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XLHR
MCID: HYP609
MIFTS: 66

Hypophosphatemic Rickets, X-Linked Dominant (XLHR)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Hypophosphatemic Rickets, X-Linked Dominant

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

Name: Hypophosphatemic Rickets, X-Linked Dominant 57 19 73 12 71
X-Linked Hypophosphatemia 11 24 19 58 75
Vitamin D-Resistant Rickets, X-Linked 57 11 19 71
Xlh 57 19 58 73
Hypophosphatemic Vitamin D-Resistant Rickets 57 73 5
X-Linked Hypophosphatemic Rickets 24 19 58
Xlhr 57 24 73
Hpdr 57 19 73
Hyp 57 75 73
X-Linked Dominant Hypophosphatemic Rickets 11 14
Familial Hypophosphatemic Rickets 43 71
Hypophosphatemia, Vitamin D-Resistant Rickets 11
Hypophophatemic Vitamin D-Resistant Rickets 19
Hypophosphatemic Rickets X-Linked Dominant 11
X-Linked Vitamin D-Resistant Rickets 24
Vitamin D-Resistant Rickets X-Linked 73
Rickets, X-Linked Hypophosphatemic 71
Vitamin D-Resistant Rickets 71
Hypophosphatemia, X-Linked 57
Hypophophatemia, X-Linked 19
Hypophosphatemia X-Linked 73

Characteristics:


Inheritance:

Hypophosphatemic Rickets, X-Linked Dominant: X-linked dominant 57
X-Linked Hypophosphatemia: X-linked dominant 58

Prevelance:

X-Linked Hypophosphatemia: 1-9/100000 (Norway, United Kingdom, Europe, Worldwide, Worldwide) 58

Age Of Onset:

X-Linked Hypophosphatemia: Childhood,Infancy 58

OMIM®:

57 (Updated 08-Dec-2022)
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


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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Nephrological diseases Bone diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare renal diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0050445
OMIM® 57 307800
OMIM Phenotypic Series 57 PS193100
MeSH 43 D053098
NCIt 49 C85234
ICD10 via Orphanet 32 E83.3
UMLS via Orphanet 72 C0733682 C3536984 C3540852
Orphanet 58 ORPHA89936
MedGen 40 C0733682
UMLS 71 C0733682 C1845168 C2363065 more
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Summaries for Hypophosphatemic Rickets, X-Linked Dominant

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GARD: 19 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 genetic changes in the PHEX gene on the X chromosome, and inheritance is X-linked dominant.

MalaCards based summary: Hypophosphatemic Rickets, X-Linked Dominant, also known as x-linked hypophosphatemia, is related to vitamin d-dependent rickets, type 2a and hypophosphatemia, and has symptoms including arthralgia and bone pain. An important gene associated with Hypophosphatemic Rickets, X-Linked Dominant is PHEX (Phosphate Regulating Endopeptidase X-Linked), and among its related pathways/superpathways are Signaling by Receptor Tyrosine Kinases and Negative regulation of FGFR1 signaling. The drugs Cholecalciferol and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include Kidney, bone and spinal cord, and related phenotypes are hypophosphatemia and rickets

UniProtKB/Swiss-Prot: 73 A disorder characterized by impaired phosphate uptake in the kidney, which is likely to be caused by abnormal regulation of sodium phosphate cotransport in the proximal tubules. Clinical manifestations include skeletal deformities, growth failure, craniosynostosis, paravertebral calcifications, pseudofractures in lower extremities, and muscular hypotonia with onset in early childhood. X-linked hypophosphatemic rickets is the most common form of hypophosphatemia with an incidence of 1 in 20000.

OMIM®: 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) (Updated 08-Dec-2022)

Disease Ontology: 11 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.

Orphanet: 58 A rare hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.

Wikipedia: 75 X-linked hypophosphatemia (XLH) is an X-linked dominant form of rickets (or osteomalacia) that differs... more...

GeneReviews: NBK83985
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Related Diseases for Hypophosphatemic Rickets, X-Linked Dominant

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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 244)
# Related Disease Score Top Affiliating Genes
1 vitamin d-dependent rickets, type 2a 31.8 SLC34A3 PTH PTCHD1-AS PHEX FGF23 FAM20C
2 hypophosphatemia 30.8 SPP1 SOST SLC34A3 SLC34A1 PTH PHEX
3 osteogenesis imperfecta, type vi 30.7 SOST PHEX MEPE
4 nevus, epidermal 30.6 PTH PHEX MEPE FGFR1 FGF23 ENPP1
5 dental pulp necrosis 30.6 MEPE DMP1
6 dentin dysplasia 30.5 SPP1 MEPE DMP1
7 nephrocalcinosis 30.5 SPP1 SLC34A3 SLC34A1 PHEX
8 hypophosphatemic rickets, autosomal dominant 30.4 SLC34A3 PTH PTCHD1-AS PHEX MEPE KL
9 endosteal hyperostosis, autosomal dominant 30.4 SOST PTH PHEX
10 hypervitaminosis d 30.4 PTH KL GALNT3 FGF23 CYP27B1
11 secondary hyperparathyroidism 30.3 PTH KL FGF23 CYP27B1
12 hypophosphatasia, adult 30.3 PTH ENPP1 ALPL
13 hyperparathyroidism 30.2 SOST PTH PHEX KL FGF23 CYP27B1
14 schimmelpenning-feuerstein-mims syndrome 30.1 SLC34A3 PTH PHEX MEPE KL GALNT3
15 vitamin d hydroxylation-deficient rickets, type 1a 30.1 PTH PHEX FGF23 DMP1 CYP27B1
16 vitamin d-dependent rickets 30.1 SLC34A3 SLC34A1 PTH PHEX FGF23 ENPP1
17 hyperostosis 30.0 SPP1 SOST KL GALNT3 FGF23 ALPL
18 diffuse idiopathic skeletal hyperostosis 30.0 SOST PTH ENPP1
19 sclerosteosis 1 30.0 SOST DMP1
20 sclerosteosis 30.0 SOST PTH MEPE
21 primary hyperparathyroidism 29.9 SOST PTH KL FGF23 CYP27B1
22 chronic kidney disease 29.9 SPP1 SOST PTH KL FGF23 ENPP1
23 hyperphosphatemia 29.9 SPP1 SLC34A1 PTH PHEX KL GALNT3
24 polycystic kidney disease 29.8 PTH KL FGF23 ENPP1
25 calcinosis 29.8 SPP1 PHEX MEPE KL GALNT3 FGF23
26 parathyroid gland disease 29.8 SOST PTH PHEX KL FGF23 EMP1
27 nephrolithiasis 29.8 SPP1 SLC34A3 SLC34A1 PTH FGF23
28 brittle bone disorder 29.8 SPP1 SOST PTH PHEX MEPE FGF23
29 ankylosis 29.8 SPP1 SOST FGFR1 ENPP1 ALPL
30 hypophosphatasia 29.7 SPP1 SOST PTH PHEX FGF23 ENPP1
31 hypophosphatemic rickets, x-linked recessive 29.5 SLC34A3 SLC34A1 PTCHD1-AS PHEX-AS1 PHEX MEPE
32 craniosynostosis 29.4 SPP1 PHEX FGFR4 FGFR1 FGF23 ENPP1
33 enthesopathy 29.3 SOST SLC34A3 PTH PHEX MEPE KL
34 bone disease 29.3 SPP1 SOST PTH PHEX FGFR1 FGF23
35 kidney disease 29.2 SPP1 SOST PTH KL FGF23 ENPP1
36 rickets 29.0 SPP1 SLC34A3 SLC34A1 PTH PHEX MEPE
37 autosomal recessive hypophosphatemic rickets 28.9 SLC34A3 SLC34A1 PTH PHEX MEPE KL
38 osteomalacia 28.9 SOST SLC34A3 SLC34A1 PTH PHEX MEPE
39 dental abscess 28.8 SLC34A3 SLC34A1 PTH PHEX MEPE KL
40 axial osteomalacia 10.9
41 helix syndrome 10.4
42 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3
43 trichohepatoenteric syndrome 1 10.3
44 hypophosphatemic rickets and hyperparathyroidism 10.3
45 papilledema 10.3
46 intracranial hypertension 10.3
47 blount's disease 10.3 SLC34A3 FGF23 EMP1
48 ossifying fibroma 10.3 PTH MEPE FGF23
49 osteoblastoma 10.3 PTH MEPE FGF23
50 serous labyrinthitis 10.3 SLC34A3 MEPE FAM20C

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



Diseases related to Hypophosphatemic Rickets, X-Linked Dominant
Sources

Symptoms & Phenotypes for Hypophosphatemic Rickets, X-Linked Dominant

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

58 30 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypophosphatemia 58 30 Very rare (1%) Very frequent (99-80%)
 HP:0002148
2 rickets 58 30 Very rare (1%) Very frequent (99-80%)
 HP:0002748
3 hypocalciuria 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0003127
4 renal phosphate wasting 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000117
5 elevated circulating alkaline phosphatase concentration 30 Hallmark (90%) HP:0003155
6 abnormal lower-limb metaphysis morphology 30 Hallmark (90%) HP:0006490
7 genu valgum 58 30 Very rare (1%) Frequent (79-30%)
 HP:0002857
8 arthralgia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002829
9 genu varum 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002970
10 bone pain 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002653
11 tooth abscess 58 30 Frequent (33%) Frequent (79-30%)
 HP:0030757
12 disproportionate short stature 58 30 Frequent (33%) Frequent (79-30%)
 HP:0003498
13 rachitic rosary 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000897
14 delayed ability to walk 58 30 Frequent (33%) Frequent (79-30%)
 HP:0031936
15 delayed ability to stand 58 30 Frequent (33%) Frequent (79-30%)
 HP:0025335
16 upper limb metaphyseal widening 58 30 Frequent (33%) Frequent (79-30%)
 HP:0003856
17 shortening of the talar neck 58 30 Frequent (33%) Frequent (79-30%)
 HP:0008117
18 flattening of the talar dome 58 30 Frequent (33%) Frequent (79-30%)
 HP:0008144
19 odontodysplasia 30 Frequent (33%) HP:0000694
20 abnormal epiphysis morphology 30 Frequent (33%) HP:0005930
21 frontal bossing 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002007
22 arthritis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001369
23 craniosynostosis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001363
24 limitation of joint mobility 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001376
25 enthesitis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0100686
26 enlargement of the costochondral junction 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000920
27 beaded ribs 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000923
28 trapezoidal distal femoral condyles 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0006432
29 vertebral hyperostosis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0008442
30 sacroiliac joint synovitis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0012449
31 thick growth plates 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0025369
32 flared iliac wing 30 Occasional (7.5%) HP:0002869
33 sensorineural hearing impairment 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0000407
34 cellulitis 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0100658
35 generalized osteosclerosis 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0005789
36 femoral bowing 30 Very rare (1%) HP:0002980
37 chiari malformation 30 Very rare (1%) HP:0002308
38 bowing of the legs 58 30 Frequent (79-30%)
 HP:0002979
39 bowing of the long bones 58 Frequent (79-30%)
40 short stature 30 HP:0004322
41 renal tubular dysfunction 30 HP:0000124
42 reduced bone mineral density 58 Frequent (79-30%)
43 growth delay 58 Frequent (79-30%)
44 osteomalacia 30 HP:0002749
45 abnormality of epiphysis morphology 58 Frequent (79-30%)
46 spinal canal stenosis 30 HP:0003416
47 arnold-chiari malformation 58 Very rare (<4-1%)
48 osteoarthritis 30 HP:0002758
49 tibial bowing 30 HP:0002982
50 flared iliac wings 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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

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

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

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

Skeletal Pelvis:
flaring of the iliac wings

Growth Height:
short stature

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

Growth Other:
growth retardation

Skeletal Skull:
increased anteroposterior skull length

Clinical features from OMIM®:

307800 (Updated 08-Dec-2022)

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


arthralgia; bone pain

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

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.39 ALPL CYP27B1 DMP1 EMP1 ENPP1 FAM20C
2 growth/size/body region MP:0005378 10.34 ALPL CYP27B1 DMP1 ENPP1 FAM20C FGF23
3 renal/urinary system MP:0005367 10.27 CYP27B1 DMP1 ENPP1 FAM20C FGF23 FGFR1
4 limbs/digits/tail MP:0005371 10.26 ALPL CYP27B1 DMP1 ENPP1 FAM20C FGF23
5 cellular MP:0005384 10.13 ALPL CYP27B1 DMP1 ENPP1 FAM20C FGFR1
6 craniofacial MP:0005382 10.11 ALPL CYP27B1 DMP1 ENPP1 FAM20C FGFR1
7 immune system MP:0005387 10.1 ALPL CYP27B1 DMP1 ENPP1 FAM20C FGF23
8 digestive/alimentary MP:0005381 10.01 ALPL FAM20C FGF23 FGFR1 GALNT3 KL
9 skeleton MP:0005390 9.86 ALPL CYP27B1 DMP1 ENPP1 FAM20C FGF23
10 reproductive system MP:0005389 9.85 ALPL CYP27B1 FAM20C FGF23 FGFR1 FGFR4
11 hematopoietic system MP:0005397 9.44 ALPL CYP27B1 DMP1 FAM20C FGF23 FGFR1
Sources

Drugs & Therapeutics for Hypophosphatemic Rickets, X-Linked Dominant

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

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 4 67-97-0, 1406-16-2 5280795 10883523
2 Immunologic Factors Phase 4
3 Antibodies, Monoclonal Phase 4
4 Vitamins Phase 4
5 Trace Elements Phase 4
6 Calciferol Phase 4
7 Vasoconstrictor Agents Phase 4
8 Micronutrients Phase 4
9 Immunoglobulins Phase 4
10 Pharmaceutical Solutions Phase 4
11 Antibodies Phase 4
12
Parathyroid hormone Approved, Investigational Phase 3 9002-64-6
13
Sodium fluoride Approved Phase 3 7681-49-4
14 Mitogens Phase 3
15 Listerine Phase 3
16 Fluorides, Topical Phase 3
17 Fluorides Phase 3
18 Protective Agents Phase 3
19 Immunoglobulins, Intravenous Phase 1, Phase 2
20 Immunoglobulin Fc Fragments Phase 1, Phase 2
21
Sevelamer Approved 52757-95-6 3085017
22
Salmon calcitonin Approved, Investigational 47931-85-1 155817456
23
Sodium citrate Approved, Investigational 68-04-2 23431961
24
Ferrous gluconate Approved 299-29-6
25
Iron Approved 7439-89-6 29936
26
Alfacalcidol Approved, Nutraceutical 41294-56-8 5282181
27
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
28
Calcitonin gene-related peptide Investigational 83652-28-2 91976570
29 Hydroxycholecalciferols
30 Chelating Agents
31
Calcitonin
32 Vasodilator Agents
33 Katacalcin 16172926
34 Citrate
35 Neurotransmitter Agents
36
Methacholine Chloride
37 Respiratory System Agents
38 Muscarinic Agonists
39 Cholinergic Agents
40 Iron Supplement
41 Hematinics
42 Dihydroxycholecalciferols Early Phase 1
43 Radiopharmaceuticals

Interventional clinical trials:

(show top 50) (show all 53)
# Name Status NCT ID Phase Drugs
1 12-months of Treatment With Burosumab in Children and Adolescents With X-linked Hypophosphatemia: a Prospective Longitudinal Cohort Study Unknown status NCT04419363 Phase 4 Burosumab Injection
2 Examining the Effect of Burosumab on Muscle Function Using MR Spectroscopy Completed NCT04146935 Phase 4 Burosumab Injection [Crysvita]
3 Comparing the Effectiveness of High or Low Dose of Active Vitamin D Combined With Neutral Phosphate in Children With X-linked Hypophosphatemia Recruiting NCT03820518 Phase 4 Calcitriol
4 An Open-label, Multi-center, Single-cohort, Post-marketing Phase 4 Study to Evaluate the Efficacy, Pharmacodynamics, and Safety of the Anti-FGF23 Antibody, KRN23, in Pediatric Chinese Patients With X-linked Hypophosphatemic Rickets/Osteomalacia (XLH) Recruiting NCT04842032 Phase 4 KRN23
5 An Open-label, Multi-center, Single-cohort, Post-marketing Phase 4 Study to Evaluate the Efficacy, Pharmacodynamics, and Safety of the Anti-FGF23 Antibody, KRN23, in Adult Chinese Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Recruiting NCT04842019 Phase 4 KRN23
6 A Phase 3b Open-label Study of the Anti-FGF23 Antibody, Burosumab (KRN23) in Adult Patients With X-linked Hypophosphatemia (XLH) Completed NCT03920072 Phase 3 Burosumab
7 An Open-Label, Single-Arm, Phase 3 Study to Evaluate the Effects of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH) Completed NCT02537431 Phase 3
8 A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Study With Open-Label Extension to Assess the Efficacy and Safety of KRN23 in Adults With X-linked Hypophosphatemia (XLH) Completed NCT02526160 Phase 3
9 A Randomized, Open-Label, Phase 3 Study to Assess the Efficacy and Safety of KRN23 Versus Oral Phosphate and Active Vitamin D Treatment in Pediatric Patients With X Linked Hypophosphatemia (XLH) Completed NCT02915705 Phase 3 Oral Phosphate Supplement;active vitamin D
10 A Phase 3 Open-Label Trial to Assess the Efficacy and Safety of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia and a Postmarketing Study of KRN23 Switched From the Phase 3 Trial Completed NCT03233126 Phase 3 KRN23
11 The Role of Parathyroid Hormone in the Pathogenesis of Skeletal Disease in X-linked Hypophosphatemic Rickets (XLH) Completed NCT00417612 Phase 3 Paricalcitol
12 A Phase 3 Long-term Extension Study of KRN23 in Patients With X-linked Hypophosphatemic Rickets/Osteomalacia and a Post-marketing Study of KRN23 Switched From the Phase 3 Long-term Extension Study Completed NCT04308096 Phase 3 KRN23
13 An Open Label Trial to Assess the Safety and Efficacy of Burosumab (KRN23), an Investigational Antibody to FGF23, in a Single Pediatric Patient With Epidermal Nevus Syndrome(ENS) and Associated Hypophosphatemic Rickets Completed NCT03581591 Phase 3
14 Therapeutic Use of Oral Sodium Phosphate (Z-521) in Primary Hypophosphatemic Rickets Completed NCT01237288 Phase 3 Z-521
15 An Investigator-sponsored Phase 3b Open-label Study of Anti- FGF23 Antibody Burosumab (KRN23) in Adult Patients With Xlinked Hypophosphatemia (XLH) in GERmany - BurGER Active, not recruiting NCT04695860 Phase 3 Burosumab
16 Prevention of Spontaneous Dental Abscesses in Children With X-linked Hypophosphatemia: a Multicentre Randomized Controlled Trial Not yet recruiting NCT04872907 Phase 3 flowable composite
17 An Open-Label, Phase 2 Study to Assess the Safety, Pharmacodynamics, and Efficacy of KRN23 in Children From 1 to 4 Years Old With X-linked Hypophosphatemia (XLH) Completed NCT02750618 Phase 2
18 A Phase 2b, Open-Label, Long-Term Extension Study to Evaluate the Safety and Pharmacodynamics of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH) Completed NCT02312687 Phase 2
19 A Randomized, Open-Label, Dose Finding, Phase 2 Study to Assess the Pharmacodynamics and Safety of the Anti-FGF23 Antibody, KRN23, in Pediatric Patients With X-linked Hypophosphatemia (XLH) Completed NCT02163577 Phase 2
20 A Phase I/II, Open-Label, Repeat-Dose, Dose-Escalation Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia Completed NCT01340482 Phase 1, Phase 2 KRN23
21 An Open-Label, Long-Term, Extension Study to Evaluate the Safety and Efficacy of KRN23 in Adult Subjects With X-Linked Hypophosphatemia Completed NCT01571596 Phase 1, Phase 2 KRN23
22 Proposition Pour un Traitement Par Hormone de Croissance Des Enfants Atteints de Rachitisme Hypophosphatemique Familial Completed NCT02720770 Phase 1, Phase 2 norditropine simplex
23 A Phase 1/2, Open-Label, Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of INZ-701 Followed by an Open-Label Long-Term Extension Period in Adults With ENPP1 Deficiency Recruiting NCT04686175 Phase 1, Phase 2 INZ-701
24 A Phase 1/2, Open-label, Multicenter, Non-randomized Study to Assess the Safety, Tolerability, Pharmacokinetics and Efficacy of Burosumab in Pediatric Patients From Birth to Less Than 1 Year of Age With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT04188964 Phase 1, Phase 2 Burosumab
25 Effects of Growth Hormone Treatment on Body Proportions and Final Height Among Small Children With X-Linked Hypophosphatemic Rickets Unknown status NCT00473187 Phase 1 somatropin
26 Effect of Calcimimetic (Cinacalcet) on Phosphate-Induced Hyperparathyroidism in Children With Hypophosphatemic Rickets Completed NCT00195936 Phase 1 Cinacalcet
27 A Phase I, Double-blind, Randomized, Placebo-controlled, Single-dose, Dose-escalation Study of KRN23 in X-linked Hypophosphatemia Completed NCT00830674 Phase 1 Placebo;KRN23
28 A Phase 1, Multicenter, Open-label, Sequential Dose-escalation, Single-dose Study to Assess the Safety and Tolerability of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/Osteomalacia. Completed NCT02181764 Phase 1 KRN23
29 Retrospective and Prospective Disease Progression and Quality of Life in X-linked Hypophosphatemia (XLH) Unknown status NCT04049877
30 The Natural History of Generalized Arterial Calcification of Infancy (GACI) With or Without Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) or Pseudoxanthoma Elasticum (PXE) Unknown status NCT03758534
31 Hypophosphatemic Rickets in Norway Unknown status NCT01057186 Sevelamer
32 Calcitonin for Treating X-linked Hypophosphatemia Completed NCT01652573 nasal salmon calcitonin;Saline Nasal Spray Placebo
33 X-linked Hypophosphatemia and Carbohydrate and Lipid Metabolism: a Role for FGF21? Completed NCT03596554
34 Interplay of FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP) Completed NCT03489993
35 Understanding the Spectrum of ENPP1 Deficiency and Acute ABCC6 Deficiency Through the Eyes of Patients and Parents; Burden of Illness Perspectives From Patients and Parents Who Speak English, French or German Completed NCT04372446
36 Milk Products in the Treatment of Hypophosphatemic Rickets: A Randomised Crossover Trial Completed NCT03348644
37 Effect of Burosumab and 1-25 (OH) Vitamin D on Human Osteoclasts From Patients With Hypophosphatemic Rickets (HR) Completed NCT04184661
38 Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent Patients Completed NCT01578824
39 A Natural History Study of Patients With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Completed NCT03478839
40 Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Completed NCT02233322
41 Calcitriol Monotherapy for X-Linked Hypophosphatemia: Effects on Mineral Ions, Growth and Skeletal Parameters Recruiting NCT03748966 Early Phase 1 Calcitriol
42 Characterising Pain, Quality of Life, Body Composition, Arterial Stiffness, Muscle Function, Bone Density and Geometry in Adult Persons With Hereditary Hypophosphatemia and Healthy Controls Recruiting NCT04273490
43 An International, Multicenter, Prospective, Longitudinal Observational Study for Patient With X-linked Hypophosphatemic Rickets/Osteomalacia Recruiting NCT03745521
44 Dental Implants in Patients With X-linked Hypophosphatemia Recruiting NCT03879915
45 An Observational, Prospective, European, Multicentre, Mixed Methods Study to Describe the Lived Experience of X-Linked Hypophosphatemia (XLH) for Adolescents at End of Skeletal Growth Recruiting NCT05181839 Burosumab
46 An International, Multicentre, Prospective, Non-interventional Observational Registry for Patients With X-Linked Hypophosphatemia (XLH) Recruiting NCT03193476
47 Identification of Longitudinal Burden of Disease and Functional Impairment in X-Linked Hypophosphatemia Recruiting NCT04946409
48 A UK Multicentre, Non-interventional, Observational, Health-Related Quality of Life Study for Children and Adolescents With X-linked Hypophosphataemia Recruiting NCT04819490
49 X-linked Hypophosphatemia Disease Monitoring Program (XLH-DMP) Active, not recruiting NCT03651505
50 Expanded Access to Burosumab Available NCT03775187

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

Cochrane evidence based reviews: familial hypophosphatemic rickets

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Genetic Tests for Hypophosphatemic Rickets, X-Linked Dominant

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Anatomical Context for Hypophosphatemic Rickets, X-Linked Dominant

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

MalaCards : Bone, Kidney, Spinal Cord, Bone Marrow, Thyroid, Liver
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
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Publications for Hypophosphatemic Rickets, X-Linked Dominant

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Articles related to Hypophosphatemic Rickets, X-Linked Dominant:

(show top 50) (show all 1045)
# Title Authors PMID Year
1
PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets. 62 24 57 5
19219621 2009
2
Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. 62 24 57 5
9106524 1997
3
Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene. 62 57 5
18252791 2008
4
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. 62 57 5
9768646 1998
5
A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium. 62 57 5
7550339 1995
6
Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets. 62 24 5
19513579 2009
7
Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets. 62 24 5
18625346 2008
8
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. 62 24 5
16303832 2006
9
Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. 62 24 5
11502829 2001
10
Mutational analysis of PHEX gene in X-linked hypophosphatemia. 62 24 5
9768674 1998
11
X-linked hypophosphatemia in adults: prevalence of skeletal radiographic and scintigraphic features. 62 24 57
2539609 1989
12
Adult-onset vitamin D-resistant hypophosphatemic osteomalacia. A possible variant of vitamin D-resistant rickets. 57 5
188828 1977
13
Calcification of entheses associated with X-linked hypophosphatemic osteomalacia. 24 57
4000222 1985
14
Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program. 62 5
34633109 2022
15
X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3'-UTR Mutation c.*231A>G (A Retrospective Case-Control Study). 62 5
31910300 2020
16
Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations. 62 5
29460029 2018
17
Burosumab Therapy in Children with X-Linked Hypophosphatemia. 62 57
29791829 2018
18
X-linked hypophosphatemic rickets: case report. 62 5
24684036 2014
19
Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment. 62 5
22101457 2012
20
Calcitonin administration in X-linked hypophosphatemia. 62 57
21524226 2011
21
The journey from vitamin D-resistant rickets to the regulation of renal phosphate transport. 62 57
19808223 2009
22
A clinical and molecular genetic study of hypophosphatemic rickets in children. 62 57
16055933 2005
23
Hearing impairment in familial X-linked hypophosphatemic rickets. 62 57
15290264 2004
24
Parathyroidectomy for tertiary hyperparathyroidism associated with X-linked dominant hypophosphatemic rickets. 62 57
14769584 2004
25
Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets. 62 57
12915641 2003
26
Structure and function of disease-causing missense mutations in the PHEX gene. 62 5
12727977 2003
27
X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene. 62 5
11502821 2001
28
Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein. 62 5
11468271 2001
29
Pathophysiology of X-linked hypophosphatemia, tumor-induced osteomalacia, and autosomal dominant hypophosphatemia: a perPHEXing problem. 62 57
11157997 2001
30
Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. 62 5
10737991 2000
31
PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia. 62 57
10874297 2000
32
The effect of recombinant human growth hormone in children with X-linked hypophosphatemia. 62 57
9346990 1997
33
Cardiovascular abnormalities in patients with X-linked hypophosphatemia. 62 57
9253316 1997
34
Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets. 62 5
9199930 1997
35
24,25 Dihydroxyvitamin D supplementation corrects hyperparathyroidism and improves skeletal abnormalities in X-linked hypophosphatemic rickets--a clinical research center study. 62 57
8964881 1996
36
Nocturnal hyperparathyroidism: a frequent feature of X-linked hypophosphatemia. 62 57
8200940 1994
37
Normal calcitonin stimulation of serum calcitriol in patients with X-linked hypophosphatemic rickets. 62 57
1639943 1992
38
X-linked hypophosphatemic rickets: a study (with literature review) of linear growth response to calcitriol and phosphate therapy. 62 57
1414477 1992
39
Effects of therapy in X-linked hypophosphatemic rickets. 62 57
1660098 1991
40
X-linked hypophosphatemia: an appreciation of a classic paper and a survey of progress since 1958. 62 57
1851532 1991
41
Linkage analysis of two cloned DNA sequences, DXS197 and DXS207, in hypophosphatemic rickets families. 62 57
1979046 1990
42
The human glycine receptor: a new probe that is linked to the X-linked hypophosphatemic rickets gene. 62 57
2163973 1990
43
X-linked hypophosphatemia: the mutant gene is expressed in teeth as well as in kidney. 62 57
2155529 1990
44
Bridging markers defining the map position of X linked hypophosphataemic rickets. 62 57
2828625 1987
45
X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22. 62 57
3015771 1986
46
Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis. 62 57
3015770 1986
47
Healing of bone disease in X-linked hypophosphatemic rickets/osteomalacia. Induction and maintenance with phosphorus and calcitriol. 62 57
3839245 1985
48
The effects of Mendelian mutation on renal sulfate and phosphate transport in man and mouse. 62 57
6701031 1984
49
Long-term influence of calcitriol (1,25-dihydroxyvitamin D) and supplemental phosphate in X-linked hypophosphatemic rickets. 62 57
6300745 1983
50
Orthophosphate transport in the erythrocyte of normal subjects and of patients with X-linked hypophosphatemia. 62 57
1117070 1975
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Variations for Hypophosphatemic Rickets, X-Linked Dominant

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

5 (show top 50) (show all 306)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PHEX NC_000023.10:g.(22115157_22117149)_(22117270_22129584)del DEL Pathogenic
 438572 GRCh37: X:22115157-22129584
GRCh38: X:22097039-22111466
2 PTCHD1-AS, PHEX NM_000444.6(PHEX):c.1768+1G>A SNV Pathogenic
 438498 rs886041296 GRCh37: X:22237221-22237221
GRCh38: X:22219104-22219104
3 PTCHD1-AS, PHEX NC_000023.10:g.(22237221_22239729)_(22239861_22244559)del DEL Pathogenic
 438516 GRCh37: X:22237221-22244559
GRCh38: X:22219104-22226442
4 PTCHD1-AS, PHEX NC_000023.10:g.(22237221_22239729)_(22266070_?)del DEL Pathogenic
 438547 GRCh37: X:22237221-22266070
GRCh38: X:22219104-22247953
5 PHEX NM_000444.6(PHEX):c.732+5G>C SNV Pathogenic
 438569 rs1556023528 GRCh37: X:22108620-22108620
GRCh38: X:22090502-22090502
6 PHEX NM_000444.6(PHEX):c.424del (p.Cys142fs) DEL Pathogenic
 438533 rs1556020474 GRCh37: X:22094580-22094580
GRCh38: X:22076462-22076462
7 PTCHD1-AS, PHEX NM_000444.6(PHEX):c.1885_1888dup (p.Ala630fs) DUP Pathogenic
 438511 rs1556138742 GRCh37: X:22239842-22239843
GRCh38: X:22221725-22221726
8 PHEX NM_000444.6(PHEX):c.1590G>C (p.Trp530Cys) SNV Pathogenic
 438486 rs1556091855 GRCh37: X:22208564-22208564
GRCh38: X:22190447-22190447
9 PHEX and overlap with 2 gene(s) NC_000023.10:g.22148200_22250155dup DUP Pathogenic
 438553 GRCh37: X:22148200-22250155
GRCh38: X:22130083-22232038
10 PTCHD1-AS, PHEX NM_000444.6(PHEX):c.1754G>A (p.Gly585Glu) SNV Pathogenic
 438519 rs1556135477 GRCh37: X:22237206-22237206
GRCh38: X:22219089-22219089
11 PHEX NM_000444.6(PHEX):c.1483-2A>G SNV Pathogenic
 438540 rs1556070724 GRCh37: X:22196388-22196388
GRCh38: X:22178271-22178271
12 PHEX NM_000444.6(PHEX):c.187+1G>T SNV Pathogenic
 438537 rs1556012100 GRCh37: X:22056656-22056656
GRCh38: X:22038538-22038538
13 PHEX and overlap with 2 gene(s) NC_000023.10:g.(22186507_22196389)_(22231076_22237152)del DEL Pathogenic
 438503 GRCh37: X:22186507-22237152
GRCh38: X:22168390-22219035
14 PHEX NM_000444.6(PHEX):c.707T>C (p.Leu236Pro) SNV Pathogenic
 438555 rs1556023505 GRCh37: X:22108590-22108590
GRCh38: X:22090472-22090472
15 PHEX NM_000444.6(PHEX):c.118+1G>T SNV Pathogenic
 430012 rs1131691731 GRCh37: X:22051242-22051242
GRCh38: X:22033124-22033124
16 PHEX NM_000444.6(PHEX):c.142C>T (p.Gln48Ter) SNV Pathogenic
 438523 rs202074612 GRCh37: X:22056610-22056610
GRCh38: X:22038492-22038492
17 PTCHD1-AS, PHEX NM_000444.6(PHEX):c.1718C>A (p.Ala573Asp) SNV Pathogenic
 438578 rs1556135308 GRCh37: X:22237170-22237170
GRCh38: X:22219053-22219053
18 PTCHD1-AS, PHEX NC_000023.10:g.(22245729_22263449)_(22266070_?)del DEL Pathogenic
 438561 GRCh37: X:22245729-22266070
GRCh38: X:22227612-22247953
19 PTCHD1-AS, PHEX NM_000444.6(PHEX):c.2193del (p.Phe731fs) DEL Pathogenic
 280420 rs886041631 GRCh37: X:22266010-22266010
GRCh38: X:22247893-22247893
20 PHEX NM_000444.6(PHEX):c.1572dup (p.Val525fs) DUP Pathogenic
 438564 rs1556071138 GRCh37: X:22196477-22196478
GRCh38: X:22178360-22178361
21 PHEX NC_000023.10:g.(?_22051124)_(22051242_22056586)del DEL Pathogenic
 438512 GRCh37: X:22051124-22056586
GRCh38: X:22033006-22038468
22 PHEX and overlap with 1 gene(s) NC_000023.10:g.(22208620_22231047)_(22266070_?)del DEL Pathogenic
 438529 GRCh37: X:22208620-22266070
GRCh38: X:22190503-22247953
23 PTCHD1-AS, PHEX NM_000444.6(PHEX):c.1649_1650del (p.Phe550fs) DEL Pathogenic
 438506 rs1556128043 GRCh37: X:22231023-22231024
GRCh38: X:22212906-22212907
24 PTCHD1-AS, PHEX NM_000444.6(PHEX):c.1910dup (p.Arg638fs) DUP Pathogenic
 438509 rs1556148392 GRCh37: X:22244568-22244569
GRCh38: X:22226451-22226452
25 PHEX NC_000023.10:g.(22065330_22094505)_(22095821_22108546)del DEL Pathogenic
 438546 GRCh37: X:22065330-22108546
GRCh38: X:22047212-22090428
26 PHEX NM_000444.6(PHEX):c.78dup (p.Val27fs) DUP Pathogenic
 438526 rs1556010757 GRCh37: X:22051198-22051199
GRCh38: X:22033080-22033081
27 PHEX NM_000444.6(PHEX):c.546_549del (p.Arg183fs) MICROSAT Pathogenic
 438494 rs1556020798 GRCh37: X:22095700-22095703
GRCh38: X:22077582-22077585
28 PHEX NM_000444.6(PHEX):c.1568_1569insT (p.Lys523fs) INSERT Pathogenic
 438543 rs1556071123 GRCh37: X:22196475-22196476
GRCh38: X:22178358-22178359
29 PHEX NC_000023.10:g.(22094593_22095593)_(22095821_22108546)del DEL Pathogenic
 438496 GRCh37: X:22094593-22108546
GRCh38: X:22076475-22090428
30 PHEX NM_000444.6(PHEX):c.1297G>T (p.Glu433Ter) SNV Pathogenic
 438554 rs1556030502 GRCh37: X:22132699-22132699
GRCh38: X:22114581-22114581
31 PTCHD1-AS, PHEX NC_000023.10:g.(22239861_22244559)_(22266070_?)del DEL Pathogenic
 438573 GRCh37: X:22239861-22266070
GRCh38: X:22221744-22247953
32 PTCHD1-AS, PHEX NM_000444.6(PHEX):c.1763A>G (p.Asn588Ser) SNV Pathogenic
 438520 rs772130004 GRCh37: X:22237215-22237215
GRCh38: X:22219098-22219098
33 PTCHD1-AS, PHEX NM_000444.6(PHEX):c.2199_2217dup (p.Asn740fs) DUP Pathogenic
 438499 rs1556206093 GRCh37: X:22266016-22266017
GRCh38: X:22247899-22247900
34 PHEX and overlap with 1 gene(s) NM_000444.6(PHEX):c.1587-2145_1645+3342del DEL Pathogenic
 438551 GRCh37: X:22206416-22211961
GRCh38: X:22188299-22193844
35 PHEX NM_000444.6(PHEX):c.1134del (p.Ser379fs) DEL Pathogenic
 438517 rs1556029516 GRCh37: X:22129638-22129638
GRCh38: X:22111520-22111520
36 PHEX NM_000444.6(PHEX):c.467T>C (p.Leu156Pro) SNV Pathogenic
 438570 rs1556020752 GRCh37: X:22095624-22095624
GRCh38: X:22077506-22077506
37 PHEX NC_000023.10:g.(22095821_22108546)_(22108616_22112100)del DEL Pathogenic
 438514 GRCh37: X:22095821-22112100
GRCh38: X:22077703-22093982
38 PHEX NM_000444.6(PHEX):c.1269del (p.Asp424fs) DEL Pathogenic
 438576 rs1556030487 GRCh37: X:22132671-22132671
GRCh38: X:22114553-22114553
39 PHEX NC_000023.10:g.(22132705_22151639)_(22151742_22186428)del DEL Pathogenic
 438541 GRCh37: X:22132705-22186428
GRCh38:
40 PHEX NM_000444.6(PHEX):c.436+6T>C SNV Pathogenic
 438507 rs1556020485 GRCh37: X:22094598-22094598
GRCh38: X:22076480-22076480
41 PTCHD1-AS and overlap with 2 gene(s) NC_000023.10:g.22256748_22370988del114241 DEL Pathogenic
 438562 GRCh37: X:22256748-22370988
GRCh38: X:22238631-22352871
42 PHEX NM_000444.6(PHEX):c.119-1G>A SNV Pathogenic
 10814 GRCh37: X:22056586-22056586
GRCh38: X:22038468-22038468
43 PHEX NM_000444.6(PHEX):c.119-1G>C SNV Pathogenic
 10815 GRCh37: X:22056586-22056586
GRCh38: X:22038468-22038468
44 PHEX NM_000444.6(PHEX):c.830T>A (p.Leu277Ter) SNV Pathogenic
 10816 rs137853268 GRCh37: X:22112198-22112198
GRCh38: X:22094080-22094080
45 PHEX NM_000444.6(PHEX):c.254G>A (p.Cys85Tyr) SNV Pathogenic
 10817 rs137853269 GRCh37: X:22065234-22065234
GRCh38: X:22047116-22047116
46 PHEX PHEX, A-G, NT-429 SNV Pathogenic
 10820 GRCh37:
GRCh38:
47 PHEX NM_000444.6(PHEX):c.1523A>C (p.Gln508Pro) SNV Pathogenic
 438538 rs1556070890 GRCh37: X:22196430-22196430
GRCh38: X:22178313-22178313
48 PHEX NM_000444.6(PHEX):c.679C>A (p.Leu227Ile) SNV Pathogenic
 438556 rs1556023495 GRCh37: X:22108562-22108562
GRCh38: X:22090444-22090444
49 PHEX NM_000444.6(PHEX):c.732+5G>A SNV Pathogenic
 438504 rs1556023528 GRCh37: X:22108620-22108620
GRCh38: X:22090502-22090502
50 PHEX NM_000444.6(PHEX):c.181G>T (p.Glu61Ter) SNV Pathogenic
 438495 rs770630990 GRCh37: X:22056649-22056649
GRCh38: X:22038531-22038531

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

73 (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 rs1057517980
10 PHEX p.Phe80Ser VAR_010616
11 PHEX p.Cys85Phe VAR_010617
12 PHEX p.Cys85Arg VAR_010618 rs1556014287
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 rs1556091855
19 PHEX p.Leu555Pro VAR_010627 rs137853270
20 PHEX p.Arg567Pro VAR_010628 rs760870713
21 PHEX p.Ala573Asp VAR_010629 rs1556135308
22 PHEX p.Gln621Arg VAR_010630
23 PHEX p.Arg651Pro VAR_010631 rs748792378
24 PHEX p.Asn680Lys VAR_010633 rs1556151526
25 PHEX p.Cys693Tyr VAR_010634 rs1556200989
26 PHEX p.Ala720Thr VAR_010635
27 PHEX p.Phe731Tyr VAR_010636
28 PHEX p.Cys733Ser VAR_010637 rs1057517981
29 PHEX p.Cys746Trp VAR_010638
30 PHEX p.Trp749Arg VAR_010639 rs1556206403

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Expression for Hypophosphatemic Rickets, X-Linked Dominant

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

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Pathways directly related to Hypophosphatemic Rickets, X-Linked Dominant:

# Pathway Source
1 Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) Reactome 66

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Signaling by Receptor Tyrosine Kinases 66
12.6 SPP1 KL GALNT3 FGFR4 FGFR1 FGF23
2
Negative regulation of FGFR1 signaling 66
Show member pathways
 12.38 KL GALNT3 FGFR4 FGFR1 FGF23
3
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) 66
Show member pathways
 12.13 SPP1 MEPE FGF23 FAM20C DMP1
4
Signaling by FGFR2 66
Show member pathways
 12 FGF23 FGFR1 FGFR4 GALNT3 KL
5
Vitamin D receptor pathway 74
11.92 SPP1 PTH KL FGF23 CYP27B1
6
Endochondral ossification 74
Show member pathways
 11.65 SPP1 PTH FGFR1 ENPP1 ALPL
7
Clock-controlled autophagy in bone metabolism 74
11.59 SOST PTH MEPE
8
Transcription_Role of VDR in regulation of genes involved in osteoporosis 22
11.31 SPP1 PTH CYP27B1
9
OSX and miRNAs in tooth development 74
11.13 SOST DMP1 ALPL
10
FGF signaling pathway 61
11.09 SPP1 KL FGFR4 FGFR1 FGF23
11
G-protein signaling_Rap2B regulation pathway 22
10.83 SPP1 MEPE FGFR4 FGFR1 FGF23
13
Vitamin D metabolism 74
10.49 PTH CYP27B1
Sources

GO Terms for Hypophosphatemic Rickets, X-Linked Dominant

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.66 SPP1 SOST PTH MEPE KL FGFR4
2 endoplasmic reticulum lumen GO:0005788 9.65 SPP1 MEPE FGF23 FAM20C DMP1

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 10.2 ALPL FAM20C FGFR1 MEPE PHEX PTH
2 fibroblast growth factor receptor signaling pathway GO:0008543 10.13 KL GALNT3 FGFR4 FGFR1 FGF23
3 bone mineralization GO:0030282 10.1 PTH PHEX ENPP1 CYP27B1 ALPL
4 positive regulation of bone mineralization GO:0030501 10.07 PTH KL FAM20C
5 ossification GO:0001503 10.07 SPP1 SOST SLC34A1 DMP1
6 cellular response to parathyroid hormone stimulus GO:0071374 9.97 SOST SLC34A1 PHEX FGF23
7 calcium ion homeostasis GO:0055074 9.97 ALPL CYP27B1 FGF23 KL PTH
8 response to sodium phosphate GO:1904383 9.95 PHEX FGF23 ALPL
9 phosphate ion transport GO:0006817 9.93 SLC34A3 SLC34A1
10 cellular response to vitamin D GO:0071305 9.92 PHEX FGF23
11 dentinogenesis GO:0097187 9.91 SLC34A1 FAM20C
12 regulation of bone mineralization GO:0030500 9.91 FGF23 ENPP1 CYP27B1
13 sodium-dependent phosphate transport GO:0044341 9.9 SLC34A3 SLC34A1
14 response to vitamin D GO:0033280 9.9 ALPL CYP27B1 KL PHEX PTH SPP1
15 response to macrophage colony-stimulating factor GO:0036005 9.88 ALPL SPP1
16 vitamin D catabolic process GO:0042369 9.88 CYP27B1 FGF23
17 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.86 FGF23 KL
18 cellular phosphate ion homeostasis GO:0030643 9.86 SLC34A3 SLC34A1 FGF23 ENPP1
19 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.84 FGF23 CYP27B1
20 vitamin D metabolic process GO:0042359 9.79 FGF23 CYP27B1
21 response to fibroblast growth factor GO:0071774 9.79 PTH KL
22 response to parathyroid hormone GO:0071107 9.74 PTH SLC34A1
23 phosphate ion homeostasis GO:0055062 9.73 SLC34A1 PTH FGFR4 FGF23 ENPP1 ALPL
24 obsolete biomineralization GO:0110148 9.55 ALPL ENPP1
25 cellular response to endogenous stimulus GO:0071495 9.49 FGFR4 FGFR1
26 biomineral tissue development GO:0031214 9.36 SPP1 PHEX MEPE FAM20C ENPP1 DMP1

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

# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor activity GO:0005007 9.26 FGFR4 FGFR1
2 fibroblast growth factor binding GO:0017134 9.1 KL FGFR4 FGFR1
Sources

Sources for Hypophosphatemic Rickets, X-Linked Dominant

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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