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 53 49 71 13 69
X-Linked Hypophosphatemic Rickets 12 23 49 55 14
X-Linked Hypophosphatemia 37 12 23 49 55
Vitamin D-Resistant Rickets, X-Linked 53 12 49 69
Xlh 53 49 55 71
Xlhr 53 23 71
Hpdr 53 49 71
Hyp 53 72 71
Hypophosphatemic Vitamin D-Resistant Rickets 53 71
Familial Hypophosphatemic Rickets 41 69
Hypophosphatemic Vitamin D-Resistant Rickets; Hpdr 53
Hypophosphatemia, Vitamin D-Resistant Rickets 12
Hypophophatemic Vitamin D-Resistant Rickets 49
Hypophosphatemic Rickets X-Linked Dominant 12
X-Linked Vitamin D-Resistant Rickets 23
Vitamin D-Resistant Rickets X-Linked 71
Rickets, X-Linked Hypophosphatemic 69
Hypophosphatemia, X-Linked; Xlh 53
Rickets, Vitamin D-Resistant 12
Vitamin D Resistant Rickets 72
Vitamin D-Resistant Rickets 69
Hypophosphatemia, X-Linked 53
Hypophophatemia, X-Linked 49
Hypophosphatemia X-Linked 71

Characteristics:

Orphanet epidemiological data:

55
x-linked hypophosphatemia
Inheritance: X-linked dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

53
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:

31
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 : 49 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 vitamin d-dependent rickets, type 2a and hereditary hypophosphatemic rickets, and has symptoms including bone pain, joint dislocation and osteoarthritis. An important gene associated with Hypophosphatemic Rickets, X-Linked Dominant is PHEX (Phosphate Regulating Endopeptidase Homolog X-Linked), and among its related pathways/superpathways are Endocrine and other factor-regulated calcium reabsorption and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. The drugs Ergocalciferol and 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

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 : 53 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 : 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.

Wikipedia : 72 X-linked hypophosphatemia (XLH), also called X-linked dominant hypophosphatemic rickets, X-linked... more...

GeneReviews: NBK83985

Related Diseases for Hypophosphatemic Rickets, X-Linked Dominant

Diseases 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 46)
# Related Disease Score Top Affiliating Genes
1 vitamin d-dependent rickets, type 2a 32.3 CYP27B1 VDR
2 hereditary hypophosphatemic rickets 32.3 SLC34A1 SLC34A3
3 hypophosphatemia 28.2 DMP1 FGF23 PHEX PTH SFRP4 SLC34A1
4 rickets 27.8 CYP27B1 DMP1 FGF23 PHEX PTH SLC34A1
5 hypophosphatemic rickets, x-linked recessive 27.2 CYP27B1 DMP1 FGF23 PHEX SFRP4 SLC34A1
6 epidermal nevus vitamin d resistant rickets 12.3
7 opsismodysplasia 10.3 FGF23 PHEX
8 raine syndrome 10.3 DMP1 FGF23
9 nephrolithiasis/osteoporosis, hypophosphatemic, 1 10.3
10 arterial calcification of infancy 10.3 FGF23 PHEX
11 hypercalciuria, absorptive, 2 10.2 SLC34A3 VDR
12 hypercalcemia, infantile, 1 10.2 PTH VDR
13 impaired renal function disease 10.2 FGF23 PTH
14 enthesopathy 10.1 DMP1 FGF23 PHEX
15 tracheal calcification 10.1 FGF23 KL
16 metaphyseal chondrodysplasia, jansen type 10.1 FGF23 PTH
17 autosomal recessive hypophosphatemic rickets 10.1 DMP1 FGF23 PHEX
18 idiopathic hypercalciuria 10.1 SLC34A3 VDR
19 tumoral calcinosis, hyperphosphatemic, familial 10.0 FGF23 KL
20 calciphylaxis 10.0 FGF23 PTH VDR
21 parathyroid gland disease 10.0 FGF23 PTH VDR
22 renal osteodystrophy 10.0 FGF23 PTH VDR
23 primary hyperparathyroidism 10.0 FGF23 PTH VDR
24 fanconi syndrome 9.9 PTH SLC34A1
25 nephrolithiasis, calcium oxalate 9.9 SLC34A1 VDR
26 familial tumoral calcinosis 9.9 FGF23 KL PHEX
27 bone resorption disease 9.9 PTH VDR
28 calcinosis 9.9 FGF23 KL PHEX
29 respiratory failure 9.9
30 bone remodeling disease 9.8 FGF23 PHEX PTH VDR
31 spondylosis 9.8 KL PTH VDR
32 urinary system disease 9.8 FGF23 KL PTH
33 hyperostosis 9.7 FGF23 KL
34 secondary hyperparathyroidism of renal origin 9.7 CYP27B1 FGF23 PTH VDR
35 chronic kidney failure 9.6 CYP27B1 FGF23 PTH VDR
36 pulmonary alveolar microlithiasis 9.6 FGF23 PTH SLC34A1 SLC34A3
37 hypophosphatemic rickets, autosomal dominant 9.5 FGF23 PHEX SFRP4 SLC34A3
38 hypervitaminosis d 9.5 CYP27B1 FGF23 KL PTH
39 hyperparathyroidism 9.4 CYP27B1 FGF23 PHEX PTH VDR
40 osteomalacia 9.3 DMP1 FGF23 PHEX SFRP4 VDR
41 hyperphosphatemia 9.2 FGF23 KL PTH SLC34A1 VDR
42 oncogenic osteomalacia 9.2 DMP1 FGF23 PHEX PTH SFRP4
43 mineral metabolism disease 9.1 FGF23 KL PHEX PTH SLC34A3 VDR
44 osteoporosis 8.8 CYP27B1 FGF23 KL PTH SLC34A1 VDR
45 phosphorus metabolism disease 8.0 CYP27B1 DMP1 FGF23 KL PHEX PTH
46 hypophosphatemic rickets with hypercalciuria, hereditary 7.7 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:

53
Skeletal:
bone pain
joint pain
rickets in children
osteomalacia in adults
osteoarthritis, more common in adults
more
Growth Height:
short stature

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

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 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:

55 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bone pain 55 31 hallmark (90%) Very frequent (99-80%) HP:0002653
2 joint dislocation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001373
3 osteoarthritis 55 31 frequent (33%) Frequent (79-30%) HP:0002758
4 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000365
5 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
6 hypophosphatemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002148
7 rickets 55 31 hallmark (90%) Very frequent (99-80%) HP:0002748
8 abnormality of the metaphysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000944
9 abnormality of dental enamel 55 31 hallmark (90%) Very frequent (99-80%) HP:0000682
10 genu varum 55 31 hallmark (90%) Very frequent (99-80%) HP:0002970
11 osteomalacia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002749
12 recurrent fractures 55 31 occasional (7.5%) Occasional (29-5%) HP:0002757
13 craniosynostosis 55 31 frequent (33%) Frequent (79-30%) HP:0001363
14 bowing of the legs 55 31 Very frequent (99-80%) HP:0002979
15 tooth abscess 55 31 hallmark (90%) Very frequent (99-80%) HP:0030757
16 enthesitis 55 31 frequent (33%) Frequent (79-30%) HP:0100686
17 rachitic rosary 55 31 hallmark (90%) Very frequent (99-80%) HP:0000897
18 arthralgia 31 HP:0002829
19 frontal bossing 31 HP:0002007
20 abnormality of the dentition 55 Very frequent (99-80%)
21 renal tubular dysfunction 31 HP:0000124
22 elevated circulating parathyroid hormone level 31 HP:0003165
23 spinal canal stenosis 31 HP:0003416
24 abnormality of pelvic girdle bone morphology 31 HP:0002644
25 femoral bowing 31 HP:0002980
26 elevated alkaline phosphatase 31 HP:0003155
27 tibial bowing 31 HP:0002982
28 spinal cord compression 31 HP:0002176
29 hypophosphatemic rickets 31 HP:0004912
30 fibular bowing 31 HP:0010502
31 renal phosphate wasting 31 HP:0000117
32 metaphyseal irregularity 31 HP:0003025
33 hypomineralization of enamel 31 HP:0006285
34 trapezoidal distal femoral condyles 31 HP:0006432
35 shortening of the talar neck 31 HP:0008117
36 flattening of the talar dome 31 HP:0008144

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


bone pain, arthralgia

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

43 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.13 PHEX FGF23 PTH CYP27B1 KL DMP1
2 homeostasis/metabolism MP:0005376 10.07 DMP1 PHEX FGF23 PTH CYP27B1 KL
3 cardiovascular system MP:0005385 10.04 DMP1 FGF23 CYP27B1 KL PTH VDR
4 hematopoietic system MP:0005397 10.01 DMP1 PHEX FGF23 PTH CYP27B1 KL
5 craniofacial MP:0005382 9.95 DMP1 PHEX PTH CYP27B1 KL VDR
6 digestive/alimentary MP:0005381 9.93 PHEX FGF23 KL SLC34A3 VDR SFRP4
7 immune system MP:0005387 9.92 DMP1 PHEX FGF23 PTH CYP27B1 KL
8 limbs/digits/tail MP:0005371 9.86 FGF23 PTH CYP27B1 KL DMP1 PHEX
9 renal/urinary system MP:0005367 9.81 FGF23 CYP27B1 KL DMP1 PHEX SLC34A3
10 reproductive system MP:0005389 9.43 FGF23 CYP27B1 KL SLC34A1 VDR SFRP4
11 skeleton MP:0005390 9.32 FGF23 PTH CYP27B1 KL DMP1 PHEX

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 28)
# 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
23 Autonomic Agents
24 Cholinergic Agents
25 Methacholine Chloride
26 Neurotransmitter Agents
27 Peripheral Nervous System Agents
28 Respiratory System Agents

Interventional clinical trials:

(show all 20)

# 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 A Study of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Active, not recruiting NCT03233126 Phase 3 KRN23
4 Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02526160 Phase 3
5 Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02537431 Phase 3
6 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
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 (PD) 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) Active, not recruiting 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 Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent Patients Completed NCT01578824
19 Magnesium Treatment on Vitamin D Metabolism in Participants Completed Personalized Prevention of Colorectal Cancer Trial Completed NCT03265483
20 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

Anatomical Context for Hypophosphatemic Rickets, X-Linked Dominant

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

38
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 60)
# Title Authors Year
1
Effects of growth hormone treatment on adult height in severely short children with X-linked hypophosphatemic rickets. ( 29058153 )
2018
2
Evaluation of bone mineral density and microarchitectural parameters by DXA and HR-pQCT in 37 children and adults with X-linked hypophosphatemic rickets. ( 28194480 )
2017
3
[Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases]. ( 28506344 )
2017
4
Two-year recombinant human growth hormone (rhGH) treatment is more effective in pre-pubertal compared to pubertal short children with X-linked hypophosphatemic rickets (XLHR). ( 28822957 )
2017
5
Magnetic Resonance Imaging Features as Surrogate Markers of X-Linked Hypophosphatemic Rickets Activity. ( 28376474 )
2017
6
Spontaneous Growth and Effect of Early Therapy with Calcitriol and Phosphate in X-linked Hypophosphatemic Rickets. ( 29292875 )
2017
7
X-linked Hypophosphatemic Rickets, del(2)(q37.1;q37.3) Deletion Syndrome and Mosaic Turner Syndrome, mos 45,X/46,X, del(2)(q37.1;q37.3) in a 3-year-old Female. ( 29259966 )
2017
8
X-linked hypophosphatemic rickets (PHEX mutation): A case report and literature review. ( 29213174 )
2017
9
Contemporary Medical and Surgical Management of X-linked Hypophosphatemic Rickets. ( 26040953 )
2015
10
X-linked hypophosphatemic rickets and sagittal craniosynostosis: three patients requiring operative cranial expansion: case series and literature review. ( 26510652 )
2015
11
Cervical ossification of posterior longitudinal ligament in x-linked hypophosphatemic rickets revealing homogeneously increased vertebral bone density. ( 25705343 )
2015
12
Genetic Testing Confirmed the Early Diagnosis of X-Linked Hypophosphatemic Rickets in a 7-Month-Old Infant. ( 26904698 )
2015
13
Identification of a novel PHEX mutation in a Chinese family with X-linked hypophosphatemic rickets using exome sequencing. ( 25060345 )
2015
14
A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets. ( 25861491 )
2015
15
X-linked hypophosphatemic rickets: enamel abnormalities and oral clinical findings. ( 24677288 )
2014
16
X-linked hypophosphatemic rickets: case report. ( 24684036 )
2014
17
Cervical spinal cord compression caused by X-linked hypophosphatemic rickets with a novel PHEX mutation. ( 25237965 )
2014
18
PHEX gene mutation in a Chinese family with six cases of X-linked hypophosphatemic rickets. ( 23813354 )
2013
19
X-linked hypophosphatemic rickets. ( 23848049 )
2013
20
Cortical and trabecular bone density in X-linked hypophosphatemic rickets. ( 23533226 )
2013
21
The muscle-bone relationship in X-linked hypophosphatemic rickets. ( 23526465 )
2013
22
Bilateral coronal and sagittal synostosis in X-linked hypophosphatemic rickets: a case report. ( 23466123 )
2013
23
Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment. ( 22101457 )
2012
24
Novel PHEX nonsense mutation in a patient with X-linked hypophosphatemic rickets and review of current therapeutic regimens. ( 21553362 )
2011
25
Tertiary hyperparathyroidism in a patient with X-linked hypophosphatemic rickets. ( 21885902 )
2011
26
Papilledema in the setting of x-linked hypophosphatemic rickets with craniosynostosis. ( 22220162 )
2011
27
Three-year growth hormone treatment in short children with X-linked hypophosphatemic rickets: effects on linear growth and body disproportion. ( 21994957 )
2011
28
Age-related stature and linear body segments in children with X-linked hypophosphatemic rickets. ( 21120538 )
2011
29
Novel PHEX gene mutation associated with X linked hypophosphatemic rickets. ( 20664300 )
2010
30
Cinacalcet in hyperparathyroidism secondary to X-linked hypophosphatemic rickets: case report and brief literature review. ( 20688626 )
2010
31
Prenatal diagnosis for a novel splice mutation of PHEX gene in a large Han Chinese family affected with X-linked hypophosphatemic rickets. ( 20578943 )
2010
32
Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets. ( 19513579 )
2009
33
The use of pre-operative imaging and intraoperative parathyroid hormone level to guide surgical management of tertiary hyperparathyroidism from X-linked hypophosphatemic rickets: a case report. ( 19918472 )
2009
34
An unusual case of autonomous hyperparathyroidism in a patient with X-linked hypophosphatemic rickets and Kallmann syndrome. ( 19214032 )
2009
35
X-linked hypophosphatemic rickets and craniosynostosis. ( 19242361 )
2009
36
Metabolic control and growth during exclusive growth hormone treatment in X-linked hypophosphatemic rickets. ( 18204268 )
2008
37
A case of X-linked hypophosphatemic rickets: complications and the therapeutic use of cinacalcet. ( 18775977 )
2008
38
Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets. ( 18625346 )
2008
39
X-linked hypophosphatemic rickets associated with respiratory failure. ( 18057152 )
2008
40
Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene. ( 18252791 )
2008
41
Growth in X-linked hypophosphatemic rickets. ( 17171343 )
2007
42
Sagittal synostosis in X-linked hypophosphatemic rickets and related diseases. ( 17551721 )
2007
43
Prevalence and pathogenesis of dental and periodontal lesions in children with X-linked hypophosphatemic rickets. ( 16842025 )
2006
44
Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets. ( 16636593 )
2006
45
Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait. ( 16303832 )
2006
46
Dental alterations associated with X-linked hypophosphatemic rickets. ( 15085056 )
2004
47
Genetic advances, biochemical and clinical features and critical approach to treatment of patients with X-linked hypophosphatemic rickets. ( 16437029 )
2004
48
Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. ( 11502829 )
2001
49
Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. ( 11004247 )
2000
50
A PHEX gene mutation is responsible for adult-onset vitamin D- resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets. ( 9768646 )
1998

Variations for Hypophosphatemic Rickets, X-Linked Dominant

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

71 (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 126)
# 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.1543C> T (p.Gln515Ter) single nucleotide variant Pathogenic rs886041361 GRCh37 Chromosome X, 22196450: 22196450
20 PHEX NM_000444.5(PHEX): c.1779_1782dupTGAT (p.Lys595Terfs) duplication Pathogenic rs886041364 GRCh37 Chromosome X, 22239743: 22239743
21 PHEX NM_000444.5(PHEX): c.2239C> T (p.Arg747Ter) single nucleotide variant Pathogenic rs886041227 GRCh37 Chromosome X, 22266059: 22266059
22 PHEX NM_000444.5(PHEX): c.1601C> T (p.Pro534Leu) single nucleotide variant Pathogenic rs886041363 GRCh37 Chromosome X, 22208575: 22208575
23 PHEX NM_000444.5(PHEX): c.1645+1G> A single nucleotide variant Pathogenic rs886041225 GRCh37 Chromosome X, 22208620: 22208620
24 PHEX NM_000444.5(PHEX): c.2193delT (p.Phe731Leufs) deletion Pathogenic rs886041631 GRCh37 Chromosome X, 22266013: 22266013
25 PHEX NM_000444.5(PHEX): c.2071-1G> A single nucleotide variant Pathogenic rs886041374 GRCh37 Chromosome X, 22263449: 22263449
26 PHEX NM_000444.5(PHEX): c.1367G> A (p.Trp456Ter) single nucleotide variant Pathogenic rs886041359 GRCh37 Chromosome X, 22151704: 22151704
27 PHEX NM_000444.5(PHEX): c.1979G> A (p.Trp660Ter) single nucleotide variant Pathogenic rs886041369 GRCh37 Chromosome X, 22245637: 22245637
28 PHEX NM_000444.5(PHEX): c.2104C> T (p.Arg702Ter) single nucleotide variant Pathogenic rs886041226 GRCh37 Chromosome X, 22263483: 22263483
29 PHEX NM_000444.5(PHEX): c.67delC (p.Leu23Trpfs) deletion Pathogenic rs886043584 GRCh38 Chromosome X, 22033072: 22033072
30 PHEX NM_000444.5(PHEX): c.871C> T (p.Arg291Ter) single nucleotide variant Pathogenic rs866429868 GRCh37 Chromosome X, 22115094: 22115094
31 PHEX NM_000444.5(PHEX): c.58C> T (p.Arg20Ter) single nucleotide variant Pathogenic rs770573978 GRCh37 Chromosome X, 22051181: 22051181
32 PHEX NM_000444.5(PHEX): c.682_683delTC (p.Ser228Profs) deletion Pathogenic rs1064793956 GRCh38 Chromosome X, 22090447: 22090448
33 PHEX NM_000444.5(PHEX): c.1366T> C (p.Trp456Arg) single nucleotide variant Pathogenic/Likely pathogenic rs1085308012 GRCh37 Chromosome X, 22151703: 22151703
34 PHEX NM_000444.5(PHEX): c.118+1G> T single nucleotide variant Pathogenic rs1131691731 GRCh37 Chromosome X, 22051242: 22051242
35 PHEX NC_000023.10 deletion Pathogenic GRCh37 Chromosome X, 22132705: 22186428
36 PHEX NC_000023.10: g.22114640_22150788del36149 deletion Pathogenic GRCh37 Chromosome X, 22114640: 22150788
37 PHEX NG_007563.2: g.(5322_10666)_(10736_19247)del deletion Pathogenic GRCh37 Chromosome X, 22051242: 22065167
38 PHEX NG_007563.2: g.(19410_48585)_(49901_62626)del deletion Pathogenic GRCh37 Chromosome X, 22065330: 22108546
39 PHEX NG_007563.2: g.(48673_49673)_(49901_62626)del deletion Pathogenic GRCh37 Chromosome X, 22094593: 22108546
40 PHEX NG_007563.2: g.(49901_62626)_(62696_66180)del deletion Pathogenic GRCh37 Chromosome X, 22095821: 22112100
41 PHEX NG_007563.2: g.(69237_71229)_(71350_83664)del deletion Pathogenic GRCh37 Chromosome X, 22115157: 22129584
42 PHEX NG_007563.2: g.(71350_83664)_(86785_95770)del deletion Pathogenic GRCh37 Chromosome X, 22117270: 22151639
43 PHEX NG_007563.2: g.(140587_150469)_(185156_191232)del deletion Pathogenic GRCh37 Chromosome X, 22186507: 22237152
44 PHEX NC_000023.11: g.(22190503_22212930)_(22247953_?)del deletion Pathogenic GRCh37 Chromosome X, 22208620: 22266070
45 PHEX NG_007563.2: g.(191301_193809)_(193941_198639)del deletion Pathogenic GRCh37 Chromosome X, 22237221: 22244559
46 PHEX NC_000023.11: g.(22219104_22221612)_(22247953_?)del deletion Pathogenic GRCh37 Chromosome X, 22237221: 22266070
47 PHEX NC_000023.11: g.(22221744_22226442)_(22247953_?)del deletion Pathogenic GRCh37 Chromosome X, 22239861: 22266070
48 PHEX NC_000023.11: g.(22227612_22245332)_(22247953_?)del deletion Pathogenic GRCh37 Chromosome X, 22245729: 22266070
49 PHEX NC_000023.11: g.(?_22033006)_(22033124_22038468)del deletion Pathogenic GRCh37 Chromosome X, 22051124: 22056586
50 PHEX NM_000444.5(PHEX): c.78dup (p.Val27Cysfs) duplication Pathogenic GRCh37 Chromosome X, 22051201: 22051201

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 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)
# 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 magnesium ion GO:0032026 9.55 FGF23 SLC34A1
15 response to growth hormone GO:0060416 9.54 PHEX SLC34A1
16 cellular response to vitamin D GO:0071305 9.52 FGF23 PHEX
17 vitamin D metabolic process GO:0042359 9.51 CYP27B1 FGF23
18 response to vitamin D GO:0033280 9.5 CYP27B1 PHEX PTH
19 phosphate ion transport GO:0006817 9.49 SLC34A1 SLC34A3
20 sodium-dependent phosphate transport GO:0044341 9.48 SLC34A1 SLC34A3
21 response to parathyroid hormone GO:0071107 9.46 PTH SLC34A1
22 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.43 FGF23 KL
23 cellular phosphate ion homeostasis GO:0030643 9.43 FGF23 SLC34A1 SLC34A3
24 vitamin D catabolic process GO:0042369 9.4 CYP27B1 FGF23
25 response to sodium phosphate GO:1904383 9.37 FGF23 PHEX
26 cellular response to parathyroid hormone stimulus GO:0071374 9.33 FGF23 PHEX SLC34A1
27 phosphate ion homeostasis GO:0055062 9.13 FGF23 SFRP4 SLC34A1
28 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 8.8 CYP27B1 FGF23 VDR

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

# 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

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