MCID: HYP609
MIFTS: 32

Hypophosphatemic Rickets, X-Linked Dominant malady

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

Aliases & Classifications for Hypophosphatemic Rickets, X-Linked Dominant

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Sources:
45OMIM, 30LifeMap Discovery®, 9Disease Ontology, 10diseasecard, 19GeneReviews, 20GeneTests, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 33MeSH, 26ICD10 via Orphanet
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Hypophosphatemic Rickets, X-Linked Dominant, Aliases & Descriptions:

Name: Hypophosphatemic Rickets, X-Linked Dominant 45 10 60
X-Linked Hypophosphatemia 30 9 19 11 47
Vitamin D-Resistant Rickets, X-Linked 9 60
Rickets, Hypophosphatemic 9 20
Hypophosphatemia, Vitamin D-Resistant Rickets 9
Hypophosphatemic Rickets X-Linked Dominant 9
Rickets, X-Linked Hypophosphatemic 60
 
Familial Hypophosphatemic Rickets 60
X-Linked Hypophosphatemic Rickets 47
Rickets, Vitamin D-Resistant 9
Hypophosphatemia, X-Linked 20
Rickets Hypophosphatemic 43
Xlh 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
x-linked hypophosphatemia:
Inheritance: X-linked dominant; Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

OMIM45 307800
Disease Ontology9 DOID:0050445
MeSH33 D053098
Orphanet47 89936
ICD10 via Orphanet26 E83.3

Summaries for Hypophosphatemic Rickets, X-Linked Dominant

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OMIM:45 X-linked dominant hypophosphatemic rickets, although variable in its expressivity, is characterized by rickets with... (307800) more...

MalaCards based summary: Hypophosphatemic Rickets, X-Linked Dominant, also known as x-linked hypophosphatemia, is related to hypophosphatemia and rickets, vitamin d-resistant, type iia, and has symptoms including abnormality of dental enamel, abnormality of the metaphyses and hypophosphatemia. An important gene associated with Hypophosphatemic Rickets, X-Linked Dominant is PHEX (phosphate regulating endopeptidase homolog, X-linked). Affiliated tissues include bone and spinal cord.

Disease Ontology:9 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.

GeneReviews summary for rickets-xlh

Related Diseases for Hypophosphatemic Rickets, X-Linked Dominant

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Graphical network of the top 20 diseases related to Hypophosphatemic Rickets, X-Linked Dominant:



Diseases related to hypophosphatemic rickets, x-linked dominant

Symptoms for Hypophosphatemic Rickets, X-Linked Dominant

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Symptoms by clinical synopsis from OMIM:

307800

Clinical features from OMIM:

307800

Symptoms:

 47 (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 Hypophosphatemic Rickets, X-Linked Dominant:

(show all 39)
id Description Frequency HPO Source Accession
1 abnormality of dental enamel hallmark (90%) HP:0000682
2 abnormality of the metaphyses hallmark (90%) HP:0000944
3 hypophosphatemia hallmark (90%) HP:0002148
4 bone pain hallmark (90%) HP:0002653
5 genu varum hallmark (90%) HP:0002970
6 reduced bone mineral density hallmark (90%) HP:0004349
7 premature loss of teeth hallmark (90%) HP:0006480
8 osteoarthritis typical (50%) HP:0002758
9 short stature typical (50%) HP:0004322
10 craniofacial hyperostosis typical (50%) HP:0004493
11 enthesitis typical (50%) HP:0100686
12 hearing impairment occasional (7.5%) HP:0000365
13 recurrent fractures occasional (7.5%) HP:0002757
14 renal phosphate wasting HP:0000117
15 renal tubular dysfunction HP:0000124
16 x-linked dominant inheritance HP:0001423
17 frontal bossing HP:0002007
18 hypophosphatemia HP:0002148
19 spinal cord compression HP:0002176
20 abnormality of pelvic girdle bone morphology HP:0002644
21 bone pain HP:0002653
22 osteomalacia HP:0002749
23 osteoarthritis HP:0002758
24 arthralgia HP:0002829
25 bowing of the legs HP:0002979
26 femoral bowing HP:0002980
27 tibial bowing HP:0002982
28 metaphyseal irregularity HP:0003025
29 elevated alkaline phosphatase HP:0003155
30 elevated circulating parathyroid hormone (pth) level HP:0003165
31 spinal canal stenosis HP:0003416
32 phenotypic variability HP:0003812
33 short stature HP:0004322
34 hypophosphatemic rickets HP:0004912
35 hypomineralization of enamel HP:0006285
36 trapezoidal distal femoral condyles HP:0006432
37 shortening of the talar neck HP:0008117
38 flattening of the talar dome HP:0008144
39 fibular bowing HP:0010502

Drugs & Therapeutics for Hypophosphatemic Rickets, X-Linked Dominant

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Drug clinical trials:

Search ClinicalTrials for Hypophosphatemic Rickets, X-Linked Dominant

Search NIH Clinical Center for Hypophosphatemic Rickets, X-Linked Dominant

Genetic Tests for Hypophosphatemic Rickets, X-Linked Dominant

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Genetic tests related to Hypophosphatemic Rickets, X-Linked Dominant:

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

Anatomical Context for Hypophosphatemic Rickets, X-Linked Dominant

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MalaCards organs/tissues related to Hypophosphatemic Rickets, X-Linked Dominant:

31
Bone, Spinal cord

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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

Animal Models for Hypophosphatemic Rickets, X-Linked Dominant or affiliated genes

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Publications for Hypophosphatemic Rickets, X-Linked Dominant

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Variations for Hypophosphatemic Rickets, X-Linked Dominant

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UniProtKB/Swiss-Prot genetic disease variations for Hypophosphatemic Rickets, X-Linked Dominant:

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

Clinvar genetic disease variations for Hypophosphatemic Rickets, X-Linked Dominant:

6 (show all 18)
id Gene Variation 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
12PHEXNM_000444.5(PHEX): c.1404+2T> Gsingle nucleotide variantLikely pathogenicrs193922454GRCh37Chr X, 22151743: 22151743
13PHEXNM_000444.5(PHEX): c.1589G> A (p.Trp530Ter)single nucleotide variantLikely pathogenicrs193922455GRCh37Chr X, 22208563: 22208563
14PHEXNM_000444.5(PHEX): c.1949T> C (p.Leu650Pro)single nucleotide variantLikely pathogenicrs193922456GRCh37Chr X, 22244609: 22244609
15PHEXNM_000444.5(PHEX): c.1999G> T (p.Gly667Ter)single nucleotide variantLikely pathogenicrs193922457GRCh37Chr X, 22245657: 22245657
16PHEXNM_000444.5(PHEX): c.318G> A (p.Trp106Ter)single nucleotide variantLikely pathogenicrs193922458GRCh37Chr X, 22065298: 22065298
17PHEXNM_000444.5(PHEX): c.349+1G> Csingle nucleotide variantLikely pathogenicrs193922459GRCh37Chr X, 22065330: 22065330
18PHEXNM_000444.5(PHEX): c.884_885dupCC (p.Met296Profs)duplicationLikely pathogenicrs193922460GRCh37Chr X, 22115108: 22115109

Expression for genes affiliated with Hypophosphatemic Rickets, X-Linked Dominant

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Search GEO for disease gene expression data for Hypophosphatemic Rickets, X-Linked Dominant.

Pathways for genes affiliated with Hypophosphatemic Rickets, X-Linked Dominant

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Compounds for genes affiliated with Hypophosphatemic Rickets, X-Linked Dominant

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GO Terms for genes affiliated with Hypophosphatemic Rickets, X-Linked Dominant

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Products for genes affiliated with Hypophosphatemic Rickets, X-Linked Dominant

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hypophosphatemic Rickets, X-Linked Dominant

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet