XLHR
MCID: HYP609
MIFTS: 52

Hypophosphatemic Rickets, X-Linked Dominant (XLHR) malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Bone diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Hypophosphatemic Rickets, X-Linked Dominant

Aliases & Descriptions for Hypophosphatemic Rickets, X-Linked Dominant:

Name: Hypophosphatemic Rickets, X-Linked Dominant 54 50 24 66 13 69
X-Linked Hypophosphatemic Rickets 12 23 50 24 56 14
X-Linked Hypophosphatemia 38 12 23 50 24 56
Vitamin D-Resistant Rickets, X-Linked 12 50 69
Xlhr 23 24 66
Xlh 50 56 66
X-Linked Vitamin D-Resistant Rickets 23 24
Familial Hypophosphatemic Rickets 42 69
Hpdr 50 66
Hypophosphatemia, Vitamin D-Resistant Rickets 12
Hypophosphatemic Vitamin D-Resistant Rickets 66
Hypophophatemic Vitamin D-Resistant Rickets 50
Hypophosphatemic Rickets X-Linked Dominant 12
Vitamin D-Resistant Rickets X-Linked 66
Rickets, X-Linked Hypophosphatemic 69
Rickets, Vitamin D-Resistant 12
Vitamin D-Resistant Rickets 69
Hypophophatemia, X-Linked 50
Hypophosphatemia X-Linked 66
Hyp 66

Characteristics:

Orphanet epidemiological data:

56
x-linked hypophosphatemia
Inheritance: X-linked dominant; Age of onset: Childhood; Age of death: normal life expectancy;

GeneReviews:

23
hypophosphatemic rickets, x-linked dominant:
Onset and clinical course phenotypic variability
Inheritance x-linked dominant inheritance


GeneReviews:

23
Penetrance Despite a wide degree of clinical variability in xlh, penetrance is often said to be 100% by age one year [sabbagh et al 2014]. there is no known difference between penetrance in males and females...

Classifications:



External Ids:

OMIM 54 307800
Disease Ontology 12 DOID:0050445
MeSH 42 D053098
NCIt 47 C85234
Orphanet 56 ORPHA89936
ICD10 via Orphanet 34 E83.3
MedGen 40 C0733682

Summaries for Hypophosphatemic Rickets, X-Linked Dominant

NIH Rare Diseases : 50 x-linked hypophosphatemia (xlh) is an inherited disorder characterized by low levels of phosphate in the blood. phosphate levels are low because phosphate is abnormally processed in the kidneys, which causes a loss of phosphate in the urine (phosphate wasting) and leads to soft, weak bones (rickets). xlh is usually diagnosed in childhood. features include bowed or bent legs, short stature, bone pain, and severe dental pain. the condition is caused by mutations in the phex gene on the x chromosome, and is inherited in an x-linked dominant manner. treatment generally involves supplements of phosphate and high-dose calcitriol (the active form of vitamin d), and may also include growth hormones, corrective surgery, and dental treatment. with consistent treatment, the long term outlook (prognosis) is typically good, although growth rate may be slow and affected individuals are usually shorter than their peers.   last updated: 5/27/2016

MalaCards based summary : Hypophosphatemic Rickets, X-Linked Dominant, also known as x-linked hypophosphatemic rickets, is related to hypophosphatemic rickets and rickets, vitamin d-resistant, type iia, and has symptoms including bone pain, joint dislocation and osteoarthritis. An important gene associated with Hypophosphatemic Rickets, X-Linked Dominant is PHEX (Phosphate Regulating Endopeptidase Homolog, X-Linked), and among its related pathways/superpathways are Endocrine and other factor-regulated calcium reabsorption and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. The drugs Ergocalciferol and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include Kidney, bone and kidney, and related phenotypes are growth/size/body region and homeostasis/metabolism

UniProtKB/Swiss-Prot : 66 Hypophosphatemic rickets, X-linked dominant: A disorder characterized by impaired phosphate uptake in the kidney, which is likely to be caused by abnormal regulation of sodium phosphate cotransport in the proximal tubules. Clinical manifestations include skeletal deformities, growth failure, craniosynostosis, paravertebral calcifications, pseudofractures in lower extremities, and muscular hypotonia with onset in early childhood. X-linked hypophosphatemic rickets is the most common form of hypophosphatemia with an incidence of 1 in 20000.

OMIM : 54 X-linked dominant hypophosphatemic rickets, although variable in its expressivity, is characterized by rickets with... (307800) more...

Disease Ontology : 12 A rickets that results has_material_basis in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization.

Wikipedia : 71 X-linked hypophosphatemia (XLH), also called X-linked dominant hypophosphatemic rickets, X-linked... more...

GeneReviews: NBK83985

Related Diseases for Hypophosphatemic Rickets, X-Linked Dominant

Diseases related to Hypophosphatemic Rickets, X-Linked Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
id Related Disease Score Top Affiliating Genes
1 hypophosphatemic rickets 11.5
2 rickets, vitamin d-resistant, type iia 11.3
3 hereditary hypophosphatemic rickets 11.3
4 hypophosphatemia 10.8
5 hypophosphatemic rickets, autosomal dominant 10.8
6 wiedemann-steiner syndrome 10.2 FGF23 PHEX
7 rickets 10.2
8 familial atrial fibrillation 10.2 FGF23 PHEX
9 ventricular tachycardia, catecholaminergic polymorphic, 3 10.2 DMP1 FGF23
10 maroteaux stanescu cousin syndrome 10.1 FGF23 PHEX
11 osteomalacia 10.1
12 nephrocalcinosis 10.1
13 enthesopathy 10.1
14 achalasia-addisonianism-alacrimia syndrome 10.1 CYP27B1 VDR
15 acute maxillary sinusitis 10.1 DMP1 FGF23 PHEX
16 keratoderma with woolly hair 10.1 SLC34A1 SLC34A3
17 deafness, nonsyndromic, modifier 1 10.1 SLC34A3 VDR
18 x-linked hereditary ataxia 10.1 DMP1 FGF23 PHEX
19 oligospermia 10.1 FGF23 KL
20 oncogenic osteomalacia 10.1
21 donnai-barrow syndrome 10.1 FGF23 KL
22 prediabetes syndrome 10.1 FGF23 PTH
23 toenail dystrophy, isolated 10.1 FGF23 PTH
24 tinea unguium 10.1 FGF23 PTH VDR
25 opioid abuse 10.0 FGF23 PTH VDR
26 parathyroid carcinoma 10.0 FGF23 PTH VDR
27 feigenbaum bergeron richardson syndrome 10.0 FGF23 KL PHEX
28 childhood absence epilepsy 10.0 FGF23 KL PHEX
29 y chromosome detection 10.0 CYP27B1 PTH VDR
30 waardenburg syndrome, type 4b 10.0 PTH SLC34A1 VDR
31 hyperparathyroidism 10.0
32 periodontitis 10.0
33 newborn respiratory distress syndrome 10.0 SLC34A1 SLC34A3 VDR
34 interstitial nephritis 9.9 PTH SLC34A1
35 osteochondrodysplasia 9.9 KL PTH VDR
36 acrorenal syndrome 9.9 PTH VDR
37 calcinosis 9.9 FGF23 KL PTH
38 pes anserinus tendinitis or bursitis 9.9 CYP27B1 FGF23 PTH VDR
39 chronic myocardial ischemia 9.9 CYP27B1 FGF23 PTH VDR
40 joubert syndrome 9 9.8 FGF23 PTH SLC34A1 SLC34A3
41 osteogenesis imperfecta 9.8
42 hypophosphatasia 9.8
43 paraplegia 9.8
44 dwarfism 9.8
45 marfan syndrome 9.8
46 renal tubular acidosis 9.8
47 fibrous dysplasia 9.8
48 peroxisome biogenesis disorder 2b 9.8 FGF23 PHEX SFRP4 SLC34A3
49 lymphangioleiomyomatosis 9.8 DMP1 FGF23 PHEX SLC34A1 SLC34A3
50 orbit lymphoma 9.8 CYP27B1 FGF23 KL PTH

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



Diseases related to Hypophosphatemic Rickets, X-Linked Dominant

Symptoms & Phenotypes for Hypophosphatemic Rickets, X-Linked Dominant

Symptoms by clinical synopsis from OMIM:

307800

Clinical features from OMIM:

307800

Human phenotypes related to Hypophosphatemic Rickets, X-Linked Dominant:

56 32 (show all 35)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bone pain 56 32 Very frequent (99-80%) HP:0002653
2 joint dislocation 56 32 Very frequent (99-80%) HP:0001373
3 osteoarthritis 56 32 Frequent (79-30%) HP:0002758
4 hearing impairment 56 32 Occasional (29-5%) HP:0000365
5 short stature 56 32 Frequent (79-30%) HP:0004322
6 hypophosphatemia 56 32 Very frequent (99-80%) HP:0002148
7 rickets 56 32 Very frequent (99-80%) HP:0002748
8 abnormality of the metaphyses 56 32 Very frequent (99-80%) HP:0000944
9 abnormality of dental enamel 56 32 Very frequent (99-80%) HP:0000682
10 genu varum 56 32 Very frequent (99-80%) HP:0002970
11 osteomalacia 56 32 Very frequent (99-80%) HP:0002749
12 recurrent fractures 56 32 Occasional (29-5%) HP:0002757
13 craniosynostosis 56 32 Frequent (79-30%) HP:0001363
14 bowing of the legs 56 32 Very frequent (99-80%) HP:0002979
15 enthesitis 56 32 Frequent (79-30%) HP:0100686
16 rachitic rosary 56 32 Very frequent (99-80%) HP:0000897
17 arthralgia 32 HP:0002829
18 frontal bossing 32 HP:0002007
19 abnormality of the teeth 56 Very frequent (99-80%)
20 renal tubular dysfunction 32 HP:0000124
21 elevated circulating parathyroid hormone level 32 HP:0003165
22 spinal canal stenosis 32 HP:0003416
23 abnormality of pelvic girdle bone morphology 32 HP:0002644
24 femoral bowing 32 HP:0002980
25 elevated alkaline phosphatase 32 HP:0003155
26 tibial bowing 32 HP:0002982
27 spinal cord compression 32 HP:0002176
28 hypophosphatemic rickets 32 HP:0004912
29 fibular bowing 32 HP:0010502
30 renal phosphate wasting 32 HP:0000117
31 metaphyseal irregularity 32 HP:0003025
32 hypomineralization of enamel 32 HP:0006285
33 trapezoidal distal femoral condyles 32 HP:0006432
34 shortening of the talar neck 32 HP:0008117
35 flattening of the talar dome 32 HP:0008144

UMLS symptoms related to Hypophosphatemic Rickets, X-Linked Dominant:


arthralgia, bone pain

MGI Mouse Phenotypes related to Hypophosphatemic Rickets, X-Linked Dominant:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.13 PTH SFRP4 SLC34A1 SLC34A3 VDR CYP27B1
2 homeostasis/metabolism MP:0005376 10.07 CYP27B1 DMP1 FGF23 KL PHEX PTH
3 cardiovascular system MP:0005385 10.04 CYP27B1 DMP1 FGF23 KL PTH SFRP4
4 hematopoietic system MP:0005397 10.01 CYP27B1 DMP1 FGF23 KL PHEX PTH
5 digestive/alimentary MP:0005381 9.93 FGF23 KL PHEX SFRP4 SLC34A3 VDR
6 immune system MP:0005387 9.92 CYP27B1 KL PHEX PTH SFRP4 VDR
7 craniofacial MP:0005382 9.88 CYP27B1 DMP1 PHEX PTH VDR
8 limbs/digits/tail MP:0005371 9.86 CYP27B1 DMP1 FGF23 KL PHEX PTH
9 renal/urinary system MP:0005367 9.81 PHEX SFRP4 SLC34A1 SLC34A3 VDR CYP27B1
10 reproductive system MP:0005389 9.43 CYP27B1 FGF23 KL SFRP4 SLC34A1 VDR
11 skeleton MP:0005390 9.32 CYP27B1 DMP1 FGF23 KL PHEX PTH

Drugs & Therapeutics for Hypophosphatemic Rickets, X-Linked Dominant

Drugs for Hypophosphatemic Rickets, X-Linked Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ergocalciferol Approved, Nutraceutical Phase 3 50-14-6 5280793
2 Hormone Antagonists Phase 3,Phase 1,Phase 2
3 Hormones Phase 3,Phase 1,Phase 2
4 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1,Phase 2
5 vitamin d Phase 3
6 Mitogens Phase 3,Phase 2,Phase 1
7 Trace Elements Phase 3
8 Ergocalciferols Phase 3
9 Vitamins Phase 3
10 Micronutrients Phase 3
11 Bone Density Conservation Agents Phase 3
12 Immunoglobulin G Phase 3,Phase 2
13 Immunoglobulins Phase 3,Phase 2
14 Antibodies, Monoclonal Phase 3,Phase 2
15 Antibodies Phase 3,Phase 2
16 Vitamin D2 Nutraceutical Phase 3
17 Calciferol Nutraceutical Phase 3
18 potassium phosphate Phase 1, Phase 2
19 Calcium, Dietary Phase 1, Phase 2
20 Phosphorus Supplement Nutraceutical Phase 1, Phase 2
21 Cinacalcet Hydrochloride Phase 1
22 Calcimimetic Agents Phase 1
23
Salmon Calcitonin Approved, Investigational 47931-85-1 16129616
24
Iron Approved 7439-89-6 23925
25
Teriparatide Approved, Investigational 52232-67-4 16133850
26
Sevelamer Approved 52757-95-6, 152751-57-0 3085017
27
Calcitriol Approved, Nutraceutical 32222-06-3 134070 5280453
28
Alfacalcidol Approved, Nutraceutical 41294-56-8 5282181
29 Calcitonin Gene-Related Peptide
30 calcitonin
31 Cholinergic Agents
32 Neurotransmitter Agents
33 Peripheral Nervous System Agents
34 Vasodilator Agents
35 Respiratory System Agents
36 Methacholine Chloride
37 Autonomic Agents
38 glucocorticoids
39 Hematinics
40 Ferrous gluconate
41 Chelating Agents
42 Hydroxycholecalciferols
43 Iron Supplement Nutraceutical

Interventional clinical trials:

(show all 26)
id Name Status NCT ID Phase
1 The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone Formers Unknown status NCT01526304 Phase 4
2 Therapeutic Use of Oral Sodium Phosphate (Z-521) in Primary Hypophosphatemic Rickets Completed NCT01237288 Phase 3
3 Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets Completed NCT00417612 Phase 3
4 Efficacy and Safety of KRN23 Versus Oral Phosphate and Active Vitamin D Treatment in Pediatric Patients With X Linked Hypophosphatemia (XLH) Recruiting NCT02915705 Phase 3
5 Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02526160 Phase 3
6 Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02537431 Phase 3
7 An Extension Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01571596 Phase 1, Phase 2
8 A Repeated Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01340482 Phase 1, Phase 2
9 Growth Hormone Treatment in Children With Hypophosphatemic Rickets Completed NCT02720770 Phase 1, Phase 2
10 Role Of Phosphorus And FGF 23 In Patients With Dent Disease Recruiting NCT02016235 Phase 1, Phase 2
11 Study of KRN23, a Recombinant Fully Human Monoclonal Antibody Against FGF23, in Pediatric Subjects With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02163577 Phase 2
12 Study of the Safety, Pharmacodynamics and Efficacy of KRN23 in Children From 1 to 4 Years Old With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02750618 Phase 2
13 Long-Term Extension Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH) Enrolling by invitation NCT02312687 Phase 2
14 Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic Rickets Unknown status NCT00195936 Phase 1
15 Effects of GH on Body Proportions and Final Height in X-Linked Hypophosphatemic Rickets Unknown status NCT00473187 Phase 1
16 A Study of KRN23 in X-linked Hypophosphatemia Completed NCT00830674 Phase 1
17 A Study of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/Osteomalacia Completed NCT02181764 Phase 1
18 Cinacalcet for Fibroblast Growth Factor 23 (FGF23)-Mediated Hypophosphatemia (Hypophosphatemic Rickets) Terminated NCT01748812 Phase 1
19 Calcimimetics in Hypophosphatemic Rickets Unknown status NCT00844740
20 Calcitonin for Treating X-linked Hypophosphatemia Completed NCT01652573
21 Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent Patients Completed NCT01578824
22 Serum FGF-23 and Vitamin D Deficiency Completed NCT01102751
23 Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Project. Recruiting NCT02233322
24 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Recruiting NCT01660308
25 Study of the Diagnostic Value of Stable Calcium Isotope Profiling in Bone and Calcium Disorders Recruiting NCT02252679
26 Hypophosphatemic Rickets in Norway Active, not recruiting NCT01057186

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

Cochrane evidence based reviews: familial hypophosphatemic rickets

Genetic Tests for Hypophosphatemic Rickets, X-Linked Dominant

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

id Genetic test Affiliating Genes
1 Hypophosphatemic Rickets, X-Linked Dominant 24 PHEX
2 X-Linked Hypophosphatemia 24 PHEX

Anatomical Context for Hypophosphatemic Rickets, X-Linked Dominant

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

39
Bone, Kidney, 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 Tissue Anatomical CompartmentCell Relevance
1 Kidney Proximal Tubule Proximal Tubule Cells Potential therapeutic candidate, affected by disease

Publications for Hypophosphatemic Rickets, X-Linked Dominant

Variations for Hypophosphatemic Rickets, X-Linked Dominant

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

66 (show all 30)
id Symbol AA change Variation ID SNP ID
1 PHEX p.Cys77Ser VAR_006738
2 PHEX p.Cys85Tyr VAR_006739 rs137853269
3 PHEX p.Leu138Pro VAR_006740
4 PHEX p.Arg166Cys VAR_006741 rs751230094
5 PHEX p.Phe252Ser VAR_006742 rs267606945
6 PHEX p.Met253Ile VAR_006743 rs267606946
7 PHEX p.Pro534Leu VAR_006744
8 PHEX p.Gly579Arg VAR_006745
9 PHEX p.Gly579Val VAR_006746
10 PHEX p.Phe80Ser VAR_010616
11 PHEX p.Cys85Phe VAR_010617
12 PHEX p.Cys85Arg VAR_010618
13 PHEX p.Ser141Pro VAR_010619
14 PHEX p.Cys142Phe VAR_010620
15 PHEX p.Leu160Arg VAR_010621
16 PHEX p.Asp237Gly VAR_010622
17 PHEX p.Tyr317Phe VAR_010623
18 PHEX p.Trp530Cys VAR_010626
19 PHEX p.Leu555Pro VAR_010627 rs137853270
20 PHEX p.Arg567Pro VAR_010628
21 PHEX p.Ala573Asp VAR_010629
22 PHEX p.Gln621Arg VAR_010630
23 PHEX p.Arg651Pro VAR_010631
24 PHEX p.Asn680Lys VAR_010633
25 PHEX p.Cys693Tyr VAR_010634
26 PHEX p.Ala720Thr VAR_010635
27 PHEX p.Phe731Tyr VAR_010636
28 PHEX p.Cys733Ser VAR_010637
29 PHEX p.Cys746Trp VAR_010638
30 PHEX p.Trp749Arg VAR_010639

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

6 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1 PHEX PHEX, 2-BP DEL, 675TC deletion Pathogenic
2 PHEX PHEX, IVS1AS, G-A, -1 single nucleotide variant Pathogenic
3 PHEX PHEX, IVS1AS, G-C, -1 single nucleotide variant Pathogenic
4 PHEX NM_000444.5(PHEX): c.830T> A (p.Leu277Ter) single nucleotide variant Pathogenic rs137853268 GRCh37 Chromosome X, 22112198: 22112198
5 PHEX NM_000444.5(PHEX): c.254G> A (p.Cys85Tyr) single nucleotide variant Pathogenic rs137853269 GRCh37 Chromosome X, 22065234: 22065234
6 PHEX NM_000444.5(PHEX): c.1664T> C (p.Leu555Pro) single nucleotide variant Pathogenic rs137853270 GRCh37 Chromosome X, 22231039: 22231039
7 PHEX PHEX, A-G, NT-429 single nucleotide variant Pathogenic
8 PHEX PHEX, IVS7, +1268, G-T single nucleotide variant Pathogenic
9 PHEX NM_000444.5(PHEX): c.1699C> T (p.Arg567Ter) single nucleotide variant Pathogenic rs137853271 GRCh37 Chromosome X, 22231074: 22231074
10 PHEX PHEX, IVS4, T-C, +6 single nucleotide variant Pathogenic
11 PHEX NM_000444.5(PHEX): c.1404+2T> G single nucleotide variant Likely pathogenic rs193922454 GRCh37 Chromosome X, 22151743: 22151743
12 PHEX NM_000444.5(PHEX): c.1589G> A (p.Trp530Ter) single nucleotide variant Likely pathogenic rs193922455 GRCh37 Chromosome X, 22208563: 22208563
13 PHEX NM_000444.5(PHEX): c.1949T> C (p.Leu650Pro) single nucleotide variant Likely pathogenic rs193922456 GRCh37 Chromosome X, 22244609: 22244609
14 PHEX NM_000444.5(PHEX): c.1999G> T (p.Gly667Ter) single nucleotide variant Likely pathogenic rs193922457 GRCh37 Chromosome X, 22245657: 22245657
15 PHEX NM_000444.5(PHEX): c.318G> A (p.Trp106Ter) single nucleotide variant Likely pathogenic rs193922458 GRCh37 Chromosome X, 22065298: 22065298
16 PHEX NM_000444.5(PHEX): c.349+1G> C single nucleotide variant Likely pathogenic rs193922459 GRCh37 Chromosome X, 22065330: 22065330
17 PHEX NM_000444.5(PHEX): c.884_885dupCC (p.Met296Profs) duplication Likely pathogenic rs193922460 GRCh37 Chromosome X, 22115107: 22115108
18 PHEX NM_000444.5(PHEX): c.1735G> A (p.Gly579Arg) single nucleotide variant Pathogenic/Likely pathogenic rs875989883 GRCh37 Chromosome X, 22237187: 22237187
19 PHEX NM_000444.5(PHEX): c.67delC (p.Leu23Trpfs) deletion Pathogenic rs886043584 GRCh38 Chromosome X, 22033072: 22033072

Expression for Hypophosphatemic Rickets, X-Linked Dominant

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

Pathways for Hypophosphatemic Rickets, X-Linked Dominant

GO Terms for Hypophosphatemic Rickets, X-Linked Dominant

Cellular components related to Hypophosphatemic Rickets, X-Linked Dominant according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 brush border membrane GO:0031526 8.96 SLC34A1 SLC34A3
2 apical plasma membrane GO:0016324 8.8 KL SLC34A1 SLC34A3

Biological processes related to Hypophosphatemic Rickets, X-Linked Dominant according to GeneCards Suite gene sharing:

(show all 28)
id Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.81 DMP1 FGF23 SLC34A1
2 skeletal system development GO:0001501 9.75 PHEX PTH VDR
3 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.64 FGF23 KL
4 bone mineralization GO:0030282 9.63 CYP27B1 PHEX
5 positive regulation of bone mineralization GO:0030501 9.62 KL PTH
6 biomineral tissue development GO:0031214 9.62 DMP1 PHEX
7 response to cadmium ion GO:0046686 9.61 PTH SLC34A1
8 calcium ion homeostasis GO:0055074 9.61 CYP27B1 KL
9 decidualization GO:0046697 9.6 CYP27B1 VDR
10 regulation of bone mineralization GO:0030500 9.59 CYP27B1 FGF23
11 phosphate ion transmembrane transport GO:0035435 9.58 SLC34A1 SLC34A3
12 response to lead ion GO:0010288 9.57 PTH SLC34A1
13 positive regulation of keratinocyte differentiation GO:0045618 9.56 CYP27B1 VDR
14 response to magnesium ion GO:0032026 9.55 FGF23 SLC34A1
15 response to growth hormone GO:0060416 9.54 PHEX SLC34A1
16 cellular response to vitamin D GO:0071305 9.52 FGF23 PHEX
17 vitamin D metabolic process GO:0042359 9.51 CYP27B1 FGF23
18 response to vitamin D GO:0033280 9.5 CYP27B1 PHEX PTH
19 phosphate ion transport GO:0006817 9.49 SLC34A1 SLC34A3
20 sodium-dependent phosphate transport GO:0044341 9.48 SLC34A1 SLC34A3
21 response to parathyroid hormone GO:0071107 9.46 PTH SLC34A1
22 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.43 FGF23 KL
23 cellular phosphate ion homeostasis GO:0030643 9.43 FGF23 SLC34A1 SLC34A3
24 vitamin D catabolic process GO:0042369 9.4 CYP27B1 FGF23
25 response to sodium phosphate GO:1904383 9.37 FGF23 PHEX
26 cellular response to parathyroid hormone stimulus GO:0071374 9.33 FGF23 PHEX SLC34A1
27 phosphate ion homeostasis GO:0055062 9.13 FGF23 SFRP4 SLC34A1
28 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 8.8 CYP27B1 FGF23 VDR

Molecular functions related to Hypophosphatemic Rickets, X-Linked Dominant according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 1-phosphatidylinositol-3-kinase activity GO:0016303 9.26 FGF23 KL
2 fibroblast growth factor receptor binding GO:0005104 9.16 FGF23 KL
3 sodium:phosphate symporter activity GO:0005436 8.96 SLC34A1 SLC34A3
4 sodium-dependent phosphate transmembrane transporter activity GO:0015321 8.62 SLC34A1 SLC34A3

Sources for Hypophosphatemic Rickets, X-Linked Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....