


External Ids:

Disease Ontology8 DOID:0050445
MeSH35 D053098
ICD10 via Orphanet26 E83.3

Related Diseases for X-Linked Hypophosphatemia

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 128)
idRelated DiseaseScoreTop Affiliating Genes
1hypophosphatemia31.6ALPPL2, ALPP, ALPL, PTH, SLC34A3, SLC34A1
2rickets30.7BGLAP, CYP27B1, PTH, ALPP
3nephrocalcinosis30.7PHEX, CLCN5, SLC34A1, SLC34A3
4osteomalacia30.6ALPL, PTH, SLC34A3, FGF23, CYP27B1, EMP1
5hypophosphatemic rickets with hypercalciuria30.5SLC34A3
6mccune albright syndrome30.4FGF23
7nephrolithiasis30.4PTH, SLC34A3, SLC34A1, CLCN5, FGF23, EMP1
8hypophosphatasia30.2ALPL, ALPP, ALPPL2
9hypophosphatemic rickets, autosomal dominant30.2PHEX, MEPE, FGF23
10hyperphosphatemic familial tumoral calcinosis30.2FGF23, GALNT3
11aminoaciduria30.2CLCN5
12osteogenesis imperfecta30.1BGLAP, ALPL, ALPP, ALPPL2
13fibrous dysplasia30.1BGLAP, GH1, FGF23, ALPL, ALPP, ALPPL2
14osteoporosis30.1ALPL, PTH, FGF23, CYP27B1, GH1, MEPE
15hyperphosphatemia29.9KL, ALPPL2, ALPP, ALPL, PTH, SLC34A1
16rickets, vitamin d-resistant, type iia10.5
17n syndrome10.5
18hypophosphatemic rickets, ar10.5
19hypophosphatemic rickets, autosomal recessive 210.5
20epidermal nevus10.5
21hereditary hypophosphatemic rickets10.4
22oncogenic osteomalacia10.4
23fanconi syndrome10.4
24synostosis10.3
25dent's disease10.3
26mccune–albright syndrome10.3
27toni-fanconi syndrome10.3
28hypophosphatemic rickets, autosomal recessive 110.3
29hereditary hypophosphatemic rickets with hypercalciuria10.3
30vitamin d-dependent rickets type i10.3
31hypophosphatemic rickets and hyperparathyroidism10.3
32renal tubular acidosis10.2
33autosomal dominant disease10.2
34dwarfism10.2
35osteomalacia, tumor-induced10.2
36aggressive periodontitis10.1
37klinefelter's syndrome10.1
38osteopetrosis10.1
39kallmann syndrome10.1
40tyrosinemia type i10.1
41familial glucocorticoid deficiency10.1
42young syndrome10.1
43bod syndrome10.1
44mitochondrial complex i deficiency10.1
45precocious puberty10.1
46fanconi bickel syndrome10.1
47linear nevus sebaceous syndrome10.1
48opsismodysplasia10.1
49phacomatosis pigmentokeratotica10.1
50central precocious puberty10.1

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



Diseases related to x-linked hypophosphatemia

Clinical Features for X-Linked Hypophosphatemia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

613312,307800,241520,193100,300554

Clinical synopsis from OMIM:

300554

Symptoms:

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

Drugs & Therapeutics for X-Linked Hypophosphatemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

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

Sources:
31LifeMap Discovery™
See all sources

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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for X-Linked Hypophosphatemia

Sources:
51PubMed
See all sources

Articles related to X-Linked Hypophosphatemia:

idTitleAuthorsYear
1
X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22. (3015771)
1986

Genetic Variations for X-Linked Hypophosphatemia

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for X-Linked Hypophosphatemia:

63 (show all 31)
id Symbol AA change Variation 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

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

Sources:
54Reactome, 38NCBI BioSystems Database, 12EMD Millipore, 30KEGG
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

Sources:
45Novoseek, 11DrugBank, 60Tocris Bioscience, 29IUPHAR, 24HMDB, 50PharmGKB, 2BitterDB
See all sources

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

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1paricalcitol45 1111.2CYP27B1, PTH
2procollagen4510.1ALPP
3sevelamer4510.0FGF23, BGLAP
4alfacalcidol45 60 1111.9BGLAP, CYP27B1
5amifostine45 1110.8ALPPL2, ALPL
6cysteine459.7ALPL, FGF1, CYP27B1
7heparin45 29 11 2412.6FGF23, GH1, BGLAP
8phosphoethanolamine459.6ALPL, ALPP
9cycloheximide459.6ALPP, PTH
107,8-dihydroneopterin45 2410.4ALPPL2, ALPP, ALPL
11dihydroneopterin triphosphate45 2410.4ALPL, ALPP, ALPPL2
12dihydroxyacetone45 2410.4ALPL, ALPP, ALPPL2
13ipriflavone459.4ALPP, BGLAP
14levamisole45 1110.4ALPPL2, ALPP, ALPL
15tio2459.4ALPP, BGLAP
1622-oxacalcitriol459.3BGLAP, ALPP
17etidronate459.2BGLAP, ALPP
18estrone45 29 11 2412.2BGLAP, GH1, PTH
1924,25-dihydroxyvitamin d3459.2BGLAP, CYP27B1, ALPP
20calcium carbonate459.2BGLAP, PTH, ALPP
21pamidronate45 50 1111.2BGLAP, PTH, ALPP
22ibmx45 29 6011.2ALPP, PTH, FGF1, GH1
23alizarin459.1ALPP, ALPL, BGLAP
24pyridinoline459.1ALPP, GH1, BGLAP
25chloramphenicol45 2 1111.1ALPP, FGF1, CYP27B1, GH1
26hydroxyproline45 11 2411.1BGLAP, PTH, ALPP
27fluoride459.1BGLAP, GH1, ALPP
28vitamin k2459.0ALPP, BGLAP
29guanidine hydrochloride459.0BGLAP, FGF1, ALPP
30deoxypyridinoline458.9ALPP, PTH, GH1, BGLAP
31alendronate45 50 1110.9BGLAP, GH1, PTH, ALPP
32thyroxine45 249.9BGLAP, GH1, PTH, ALPP
33hydrocortisone45 2 60 1111.8BGLAP, GH1, FGF1, ALPP
34creatinine458.8BGLAP, FGF23, CLCN5, PTH, ALPP
3525-hydroxyvitamin d458.8BGLAP, CYP27B1, FGF23, PTH, ALPP
36hydroxyapatite458.8BGLAP, DMP1, FGF23, ALPL, ALPP
37tartrate458.7ALPP, BGLAP
38aspartate458.6BGLAP, PHEX, GH1, ALPL, ALPP
39tamoxifen45 50 29 1111.6BGLAP, GH1, FGF1, PTH, ALPP
40phosphorus458.4BGLAP, PHEX, CYP27B1, FGF23, SLC34A1, PTH
41arginine458.3BGLAP, GH1, FGF1, FGF23, PTH, ALPP
42h2o2458.3BGLAP, GH1, FGF1, CLCN5, ALPP
43testosterone45 60 11 2411.3BGLAP, GH1, CYP27B1, FGF1, PTH, ALPP
44vegf458.3KL, BGLAP, GH1, FGF1, PTH, ALPP
45paraffin458.2BGLAP, GH1, CYP27B1, FGF1, ALPP, ALPPL2
461,25 dihydroxy vitamin d3458.1BGLAP, PHEX, GH1, CYP27B1, FGF23, SLC34A1
47retinoic acid45 249.0BGLAP, GH1, CYP27B1, FGF1, ALPL, ALPP
48calcitriol45 60 11 2410.7BGLAP, PHEX, MEPE, GH1, CYP27B1, FGF23
49vitamin d457.6ALPP, BGLAP, PHEX, DMP1, GH1, CYP27B1
50calcium45 50 11 249.5DMP1, PHEX, GALNT3, GALNT8, BGLAP, KL

GO Terms for genes affiliated with X-Linked Hypophosphatemia

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for X-Linked 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