MCID: HYP609
MIFTS: 53

Hypophosphatemic Rickets, X-Linked Dominant

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

Aliases & Classifications for Hypophosphatemic Rickets, X-Linked Dominant

MalaCards integrated aliases for Hypophosphatemic Rickets, X-Linked Dominant:

Name: Hypophosphatemic Rickets, X-Linked Dominant 54 50 24 71 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 71
Xlh 50 56 71
X-Linked Vitamin D-Resistant Rickets 23 24
Familial Hypophosphatemic Rickets 42 69
Hpdr 50 71
Hypophosphatemia, Vitamin D-Resistant Rickets 12
Hypophosphatemic Vitamin D-Resistant Rickets 71
Hypophophatemic Vitamin D-Resistant Rickets 50
Hypophosphatemic Rickets X-Linked Dominant 12
Vitamin D-Resistant Rickets X-Linked 71
Rickets, X-Linked Hypophosphatemic 69
Rickets, Vitamin D-Resistant 12
Vitamin D-Resistant Rickets 69
Hypophophatemia, X-Linked 50
Hypophosphatemia X-Linked 71
Hyp 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Miscellaneous:
highly variable phenotype
onset by 1 year of age
in general, men have more severe disease than women
see also autosomal dominant hypophosphatemic rickets

Inheritance:
x-linked dominant


HPO:

32
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:



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 rickets, vitamin d-resistant, type iia and hypophosphatemic rickets, and has symptoms including short stature, genu varum and recurrent fractures. 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 Vitamin D 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 : 71 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 bone deformities, short stature, dental anomalies, and at the biologic level, hypophosphatemia with low renal phosphate reabsorption, normal serum calcium level with hypocalciuria, normal or low serum level of vitamin D (1,25(OH)2D3, or calcitriol), normal serum level of PTH, and increased activity of serum alkaline phosphatases (summary by Gaucher et al., 2009). (307800)

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 : 72 ped/1128... 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 66)
id Related Disease Score Top Affiliating Genes
1 rickets, vitamin d-resistant, type iia 12.3
2 hypophosphatemic rickets 10.9
3 hypophosphatemia 10.9
4 hypophosphatemic rickets, autosomal dominant 10.8
5 jacobsen syndrome 10.5 FGF23 PHEX
6 histiocytoid hemangioma 10.5 FGF23 VDR
7 colorectal cancer, hereditary nonpolyposis, type 4 10.4 DMP1 FGF23
8 atelosteogenesis 10.4 FGF23 PHEX
9 hypercalciuria, absorptive 10.3 SLC34A3 VDR
10 restless legs syndrome 1 10.3 CYP27B1 VDR
11 waardenburg syndrome, type 4b 10.3 PTH VDR
12 prediabetes syndrome 10.3 FGF23 PTH
13 acute maxillary sinusitis 10.2 DMP1 FGF23 PHEX
14 oligospermia 10.2 FGF23 KL
15 isolated duane retraction syndrome 10.2 SLC34A1 SLC34A3
16 spastic ataxia 10.2 DMP1 FGF23 PHEX
17 rickets 10.2
18 polyglucosan body disease, adult form 10.2 FGF23 PTH
19 enthesopathy 10.2
20 donnai-barrow syndrome 10.2 FGF23 KL
21 osteomalacia 10.1
22 nephrocalcinosis 10.1
23 bacillary angiomatosis 10.1 PTH VDR
24 opioid abuse 10.1 FGF23 PTH VDR
25 tinea unguium 10.1 FGF23 PTH VDR
26 oncogenic osteomalacia 10.1
27 hyperparathyroidism, familial primary 10.1 FGF23 PTH VDR
28 physical disorder 10.1 PTH VDR
29 silver-russell syndrome due to 11p15 microduplication 10.0 SLC34A3 VDR
30 fatal infantile encephalomyopathy 10.0 FGF23 KL PHEX
31 hyperparathyroidism 10.0
32 periodontitis 10.0
33 childhood absence epilepsy 9.9 FGF23 KL PHEX
34 white sponge nevus of cannon, krt4-related 9.9 CYP27B1 PTH VDR
35 microphthalmia 9.9 PTH SLC34A1
36 fibrous dysplasia 9.8
37 osteogenesis imperfecta 9.8
38 hypophosphatasia 9.8
39 kidney disease 9.8
40 paraplegia 9.8
41 autosomal dominant polycystic kidney disease 9.8
42 marfan syndrome 9.8
43 polycystic kidney disease 9.8
44 dwarfism 9.8
45 renal tubular acidosis 9.8
46 osteochondrodysplasia 9.8 KL PTH VDR
47 calcinosis 9.8 FGF23 KL PTH
48 uv-sensitive syndrome 3 9.7 SLC34A1 VDR
49 pes anserinus tendinitis or bursitis 9.6 CYP27B1 FGF23 PTH VDR
50 chronic myelomonocytic leukemia 9.6 CYP27B1 FGF23 PTH VDR

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 via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Growth- Other:
growth retardation

Skeletal- Spine:
spinal cord compression
spinal stenosis

Genitourinary- Kidneys:
renal phosphate wasting
decreased tubular maximum for phosphate reabsorption per glomerular filtration rate (tmp/gfr)

Head And Neck- Ears:
hearing loss has been reported in some adults with severe disease

Skeletal- Skull:
increased anteroposterior skull length

Skeletal- Feet:
shortening of the talar neck
flattening of the talar dome

Laboratory- Abnormalities:
normal serum calcium
increased serum alkaline phosphatase
hypophosphatemia
normal to mildly increased serum parathyroid hormone (pth)
inappropriately normal to low-normal serum 1,25-dihydroxyvitamin d3
more
Head And Neck- Head:
frontal bossing

Skeletal:
bone pain
joint pain
rickets in children
osteomalacia in adults
osteoarthritis, more common in adults
more
Skeletal- Limbs:
frayed, irregular metaphyses
lower limb deformities
bowing of the legs
curvatures of the femur, tibia, fibula
trapezoidal distal femoral condyles
more
Head And Neck- Teeth:
hypomineralization of enamel
defect in dentin maturation
enlarged pulp chambers
recurrent dental abscesses

Skeletal- Pelvis:
flaring of the iliac wings


Clinical features from OMIM:

307800

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

56 32 (show all 37)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 genu varum 56 32 hallmark (90%) Very frequent (99-80%) HP:0002970
3 recurrent fractures 56 32 occasional (7.5%) Occasional (29-5%) HP:0002757
4 bone pain 56 32 hallmark (90%) Very frequent (99-80%) HP:0002653
5 osteoarthritis 56 32 frequent (33%) Frequent (79-30%) HP:0002758
6 craniosynostosis 56 32 frequent (33%) Frequent (79-30%) HP:0001363
7 hypophosphatemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002148
8 osteomalacia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002749
9 rickets 56 32 hallmark (90%) Very frequent (99-80%) HP:0002748
10 hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000365
11 joint dislocation 56 32 hallmark (90%) Very frequent (99-80%) HP:0001373
12 bowing of the legs 56 32 Very frequent (99-80%) HP:0002979
13 rachitic rosary 56 32 hallmark (90%) Very frequent (99-80%) HP:0000897
14 abnormality of dental enamel 56 32 hallmark (90%) Very frequent (99-80%) HP:0000682
15 enthesitis 56 32 frequent (33%) Frequent (79-30%) HP:0100686
16 femoral bowing 32 HP:0002980
17 tibial bowing 32 HP:0002982
18 frontal bossing 32 HP:0002007
19 renal tubular dysfunction 32 HP:0000124
20 spinal cord compression 32 HP:0002176
21 arthralgia 32 HP:0002829
22 renal phosphate wasting 32 HP:0000117
23 spinal canal stenosis 32 HP:0003416
24 elevated alkaline phosphatase 32 HP:0003155
25 metaphyseal irregularity 32 HP:0003025
26 hypophosphatemic rickets 32 HP:0004912
27 hypomineralization of enamel 32 HP:0006285
28 trapezoidal distal femoral condyles 32 HP:0006432
29 shortening of the talar neck 32 HP:0008117
30 flattening of the talar dome 32 HP:0008144
31 abnormality of the teeth 56 Very frequent (99-80%)
32 abnormality of the metaphyses 56 Very frequent (99-80%)
33 elevated circulating parathyroid hormone level 32 HP:0003165
34 abnormality of pelvic girdle bone morphology 32 HP:0002644
35 fibular bowing 32 HP:0010502
36 tooth abscess 32 hallmark (90%) HP:0030757
37 abnormality of the metaphysis 32 hallmark (90%) HP:0000944

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 CYP27B1 DMP1 FGF23 KL PHEX PTH
2 homeostasis/metabolism MP:0005376 10.07 CYP27B1 DMP1 FGF23 KL PHEX PTH
3 cardiovascular system MP:0005385 10.04 FGF23 KL PTH SFRP4 VDR CYP27B1
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 DMP1 FGF23 KL PHEX PTH
7 craniofacial MP:0005382 9.88 DMP1 PHEX PTH VDR CYP27B1
8 limbs/digits/tail MP:0005371 9.86 CYP27B1 DMP1 FGF23 KL PHEX PTH
9 renal/urinary system MP:0005367 9.81 CYP27B1 DMP1 FGF23 KL PHEX SFRP4
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 22)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ergocalciferol Approved, Nutraceutical Phase 3 50-14-6 5280793
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
3 Hormone Antagonists Phase 3,Phase 1,Phase 2
4 Hormones Phase 3,Phase 1,Phase 2
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1,Phase 2
6 Bone Density Conservation Agents Phase 3
7 Ergocalciferols Phase 3
8 Micronutrients Phase 3
9 Trace Elements Phase 3
10 Vitamins Phase 3
11 Antibodies Phase 3,Phase 2
12 Antibodies, Monoclonal Phase 3,Phase 2
13 Immunoglobulins Phase 3,Phase 2
14 Mitogens Phase 3,Phase 2
15 Calciferol Nutraceutical Phase 3
16 Vitamin D2 Nutraceutical Phase 3
17 Calcimimetic Agents Phase 1
18 Cinacalcet Hydrochloride Phase 1
19
Salmon Calcitonin Approved, Investigational 47931-85-1 16129616
20 calcitonin
21 Calcitonin Gene-Related Peptide
22 Vasodilator Agents

Interventional clinical trials:

(show all 18)

id Name Status NCT ID Phase Drugs
1 The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone Formers Unknown status NCT01526304 Phase 4
2 Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets Completed NCT00417612 Phase 3 Paricalcitol
3 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 Oral Phosphate;Active Vitamin D
4 A Study of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Active, not recruiting NCT03233126 Phase 3 KRN23
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 KRN23
8 A Repeated Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01340482 Phase 1, Phase 2 KRN23
9 Growth Hormone Treatment in Children With Hypophosphatemic Rickets Completed NCT02720770 Phase 1, Phase 2 norditropine simplex
10 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 KRN23
11 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 KRN23
12 Long-Term Extension Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH) Enrolling by invitation NCT02312687 Phase 2 KRN23
13 Effects of GH on Body Proportions and Final Height in X-Linked Hypophosphatemic Rickets Unknown status NCT00473187 Phase 1 somatropin
14 Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic Rickets Unknown status NCT00195936 Phase 1 Cinacalcet
15 A Study of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/Osteomalacia Completed NCT02181764 Phase 1 KRN23
16 A Study of KRN23 in X-linked Hypophosphatemia Completed NCT00830674 Phase 1 Placebo;KRN23
17 Calcitonin for Treating X-linked Hypophosphatemia Completed NCT01652573 nasal salmon calcitonin;Saline Nasal Spray Placebo
18 Registry for Patients With X-linked Hypophosphatemia Not yet recruiting NCT03193476

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 X-Linked Hypophosphatemia 24 PHEX
2 Hypophosphatemic Rickets, X-Linked Dominant 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:

71 (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 rs875989883
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 apical plasma membrane GO:0016324 9.13 KL SLC34A1 SLC34A3
2 brush border membrane GO:0031526 8.62 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 9.79 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 biomineral tissue development GO:0031214 9.63 DMP1 PHEX
6 positive regulation of bone mineralization GO:0030501 9.62 KL PTH
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 growth hormone GO:0060416 9.55 PHEX SLC34A1
15 response to magnesium ion GO:0032026 9.54 FGF23 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 response to sodium phosphate GO:1904383 9.4 FGF23 PHEX
25 vitamin D catabolic process GO:0042369 9.37 CYP27B1 FGF23
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
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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