MCID: HYP609
MIFTS: 62

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 57 53 75 13 73
X-Linked Hypophosphatemia 38 12 24 53 59
Vitamin D-Resistant Rickets, X-Linked 57 12 53 73
X-Linked Hypophosphatemic Rickets 12 53 59 15
Xlh 57 53 59 75
Hpdr 57 53 75
Hyp 57 76 75
Hypophosphatemic Vitamin D-Resistant Rickets 57 75
Familial Hypophosphatemic Rickets 44 73
Xlhr 57 75
Hypophosphatemic Vitamin D-Resistant Rickets; Hpdr 57
Hypophosphatemia, Vitamin D-Resistant Rickets 12
Rickets, Hypophosphatemic, X-Linked Dominant 40
Hypophophatemic Vitamin D-Resistant Rickets 53
Hypophosphatemic Rickets X-Linked Dominant 12
Vitamin D-Resistant Rickets X-Linked 75
Rickets, X-Linked Hypophosphatemic 73
Hypophosphatemia, X-Linked; Xlh 57
Rickets, Vitamin D-Resistant 12
Vitamin D Resistant Rickets 76
Vitamin D-Resistant Rickets 73
Hypophosphatemia, X-Linked 57
Hypophophatemia, X-Linked 53
Hypophosphatemia X-Linked 75

Characteristics:

Orphanet epidemiological data:

59
x-linked hypophosphatemia
Inheritance: X-linked dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
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


Classifications:



Summaries for Hypophosphatemic Rickets, X-Linked Dominant

NIH Rare Diseases : 53 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. XLH is caused by mutations in the PHEX gene on the X chromosome, and inheritance is X-linked dominant. 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. The long-term outlook varies depending on severity and whether complications arise. While some adults with XLH may have minimal medical problems, others may experience persistant discomfort or complications.

MalaCards based summary : Hypophosphatemic Rickets, X-Linked Dominant, also known as x-linked hypophosphatemia, is related to hereditary hypophosphatemic rickets and vitamin d-dependent rickets, type 2a, and has symptoms including arthralgia and bone pain. 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 Parathyroid hormone synthesis, secretion and action and Endocrine and other factor-regulated calcium reabsorption. 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 joint dislocation and osteoarthritis

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.

OMIM : 57 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)

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 X-linked hypophosphatemia (XLH), also called X-linked dominant hypophosphatemic rickets, X-linked... more...

GeneReviews:

Related Diseases for Hypophosphatemic Rickets, X-Linked Dominant

Diseases in the Hypophosphatemic Rickets, X-Linked Dominant family:

Hypophosphatemic Rickets, X-Linked Recessive

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

(show all 45)
# Related Disease Score Top Affiliating Genes
1 hereditary hypophosphatemic rickets 32.4 SLC34A1 SLC34A3
2 vitamin d-dependent rickets, type 2a 31.9 CYP27B1 VDR
3 hypophosphatemia 27.6 DMP1 FGF23 PHEX PTH SFRP4 SLC34A1
4 rickets 26.1 CYP27B1 DMP1 FGF23 PHEX PTH SLC34A1
5 hypophosphatemic rickets, x-linked recessive 25.9 CYP27B1 DMP1 FGF23 PHEX SFRP4 SLC34A1
6 epidermal nevus vitamin d resistant rickets 12.3
7 opsismodysplasia 10.5 FGF23 PHEX
8 raine syndrome 10.4 DMP1 FGF23
9 arterial calcification of infancy 10.4 FGF23 PHEX
10 hypercalciuria, absorptive, 2 10.3 SLC34A3 VDR
11 hypercalcemia, infantile, 1 10.3 PTH VDR
12 impaired renal function disease 10.3 FGF23 PTH
13 enthesopathy 10.2 DMP1 FGF23 PHEX
14 tracheal calcification 10.2 FGF23 KL
15 autosomal recessive hypophosphatemic rickets 10.2 DMP1 FGF23 PHEX
16 metaphyseal chondrodysplasia, jansen type 10.2 FGF23 PTH
17 idiopathic hypercalciuria 10.2 SLC34A3 VDR
18 tumoral calcinosis, hyperphosphatemic, familial, 1 10.2 FGF23 KL
19 calciphylaxis 10.1 FGF23 PTH VDR
20 parathyroid gland disease 10.0 FGF23 PTH VDR
21 renal osteodystrophy 10.0 FGF23 PTH VDR
22 nephrolithiasis, calcium oxalate 10.0 SLC34A1 VDR
23 bone resorption disease 10.0 PTH VDR
24 primary hyperparathyroidism 10.0 FGF23 PTH VDR
25 familial tumoral calcinosis 9.9 FGF23 KL PHEX
26 calcinosis 9.9 FGF23 KL PHEX
27 spondylosis 9.7 KL PTH VDR
28 urinary system disease 9.7 FGF23 KL PTH
29 parathyroid adenoma 9.6 PTH VDR
30 hypophosphatemic rickets, autosomal dominant 9.6 FGF23 PHEX SFRP4 SLC34A3
31 bone disease 9.5 FGF23 PTH SLC34A3 VDR
32 kidney disease 9.5 FGF23 PTH VDR
33 pulmonary alveolar microlithiasis 9.4 FGF23 PTH SLC34A1 SLC34A3
34 osteomalacia 9.2 DMP1 FGF23 PHEX SFRP4 VDR
35 secondary hyperparathyroidism of renal origin 9.1 CYP27B1 FGF23 PTH VDR
36 oncogenic osteomalacia 9.1 DMP1 FGF23 PHEX PTH SFRP4
37 chronic kidney failure 9.1 CYP27B1 FGF23 PTH VDR
38 bone remodeling disease 8.8 CYP27B1 FGF23 PHEX PTH VDR
39 hyperparathyroidism 8.8 CYP27B1 FGF23 PHEX PTH VDR
40 mineral metabolism disease 8.5 FGF23 KL PHEX PTH SLC34A3 VDR
41 hyperphosphatemia 8.4 FGF23 KL PHEX PTH SLC34A1 VDR
42 hypervitaminosis d 8.4 CYP27B1 FGF23 KL PTH VDR
43 osteoporosis 7.7 CYP27B1 FGF23 KL PTH SLC34A1 VDR
44 phosphorus metabolism disease 6.5 CYP27B1 DMP1 FGF23 KL PHEX PTH
45 hypophosphatemic rickets with hypercalciuria, hereditary 6.3 CYP27B1 DMP1 FGF23 KL PHEX 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 via clinical synopsis from OMIM:

57
Head And Neck Head:
frontal bossing

Laboratory Abnormalities:
hypophosphatemia
normal serum calcium
increased serum alkaline phosphatase
normal to mildly increased serum parathyroid hormone (pth)
inappropriately normal to low-normal serum 1,25-dihydroxyvitamin d3
more
Skeletal Limbs:
bowing of the legs
frayed, irregular metaphyses
lower limb deformities
curvatures of the femur, tibia, fibula
trapezoidal distal femoral condyles
more
Genitourinary Kidneys:
renal phosphate wasting
decreased tubular maximum for phosphate reabsorption per glomerular filtration rate (tmp/gfr)

Head And Neck Teeth:
recurrent dental abscesses
hypomineralization of enamel
defect in dentin maturation
enlarged pulp chambers

Skeletal Skull:
increased anteroposterior skull length

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

Growth Height:
short stature

Skeletal:
bone pain
joint pain
rickets in children
osteomalacia in adults
osteoarthritis, more common in adults
more
Skeletal Spine:
spinal cord compression
spinal stenosis

Growth Other:
growth retardation

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

Skeletal Pelvis:
flaring of the iliac wings


Clinical features from OMIM:

307800

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

59 32 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001373
2 osteoarthritis 59 32 frequent (33%) Frequent (79-30%) HP:0002758
3 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
4 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
5 hypophosphatemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002148
6 rickets 59 32 hallmark (90%) Very frequent (99-80%) HP:0002748
7 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
8 abnormality of dental enamel 59 32 hallmark (90%) Very frequent (99-80%) HP:0000682
9 genu varum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002970
10 osteomalacia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002749
11 recurrent fractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002757
12 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
13 craniosynostosis 59 32 frequent (33%) Frequent (79-30%) HP:0001363
14 bowing of the legs 59 32 Very frequent (99-80%) HP:0002979
15 tooth abscess 59 32 hallmark (90%) Very frequent (99-80%) HP:0030757
16 enthesitis 59 32 frequent (33%) Frequent (79-30%) HP:0100686
17 rachitic rosary 59 32 hallmark (90%) Very frequent (99-80%) HP:0000897
18 frontal bossing 32 HP:0002007
19 abnormality of the dentition 59 Very frequent (99-80%)
20 renal tubular dysfunction 32 HP:0000124
21 arthralgia 32 HP:0002829
22 elevated circulating parathyroid hormone level 32 HP:0003165
23 spinal canal stenosis 32 HP:0003416
24 abnormality of pelvic girdle bone morphology 32 HP:0002644
25 femoral bowing 32 HP:0002980
26 elevated alkaline phosphatase 32 HP:0003155
27 tibial bowing 32 HP:0002982
28 spinal cord compression 32 HP:0002176
29 hypophosphatemic rickets 32 HP:0004912
30 fibular bowing 32 HP:0010502
31 renal phosphate wasting 32 HP:0000117
32 metaphyseal irregularity 32 HP:0003025
33 hypomineralization of enamel 32 HP:0006285
34 trapezoidal distal femoral condyles 32 HP:0006432
35 shortening of the talar neck 32 HP:0008117
36 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:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.13 SLC34A1 SLC34A3 VDR SFRP4 FGF23 PTH
2 homeostasis/metabolism MP:0005376 10.07 SLC34A1 SLC34A3 VDR SFRP4 FGF23 PTH
3 cardiovascular system MP:0005385 10.04 PTH VDR SFRP4 FGF23 CYP27B1 KL
4 hematopoietic system MP:0005397 10.01 VDR SFRP4 FGF23 PTH CYP27B1 KL
5 craniofacial MP:0005382 9.95 VDR PTH CYP27B1 KL DMP1 PHEX
6 digestive/alimentary MP:0005381 9.93 SLC34A3 VDR SFRP4 PHEX FGF23 KL
7 immune system MP:0005387 9.92 VDR SFRP4 PHEX FGF23 PTH CYP27B1
8 limbs/digits/tail MP:0005371 9.86 VDR SFRP4 FGF23 PTH CYP27B1 KL
9 renal/urinary system MP:0005367 9.81 SLC34A3 VDR SFRP4 SLC34A1 FGF23 CYP27B1
10 reproductive system MP:0005389 9.43 SLC34A1 VDR SFRP4 FGF23 CYP27B1 KL
11 skeleton MP:0005390 9.32 SLC34A1 SLC34A3 VDR SFRP4 FGF23 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 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ergocalciferol Approved, Nutraceutical Phase 3,Not Applicable 50-14-6 5280793
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3,Not Applicable 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,Not Applicable
7 Ergocalciferols Phase 3,Not Applicable
8 Micronutrients Phase 3,Not Applicable
9 Trace Elements Phase 3,Not Applicable
10 Vitamins Phase 3,Not Applicable
11 Antibodies Phase 3,Phase 2
12 Antibodies, Monoclonal Phase 3,Phase 2
13 Immunoglobulin G Phase 3,Phase 2
14 Immunoglobulins Phase 3,Phase 2
15 Mitogens Phase 3,Phase 2
16 Calciferol Nutraceutical Phase 3,Not Applicable
17 Vitamin D2 Nutraceutical Phase 3,Not Applicable
18 Calcimimetic Agents Phase 1
19 Cinacalcet Hydrochloride Phase 1
20
Salmon Calcitonin Approved, Investigational Not Applicable 47931-85-1 16129616
21
Calcitonin gene-related peptide Investigational Not Applicable 83652-28-2
22 calcitonin Not Applicable
23 Vasodilator Agents Not Applicable
24 Autonomic Agents Not Applicable
25 Cholinergic Agents Not Applicable
26 Methacholine Chloride Not Applicable
27 Neurotransmitter Agents Not Applicable
28 Peripheral Nervous System Agents Not Applicable
29 Respiratory System Agents Not Applicable

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets Completed NCT00417612 Phase 3 Paricalcitol
2 A Study of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Active, not recruiting NCT03233126 Phase 3 KRN23
3 Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02537431 Phase 3
4 Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02526160 Phase 3
5 Efficacy and Safety of KRN23 Versus Oral Phosphate and Active Vitamin D Treatment in Pediatric Patients With X Linked Hypophosphatemia (XLH) Active, not recruiting NCT02915705 Phase 3 oral phosphate;active vitamin D
6 An Extension Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01571596 Phase 1, Phase 2 KRN23
7 A Repeated Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01340482 Phase 1, Phase 2 KRN23
8 Growth Hormone Treatment in Children With Hypophosphatemic Rickets Completed NCT02720770 Phase 1, Phase 2 norditropine simplex
9 Study of KRN23, a Recombinant Fully Human Monoclonal Antibody Against Fibroblast Growth Factor 23 (FGF23), in Pediatric Subjects With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02163577 Phase 2
10 Study of the Safety, Pharmacodynamics (PD) and Efficacy of KRN23 in Children From 1 to 4 Years Old With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02750618 Phase 2
11 Long-Term Extension Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH) Active, not recruiting NCT02312687 Phase 2
12 Effects of GH on Body Proportions and Final Height in X-Linked Hypophosphatemic Rickets Unknown status NCT00473187 Phase 1 somatropin
13 Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic Rickets Unknown status NCT00195936 Phase 1 Cinacalcet
14 A Study of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/Osteomalacia Completed NCT02181764 Phase 1 KRN23
15 A Study of KRN23 in X-linked Hypophosphatemia Completed NCT00830674 Phase 1 Placebo;KRN23
16 The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone Formers Unknown status NCT01526304
17 Calcitonin for Treating X-linked Hypophosphatemia Completed NCT01652573 Not Applicable nasal salmon calcitonin;Saline Nasal Spray Placebo
18 Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent Patients Completed NCT01578824 Not Applicable
19 Magnesium Treatment on Vitamin D Metabolism in Participants Completed Personalized Prevention of Colorectal Cancer Trial Completed NCT03265483 Not Applicable
20 Registry for Patients With X-linked Hypophosphatemia Not yet recruiting NCT03193476
21 FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP) Not yet recruiting NCT03489993

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

Anatomical Context for Hypophosphatemic Rickets, X-Linked Dominant

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

41
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:
# Tissue Anatomical CompartmentCell Relevance
1 Kidney Proximal Tubule Proximal Tubule Cells Potential therapeutic candidate, affected by disease

Publications for Hypophosphatemic Rickets, X-Linked Dominant

Articles related to Hypophosphatemic Rickets, X-Linked Dominant:

(show top 50) (show all 128)
# Title Authors Year
1
Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations. ( 29460029 )
2018
2
X-linked hypophosphatemia and FGF23-related hypophosphatemic diseases -Prospect for new treatment. ( 29381780 )
2018
3
Burosumab Therapy in Children with X-Linked Hypophosphatemia. ( 29791829 )
2018
4
Impaired mineral quality in dentin in X-linked hypophosphatemia. ( 29745817 )
2018
5
Three-Month Randomized Clinical Trial of Nasal Calcitonin in Adults with X-linked Hypophosphatemia. ( 29383408 )
2018
6
A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial Evaluating the Efficacy of Burosumab, an Anti-FGF23 Antibody, in Adults With X-Linked Hypophosphatemia: Week 24 Primary Analysis. ( 29947083 )
2018
7
Impact of Conventional Medical Therapy on Bone Mineral Density and Bone Turnover in Adult Patients with X-Linked Hypophosphatemia: A 6-Year Prospective Cohort Study. ( 29143140 )
2017
8
Dental management of patients with X-linked hypophosphatemia. ( 28503481 )
2017
9
Correction to: X-linked hypophosphatemia and growth. ( 29110236 )
2017
10
Therapeutic Effects of FGF23 c-tail Fc in a Murine Preclinical Model of X-Linked Hypophosphatemia Via the Selective Modulation of Phosphate Reabsorption. ( 28600887 )
2017
11
Craniofacial and dental characteristics of patients with vitamin-D-dependent rickets type 1A compared to controls and patients with X-linked hypophosphatemia. ( 28608052 )
2017
12
Comparison of calcimimetic R568 and calcitriol in mineral homeostasis in the Hyp mouse, a murine homolog of X-linked hypophosphatemia. ( 28728941 )
2017
13
X-linked hypophosphatemia with enthesopathy. ( 28784895 )
2017
14
Osteopontin and the dento-osseous pathobiology of X-linked hypophosphatemia. ( 27884786 )
2017
15
Hormonal Regulation of Osteocyte Perilacunar and Canalicular Remodeling in the Hyp Mouse Model of X-Linked Hypophosphatemia. ( 29083055 )
2017
16
[Identification of a novel splicing mutation of PHEX gene in a pedigree affected with X-linked hypophosphatemia]. ( 28397222 )
2017
17
Tissue-specific mineralization defects in the periodontium of the Hyp mouse model of X-linked hypophosphatemia. ( 28764922 )
2017
18
Serum calcitriol levels in a patient with X-linked hypophosphatemia complicated by autosomal dominant polycystic kidney disease. ( 28509123 )
2017
19
Defective Mineralization in X-Linked Hypophosphatemia Dental Pulp Cell Cultures. ( 28880715 )
2017
20
Minimally Invasive Surgical Management of Thoracic Ossification of the Ligamentum Flavum Associated with X-linked Hypophosphatemia. ( 27481600 )
2016
21
Effect of four monthly doses of a human monoclonal anti-FGF23 antibody (KRN23) on quality of life in X-linked hypophosphatemia. ( 28326356 )
2016
22
Impaired quality of life in adults with X-linked hypophosphatemia and skeletal symptoms. ( 26783348 )
2016
23
Phosphate and Vitamin D Prevent Periodontitis in X-Linked Hypophosphatemia. ( 27821544 )
2016
24
A radiological study on intra- and extra-cranial calcifications in adults with X-linked hypophosphatemia and associations with other mineralizing enthesopathies and childhood medical treatment. ( 26913700 )
2016
25
Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia. ( 27894323 )
2016
26
CRISPR/Cas9-mediated mutation of PHEX in rabbit recapitulates human X-linked hypophosphatemia (XLH). ( 27126636 )
2016
27
Hypertension is a characteristic complication of X-linked hypophosphatemia. ( 28025445 )
2016
28
Prolonged Correction of Serum Phosphorus in Adults With X-Linked Hypophosphatemia Using Monthly Doses of KRN23. ( 25919461 )
2015
29
Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia. ( 26040324 )
2015
30
Pharmacokinetics and pharmacodynamics of a human monoclonal anti-FGF23 antibody (KRN23) in the first multiple ascending-dose trial treating adults with X-linked hypophosphatemia. ( 26073451 )
2015
31
Conventional Therapy in Adults With X-Linked Hypophosphatemia: Effects on Enthesopathy and Dental Disease. ( 26176801 )
2015
32
Population pharmacokinetic and pharmacodynamic analyses from a 4-month intradose escalation and its subsequent 12-month dose titration studies for a human monoclonal anti-FGF23 antibody (KRN23) in adults with X-linked hypophosphatemia. ( 26247790 )
2015
33
Effect of paricalcitol on circulating parathyroid hormone in X-linked hypophosphatemia: a randomized, double-blind, placebo-controlled study. ( 25029424 )
2014
34
Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia. ( 24569459 )
2014
35
High bone mineral apparent density in children with X-linked hypophosphatemia. ( 23389694 )
2013
36
MEPE-derived ASARM peptide inhibits odontogenic differentiation of dental pulp stem cells and impairs mineralization in tooth models of X-linked hypophosphatemia. ( 23451077 )
2013
37
Iron and fibroblast growth factor 23 in X-linked hypophosphatemia. ( 24325979 )
2013
38
Extracellular matrix mineralization in periodontal tissues: Noncollagenous matrix proteins, enzymes, and relationship to hypophosphatasia and X-linked hypophosphatemia. ( 23931057 )
2013
39
Proteolytic processing of osteopontin by PHEX and accumulation of osteopontin fragments in Hyp mouse bone, the murine model of X-linked hypophosphatemia. ( 22991293 )
2013
40
Dosage effect of a Phex mutation in a murine model of X-linked hypophosphatemia. ( 23700148 )
2013
41
A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells. ( 22006791 )
2012
42
Calcitonin administration in X-linked hypophosphatemia. ( 21524226 )
2011
43
A clinician's guide to X-linked hypophosphatemia. ( 21538511 )
2011
44
Autism and X-linked hypophosphatemia: A possible association? ( 20838491 )
2010
45
Circulating levels of soluble klotho and FGF23 in X-linked hypophosphatemia: circadian variance, effects of treatment, and relationship to parathyroid status. ( 20685863 )
2010
46
Treatment of X-linked hypophosphatemia with calcitriol and phosphate increases circulating fibroblast growth factor 23 concentrations. ( 20157195 )
2010
47
Survey of the enthesopathy of X-linked hypophosphatemia and its characterization in Hyp mice. ( 19609735 )
2009
48
Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia. ( 18172553 )
2008
49
Role of prostaglandins in the pathogenesis of X-linked hypophosphatemia. ( 16721588 )
2006
50
X-linked hypophosphatemia: dental and histologic findings. ( 16480608 )
2006

Variations for Hypophosphatemic Rickets, X-Linked Dominant

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

75 (show all 30)
# 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 rs886041363
8 PHEX p.Gly579Arg VAR_006745 rs875989883
9 PHEX p.Gly579Val VAR_006746 rs1057517980Hypophosphatemic
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 rs760870713
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 top 50) (show all 305)
# 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.830T> A (p.Leu277Ter) single nucleotide variant Pathogenic rs137853268 GRCh38 Chromosome X, 22094080: 22094080
6 PHEX NM_000444.5(PHEX): c.254G> A (p.Cys85Tyr) single nucleotide variant Pathogenic rs137853269 GRCh37 Chromosome X, 22065234: 22065234
7 PHEX NM_000444.5(PHEX): c.254G> A (p.Cys85Tyr) single nucleotide variant Pathogenic rs137853269 GRCh38 Chromosome X, 22047116: 22047116
8 PHEX NM_000444.5(PHEX): c.1664T> C (p.Leu555Pro) single nucleotide variant Pathogenic rs137853270 GRCh37 Chromosome X, 22231039: 22231039
9 PHEX NM_000444.5(PHEX): c.1664T> C (p.Leu555Pro) single nucleotide variant Pathogenic rs137853270 GRCh38 Chromosome X, 22212922: 22212922
10 PHEX PHEX, A-G, NT-429 single nucleotide variant Pathogenic
11 PHEX PHEX, IVS7, +1268, G-T single nucleotide variant Pathogenic
12 PHEX NM_000444.5(PHEX): c.1699C> T (p.Arg567Ter) single nucleotide variant Pathogenic rs137853271 GRCh37 Chromosome X, 22231074: 22231074
13 PHEX NM_000444.5(PHEX): c.1699C> T (p.Arg567Ter) single nucleotide variant Pathogenic rs137853271 GRCh38 Chromosome X, 22212957: 22212957
14 PHEX PHEX, IVS4, T-C, +6 single nucleotide variant Pathogenic
15 PHEX NM_000444.5(PHEX): c.1404+2T> G single nucleotide variant Likely pathogenic rs193922454 GRCh37 Chromosome X, 22151743: 22151743
16 PHEX NM_000444.5(PHEX): c.1404+2T> G single nucleotide variant Likely pathogenic rs193922454 GRCh38 Chromosome X, 22133626: 22133626
17 PHEX NM_000444.5(PHEX): c.1589G> A (p.Trp530Ter) single nucleotide variant Likely pathogenic rs193922455 GRCh37 Chromosome X, 22208563: 22208563
18 PHEX NM_000444.5(PHEX): c.1589G> A (p.Trp530Ter) single nucleotide variant Likely pathogenic rs193922455 GRCh38 Chromosome X, 22190446: 22190446
19 PHEX NM_000444.5(PHEX): c.1949T> C (p.Leu650Pro) single nucleotide variant Likely pathogenic rs193922456 GRCh37 Chromosome X, 22244609: 22244609
20 PHEX NM_000444.5(PHEX): c.1949T> C (p.Leu650Pro) single nucleotide variant Likely pathogenic rs193922456 GRCh38 Chromosome X, 22226492: 22226492
21 PHEX NM_000444.5(PHEX): c.1999G> T (p.Gly667Ter) single nucleotide variant Likely pathogenic rs193922457 GRCh37 Chromosome X, 22245657: 22245657
22 PHEX NM_000444.5(PHEX): c.1999G> T (p.Gly667Ter) single nucleotide variant Likely pathogenic rs193922457 GRCh38 Chromosome X, 22227540: 22227540
23 PHEX NM_000444.5(PHEX): c.318G> A (p.Trp106Ter) single nucleotide variant Likely pathogenic rs193922458 GRCh37 Chromosome X, 22065298: 22065298
24 PHEX NM_000444.5(PHEX): c.318G> A (p.Trp106Ter) single nucleotide variant Likely pathogenic rs193922458 GRCh38 Chromosome X, 22047180: 22047180
25 PHEX NM_000444.5(PHEX): c.349+1G> C single nucleotide variant Likely pathogenic rs193922459 GRCh37 Chromosome X, 22065330: 22065330
26 PHEX NM_000444.5(PHEX): c.349+1G> C single nucleotide variant Likely pathogenic rs193922459 GRCh38 Chromosome X, 22047212: 22047212
27 PHEX NM_000444.5(PHEX): c.884_885dupCC (p.Met296Profs) duplication Likely pathogenic rs193922460 GRCh37 Chromosome X, 22115107: 22115108
28 PHEX NM_000444.5(PHEX): c.884_885dupCC (p.Met296Profs) duplication Likely pathogenic rs193922460 GRCh38 Chromosome X, 22096989: 22096990
29 PHEX NM_000444.5(PHEX): c.10G> C (p.Glu4Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs147859619 GRCh38 Chromosome X, 22033015: 22033015
30 PHEX NM_000444.5(PHEX): c.10G> C (p.Glu4Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs147859619 GRCh37 Chromosome X, 22051133: 22051133
31 PHEX NM_000444.5(PHEX): c.1735G> A (p.Gly579Arg) single nucleotide variant Pathogenic/Likely pathogenic rs875989883 GRCh37 Chromosome X, 22237187: 22237187
32 PHEX NM_000444.5(PHEX): c.1735G> A (p.Gly579Arg) single nucleotide variant Pathogenic/Likely pathogenic rs875989883 GRCh38 Chromosome X, 22219070: 22219070
33 PHEX NM_000444.5(PHEX): c.1769-10C> T single nucleotide variant Benign rs3752433 GRCh37 Chromosome X, 22239720: 22239720
34 PHEX NM_000444.5(PHEX): c.1769-10C> T single nucleotide variant Benign rs3752433 GRCh38 Chromosome X, 22221603: 22221603
35 PHEX NM_000444.5(PHEX): c.1543C> T (p.Gln515Ter) single nucleotide variant Pathogenic rs886041361 GRCh37 Chromosome X, 22196450: 22196450
36 PHEX NM_000444.5(PHEX): c.1543C> T (p.Gln515Ter) single nucleotide variant Pathogenic rs886041361 GRCh38 Chromosome X, 22178333: 22178333
37 PHEX NM_000444.5(PHEX): c.1779_1782dupTGAT (p.Lys595Terfs) duplication Pathogenic rs886041364 GRCh37 Chromosome X, 22239743: 22239743
38 PHEX NM_000444.5(PHEX): c.1779_1782dupTGAT (p.Lys595Terfs) duplication Pathogenic rs886041364 GRCh38 Chromosome X, 22221623: 22221626
39 PHEX NM_000444.5(PHEX): c.2239C> T (p.Arg747Ter) single nucleotide variant Pathogenic rs886041227 GRCh37 Chromosome X, 22266059: 22266059
40 PHEX NM_000444.5(PHEX): c.2239C> T (p.Arg747Ter) single nucleotide variant Pathogenic rs886041227 GRCh38 Chromosome X, 22247942: 22247942
41 PHEX NM_000444.5(PHEX): c.1601C> T (p.Pro534Leu) single nucleotide variant Pathogenic rs886041363 GRCh37 Chromosome X, 22208575: 22208575
42 PHEX NM_000444.5(PHEX): c.1601C> T (p.Pro534Leu) single nucleotide variant Pathogenic rs886041363 GRCh38 Chromosome X, 22190458: 22190458
43 PHEX NM_000444.5(PHEX): c.1645+1G> A single nucleotide variant Pathogenic rs886041225 GRCh37 Chromosome X, 22208620: 22208620
44 PHEX NM_000444.5(PHEX): c.1645+1G> A single nucleotide variant Pathogenic rs886041225 GRCh38 Chromosome X, 22190503: 22190503
45 PHEX NM_000444.5(PHEX): c.2193delT (p.Phe731Leufs) deletion Pathogenic rs886041631 GRCh37 Chromosome X, 22266013: 22266013
46 PHEX NM_000444.5(PHEX): c.2193delT (p.Phe731Leufs) deletion Pathogenic rs886041631 GRCh38 Chromosome X, 22247896: 22247896
47 PHEX NM_000444.5(PHEX): c.2071-1G> A single nucleotide variant Pathogenic rs886041374 GRCh37 Chromosome X, 22263449: 22263449
48 PHEX NM_000444.5(PHEX): c.2071-1G> A single nucleotide variant Pathogenic rs886041374 GRCh38 Chromosome X, 22245332: 22245332
49 PHEX NM_000444.5(PHEX): c.1367G> A (p.Trp456Ter) single nucleotide variant Pathogenic rs886041359 GRCh37 Chromosome X, 22151704: 22151704
50 PHEX NM_000444.5(PHEX): c.1367G> A (p.Trp456Ter) single nucleotide variant Pathogenic rs886041359 GRCh38 Chromosome X, 22133587: 22133587

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:

# 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 27)
# 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 9.74 PHEX PTH VDR
3 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.63 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 9.6 CYP27B1 KL
9 decidualization GO:0046697 9.59 CYP27B1 VDR
10 response to lead ion GO:0010288 9.58 PTH SLC34A1
11 regulation of bone mineralization GO:0030500 9.58 CYP27B1 FGF23
12 positive regulation of keratinocyte differentiation GO:0045618 9.56 CYP27B1 VDR
13 response to growth hormone GO:0060416 9.55 PHEX SLC34A1
14 response to magnesium ion GO:0032026 9.54 FGF23 SLC34A1
15 response to vitamin D GO:0033280 9.54 CYP27B1 PHEX PTH
16 cellular response to vitamin D GO:0071305 9.52 FGF23 PHEX
17 phosphate ion transport GO:0006817 9.51 SLC34A1 SLC34A3
18 vitamin D metabolic process GO:0042359 9.5 CYP27B1 FGF23 VDR
19 sodium-dependent phosphate transport GO:0044341 9.49 SLC34A1 SLC34A3
20 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.48 FGF23 KL
21 response to parathyroid hormone GO:0071107 9.46 PTH SLC34A1
22 vitamin D catabolic process GO:0042369 9.43 CYP27B1 FGF23
23 cellular response to parathyroid hormone stimulus GO:0071374 9.43 FGF23 PHEX SLC34A1
24 response to sodium phosphate GO:1904383 9.4 FGF23 PHEX
25 cellular phosphate ion homeostasis GO:0030643 9.33 FGF23 SLC34A1 SLC34A3
26 phosphate ion homeostasis GO:0055062 9.13 FGF23 SFRP4 SLC34A1
27 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:

# Name GO ID Score Top Affiliating Genes
1 1-phosphatidylinositol-3-kinase activity GO:0016303 9.32 FGF23 KL
2 fibroblast growth factor receptor binding GO:0005104 9.26 FGF23 KL
3 sodium:phosphate symporter activity GO:0005436 9.16 SLC34A1 SLC34A3
4 sodium-dependent phosphate transmembrane transporter activity GO:0015321 8.96 SLC34A1 SLC34A3
5 vitamin D binding GO:0005499 8.62 KL VDR

Sources for Hypophosphatemic Rickets, X-Linked Dominant

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