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XLRHR
MCID: HYP798
MIFTS: 63

Hypophosphatemic Rickets, X-Linked Recessive (XLRHR)

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

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

Name: Hypophosphatemic Rickets, X-Linked Recessive 57 73 28 5
Hypophosphatemic Rickets 57 19 58 75 28 12 5 71
X-Linked Recessive Hypophosphatemic Rickets 11 14
Rickets, Hypophosphatemic, X-Linked Recessive 38
Hypophosphatemic Rickets Disorders 28
Familial Hypophosphatemic Rickets 71
Rickets Hypophosphatemic 53
Xlrhr 73

Characteristics:


Inheritance:

Hypophosphatemic Rickets, X-Linked Recessive: X-linked recessive 57
Hypophosphatemic Rickets: Autosomal dominant,Autosomal recessive,X-linked dominant 58

Age Of Onset:

Hypophosphatemic Rickets: All ages 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable phenotypic severity
female carriers may have asymptomatic hypercalciuria or hypophosphatemia only
part of 'dent disease complex' (see )


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:0080353
OMIM® 57 300554
OMIM Phenotypic Series 57 PS193100
MeSH 43 D053098
ICD10 via Orphanet 32 E83.3
UMLS via Orphanet 72 C1704375 C2363065 C3536983
Orphanet 58 ORPHA437
MedGen 40 C1845168
UMLS 71 C1704375 C3536983
Sources

Summaries for Hypophosphatemic Rickets, X-Linked Recessive

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GARD: 19 Hypophosphatemic rickets (previously called vitamin D-resistant rickets) is a disorder in which the bones become painfully soft and bend easily, due to low levels of phosphate in the blood. Symptoms usually begin in early childhood and can range in severity. Severe forms may cause bowing of the legs and other bone deformities; bone pain; joint pain; poor bone growth; and short stature. In some affected babies, the space between the skull bones closes too soon (craniosynostosis). This sometimes results in developmental abnormalities. Hypophosphatemic rickets is almost always inherited and may be caused by changes in any of several genes. There are several forms which are distinguished by their genetic cause and pattern of inheritance. Most commonly Hypophosphatemic rickets is due to changes in the PHEX gene and inherited in an X-linked dominant manner (X-linked hypophosphatemia). Less commonly it is inherited in an X-linked recessive manner (often called Dent disease); autosomal dominant manner; or autosomal recessive manner.

MalaCards based summary: Hypophosphatemic Rickets, X-Linked Recessive, also known as hypophosphatemic rickets, is related to dent disease 1 and hypophosphatemic rickets with hypercalciuria, hereditary. An important gene associated with Hypophosphatemic Rickets, X-Linked Recessive is CLCN5 (Chloride Voltage-Gated Channel 5), and among its related pathways/superpathways are Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) and Vitamin D receptor pathway. The drugs Cholecalciferol and Calcitriol have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and cortex, and related phenotypes are hypophosphatemia and rickets

UniProtKB/Swiss-Prot: 73 A renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. XLRH patients present with rickets or osteomalacia, hypophosphatemia due to decreased renal tubular phosphate reabsorption, hypercalciuria, and low molecular weight proteinuria. Patients develop nephrocalcinosis with progressive renal failure in adulthood. Female carriers may have asymptomatic hypercalciuria or hypophosphatemia only.

OMIM®: 57 X-linked recessive hypophosphatemic rickets is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see 300009. (300554) (Updated 08-Dec-2022)

Orphanet: 58 A group of genetic, renal phosphate wasting disorders characterized by hypophosphatemia, rickets, and normal serum levels of calcium. Characteristic clinical features include slow growth/short stature, bone pain and bone deformities.

Disease Ontology: 11 A rickets that has material basis in mutation in the CLCN5 gene on chromosome Xp11.22.

Wikipedia: 75 X-linked hypophosphatemia (XLH) is an X-linked dominant form of rickets (or osteomalacia) that differs... more...
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Related Diseases for Hypophosphatemic Rickets, X-Linked Recessive

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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 Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 222)
# Related Disease Score Top Affiliating Genes
1 dent disease 1 32.3 SLC34A3 SLC34A1 OCRL CLCN7 CLCN5
2 hypophosphatemic rickets with hypercalciuria, hereditary 32.1 SLC34A3 SLC34A1 PHEX OCRL MEPE FGF23
3 fanconi renotubular syndrome 2 32.0 SLC34A3 SLC34A1 PHEX DMP1
4 cystinosis 32.0 OCRL FGF23 CLCN5
5 hypophosphatemic rickets, autosomal dominant 32.0 SLC34A3 SFRP4 PTCHD1-AS PHEX MEPE FGF23
6 hypophosphatemic rickets, x-linked dominant 31.6 SLC34A3 SLC34A1 SFRP4 PTCHD1-AS PHEX-AS1 PHEX
7 hyperparathyroidism 31.5 VDR PHEX FGF23 CYP27B1
8 hypophosphatemia 31.4 VDR SLC34A3 SLC34A1 SFRP4 PHEX OCRL
9 vitamin d-dependent rickets, type 2a 31.4 VDR SLC34A3 PTCHD1-AS PHEX FGF23 FAM20C
10 nephrolithiasis, calcium oxalate 31.3 VDR SLC34A1 CLCN5
11 tumoral calcinosis, hyperphosphatemic, familial, 1 31.3 SLC34A3 PHEX MEPE FGF23 FAM20C ENPP1
12 autosomal recessive hypophosphatemic rickets 31.2 SLC34A3 SLC34A1 SFRP4 PHEX MEPE FGF23
13 secondary hyperparathyroidism 31.1 VDR FGF23 CYP27B1 CYP24A1
14 nevus, epidermal 31.0 PHEX MEPE FGF23 ENPP1
15 nephrolithiasis 30.9 VDR SLC34A3 SLC34A1 FGF23 CYP24A1 CLCN5
16 bone disease 30.9 VDR PHEX FGF23 CYP27B1 CLCN7
17 hypercalciuria, absorptive, 2 30.9 VDR SLC34A3 CLCN5
18 nephrocalcinosis 30.8 SLC34A3 SLC34A1 PHEX OCRL CYP24A1 CLCN7
19 renal tubular acidosis 30.8 WDR72 OCRL CLCN5
20 mccune-albright syndrome 30.8 PHEX MEPE FGF23
21 aminoaciduria 30.7 SLC34A1 OCRL CLCN5
22 dental caries 30.7 VDR DSPP DMP1
23 arterial calcification of infancy 30.7 SLC34A3 PHEX FGF23 FAM20C ENPP1 DMP1
24 rickets 30.6 VDR SLC34A3 SLC34A1 PHEX OCRL MEPE
25 dentin dysplasia 30.6 MEPE DSPP DMP1
26 schimmelpenning-feuerstein-mims syndrome 30.6 SLC34A3 PHEX MEPE FGF23 FAM20C ENPP1
27 enthesopathy 30.5 SLC34A3 PHEX MEPE FGF23 ENPP1
28 hyperphosphatemia 30.5 VDR SLC34A1 SFRP4 PHEX FGF23
29 fanconi syndrome 30.5 SLC34A3 SLC34A1 PHEX OCRL FGF23 ENPP1
30 endosteal hyperostosis, autosomal dominant 30.4 SFRP4 PHEX CLCN7
31 primary hyperparathyroidism 30.4 VDR FGF23 CYP27B1
32 osteomalacia 30.4 VDR SLC34A3 SLC34A1 SFRP4 PHEX MEPE
33 raine syndrome 30.3 FAM20C DMP1
34 calcinosis 30.3 PHEX MEPE FGF23 ENPP1
35 root resorption 30.2 VDR DSPP DMP1
36 suppurative periapical periodontitis 30.2 PHEX DSPP
37 osteogenesis imperfecta, type vi 30.2 PHEX MEPE
38 metaphyseal dysplasia 30.2 SLC34A3 SFRP4 PHEX FGF23
39 chronic kidney disease 30.2 VDR SFRP4 FGF23 ENPP1 CYP27B1
40 hypervitaminosis d 30.1 VDR FGF23 CYP27B1 CYP24A1
41 vitamin d hydroxylation-deficient rickets, type 1a 30.1 VDR PHEX FGF23 DMP1 CYP27B1
42 dentinogenesis imperfecta 30.1 VDR MEPE DSPP DMP1
43 vitamin d-dependent rickets 30.1 VDR SLC34A3 SLC34A1 PHEX FGF23 ENPP1
44 kidney disease 30.1 VDR SFRP4 FGF23 ENPP1 CYP27B1 CLCN5
45 hypophosphatemic nephrolithiasis/osteoporosis 30.0 SLC34A3 SLC34A1 PHEX ENPP1 DMP1 CLCN5
46 hypophosphatasia 30.0 SFRP4 PHEX FGF23 ENPP1 DSPP
47 osteoglophonic dysplasia 29.8 SLC34A3 PHEX MEPE FGF23 FAM20C ENPP1
48 nephrolithiasis/osteoporosis, hypophosphatemic, 1 29.7 SLC34A3 SLC34A1 PHEX FGF23 ENPP1 DMP1
49 dental abscess 29.7 SLC34A3 SLC34A1 PHEX MEPE FGF23 FAM20C
50 brittle bone disorder 29.7 SFRP4 PHEX MEPE FGF23 ENPP1 DSPP

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



Diseases related to Hypophosphatemic Rickets, X-Linked Recessive
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Symptoms & Phenotypes for Hypophosphatemic Rickets, X-Linked Recessive

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

58 30 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypophosphatemia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002148
2 rickets 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002748
3 bone pain 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002653
4 failure to thrive 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001508
5 muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001324
6 bowing of the long bones 58 30 Frequent (33%) Frequent (79-30%)
 HP:0006487
7 osteomalacia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002749
8 disproportionate short stature 58 30 Frequent (33%) Frequent (79-30%)
 HP:0003498
9 hyperphosphaturia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0003109
10 abnormal lower limb bone morphology 58 30 Frequent (33%) Frequent (79-30%)
 HP:0040069
11 elevated circulating alkaline phosphatase concentration 30 Frequent (33%) HP:0003155
12 joint stiffness 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001387
13 renal insufficiency 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000083
14 hypercalciuria 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002150
15 low levels of vitamin d 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0100512
16 calcification of the aorta 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0004963
17 hypocalciuria 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0003127
18 enthesitis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0100686
19 bone fracture 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0020110
20 renal phosphate wasting 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000117
21 periapical tooth abscess 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0030758
22 odontodysplasia 30 Occasional (7.5%) HP:0000694
23 low serum calcitriol 30 Occasional (7.5%) HP:0012052
24 precocious puberty 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0000826
25 multiple cafe-au-lait spots 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0007565
26 nephrocalcinosis 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0000121
27 hyperparathyroidism 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0000843
28 hyperthyroidism 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0000836
29 hypercalcemia 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0003072
30 hyperostosis 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0100774
31 craniofacial osteosclerosis 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0005464
32 fibrous dysplasia of the bones 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0010734
33 elevated circulating parathyroid hormone level 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0003165
34 parathyroid hyperplasia 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0008208
35 craniofacial asymmetry 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0004484
36 patchy variation in bone mineral density 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0010659
37 abnormality of the dentition 58 Occasional (29-5%)
38 short stature 30 HP:0004322
39 nephrolithiasis 30 HP:0000787
40 recurrent fractures 30 HP:0002757
41 proximal tubulopathy 30 HP:0000114
42 femoral bowing 30 HP:0002980
43 tibial bowing 30 HP:0002982
44 tooth abscess 58 Occasional (29-5%)
45 chronic kidney disease 30 HP:0012622
46 ectopic calcification 58 Occasional (29-5%)
47 fibular bowing 30 HP:0010502
48 metaphyseal irregularity 30 HP:0003025
49 bowing of the legs 30 HP:0002979
50 elevated alkaline phosphatase 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Height:
short stature

Skeletal:
rickets
osteomalacia
bone pain
thin bony cortex
sparse bone trabeculae
more
Skeletal Limbs:
bowing of the legs
enlargement of the wrists
enlargement of the ankles
delayed opacification of the epiphyses
widened, distorted epiphyses
more
Laboratory Abnormalities:
hypophosphatemia
hypercalciuria
low-molecular-weight proteinuria
appropriately increased serum 1,25-dihydroxyvitamin d3

Genitourinary Kidneys:
nephrolithiasis
nephrocalcinosis
proximal renal tubule defect
decreased renal tubular phosphate reabsorption
renal insufficiency, progressive
more
Growth Other:
poor growth

Clinical features from OMIM®:

300554 (Updated 08-Dec-2022)

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 10.31 CLCN5 CLCN7 CYP24A1 CYP27B1 DMP1 DSPP
2 homeostasis/metabolism MP:0005376 10.22 CLCN5 CLCN7 CYP24A1 CYP27B1 DMP1 DSPP
3 growth/size/body region MP:0005378 10.16 CLCN5 CLCN7 CYP24A1 CYP27B1 DMP1 DSPP
4 limbs/digits/tail MP:0005371 10.02 CLCN7 CYP27B1 DMP1 ENPP1 FAM20C FGF23
5 digestive/alimentary MP:0005381 9.7 DSPP FAM20C FGF23 PHEX SFRP4 SLC34A3
6 craniofacial MP:0005382 9.65 CLCN5 CLCN7 CYP27B1 DMP1 DSPP ENPP1
7 skeleton MP:0005390 9.53 CLCN5 CLCN7 CYP24A1 CYP27B1 DMP1 DSPP
Sources

Drugs & Therapeutics for Hypophosphatemic Rickets, X-Linked Recessive

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

(show all 48)
# 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
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 5280453
3 Antibodies, Monoclonal Phase 4
4 Immunologic Factors Phase 4
5 Vitamins Phase 4
6 Hormones Phase 4
7 Trace Elements Phase 4
8 Calciferol Phase 4
9 Vasoconstrictor Agents Phase 4
10 Calcium, Dietary Phase 4
11 Micronutrients Phase 4
12
Calcium Nutraceutical Phase 4 7440-70-2 271
13
Parathyroid hormone Approved, Investigational Phase 3 9002-64-6
14
Sodium fluoride Approved Phase 3 7681-49-4
15 Pharmaceutical Solutions Phase 3
16 Mitogens Phase 3
17 Immunoglobulins Phase 3
18 Antibodies Phase 3
19 Listerine Phase 3
20 Fluorides, Topical Phase 3
21 Fluorides Phase 3
22 Protective Agents Phase 3
23 Hormone Antagonists Phase 1, Phase 2
24 Immunoglobulins, Intravenous Phase 1, Phase 2
25 Immunoglobulin Fc Fragments Phase 1, Phase 2
26
Cinacalcet Approved Phase 1 226256-56-0 156419
27
Sevelamer Approved 52757-95-6 3085017
28
Sodium citrate Approved, Investigational 68-04-2 23431961
29
Ferrous gluconate Approved 299-29-6
30
Iron Approved 7439-89-6 29936
31
Salmon calcitonin Approved, Investigational 47931-85-1 155817456
32
Alfacalcidol Approved, Nutraceutical 41294-56-8 5282181
33
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
34
Calcitonin gene-related peptide Investigational 83652-28-2 91976570
35 Hydroxycholecalciferols
36 Chelating Agents
37 Citrate
38 Iron Supplement
39 Hematinics
40
Calcitonin
41 Vasodilator Agents
42 Katacalcin 16172926
43 Neurotransmitter Agents
44
Methacholine Chloride
45 Respiratory System Agents
46 Muscarinic Agonists
47 Cholinergic Agents
48 Dihydroxycholecalciferols Early Phase 1

Interventional clinical trials:

(show top 50) (show all 54)
# 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 An Open Label Trial to Assess the Safety and Efficacy of KRN23, an Investigational Antibody to FGF23, in a Single Pediatric Patient With Epidermal Nevus Syndrome (ENS) and Associated Hypophosphatemic Rickets Completed NCT04320316 Phase 4 Crysvita (burosumab-twza) Treatment
3 Examining the Effect of Burosumab on Muscle Function Using MR Spectroscopy Completed NCT04146935 Phase 4 Burosumab Injection [Crysvita]
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 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
7 The Role of Parathyroid Hormone in the Pathogenesis of Skeletal Disease in X-linked Hypophosphatemic Rickets (XLH) Completed NCT00417612 Phase 3 Paricalcitol
8 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
9 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
10 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
11 Therapeutic Use of Oral Sodium Phosphate (Z-521) in Primary Hypophosphatemic Rickets Completed NCT01237288 Phase 3 Z-521
12 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
13 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
14 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
15 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
16 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
17 Prevention of Spontaneous Dental Abscesses in Children With X-linked Hypophosphatemia: a Multicentre Randomized Controlled Trial Not yet recruiting NCT04872907 Phase 3 flowable composite
18 Proposition Pour un Traitement Par Hormone de Croissance Des Enfants Atteints de Rachitisme Hypophosphatemique Familial Completed NCT02720770 Phase 1, Phase 2 norditropine simplex
19 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
20 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
21 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
22 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
23 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
24 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
25 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
26 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
27 Effect of Calcimimetic (Cinacalcet) on Phosphate-Induced Hyperparathyroidism in Children With Hypophosphatemic Rickets Completed NCT00195936 Phase 1 Cinacalcet
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 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
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 Retrospective and Prospective Disease Progression and Quality of Life in X-linked Hypophosphatemia (XLH) Unknown status NCT04049877
33 Milk Products in the Treatment of Hypophosphatemic Rickets: A Randomised Crossover Trial Completed NCT03348644
34 Effect of Burosumab and 1-25 (OH) Vitamin D on Human Osteoclasts From Patients With Hypophosphatemic Rickets (HR) Completed NCT04184661
35 A Natural History Study of Patients With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Completed NCT03478839
36 Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Completed NCT02233322
37 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
38 Calcitonin for Treating X-linked Hypophosphatemia Completed NCT01652573 nasal salmon calcitonin;Saline Nasal Spray Placebo
39 X-linked Hypophosphatemia and Carbohydrate and Lipid Metabolism: a Role for FGF21? Completed NCT03596554
40 Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent Patients Completed NCT01578824
41 Interplay of FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP) Completed NCT03489993
42 Calcitriol Monotherapy for X-Linked Hypophosphatemia: Effects on Mineral Ions, Growth and Skeletal Parameters Recruiting NCT03748966 Early Phase 1 Calcitriol
43 Effect of Burosumab and 1-25 (OH) Vitamin D on Human Osteoblasts From Patients Requiring Craniosynostosis Surgery for Idiopathic Reason or Due to Hypophosphatemic Rickets (HR) Recruiting NCT04159675
44 An International, Multicenter, Prospective, Longitudinal Observational Study for Patient With X-linked Hypophosphatemic Rickets/Osteomalacia Recruiting NCT03745521
45 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
46 Dental Implants in Patients With X-linked Hypophosphatemia Recruiting NCT03879915
47 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
48 An International, Multicentre, Prospective, Non-interventional Observational Registry for Patients With X-Linked Hypophosphatemia (XLH) Recruiting NCT03193476
49 Identification of Longitudinal Burden of Disease and Functional Impairment in X-Linked Hypophosphatemia Recruiting NCT04946409
50 A UK Multicentre, Non-interventional, Observational, Health-Related Quality of Life Study for Children and Adolescents With X-linked Hypophosphataemia Recruiting NCT04819490

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

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Genetic Tests for Hypophosphatemic Rickets, X-Linked Recessive

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Genetic tests related to Hypophosphatemic Rickets, X-Linked Recessive:

# Genetic test Affiliating Genes
1 Hypophosphatemic Rickets, X-Linked Recessive 28 CLCN5
2 Hypophosphatemic Rickets 28
3 Hypophosphatemic Rickets Disorders 28
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Anatomical Context for Hypophosphatemic Rickets, X-Linked Recessive

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

MalaCards : Bone, Kidney, Cortex, Spinal Cord, Skeletal Muscle, Breast, Heart
ODiseA: Kidney
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Publications for Hypophosphatemic Rickets, X-Linked Recessive

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Articles related to Hypophosphatemic Rickets, X-Linked Recessive:

(show top 50) (show all 1187)
# Title Authors PMID Year
1
Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets. 62 57 5
7915957 1993
2
A second family with XLRH displays the mutation S244L in the CLCN5 gene. 57 5
9187673 1997
3
A common molecular basis for three inherited kidney stone diseases. 57 5
8559248 1996
4
Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria. 53 62 5
9596078 1998
5
Genetic and clinical profile of patients with hypophosphatemic rickets. 62 5
35738466 2022
6
Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms. 57
15558518 2004
7
X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. 57
9452994 1998
8
[Bone and joint diseases in children. Rickets]. 53 62
20513940 2010
9
Preproenkephalin (Penk) is expressed in differentiated osteoblasts, and its deletion in Hyp mice partially rescues their bone mineralization defect. 53 62
20204609 2010
10
Regulation of phosphate transport by fibroblast growth factor 23 (FGF23): implications for disorders of phosphate metabolism. 53 62
19669798 2010
11
[Disorders of phosphate metabolism]. 53 62
20408440 2010
12
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. 53 62
20137773 2010
13
Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. 53 62
20137772 2010
14
Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report. 53 62
20074341 2010
15
MEPE's diverse effects on mineralization. 53 62
19998030 2010
16
Therapeutic effects of anti-FGF23 antibodies in hypophosphatemic rickets/osteomalacia. 53 62
19419316 2009
17
The journey from vitamin D-resistant rickets to the regulation of renal phosphate transport. 53 62
19808223 2009
18
Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/type IIc sodium-phosphate cotransporter: presentation as hypercalciuria and nephrolithiasis. 53 62
19820004 2009
19
Familial hypophosphatemic rickets caused by a large deletion in PHEX gene. 53 62
19581284 2009
20
Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets. 53 62
19513579 2009
21
[Clinical aspect of recent progress in phosphate metabolism. Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23)]. 53 62
19483276 2009
22
PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets. 53 62
19219621 2009
23
Fibroblast growth factor 23 (FGF23) and the kidney. 53 62
19569031 2009
24
X-linked hypophosphatemic rickets and craniosynostosis. 53 62
19242361 2009
25
[Rickets]. 53 62
19122271 2009
26
Fibroblast Growth Factor 23 (FGF23) and Disorders of Phosphate Metabolism. 53 62
19956747 2009
27
A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets. 53 62
19429806 2009
28
Dentin noncollagenous matrix proteins in familial hypophosphatemic rickets. 53 62
18701809 2009
29
A case of X-linked hypophosphatemic rickets: complications and the therapeutic use of cinacalcet. 53 62
18775977 2008
30
Vitamin D receptor genotype in hypophosphatemic rickets as a predictor of growth and response to treatment. 53 62
18827005 2008
31
Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets. 53 62
18625346 2008
32
A patient with hypophosphatemia, a femoral fracture, and recurrent kidney stones: report of a novel mutation in SLC34A3. 53 62
18996815 2008
33
Regulation of phosphate homeostasis by the phosphatonins and other novel mediators. 53 62
18288501 2008
34
Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23) in hypophosphatemic patients: proposal of diagnostic criteria using FGF23 measurement. 53 62
18396126 2008
35
Degradation of MEPE, DMP1, and release of SIBLING ASARM-peptides (minhibins): ASARM-peptide(s) are directly responsible for defective mineralization in HYP. 53 62
18162525 2008
36
Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene. 53 62
18252791 2008
37
A mouse model with postnatal endolymphatic hydrops and hearing loss. 53 62
18289812 2008
38
Generation of a conditional null allele for Dmp1 in mouse. 53 62
18257058 2008
39
A novel Phex mutation with defective glycosylation causes hypophosphatemia and rickets in mice. 53 62
17710565 2008
40
Dentin matrix protein 1 (DMP1): new and important roles for biomineralization and phosphate homeostasis. 53 62
18037646 2007
41
Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets. 53 62
18046499 2007
42
PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets. 53 62
18162710 2007
43
Fibroblast growth factor 23 impairs phosphorus and vitamin D metabolism in vivo and suppresses 25-hydroxyvitamin D-1alpha-hydroxylase expression in vitro. 53 62
17699549 2007
44
[Hypophosphatemic rickets/osteomalacia. - Mainly on patients with PHEX mutations -]. 53 62
17906414 2007
45
Dentin structure in familial hypophosphatemic rickets: benefits of vitamin D and phosphate treatment. 53 62
17714351 2007
46
Regulation of phosphate homeostasis in infants, children, and adolescents, and the role of phosphatonins in this process. 53 62
17630616 2007
47
Hereditary hypophosphatemias: new genes in the bone-kidney axis. 53 62
17635744 2007
48
Emerging role of fibroblast growth factor 23 in a bone-kidney axis regulating systemic phosphate homeostasis and extracellular matrix mineralization. 53 62
17565275 2007
49
[Fibroblast growth factor (FGF) 23 works as a phosphate-regulating hormone and is involved in the pathogenesis of several disorders of phosphate metabolism]. 53 62
17657990 2007
50
Update in osteoporosis and metabolic bone disorders. 53 62
17341572 2007
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Variations for Hypophosphatemic Rickets, X-Linked Recessive

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

5 (show all 38)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLCN5 VAR Pathogenic
 208007 GRCh37:
GRCh38:
2 PTCHD1-AS, PHEX NM_000444.6(PHEX):c.2167_2170dup (p.Phe724Ter) DUP Pathogenic
 374096 rs1057518896 GRCh37: X:22265985-22265986
GRCh38: X:22247868-22247869
3 WDR72 NM_182758.4(WDR72):c.764_768del (p.Gly255fs) DEL Pathogenic
 1343811 GRCh37: 15:54003622-54003626
GRCh38: 15:53711425-53711429
4 PTCHD1-AS, PHEX NM_000444.6(PHEX):c.1768+1G>C SNV Pathogenic
 279976 rs886041296 GRCh37: X:22237221-22237221
GRCh38: X:22219104-22219104
5 PHEX NM_000444.6(PHEX):c.1202del (p.Pro401fs) DEL Pathogenic
 419401 rs1064793847 GRCh37: X:22132603-22132603
GRCh38: X:22114485-22114485
6 PTCHD1-AS, PHEX NM_000444.6(PHEX):c.1700+2T>C SNV Pathogenic
 438568 rs1556128253 GRCh37: X:22231077-22231077
GRCh38: X:22212960-22212960
7 PHEX NM_000444.6(PHEX):c.567_568del (p.Gln189fs) DEL Pathogenic
 1339438 GRCh37: X:22095723-22095724
GRCh38: X:22077605-22077606
8 PHEX NM_000444.6(PHEX):c.652_655del (p.His218fs) DEL Pathogenic
 1339439 GRCh37: X:22095808-22095811
GRCh38: X:22077690-22077693
9 PHEX NM_000444.6(PHEX):c.665_674del DEL Pathogenic
 1339440 GRCh37: X:22108545-22108554
GRCh38: X:22090427-22090436
10 PTCHD1-AS, PHEX NM_000444.6(PHEX):c.1920_1929del (p.Gly641fs) DEL Pathogenic
 1339441 GRCh37: X:22244579-22244588
GRCh38: X:22226462-22226471
11 PTCHD1-AS, PHEX NM_000444.6(PHEX):c.1965+1del DEL Pathogenic
 1339442 GRCh37: X:22244624-22244624
GRCh38: X:22226507-22226507
12 PHEX NM_000444.6(PHEX):c.1336_1337insAATA (p.Phe446Ter) INSERT Pathogenic
 1339443 GRCh37: X:22151673-22151674
GRCh38: X:22133556-22133557
13 DMP1 NM_004407.4(DMP1):c.2T>A (p.Met1Lys) SNV Pathogenic
 1339444 GRCh37: 4:88577646-88577646
GRCh38: 4:87656494-87656494
14 PTCHD1-AS, PHEX NM_000444.6(PHEX):c.2071-1G>C SNV Pathogenic
 1339456 GRCh37: X:22263449-22263449
GRCh38: X:22245332-22245332
15 PTCHD1-AS, PHEX NM_000444.6(PHEX):c.1966-1G>A SNV Pathogenic
 1339458 GRCh37: X:22245623-22245623
GRCh38: X:22227506-22227506
16 PHEX NM_000444.6(PHEX):c.663+1G>T SNV Pathogenic
 1339459 GRCh37: X:22095821-22095821
GRCh38: X:22077703-22077703
17 PHEX-AS1, PHEX NM_000444.6(PHEX):c.1482+2T>A SNV Pathogenic
 1339460 GRCh37: X:22186508-22186508
GRCh38: X:22168391-22168391
18 PHEX NM_000444.6(PHEX):c.826A>T (p.Arg276Ter) SNV Pathogenic
 1339461 GRCh37: X:22112194-22112194
GRCh38: X:22094076-22094076
19 FGF23 NM_020638.3(FGF23):c.536G>A (p.Arg179Gln) SNV Pathogenic
 36135 rs193922702 GRCh37: 12:4479729-4479729
GRCh38: 12:4370563-4370563
20 PHEX NM_000444.6(PHEX):c.1601C>T (p.Pro534Leu) SNV Pathogenic
 280076 rs886041363 GRCh37: X:22208575-22208575
GRCh38: X:22190458-22190458
21 PHEX NM_000444.6(PHEX):c.871C>T (p.Arg291Ter) SNV Pathogenic
 372454 rs866429868 GRCh37: X:22115094-22115094
GRCh38: X:22096976-22096976
22 PTCHD1-AS, PHEX NM_000444.6(PHEX):c.1970A>G (p.Tyr657Cys) SNV Pathogenic
 1343090 GRCh37: X:22245628-22245628
GRCh38: X:22227511-22227511
23 PHEX NM_000444.6(PHEX):c.985dup (p.His329fs) DUP Pathogenic
 420128 rs1556025994 GRCh37: X:22117170-22117171
GRCh38: X:22099052-22099053
24 PTCHD1-AS, PHEX NM_000444.6(PHEX):c.1979G>A (p.Trp660Ter) SNV Pathogenic
 280082 rs886041369 GRCh37: X:22245637-22245637
GRCh38: X:22227520-22227520
25 CLCN5 NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu) SNV Pathogenic
 11802 rs151340626 GRCh37: X:49850644-49850644
GRCh38: X:50085987-50085987
26 ENPP1 NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) SNV Likely Pathogenic
 13589 rs1044498 GRCh37: 6:132172368-132172368
GRCh38: 6:131851228-131851228
27 ENPP1 NM_006208.3(ENPP1):c.1831C>G (p.Leu611Val) SNV Likely Pathogenic
 161093 rs79079368 GRCh37: 6:132198239-132198239
GRCh38: 6:131877099-131877099
28 CLCN5 NM_001127898.4(CLCN5):c.1014+1G>A SNV Likely Pathogenic
 1334562 GRCh37: X:49850718-49850718
GRCh38: X:50086061-50086061
29 PTCHD1-AS, PHEX NM_000444.6(PHEX):c.2188G>T (p.Ala730Ser) SNV Likely Pathogenic
 1343094 GRCh37: X:22266008-22266008
GRCh38: X:22247891-22247891
30 CLCN5 NM_001127898.4(CLCN5):c.941C>A (p.Ser314Ter) SNV Likely Pathogenic
 1029478 rs151340626 GRCh37: X:49850644-49850644
GRCh38: X:50085987-50085987
31 PHEX NM_000444.6(PHEX):c.229T>A (p.Cys77Ser) SNV Likely Pathogenic
 1343086 GRCh37: X:22065209-22065209
GRCh38: X:22047091-22047091
32 PTCHD1-AS, PHEX NM_000444.6(PHEX):c.2048T>A (p.Leu683His) SNV Likely Pathogenic
 1339446 GRCh37: X:22245706-22245706
GRCh38: X:22227589-22227589
33 PHEX NM_000444.6(PHEX):c.1316T>G (p.Val439Gly) SNV Likely Pathogenic
 1339437 GRCh37: X:22151653-22151653
GRCh38: X:22133536-22133536
34 DMP1 NM_004407.4(DMP1):c.979C>T (p.Gln327Ter) SNV Likely Pathogenic
 505906 rs899142959 GRCh37: 4:88583909-88583909
GRCh38: 4:87662757-87662757
35 CLCN5 NM_001127898.4(CLCN5):c.1466C>T (p.Pro489Leu) SNV Uncertain Significance
 585284 rs782602018 GRCh37: X:49851436-49851436
GRCh38: X:50086779-50086779
36 CLCN5 NM_001127898.4(CLCN5):c.152G>A (p.Arg51Gln) SNV Uncertain Significance
 1049202 GRCh37: X:49807060-49807060
GRCh38: X:50042451-50042451
37 PHEX NM_000444.6(PHEX):c.118+7G>T SNV Uncertain Significance
 368159 rs534550003 GRCh37: X:22051248-22051248
GRCh38: X:22033130-22033130
38 HRAS, LRRC56 NM_005343.4(HRAS):c.278T>C (p.Ile93Thr) SNV Uncertain Significance
 1339457 GRCh37: 11:533778-533778
GRCh38: 11:533778-533778

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

73
# Symbol AA change Variation ID SNP ID
1 CLCN5 p.Ser314Leu VAR_001618 rs151340626

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Expression for Hypophosphatemic Rickets, X-Linked Recessive

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

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

# Super pathways Score Top Affiliating Genes
1
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) 66
Show member pathways
 12.07 MEPE FGF23 FAM20C DMP1
2
Vitamin D receptor pathway 74
11.94 VDR FGF23 CYP27B1 CYP24A1
3
Non-genomic actions of 1,25 dihydroxyvitamin D3 74
11.21 VDR CYP27B1 CYP24A1
4
Transcription_Role of VDR in regulation of genes involved in osteoporosis 22
11.09 VDR CYP27B1 CYP24A1
5
Nuclear receptors in lipid metabolism and toxicity 74
10.88 VDR CYP27B1 CYP24A1
6
PI3K/AKT/mTOR - vitamin D3 signaling 74
10.78 VDR CYP24A1
8
Vitamin D metabolism 74
10.13 VDR CYP27B1 CYP24A1
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GO Terms for Hypophosphatemic Rickets, X-Linked Recessive

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 10.11 FAM20C MEPE PHEX VDR
2 bone mineralization GO:0030282 10.05 PHEX ENPP1 CYP27B1
3 response to growth hormone GO:0060416 9.91 SLC34A1 PHEX
4 response to magnesium ion GO:0032026 9.91 SLC34A1 FGF23
5 cellular response to parathyroid hormone stimulus GO:0071374 9.91 SLC34A1 PHEX FGF23
6 phosphate ion transport GO:0006817 9.9 SLC34A3 SLC34A1
7 regulation of bone mineralization GO:0030500 9.89 FGF23 ENPP1 CYP27B1
8 response to sodium phosphate GO:1904383 9.88 PHEX FGF23
9 response to vitamin D GO:0033280 9.88 CYP24A1 CYP27B1 PHEX
10 sodium-dependent phosphate transport GO:0044341 9.86 SLC34A3 SLC34A1
11 vitamin metabolic process GO:0006766 9.85 CYP27B1 CYP24A1
12 cellular response to vitamin D GO:0071305 9.85 PHEX FGF23 CYP24A1
13 dentinogenesis GO:0097187 9.85 SLC34A1 FAM20C DSPP
14 positive regulation of vitamin D receptor signaling pathway GO:0070564 9.84 VDR CYP27B1
15 odontoblast differentiation GO:0071895 9.83 FAM20C DSPP
16 vitamin D receptor signaling pathway GO:0070561 9.81 VDR CYP24A1
17 vitamin D metabolic process GO:0042359 9.8 FGF23 CYP27B1 CYP24A1
18 vitamin D catabolic process GO:0042369 9.8 FGF23 CYP27B1 CYP24A1
19 organophosphate metabolic process GO:0019637 9.77 PHEX OCRL
20 phosphate ion homeostasis GO:0055062 9.76 SLC34A1 SFRP4 FGF23 ENPP1
21 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.73 CYP27B1 FGF23 VDR
22 cellular phosphate ion homeostasis GO:0030643 9.56 SLC34A3 SLC34A1 FGF23 ENPP1
23 biomineral tissue development GO:0031214 9.36 WDR72 PHEX MEPE FAM20C ENPP1 DSPP

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

# Name GO ID Score Top Affiliating Genes
1 sodium:phosphate symporter activity GO:0005436 9.26 SLC34A3 SLC34A1
2 voltage-gated chloride channel activity GO:0005247 8.92 CLCN7 CLCN5
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Sources for Hypophosphatemic Rickets, X-Linked Recessive

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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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