XLHR
MCID: HYP609
MIFTS: 60

Hypophosphatemic Rickets, X-Linked Dominant (XLHR)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare 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
Xlh 57 53 59 75
X-Linked Dominant Hypophosphatemic Rickets 12 37 15
X-Linked Hypophosphatemic Rickets 24 53 59
Xlhr 57 24 75
Hpdr 57 53 75
Hyp 57 76 75
Hypophosphatemic Vitamin D-Resistant Rickets 57 75
Familial Hypophosphatemic Rickets 44 73
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
X-Linked Vitamin D-Resistant Rickets 24
Vitamin D-Resistant Rickets X-Linked 75
Rickets, X-Linked Hypophosphatemic 73
Hypophosphatemia, X-Linked; Xlh 57
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


GeneReviews:

24
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 : 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 hypophosphatemic rickets, autosomal dominant, 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 Osteoblast Signaling. 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 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 Jean Baptiste Point du Sable (before 1750 ? 1818) is honored as the first permanent non-Native-American... more...

GeneReviews: NBK83985

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 top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 hereditary hypophosphatemic rickets 32.4 SLC34A1 SLC34A3
2 hypophosphatemic rickets, autosomal dominant 31.6 FGF23 PHEX SLC34A3
3 secondary hyperparathyroidism of renal origin 30.5 FGF23 PTH
4 oncogenic osteomalacia 30.1 DMP1 FGF23 PHEX PTH
5 hypoparathyroidism 30.1 FGF23 PTH
6 enthesopathy 30.0 DMP1 FGF23 PHEX
7 hypophosphatemia 30.0 DMP1 FGF23 PHEX PTH SLC34A1 SLC34A3
8 hypophosphatemic rickets, x-linked recessive 29.9 DMP1 FGF23 PHEX SLC34A1 SLC34A3
9 hyperparathyroidism 29.9 FGF23 PHEX PTH
10 rickets 29.8 DMP1 FGF23 PHEX PTH SLC34A1 SLC34A3
11 bone disease 29.7 FGF23 PTH SLC34A3
12 osteomalacia 29.6 DMP1 FGF23 PHEX PTH
13 nephrocalcinosis 29.4 PHEX PTH SLC34A1 SLC34A3
14 hyperphosphatemia 29.1 FGF23 KL PHEX PTH SLC34A1
15 vitamin d-dependent rickets, type 2a 11.5
16 nevus, epidermal 10.5
17 craniosynostosis 10.5
18 hypertelorism, preauricular sinus, punctal pits, and deafness 10.3
19 precocious puberty 10.2
20 spitz nevus 10.2
21 insulin-like growth factor i 10.2
22 hypogonadotropic hypogonadism 10.2
23 respiratory failure 10.2
24 papilledema 10.2
25 turner syndrome 10.2
26 kallmann syndrome 10.2
27 muscle hypertrophy 10.1
28 opsismodysplasia 10.1 FGF23 PHEX
29 arterial calcification of infancy 10.1 FGF23 PHEX
30 raine syndrome 10.1 DMP1 FGF23
31 familial glucocorticoid deficiency 10.1
32 synostosis 10.1
33 calciphylaxis 10.1 FGF23 PTH
34 impaired renal function disease 10.1 FGF23 PTH
35 tracheal calcification 10.0 FGF23 KL
36 metaphyseal chondrodysplasia, jansen type 10.0 FGF23 PTH
37 hypophosphatemic bone disease 10.0
38 marfan syndrome 10.0
39 autism 10.0
40 vitamin d hydroxylation-deficient rickets, type 1a 10.0
41 brittle bone disorder 10.0
42 renal tubular acidosis 10.0
43 fibrous dysplasia 10.0
44 hypophosphatasia 10.0
45 paraplegia 10.0
46 periodontitis 10.0
47 autosomal dominant polycystic kidney disease 10.0
48 dwarfism 10.0
49 parathyroid gland disease 10.0 FGF23 PTH
50 autosomal recessive hypophosphatemic rickets 10.0 DMP1 FGF23 PHEX

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
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.87 DMP1 FGF23 KL PHEX PTH SLC34A1
2 homeostasis/metabolism MP:0005376 9.8 DMP1 FGF23 KL PHEX PTH SLC34A1
3 craniofacial MP:0005382 9.67 DMP1 KL PHEX PTH
4 limbs/digits/tail MP:0005371 9.55 DMP1 FGF23 KL PHEX PTH
5 renal/urinary system MP:0005367 9.43 DMP1 FGF23 KL PHEX SLC34A1 SLC34A3
6 skeleton MP:0005390 9.17 DMP1 FGF23 KL PHEX PTH SLC34A1

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 36)
# 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 Hormones Phase 3,Phase 1,Phase 2
4 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1,Phase 2
5 Hormone Antagonists Phase 3,Phase 1,Phase 2
6 Mitogens Phase 3,Phase 2
7 Pharmaceutical Solutions Phase 3,Phase 2
8 Calciferol Phase 3,Not Applicable
9 Vitamins Phase 3,Not Applicable
10 Micronutrients Phase 3,Not Applicable
11 Bone Density Conservation Agents Phase 3,Not Applicable
12 Trace Elements Phase 3,Not Applicable
13 Vitamin D2 Phase 3,Not Applicable
14 Ergocalciferols Phase 3,Not Applicable
15 Immunologic Factors Phase 2
16 Antibodies Phase 2
17 Immunoglobulins Phase 2
18 Antibodies, Monoclonal Phase 2
19 Immunoglobulin G Phase 2
20 Calcimimetic Agents Phase 1
21 Cinacalcet Hydrochloride Phase 1
22
Salmon Calcitonin Approved, Investigational Not Applicable 47931-85-1 16129616
23
Angiotensin II Approved, Investigational 11128-99-7, 68521-88-0, 4474-91-3 172198 65143
24
Calcitonin gene-related peptide Investigational Not Applicable 83652-28-2
25 Vasodilator Agents Not Applicable
26 calcitonin Not Applicable
27 Cholinergic Agents Not Applicable
28 Autonomic Agents Not Applicable
29 Peripheral Nervous System Agents Not Applicable
30 Respiratory System Agents Not Applicable
31 Neurotransmitter Agents Not Applicable
32 Muscarinic Agonists Not Applicable
33 Methacholine Chloride Not Applicable
34 Angiotensin I (1-7)
35 Antihypertensive Agents
36 Angiotensinogen

Interventional clinical trials:

(show all 28)
# Name Status NCT ID Phase Drugs
1 Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH) Completed NCT02537431 Phase 3
2 Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH) Completed NCT02526160 Phase 3
3 Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets Completed NCT00417612 Phase 3 Paricalcitol
4 A Study of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Active, not recruiting NCT03233126 Phase 3 KRN23
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 Study of KRN23, a Recombinant Fully Human Monoclonal Antibody Against Fibroblast Growth Factor 23 (FGF23), in Pediatric Subjects With X-linked Hypophosphatemia (XLH) Completed NCT02163577 Phase 2
9 Long-Term Extension Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH) Completed NCT02312687 Phase 2
10 Growth Hormone Treatment in Children With Hypophosphatemic Rickets Completed NCT02720770 Phase 1, Phase 2 norditropine simplex
11 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
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 Study of Longitudinal Observation for Patient With X-linked Hypophosphatemic Rickets/Osteomalacia in Collaboration With Asian Partners Recruiting NCT03745521
21 Calcitriol Monotherapy for X-Linked Hypophosphatemia Recruiting NCT03748966 Early Phase 1 Calcitriol
22 X-linked Hypophosphatemia Disease Monitoring Program Recruiting NCT03651505
23 Individual Patient Compassionate Use of Burosumab Available NCT03775187
24 X-linked Hypophosphatemia and FGF21 Not yet recruiting NCT03596554
25 Registry for Patients With X-linked Hypophosphatemia Not yet recruiting NCT03193476
26 FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP) Not yet recruiting NCT03489993
27 The Impact of Phosphate Metabolism on Healthy Aging Not yet recruiting NCT03771105 Early Phase 1 phosphate
28 Hypocalcemia in Infants and Children Not yet recruiting NCT03685877

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 Affected by disease, potential therapeutic candidate

Publications for Hypophosphatemic Rickets, X-Linked Dominant

Articles related to Hypophosphatemic Rickets, X-Linked Dominant:

(show top 50) (show all 131)
# 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
Defective Mineralization in X-Linked Hypophosphatemia Dental Pulp Cell Cultures. ( 28880715 )
2018
8
Qualitative Research to Explore the Patient Experience of X-Linked Hypophosphatemia and Evaluate the Suitability of the BPI-SF and WOMAC® as Clinical Trial End Points. ( 30098676 )
2018
9
Burosumab in X-linked hypophosphatemia: a profile of its use in the USA. ( 30459508 )
2018
10
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
11
Dental management of patients with X-linked hypophosphatemia. ( 28503481 )
2017
12
Correction to: X-linked hypophosphatemia and growth. ( 29110236 )
2017
13
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
14
Craniofacial and dental characteristics of patients with vitamin-D-dependent rickets type 1A compared to controls and patients with X-linked hypophosphatemia. ( 28608052 )
2017
15
Comparison of calcimimetic R568 and calcitriol in mineral homeostasis in the Hyp mouse, a murine homolog of X-linked hypophosphatemia. ( 28728941 )
2017
16
X-linked hypophosphatemia with enthesopathy. ( 28784895 )
2017
17
Osteopontin and the dento-osseous pathobiology of X-linked hypophosphatemia. ( 27884786 )
2017
18
Hormonal Regulation of Osteocyte Perilacunar and Canalicular Remodeling in the Hyp Mouse Model of X-Linked Hypophosphatemia. ( 29083055 )
2017
19
[Identification of a novel splicing mutation of PHEX gene in a pedigree affected with X-linked hypophosphatemia]. ( 28397222 )
2017
20
Tissue-specific mineralization defects in the periodontium of the Hyp mouse model of X-linked hypophosphatemia. ( 28764922 )
2017
21
Serum calcitriol levels in a patient with X-linked hypophosphatemia complicated by autosomal dominant polycystic kidney disease. ( 28509123 )
2017
22
Hypertension is a characteristic complication of X-linked hypophosphatemia. ( 28025445 )
2017
23
X-linked hypophosphatemia and growth. ( 28130634 )
2017
24
Minimally Invasive Surgical Management of Thoracic Ossification of the Ligamentum Flavum Associated with X-linked Hypophosphatemia. ( 27481600 )
2016
25
Effect of four monthly doses of a human monoclonal anti-FGF23 antibody (KRN23) on quality of life in X-linked hypophosphatemia. ( 28326356 )
2016
26
Impaired quality of life in adults with X-linked hypophosphatemia and skeletal symptoms. ( 26783348 )
2016
27
Phosphate and Vitamin D Prevent Periodontitis in X-Linked Hypophosphatemia. ( 27821544 )
2016
28
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
29
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
30
CRISPR/Cas9-mediated mutation of PHEX in rabbit recapitulates human X-linked hypophosphatemia (XLH). ( 27126636 )
2016
31
Prolonged Correction of Serum Phosphorus in Adults With X-Linked Hypophosphatemia Using Monthly Doses of KRN23. ( 25919461 )
2015
32
Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia. ( 26040324 )
2015
33
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
34
Conventional Therapy in Adults With X-Linked Hypophosphatemia: Effects on Enthesopathy and Dental Disease. ( 26176801 )
2015
35
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
36
Effect of paricalcitol on circulating parathyroid hormone in X-linked hypophosphatemia: a randomized, double-blind, placebo-controlled study. ( 25029424 )
2014
37
Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia. ( 24569459 )
2014
38
High bone mineral apparent density in children with X-linked hypophosphatemia. ( 23389694 )
2013
39
MEPE-derived ASARM peptide inhibits odontogenic differentiation of dental pulp stem cells and impairs mineralization in tooth models of X-linked hypophosphatemia. ( 23451077 )
2013
40
Iron and fibroblast growth factor 23 in X-linked hypophosphatemia. ( 24325979 )
2013
41
Extracellular matrix mineralization in periodontal tissues: Noncollagenous matrix proteins, enzymes, and relationship to hypophosphatasia and X-linked hypophosphatemia. ( 23931057 )
2013
42
Proteolytic processing of osteopontin by PHEX and accumulation of osteopontin fragments in Hyp mouse bone, the murine model of X-linked hypophosphatemia. ( 22991293 )
2013
43
Dosage effect of a Phex mutation in a murine model of X-linked hypophosphatemia. ( 23700148 )
2013
44
A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells. ( 22006791 )
2012
45
Calcitonin administration in X-linked hypophosphatemia. ( 21524226 )
2011
46
A clinician's guide to X-linked hypophosphatemia. ( 21538511 )
2011
47
Autism and X-linked hypophosphatemia: A possible association? ( 20838491 )
2010
48
Circulating levels of soluble klotho and FGF23 in X-linked hypophosphatemia: circadian variance, effects of treatment, and relationship to parathyroid status. ( 20685863 )
2010
49
Treatment of X-linked hypophosphatemia with calcitriol and phosphate increases circulating fibroblast growth factor 23 concentrations. ( 20157195 )
2010
50
Survey of the enthesopathy of X-linked hypophosphatemia and its characterization in Hyp mice. ( 19609735 )
2009

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 rs105751798
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 312)
# 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.755T> C (p.Phe252Ser) single nucleotide variant no interpretation for the single variant rs267606945 GRCh37 Chromosome X, 22112123: 22112123
9 PHEX NM_000444.5(PHEX): c.755T> C (p.Phe252Ser) single nucleotide variant no interpretation for the single variant rs267606945 GRCh38 Chromosome X, 22094005: 22094005
10 PHEX NM_000444.5(PHEX): c.1664T> C (p.Leu555Pro) single nucleotide variant Pathogenic rs137853270 GRCh37 Chromosome X, 22231039: 22231039
11 PHEX NM_000444.5(PHEX): c.1664T> C (p.Leu555Pro) single nucleotide variant Pathogenic rs137853270 GRCh38 Chromosome X, 22212922: 22212922
12 PHEX PHEX, A-G, NT-429 single nucleotide variant Pathogenic
13 PHEX PHEX, IVS7, +1268, G-T single nucleotide variant Pathogenic
14 PHEX NM_000444.5(PHEX): c.1699C> T (p.Arg567Ter) single nucleotide variant Pathogenic rs137853271 GRCh37 Chromosome X, 22231074: 22231074
15 PHEX NM_000444.5(PHEX): c.1699C> T (p.Arg567Ter) single nucleotide variant Pathogenic rs137853271 GRCh38 Chromosome X, 22212957: 22212957
16 PHEX PHEX, IVS4, T-C, +6 single nucleotide variant Pathogenic
17 PHEX NM_000444.5(PHEX): c.759G> A (p.Met253Ile) single nucleotide variant no interpretation for the single variant rs267606946 GRCh37 Chromosome X, 22112127: 22112127
18 PHEX NM_000444.5(PHEX): c.759G> A (p.Met253Ile) single nucleotide variant no interpretation for the single variant rs267606946 GRCh38 Chromosome X, 22094009: 22094009
19 PHEX NM_000444.5(PHEX): c.1404+2T> G single nucleotide variant Likely pathogenic rs193922454 GRCh37 Chromosome X, 22151743: 22151743
20 PHEX NM_000444.5(PHEX): c.1404+2T> G single nucleotide variant Likely pathogenic rs193922454 GRCh38 Chromosome X, 22133626: 22133626
21 PHEX NM_000444.5(PHEX): c.1589G> A (p.Trp530Ter) single nucleotide variant Likely pathogenic rs193922455 GRCh37 Chromosome X, 22208563: 22208563
22 PHEX NM_000444.5(PHEX): c.1589G> A (p.Trp530Ter) single nucleotide variant Likely pathogenic rs193922455 GRCh38 Chromosome X, 22190446: 22190446
23 PHEX NM_000444.5(PHEX): c.1949T> C (p.Leu650Pro) single nucleotide variant Likely pathogenic rs193922456 GRCh37 Chromosome X, 22244609: 22244609
24 PHEX NM_000444.5(PHEX): c.1949T> C (p.Leu650Pro) single nucleotide variant Likely pathogenic rs193922456 GRCh38 Chromosome X, 22226492: 22226492
25 PHEX NM_000444.5(PHEX): c.1999G> T (p.Gly667Ter) single nucleotide variant Likely pathogenic rs193922457 GRCh37 Chromosome X, 22245657: 22245657
26 PHEX NM_000444.5(PHEX): c.1999G> T (p.Gly667Ter) single nucleotide variant Likely pathogenic rs193922457 GRCh38 Chromosome X, 22227540: 22227540
27 PHEX NM_000444.5(PHEX): c.318G> A (p.Trp106Ter) single nucleotide variant Likely pathogenic rs193922458 GRCh37 Chromosome X, 22065298: 22065298
28 PHEX NM_000444.5(PHEX): c.318G> A (p.Trp106Ter) single nucleotide variant Likely pathogenic rs193922458 GRCh38 Chromosome X, 22047180: 22047180
29 PHEX NM_000444.5(PHEX): c.349+1G> C single nucleotide variant Likely pathogenic rs193922459 GRCh37 Chromosome X, 22065330: 22065330
30 PHEX NM_000444.5(PHEX): c.349+1G> C single nucleotide variant Likely pathogenic rs193922459 GRCh38 Chromosome X, 22047212: 22047212
31 PHEX NM_000444.5(PHEX): c.884_885dupCC (p.Met296Profs) duplication Likely pathogenic rs193922460 GRCh37 Chromosome X, 22115107: 22115108
32 PHEX NM_000444.5(PHEX): c.884_885dupCC (p.Met296Profs) duplication Likely pathogenic rs193922460 GRCh38 Chromosome X, 22096989: 22096990
33 PHEX NM_000444.5(PHEX): c.10G> C (p.Glu4Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs147859619 GRCh38 Chromosome X, 22033015: 22033015
34 PHEX NM_000444.5(PHEX): c.10G> C (p.Glu4Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs147859619 GRCh37 Chromosome X, 22051133: 22051133
35 PHEX NM_000444.5(PHEX): c.1735G> A (p.Gly579Arg) single nucleotide variant Pathogenic/Likely pathogenic rs875989883 GRCh37 Chromosome X, 22237187: 22237187
36 PHEX NM_000444.5(PHEX): c.1735G> A (p.Gly579Arg) single nucleotide variant Pathogenic/Likely pathogenic rs875989883 GRCh38 Chromosome X, 22219070: 22219070
37 PHEX NM_000444.5(PHEX): c.1769-10C> T single nucleotide variant Benign rs3752433 GRCh37 Chromosome X, 22239720: 22239720
38 PHEX NM_000444.5(PHEX): c.1769-10C> T single nucleotide variant Benign rs3752433 GRCh38 Chromosome X, 22221603: 22221603
39 PHEX NM_000444.5(PHEX): c.1543C> T (p.Gln515Ter) single nucleotide variant Pathogenic rs886041361 GRCh37 Chromosome X, 22196450: 22196450
40 PHEX NM_000444.5(PHEX): c.1543C> T (p.Gln515Ter) single nucleotide variant Pathogenic rs886041361 GRCh38 Chromosome X, 22178333: 22178333
41 PHEX NM_000444.5(PHEX): c.1779_1782dupTGAT (p.Lys595Terfs) duplication Pathogenic rs886041364 GRCh37 Chromosome X, 22239740: 22239743
42 PHEX NM_000444.5(PHEX): c.1779_1782dupTGAT (p.Lys595Terfs) duplication Pathogenic rs886041364 GRCh38 Chromosome X, 22221623: 22221626
43 PHEX NM_000444.5(PHEX): c.2239C> T (p.Arg747Ter) single nucleotide variant Pathogenic rs886041227 GRCh37 Chromosome X, 22266059: 22266059
44 PHEX NM_000444.5(PHEX): c.2239C> T (p.Arg747Ter) single nucleotide variant Pathogenic rs886041227 GRCh38 Chromosome X, 22247942: 22247942
45 PHEX NM_000444.5(PHEX): c.1601C> T (p.Pro534Leu) single nucleotide variant Pathogenic rs886041363 GRCh37 Chromosome X, 22208575: 22208575
46 PHEX NM_000444.5(PHEX): c.1601C> T (p.Pro534Leu) single nucleotide variant Pathogenic rs886041363 GRCh38 Chromosome X, 22190458: 22190458
47 PHEX NM_000444.5(PHEX): c.1645+1G> A single nucleotide variant Pathogenic rs886041225 GRCh37 Chromosome X, 22208620: 22208620
48 PHEX NM_000444.5(PHEX): c.1645+1G> A single nucleotide variant Pathogenic rs886041225 GRCh38 Chromosome X, 22190503: 22190503
49 PHEX NM_000444.5(PHEX): c.2193delT (p.Phe731Leufs) deletion Pathogenic rs886041631 GRCh37 Chromosome X, 22266013: 22266013
50 PHEX NM_000444.5(PHEX): c.2193delT (p.Phe731Leufs) deletion Pathogenic rs886041631 GRCh38 Chromosome X, 22247896: 22247896

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

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

# Super pathways Score Top Affiliating Genes
1 11.05 FGF23 KL PTH SLC34A1 SLC34A3
2 10.1 FGF23 PTH

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 GO:0005903 9.16 SLC34A1 SLC34A3
2 brush border membrane GO:0031526 8.96 SLC34A1 SLC34A3
3 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 21)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.77 FGF23 KL PTH
2 cellular protein metabolic process GO:0044267 9.72 DMP1 FGF23 SLC34A1
3 fibroblast growth factor receptor signaling pathway GO:0008543 9.59 FGF23 KL
4 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.58 FGF23 KL
5 bone mineralization GO:0030282 9.58 PHEX PTH
6 biomineral tissue development GO:0031214 9.57 DMP1 PHEX
7 positive regulation of bone mineralization GO:0030501 9.56 KL PTH
8 response to cadmium ion GO:0046686 9.54 PTH SLC34A1
9 response to lead ion GO:0010288 9.52 PTH SLC34A1
10 response to vitamin D GO:0033280 9.51 PHEX PTH
11 response to growth hormone GO:0060416 9.49 PHEX SLC34A1
12 response to magnesium ion GO:0032026 9.48 FGF23 SLC34A1
13 cellular response to vitamin D GO:0071305 9.46 FGF23 PHEX
14 phosphate ion transport GO:0006817 9.43 SLC34A1 SLC34A3
15 sodium-dependent phosphate transport GO:0044341 9.4 SLC34A1 SLC34A3
16 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.37 FGF23 KL
17 cellular response to parathyroid hormone stimulus GO:0071374 9.33 FGF23 PHEX SLC34A1
18 response to parathyroid hormone GO:0071107 9.32 PTH SLC34A1
19 response to sodium phosphate GO:1904383 9.26 FGF23 PHEX
20 cellular phosphate ion homeostasis GO:0030643 9.13 FGF23 SLC34A1 SLC34A3
21 phosphate ion homeostasis GO:0055062 8.8 FGF23 PTH SLC34A1

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.32 FGF23 KL
2 1-phosphatidylinositol-3-kinase activity GO:0016303 9.26 FGF23 KL
3 fibroblast growth factor receptor binding GO:0005104 9.16 FGF23 KL
4 sodium:phosphate symporter activity GO:0005436 8.96 SLC34A1 SLC34A3
5 sodium-dependent phosphate transmembrane transporter activity GO:0015321 8.62 SLC34A1 SLC34A3

Sources for Hypophosphatemic Rickets, X-Linked Dominant

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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