XLRHR
MCID: HYP798
MIFTS: 60

Hypophosphatemic Rickets, X-Linked Recessive (XLRHR)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Hypophosphatemic Rickets, X-Linked Recessive

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

Name: Hypophosphatemic Rickets, X-Linked Recessive 57 74 29 6
Hypophosphatemic Rickets 57 75 53 59 37 29 13 6 72
X-Linked Recessive Hypophosphatemic Rickets 12 37 15
Rickets, Hypophosphatemic, X-Linked Recessive 40
Hypophosphatemic Rickets Disorders 29
Familial Hypophosphatemic Rickets 72
Rickets Hypophosphatemic 55
Xlrhr 74

Characteristics:

Orphanet epidemiological data:

59
hypophosphatemic rickets
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant; Age of onset: All ages;

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
variable phenotypic severity
female carriers may have asymptomatic hypercalciuria or hypophosphatemia only
part of 'dent disease complex' (see )


HPO:

32
hypophosphatemic rickets, x-linked recessive:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080353
MeSH 44 D053098
ICD10 via Orphanet 34 E83.3
UMLS via Orphanet 73 C1704375 C2363065 C3536983
Orphanet 59 ORPHA437
MedGen 42 C1845168
UMLS 72 C1704375 C3536983

Summaries for Hypophosphatemic Rickets, X-Linked Recessive

NIH Rare Diseases : 53 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 (mutations) 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. Treatment involves taking phosphate and calcitriol in order to raise phosphate levels in the blood and promote normal bone formation.

MalaCards based summary : Hypophosphatemic Rickets, X-Linked Recessive, also known as hypophosphatemic rickets, is related to hereditary hypophosphatemic rickets and hypophosphatemic rickets, x-linked dominant. An important gene associated with Hypophosphatemic Rickets, X-Linked Recessive is CLCN5 (Chloride Voltage-Gated Channel 5), and among its related pathways/superpathways are Parathyroid hormone synthesis, secretion and action and Transcription_Role of VDR in regulation of genes involved in osteoporosis. The drugs Calcitriol and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and cortex, and related phenotypes are pectus excavatum and bowing of the long bones

Disease Ontology : 12 A rickets that has material basis in mutation in the CLCN5 gene on chromosome Xp11.22.

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)

KEGG : 37
X-linked recessive hypophosphatemic rickets (XLRH) is a form of X-linked hypercalciuric nephrolithiasis. Patients present with rickets or osteomalacia, hypophosphatemia, and a reduced renal threshold for phosphate reabsorption. But a number of features were atypical of X-linked dominant hypophosphatemic rickets. For example, they have hypercalciuria, and high levels of 1,25- dihydroxyvitamin D. Mutations in the CLCN5 gene have been reported to be associated with XLRH.

UniProtKB/Swiss-Prot : 74 Hypophosphatemic rickets, X-linked recessive: 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.

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

Related Diseases for Hypophosphatemic Rickets, X-Linked Recessive

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 167)
# Related Disease Score Top Affiliating Genes
1 hereditary hypophosphatemic rickets 35.1 SLC34A3 SLC34A1
2 hypophosphatemic rickets, x-linked dominant 34.1 SLC34A3 SLC34A1 PHEX FGF23 DMP1
3 autosomal recessive hypophosphatemic rickets 34.0 PHEX FGF23 ENPP1 DMP1
4 hypophosphatemic rickets, autosomal dominant 33.4 SLC34A3 SFRP4 PHEX MEPE FGF23
5 arterial calcification of infancy 33.0 PHEX FGF23 ENPP1
6 vitamin d-dependent rickets, type 2a 32.8 VDR PHEX CYP27B1
7 hyperparathyroidism 31.3 VDR PHEX FGF23 CYP27B1
8 hypophosphatemic rickets with hypercalciuria, hereditary 31.2 SLC34A3 SLC34A1 SFRP4 PHEX MEPE FGF23
9 nephrolithiasis, calcium oxalate 31.2 VDR SLC34A1 CLCN5
10 fanconi syndrome 31.1 SLC34A1 CLCN5
11 hypercalciuria, absorptive, 2 31.1 VDR SLC34A3 CLCN5
12 bone disease 30.9 VDR SLC34A3 FGF23
13 opsismodysplasia 30.8 PHEX FGF23
14 secondary hyperparathyroidism of renal origin 30.8 VDR FGF23 CYP27B1
15 enthesopathy 30.8 PHEX FGF23 DMP1
16 idiopathic hypercalciuria 30.7 VDR SLC34A3 CLCN5
17 renal osteodystrophy 30.7 VDR FGF23
18 nephrocalcinosis 30.6 SLC34A3 SLC34A1 PHEX CYP24A1 CLCN5
19 raine syndrome 30.6 FGF23 DMP1
20 hypervitaminosis d 30.5 VDR FGF23 CYP27B1
21 hyperphosphatemia 30.4 VDR SLC34A1 PHEX FGF23
22 aminoaciduria 30.4 SLC34A1 CLCN5
23 osteomalacia 30.2 VDR SFRP4 PHEX FGF23 DMP1 CYP24A1
24 hypophosphatasia 29.8 PHEX ENPP1 DSPP
25 rickets 29.8 VDR SLC34A3 SLC34A1 PHEX FGF23 ENPP1
26 oncogenic osteomalacia 29.7 SFRP4 PHEX MEPE FGF23 DMP1
27 hypophosphatemia 28.8 SLC34A3 SLC34A1 SFRP4 PHEX FGF23 ENPP1
28 osteoporosis 28.8 VDR SLC34A1 MEPE FGF23 CYP27B1
29 hypophosphatemic rickets, autosomal recessive, 2 12.9
30 hypophosphatemic rickets, autosomal recessive, 1 12.9
31 hypophosphatemic rickets and hyperparathyroidism 12.7
32 dent disease 1 11.8
33 fanconi renotubular syndrome 1 11.7
34 lowe oculocerebrorenal syndrome 11.7
35 ossification of the posterior longitudinal ligament of spine 11.7
36 tumoral calcinosis, hyperphosphatemic, familial, 1 11.4
37 tyrosinemia, type i 11.4
38 fanconi renotubular syndrome 2 11.4
39 fanconi renotubular syndrome 3 11.4
40 tumoral calcinosis, hyperphosphatemic, familial, 2 11.4
41 tumoral calcinosis, hyperphosphatemic, familial, 3 11.4
42 cystinosis 11.4
43 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.4
44 secondary hyperparathyroidism 10.7
45 craniosynostosis 10.6
46 nevus, epidermal 10.5
47 synostosis 10.5
48 dental abscess 10.4
49 fibrous dysplasia 10.4
50 renal tubular acidosis 10.4

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



Diseases related to Hypophosphatemic Rickets, X-Linked Recessive

Symptoms & Phenotypes for Hypophosphatemic Rickets, X-Linked Recessive

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

59 32 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000767
2 bowing of the long bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0006487
3 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
4 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
5 exostoses 59 32 hallmark (90%) Very frequent (99-80%) HP:0100777
6 dolichocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000268
7 delayed eruption of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000684
8 abnormality of dental enamel 59 32 hallmark (90%) Very frequent (99-80%) HP:0000682
9 abnormal calcium-phosphate regulating hormone level 32 hallmark (90%) HP:0100530
10 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
11 craniosynostosis 59 32 frequent (33%) Frequent (79-30%) HP:0001363
12 hypophosphatemia 32 HP:0002148
13 rickets 32 HP:0002748
14 hypercalciuria 32 HP:0002150
15 nephrocalcinosis 32 HP:0000121
16 nephrolithiasis 32 HP:0000787
17 osteomalacia 32 HP:0002749
18 recurrent fractures 32 HP:0002757
19 abnormality of calcium-phosphate metabolism 59 Very frequent (99-80%)
20 bone pain 32 HP:0002653
21 proximal tubulopathy 32 HP:0000114
22 chronic kidney disease 32 HP:0012622
23 femoral bowing 32 HP:0002980
24 tibial bowing 32 HP:0002982
25 bowing of the legs 32 HP:0002979
26 hypophosphatemic rickets 32 HP:0004912
27 delayed epiphyseal ossification 32 HP:0002663
28 thin bony cortex 32 HP:0002753
29 fibular bowing 32 HP:0010502
30 renal phosphate wasting 32 HP:0000117
31 sparse bone trabeculae 32 HP:0002752
32 bulging epiphyses 32 HP:0003013
33 enlargement of the wrists 32 HP:0003020
34 metaphyseal irregularity 32 HP:0003025
35 enlargement of the ankles 32 HP:0003029
36 low-molecular-weight proteinuria 32 HP:0003126
37 increased serum 1,25-dihydroxyvitamin d3 32 HP:0003152

Symptoms via clinical synopsis from OMIM:

57
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:
nephrocalcinosis
nephrolithiasis
proximal renal tubule defect
decreased renal tubular phosphate reabsorption
renal insufficiency, progressive
more
Growth Other:
poor growth

Clinical features from OMIM:

300554

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.11 CLCN5 CYP24A1 CYP27B1 DMP1 ENPP1 FGF23
2 homeostasis/metabolism MP:0005376 10.06 CLCN5 CYP24A1 CYP27B1 DMP1 ENPP1 FGF23
3 cardiovascular system MP:0005385 9.88 DMP1 ENPP1 FGF23 PHEX SFRP4 VDR
4 immune system MP:0005387 9.86 CYP27B1 DMP1 ENPP1 FGF23 MEPE PHEX
5 limbs/digits/tail MP:0005371 9.7 CYP27B1 DMP1 ENPP1 FGF23 PHEX SFRP4
6 renal/urinary system MP:0005367 9.7 CLCN5 CYP24A1 CYP27B1 DMP1 ENPP1 FGF23
7 skeleton MP:0005390 9.4 CLCN5 CYP24A1 CYP27B1 DMP1 ENPP1 FGF23

Drugs & Therapeutics for Hypophosphatemic Rickets, X-Linked Recessive

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

(show top 50) (show all 75)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 5280453 134070
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
3 Micronutrients Phase 4
4 Trace Elements Phase 4
5 Vitamins Phase 4
6 Nutrients Phase 4
7 Bone Density Conservation Agents Phase 4
8 Vasoconstrictor Agents Phase 4
9 Calciferol Phase 4
10
Parathyroid hormone Approved, Investigational Phase 3 9002-64-6
11
Ergocalciferol Approved, Nutraceutical Phase 3 50-14-6 5280793
12 Vitamin D2 Phase 3
13 Ergocalciferols Phase 3
14 Antibodies Phase 3
15 Immunologic Factors Phase 3
16 Antibodies, Monoclonal Phase 3
17 Immunoglobulins Phase 3
18 Pharmaceutical Solutions Phase 3
19 Immunoglobulin G Phase 2
20
Canagliflozin Approved Phase 1 842133-18-0
21
Cinacalcet Approved Phase 1 226256-56-0 156419
22
Calcium Approved, Nutraceutical Phase 1 7440-70-2 271
23 Mitogens Phase 1
24 Sodium-Glucose Transporter 2 Inhibitors Phase 1
25 Hypoglycemic Agents Phase 1
26 Hormones Phase 1
27 Hormone Antagonists Phase 1
28 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
29 Calcimimetic Agents Phase 1
30 Calcium, Dietary Phase 1
31
Sevelamer Approved 52757-95-6
32
Salmon Calcitonin Approved, Investigational 47931-85-1 16129616
33
leucovorin Approved 58-05-9 143 6006
34
Hydroxocobalamin Approved 13422-51-0 11953898 15589840
35
Nicotinamide Approved, Investigational 98-92-0 936
36
Ferrous gluconate Approved 299-29-6
37
Iron Approved, Experimental 15438-31-0, 7439-89-6 23925 27284
38
Angiotensin II Approved, Investigational 11128-99-7, 68521-88-0, 4474-91-3 172198
39
Alfacalcidol Approved, Nutraceutical 41294-56-8 5282181
40
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
41
Vitamin D3 Approved, Nutraceutical 67-97-0 6221 5280795
42
Vitamin A Approved, Nutraceutical, Vet_approved 22737-96-8, 11103-57-4, 68-26-8 9904001 445354
43
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
44
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
45
Thiamine Approved, Investigational, Nutraceutical, Vet_approved 59-43-8, 70-16-6 1130
46
Calcitonin gene-related peptide Investigational 83652-28-2
47
Cobalamin Experimental 13408-78-1 6857388
48 Chelating Agents
49 Hydroxycholecalciferols
50 Neurotransmitter Agents

Interventional clinical trials:

(show all 45)
# Name Status NCT ID Phase Drugs
1 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
2 Therapeutic Use of Oral Sodium Phosphate (Z-521) in Primary Hypophosphatemic Rickets Completed NCT01237288 Phase 3 Z-521
3 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
4 The Role of Parathyroid Hormone in the Pathogenesis of Skeletal Disease in X-linked Hypophosphatemic Rickets (XLH) Completed NCT00417612 Phase 3 Paricalcitol
5 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;active vitamin D
6 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
7 A Phase 3b Open-label Study of the Anti-FGF23 Antibody, Burosumab (KRN23) in Adult Patients With X-linked Hypophosphatemia (XLH) Recruiting NCT03920072 Phase 3 Burosumab
8 A Phase 3 Open-Label Trial to Assess the Efficacy and Safety of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Active, not recruiting NCT03233126 Phase 3 KRN23
9 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 Active, not recruiting NCT03581591 Phase 3
10 Proposition Pour un Traitement Par Hormone de Croissance Des Enfants Atteints de Rachitisme Hypophosphatemique Familial Completed NCT02720770 Phase 1, Phase 2 norditropine simplex
11 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
12 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
13 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
14 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
15 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) Active, not recruiting NCT02750618 Phase 2
16 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
17 Effect of Calcimimetic (Cinacalcet) on Phosphate-Induced Hyperparathyroidism in Children With Hypophosphatemic Rickets Unknown status NCT00195936 Phase 1 Cinacalcet
18 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
19 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
20 Acute Effects of Canagliflozin, a Sodium Glucose Co-Transporter 2 (SGLT2) Inhibitor on Bone Metabolism in Healthy Volunteers Recruiting NCT02404870 Phase 1 Placebo;Canagliflozin
21 Open-label Dose-titration Study of the Tolerability and Efficacy of Cinacalcet to Treat Fibroblast Growth Factor 23 (FGF23)-Mediated Hypophosphatemia Terminated NCT01748812 Phase 1 Osteomalacia
22 Hypophosphatemic Rickets in Norway Unknown status NCT01057186 Sevelamer
23 Effect of Cinacalcet on the Long-Term Treatment of Familial Hypophosphatemic Rickets Unknown status NCT00844740 Cinacalcet
24 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Unknown status NCT01660308
25 A Cross-Sectional Study To Investigate The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone Formers Unknown status NCT01526304
26 Milk Products in the Treatment of Hypophosphatemic Rickets: A Randomised Crossover Trial Completed NCT03348644
27 Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent Patients Completed NCT01578824
28 Calcitonin for Treating X-linked Hypophosphatemia Completed NCT01652573 nasal salmon calcitonin;Saline Nasal Spray Placebo
29 Effects Of Vitamin D Replacement Therapy on Serum FGF-23 Concentrations in Vitamin D Deficient Women In Short Term Completed NCT01102751
30 Effect of Vitamin D3 Supplementation Over 25-hydroxivitamin D (25-OH-D) Status in Children From 12-30 Months of Age: Randomized Clinical Trial Completed NCT03544671
31 Effect of Different Vitamin D Preparations on Circulating FGF23 Levels in Vitamin D Deficient Caucasian and African-American Men and Women Completed NCT00957879
32 Studies in Phosphorus Metabolism Completed NCT00066183
33 An International, Multicenter, Prospective, Longitudinal Observational Study for Patient With X-linked Hypophosphatemic Rickets/Osteomalacia Recruiting NCT03745521
34 X-linked Hypophosphatemia Disease Monitoring Program (XLH-DMP) Recruiting NCT03651505
35 Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Recruiting NCT02233322
36 Calcitriol Monotherapy for X-Linked Hypophosphatemia: Effects on Mineral Ions, Growth and Skeletal Parameters Recruiting NCT03748966 Early Phase 1 Calcitriol
37 The Natural History of Generalized Arterial Calcification of Infancy (GACI) With or Without Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) or Pseudoxanthoma Elasticum (PXE) Recruiting NCT03758534
38 Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Recruiting NCT03478839
39 Retrospective and Prospective Disease Progression and Quality of Life in X-linked Hypophosphatemia (XLH) Recruiting NCT04049877
40 An International, Multicentre, Prospective, Non-interventional Observational Registry for Patients With X-linked Hypophosphatemia (XLH) Recruiting NCT03193476
41 Interplay of FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP) Recruiting NCT03489993
42 Individual Patient Compassionate Use of Burosumab Available NCT03775187
43 The Impact of Phosphate Metabolism on Healthy Aging Not yet recruiting NCT03771105 Early Phase 1 phosphate
44 X-linked Hypophosphatemia and Carbohydrate and Lipid Metabolism: a Role for FGF21? Not yet recruiting NCT03596554
45 Dental Implants in Patients With X-linked Hypophosphatemia Not yet recruiting NCT03879915

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

Genetic Tests for Hypophosphatemic Rickets, X-Linked Recessive

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

# Genetic test Affiliating Genes
1 Hypophosphatemic Rickets, X-Linked Recessive 29 CLCN5
2 Hypophosphatemic Rickets 29
3 Hypophosphatemic Rickets Disorders 29

Anatomical Context for Hypophosphatemic Rickets, X-Linked Recessive

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

41
Bone, Kidney, Cortex, Breast, Testes, Spinal Cord, Heart

Publications for Hypophosphatemic Rickets, X-Linked Recessive

Articles related to Hypophosphatemic Rickets, X-Linked Recessive:

(show top 50) (show all 990)
# Title Authors PMID Year
1
Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets. 38 8 71
7915957 1993
2
A second family with XLRH displays the mutation S244L in the CLCN5 gene. 8 71
9187673 1997
3
A common molecular basis for three inherited kidney stone diseases. 8 71
8559248 1996
4
Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms. 8
15558518 2004
5
X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. 8
9452994 1998
6
[Bone and joint diseases in children. Rickets]. 9 38
20513940 2010
7
Regulation of phosphate transport by fibroblast growth factor 23 (FGF23): implications for disorders of phosphate metabolism. 9 38
19669798 2010
8
Preproenkephalin (Penk) is expressed in differentiated osteoblasts, and its deletion in Hyp mice partially rescues their bone mineralization defect. 9 38
20204609 2010
9
[Disorders of phosphate metabolism]. 9 38
20408440 2010
10
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. 9 38
20137773 2010
11
Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. 9 38
20137772 2010
12
Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report. 9 38
20074341 2010
13
MEPE's diverse effects on mineralization. 9 38
19998030 2010
14
Therapeutic effects of anti-FGF23 antibodies in hypophosphatemic rickets/osteomalacia. 9 38
19419316 2009
15
The journey from vitamin D-resistant rickets to the regulation of renal phosphate transport. 9 38
19808223 2009
16
Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/type IIc sodium-phosphate cotransporter: presentation as hypercalciuria and nephrolithiasis. 9 38
19820004 2009
17
Familial hypophosphatemic rickets caused by a large deletion in PHEX gene. 9 38
19581284 2009
18
Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets. 9 38
19513579 2009
19
[Clinical aspect of recent progress in phosphate metabolism. Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23)]. 9 38
19483276 2009
20
PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets. 9 38
19219621 2009
21
Fibroblast growth factor 23 (FGF23) and the kidney. 9 38
19569031 2009
22
X-linked hypophosphatemic rickets and craniosynostosis. 9 38
19242361 2009
23
A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets. 9 38
19429806 2009
24
Dentin noncollagenous matrix proteins in familial hypophosphatemic rickets. 9 38
18701809 2009
25
Fibroblast Growth Factor 23 (FGF23) and Disorders of Phosphate Metabolism. 9 38
19956747 2009
26
[Rickets]. 9 38
19122271 2009
27
A case of X-linked hypophosphatemic rickets: complications and the therapeutic use of cinacalcet. 9 38
18775977 2008
28
Vitamin D receptor genotype in hypophosphatemic rickets as a predictor of growth and response to treatment. 9 38
18827005 2008
29
Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets. 9 38
18625346 2008
30
A patient with hypophosphatemia, a femoral fracture, and recurrent kidney stones: report of a novel mutation in SLC34A3. 9 38
18996815 2008
31
Regulation of phosphate homeostasis by the phosphatonins and other novel mediators. 9 38
18288501 2008
32
Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23) in hypophosphatemic patients: proposal of diagnostic criteria using FGF23 measurement. 9 38
18396126 2008
33
Degradation of MEPE, DMP1, and release of SIBLING ASARM-peptides (minhibins): ASARM-peptide(s) are directly responsible for defective mineralization in HYP. 9 38
18162525 2008
34
Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene. 9 38
18252791 2008
35
A mouse model with postnatal endolymphatic hydrops and hearing loss. 9 38
18289812 2008
36
Generation of a conditional null allele for Dmp1 in mouse. 9 38
18257058 2008
37
A novel Phex mutation with defective glycosylation causes hypophosphatemia and rickets in mice. 9 38
17710565 2008
38
Dentin matrix protein 1 (DMP1): new and important roles for biomineralization and phosphate homeostasis. 9 38
18037646 2007
39
Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets. 9 38
18046499 2007
40
PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets. 9 38
18162710 2007
41
Fibroblast growth factor 23 impairs phosphorus and vitamin D metabolism in vivo and suppresses 25-hydroxyvitamin D-1alpha-hydroxylase expression in vitro. 9 38
17699549 2007
42
[Hypophosphatemic rickets/osteomalacia. - Mainly on patients with PHEX mutations -]. 9 38
17906414 2007
43
Dentin structure in familial hypophosphatemic rickets: benefits of vitamin D and phosphate treatment. 9 38
17714351 2007
44
Regulation of phosphate homeostasis in infants, children, and adolescents, and the role of phosphatonins in this process. 9 38
17630616 2007
45
Hereditary hypophosphatemias: new genes in the bone-kidney axis. 9 38
17635744 2007
46
Emerging role of fibroblast growth factor 23 in a bone-kidney axis regulating systemic phosphate homeostasis and extracellular matrix mineralization. 9 38
17565275 2007
47
[Fibroblast growth factor (FGF) 23 works as a phosphate-regulating hormone and is involved in the pathogenesis of several disorders of phosphate metabolism]. 9 38
17657990 2007
48
Update in osteoporosis and metabolic bone disorders. 9 38
17341572 2007
49
Novel PHEX mutation associated with hypophosphatemic rickets. 9 38
17406123 2007
50
Hypophosphatemic rickets in opsismodysplasia. 9 38
17315533 2007

Variations for Hypophosphatemic Rickets, X-Linked Recessive

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PHEX NM_000444.6(PHEX): c.2167_2170dup (p.Phe724Ter) duplication Pathogenic rs1057518896 X:22265987-22265990 X:22247870-22247873
2 CLCN5 undetermined variant Pathogenic
3 DMP1 NM_004407.4(DMP1): c.979C> T (p.Gln327Ter) single nucleotide variant Likely pathogenic rs899142959 4:88583909-88583909 4:87662757-87662757
4 CLCN5 NM_001127899.4(CLCN5): c.941C> T (p.Ser314Leu) single nucleotide variant Likely pathogenic rs151340626 X:49850644-49850644 X:50085987-50085987
5 CLCN5 NM_001127899.4(CLCN5): c.1466C> T (p.Pro489Leu) single nucleotide variant Uncertain significance X:49851436-49851436 X:50086779-50086779

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

74
# Symbol AA change Variation ID SNP ID
1 CLCN5 p.Ser244Leu VAR_001618 rs151340626

Expression for Hypophosphatemic Rickets, X-Linked Recessive

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

Pathways for Hypophosphatemic Rickets, X-Linked Recessive

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

# Super pathways Score Top Affiliating Genes
1 11.13 VDR SLC34A3 SLC34A1 FGF23 CYP27B1 CYP24A1
2 11.09 VDR CYP27B1 CYP24A1
3 10.88 VDR CYP27B1 CYP24A1
4 10.13 VDR CYP27B1 CYP24A1

GO Terms for Hypophosphatemic Rickets, X-Linked Recessive

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.84 SLC34A1 MEPE FGF23 DMP1
2 skeletal system development GO:0001501 9.78 VDR PHEX MEPE DSPP
3 ossification GO:0001503 9.76 SLC34A1 DSPP DMP1
4 regulation of bone mineralization GO:0030500 9.63 FGF23 ENPP1 CYP27B1
5 bone mineralization GO:0030282 9.62 PHEX CYP27B1
6 decidualization GO:0046697 9.62 VDR CYP27B1
7 phosphate-containing compound metabolic process GO:0006796 9.61 FGF23 ENPP1
8 positive regulation of keratinocyte differentiation GO:0045618 9.61 VDR CYP27B1
9 response to vitamin D GO:0033280 9.61 PHEX CYP27B1 CYP24A1
10 response to magnesium ion GO:0032026 9.6 SLC34A1 FGF23
11 response to growth hormone GO:0060416 9.59 SLC34A1 PHEX
12 cellular response to vitamin D GO:0071305 9.58 PHEX FGF23
13 cellular response to parathyroid hormone stimulus GO:0071374 9.58 SLC34A1 PHEX FGF23
14 phosphate ion transport GO:0006817 9.57 SLC34A3 SLC34A1
15 vitamin metabolic process GO:0006766 9.56 CYP27B1 CYP24A1
16 sodium-dependent phosphate transport GO:0044341 9.55 SLC34A3 SLC34A1
17 phosphate ion homeostasis GO:0055062 9.54 SLC34A1 SFRP4 FGF23
18 dentinogenesis GO:0097187 9.52 SLC34A1 DSPP
19 vitamin D receptor signaling pathway GO:0070561 9.51 VDR CYP24A1
20 vitamin D catabolic process GO:0042369 9.5 FGF23 CYP27B1 CYP24A1
21 response to sodium phosphate GO:1904383 9.49 PHEX FGF23
22 vitamin D metabolic process GO:0042359 9.46 VDR FGF23 CYP27B1 CYP24A1
23 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.43 VDR FGF23 CYP27B1
24 biomineral tissue development GO:0031214 9.35 PHEX MEPE ENPP1 DSPP DMP1
25 cellular phosphate ion homeostasis GO:0030643 8.92 SLC34A3 SLC34A1 FGF23 ENPP1

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 8.96 SLC34A3 SLC34A1
2 sodium-dependent phosphate transmembrane transporter activity GO:0015321 8.62 SLC34A3 SLC34A1

Sources for Hypophosphatemic Rickets, X-Linked Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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44 MeSH
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49 NCI
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51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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