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 72 29 6
Hypophosphatemic Rickets 57 73 20 58 36 29 13 6 70
X-Linked Recessive Hypophosphatemic Rickets 12 36 15
Rickets, Hypophosphatemic, X-Linked Recessive 39
Hypophosphatemic Rickets Disorders 29
Familial Hypophosphatemic Rickets 70
Rickets Hypophosphatemic 54
Xlrhr 72

Characteristics:

Orphanet epidemiological data:

58
hypophosphatemic rickets
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant; Age of onset: All ages;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked recessive

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


HPO:

31
hypophosphatemic rickets, x-linked recessive:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare renal diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080353
OMIM® 57 300554
OMIM Phenotypic Series 57 PS193100
MeSH 44 D053098
ICD10 via Orphanet 33 E83.3
UMLS via Orphanet 71 C1704375 C2363065 C3536983
Orphanet 58 ORPHA437
MedGen 41 C1845168
UMLS 70 C1704375 C3536983

Summaries for Hypophosphatemic Rickets, X-Linked Recessive

GARD : 20 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 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 Mineral absorption and Parathyroid hormone synthesis, secretion and action. The drugs Calcitriol and Micronutrients have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and heart, and related phenotypes are hypophosphatemia and rickets

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) (Updated 20-May-2021)

KEGG : 36 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 : 72 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 : 73 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 190)
# Related Disease Score Top Affiliating Genes
1 hereditary hypophosphatemic rickets 33.1 SLC34A3 SLC34A1
2 hypophosphatemic rickets with hypercalciuria, hereditary 32.2 SLC34A3 SLC34A1 PHEX MEPE FGF23 ENPP1
3 dent disease 1 32.0 SLC34A3 SLC34A1 OCRL CLCN5
4 vitamin d-dependent rickets, type 2a 31.9 VDR PTCHD1-AS PHEX CYP27B1
5 arterial calcification of infancy 31.9 SLC34A3 PHEX FGF23 ENPP1
6 fanconi renotubular syndrome 2 31.9 SLC34A3 SLC34A1 PHEX
7 hypophosphatemic rickets, autosomal dominant 31.2 SLC34A3 SLC34A1 SFRP4 PHEX MEPE FGF23
8 hyperparathyroidism 31.1 VDR PHEX FGF23 CYP27B1
9 tumoral calcinosis, hyperphosphatemic, familial, 1 31.0 SLC34A3 PHEX MEPE FGF23 ENPP1 CYP27B1
10 autosomal recessive hypophosphatemic rickets 30.9 SLC34A3 SFRP4 PHEX MEPE FGF23 ENPP1
11 bone disease 30.8 VDR SLC34A3 PHEX FGF23
12 hypercalciuria, absorptive, 2 30.7 VDR SLC34A3 CLCN5
13 oncogenic osteomalacia 30.7 SFRP4 PHEX MEPE FGF23 DMP1
14 nevus, epidermal 30.5 PHEX MEPE FGF23 ENPP1
15 nephrolithiasis, calcium oxalate 30.5 VDR SLC34A1 CLCN5
16 secondary hyperparathyroidism 30.4 VDR PHEX FGF23 CYP27B1 CYP24A1
17 idiopathic hypercalciuria 30.4 VDR SLC34A3 CLCN5
18 opsismodysplasia 30.4 PHEX FGF23
19 hypophosphatemic rickets, x-linked dominant 30.3 SLC34A3 SLC34A1 SFRP4 PTCHD1-AS PHEX MEPE
20 raine syndrome 30.3 FGF23 DMP1
21 dental caries 30.3 VDR DSPP DMP1
22 vitamin d-dependent rickets 30.2 VDR PTCHD1-AS PHEX CYP27B1
23 nephrolithiasis 30.2 VDR SLC34A3 SLC34A1 FGF23 CYP24A1 CLCN5
24 aminoaciduria 30.2 SLC34A1 OCRL CLCN5
25 nephrolithiasis/osteoporosis, hypophosphatemic, 1 30.1 SLC34A3 SLC34A1 FGF23
26 primary hyperparathyroidism 30.1 VDR FGF23 CYP27B1
27 nephrocalcinosis 30.1 SLC34A3 SLC34A1 PHEX OCRL CYP24A1 CLCN5
28 enthesopathy 30.0 SLC34A3 PHEX MEPE FGF23 ENPP1
29 hyperphosphatemia 30.0 VDR SLC34A1 SFRP4 PHEX FGF23
30 dentin dysplasia 29.9 MEPE DSPP DMP1
31 brittle bone disorder 29.8 SLC34A1 PHEX MEPE DSPP
32 fanconi syndrome 29.8 SLC34A3 SLC34A1 PHEX OCRL FGF23 CLCN5
33 dental abscess 29.7 SLC34A3 PHEX MEPE FGF23 ENPP1 DSPP
34 hypophosphatasia 29.6 PHEX FGF23 ENPP1 DSPP
35 hypervitaminosis d 29.6 VDR FGF23 CYP27B1 CYP24A1
36 kidney disease 29.6 VDR FGF23 ENPP1 CYP27B1 CLCN5
37 schimmelpenning-feuerstein-mims syndrome 29.4 SLC34A3 SFRP4 PHEX MEPE FGF23 ENPP1
38 osteomalacia 29.1 VDR SLC34A3 SLC34A1 SFRP4 PHEX MEPE
39 osteoporosis 29.1 VDR SLC34A1 MEPE FGF23 DMP1 CYP27B1
40 rickets 28.6 VDR SLC34A3 SLC34A1 PTCHD1-AS PHEX OCRL
41 hypophosphatemia 28.5 VDR SLC34A3 SLC34A1 SFRP4 PHEX OCRL
42 hypophosphatemic rickets, autosomal recessive, 2 11.8
43 hypophosphatemic rickets, autosomal recessive, 1 11.7
44 hypophosphatemic rickets and hyperparathyroidism 11.4
45 fanconi renotubular syndrome 1 11.3
46 lowe oculocerebrorenal syndrome 11.1
47 ossification of the posterior longitudinal ligament of spine 11.1
48 tyrosinemia, type i 11.1
49 fanconi renotubular syndrome 3 11.1
50 tumoral calcinosis, hyperphosphatemic, familial, 2 11.1

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:

58 31 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypophosphatemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002148
2 rickets 58 31 hallmark (90%) Very frequent (99-80%) HP:0002748
3 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
4 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
5 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
6 bowing of the long bones 58 31 frequent (33%) Frequent (79-30%) HP:0006487
7 osteomalacia 58 31 frequent (33%) Frequent (79-30%) HP:0002749
8 disproportionate short stature 58 31 frequent (33%) Frequent (79-30%) HP:0003498
9 hyperphosphaturia 58 31 frequent (33%) Frequent (79-30%) HP:0003109
10 elevated alkaline phosphatase 58 31 frequent (33%) Frequent (79-30%) HP:0003155
11 abnormal lower limb bone morphology 58 31 frequent (33%) Frequent (79-30%) HP:0040069
12 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
13 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
14 hypercalciuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002150
15 low levels of vitamin d 58 31 occasional (7.5%) Occasional (29-5%) HP:0100512
16 calcification of the aorta 58 31 occasional (7.5%) Occasional (29-5%) HP:0004963
17 hypocalciuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0003127
18 enthesitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100686
19 bone fracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0020110
20 renal phosphate wasting 58 31 occasional (7.5%) Occasional (29-5%) HP:0000117
21 low serum calcitriol 58 31 occasional (7.5%) Occasional (29-5%) HP:0012052
22 periapical tooth abscess 58 31 occasional (7.5%) Occasional (29-5%) HP:0030758
23 shell teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000694
24 precocious puberty 58 31 very rare (1%) Very rare (<4-1%) HP:0000826
25 multiple cafe-au-lait spots 58 31 very rare (1%) Very rare (<4-1%) HP:0007565
26 nephrocalcinosis 58 31 very rare (1%) Very rare (<4-1%) HP:0000121
27 hyperparathyroidism 58 31 very rare (1%) Very rare (<4-1%) HP:0000843
28 hyperthyroidism 58 31 very rare (1%) Very rare (<4-1%) HP:0000836
29 hypercalcemia 58 31 very rare (1%) Very rare (<4-1%) HP:0003072
30 hyperostosis 58 31 very rare (1%) Very rare (<4-1%) HP:0100774
31 craniofacial osteosclerosis 58 31 very rare (1%) Very rare (<4-1%) HP:0005464
32 fibrous dysplasia of the bones 58 31 very rare (1%) Very rare (<4-1%) HP:0010734
33 elevated circulating parathyroid hormone level 58 31 very rare (1%) Very rare (<4-1%) HP:0003165
34 parathyroid hyperplasia 58 31 very rare (1%) Very rare (<4-1%) HP:0008208
35 craniofacial asymmetry 58 31 very rare (1%) Very rare (<4-1%) HP:0004484
36 patchy variation in bone mineral density 58 31 very rare (1%) Very rare (<4-1%) HP:0010659
37 abnormality of the dentition 58 Occasional (29-5%)
38 short stature 31 HP:0004322
39 nephrolithiasis 31 HP:0000787
40 recurrent fractures 31 HP:0002757
41 proximal tubulopathy 31 HP:0000114
42 femoral bowing 31 HP:0002980
43 tibial bowing 31 HP:0002982
44 tooth abscess 58 Occasional (29-5%)
45 chronic kidney disease 31 HP:0012622
46 ectopic calcification 58 Occasional (29-5%)
47 fibular bowing 31 HP:0010502
48 metaphyseal irregularity 31 HP:0003025
49 bowing of the legs 31 HP:0002979
50 delayed epiphyseal ossification 31 HP:0002663

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 10.15 CLCN5 CYP24A1 CYP27B1 DMP1 ENPP1 FGF23
2 homeostasis/metabolism MP:0005376 10.1 CLCN5 CYP24A1 CYP27B1 DMP1 ENPP1 FGF23
3 renal/urinary system MP:0005367 9.93 CLCN5 CYP24A1 CYP27B1 DMP1 ENPP1 FGF23
4 craniofacial MP:0005382 9.88 CLCN5 CYP27B1 DMP1 ENPP1 PHEX VDR
5 limbs/digits/tail MP:0005371 9.8 CYP27B1 DMP1 ENPP1 FGF23 PHEX SFRP4
6 reproductive system MP:0005389 9.56 CYP24A1 CYP27B1 FGF23 OCRL SFRP4 SLC34A1
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 all 42)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 134070 5280453
2 Micronutrients Phase 4
3 Trace Elements Phase 4
4 Nutrients Phase 4
5 Hormones Phase 4
6 Vasoconstrictor Agents Phase 4
7 Calcium, Dietary Phase 4
8 Mitogens Phase 4
9 Immunologic Factors Phase 4
10 Immunoglobulins Phase 4
11 Antibodies Phase 4
12 Antibodies, Monoclonal Phase 4
13
Calcium Nutraceutical Phase 4 7440-70-2 271
14
Parathyroid hormone Approved, Investigational Phase 3 9002-64-6
15 Pharmaceutical Solutions Phase 3
16 Hormone Antagonists Phase 1, Phase 2
17
Cinacalcet Approved Phase 1 226256-56-0 156419
18
Sevelamer Approved 52757-95-6
19
Salmon calcitonin Approved, Investigational 47931-85-1 16129616
20
Iron Approved 7439-89-6 23925 29936
21
Ferrous gluconate Approved 299-29-6
22
Sodium citrate Approved, Investigational 68-04-2
23
Alfacalcidol Approved, Nutraceutical 41294-56-8 5282181
24
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
25
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
26
Calcitonin gene-related peptide Investigational 83652-28-2
27 Hydroxycholecalciferols
28 Chelating Agents
29 Vasodilator Agents
30 Katacalcin
31 calcitonin
32 Hematinics
33 Iron Supplement
34 Neurotransmitter Agents
35 Respiratory System Agents
36 Cholinergic Agents
37 Methacholine Chloride
38 Muscarinic Agonists
39 Dihydroxycholecalciferols Early Phase 1
40 Citrate
41 Calciferol
42 Vitamins

Interventional clinical trials:

(show all 47)
# 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 12-months of Treatment With Burosumab in Children and Adolescents With X-linked Hypophosphatemia: a Prospective Longitudinal Cohort Study Recruiting NCT04419363 Phase 4 Burosumab Injection
3 Examining the Effect of Burosumab on Muscle Function Using MR Spectroscopy Recruiting NCT04146935 Phase 4 Burosumab Injection [Crysvita]
4 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 Active, not recruiting NCT04320316 Phase 4 Crysvita (burosumab-twza) Treatment
5 Therapeutic Use of Oral Sodium Phosphate (Z-521) in Primary Hypophosphatemic Rickets Completed NCT01237288 Phase 3 Z-521
6 A Phase 3 Open-Label Trial to Assess the Efficacy and Safety of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Completed NCT03233126 Phase 3 KRN23
7 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
8 The Role of Parathyroid Hormone in the Pathogenesis of Skeletal Disease in X-linked Hypophosphatemic Rickets (XLH) Completed NCT00417612 Phase 3 Paricalcitol
9 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
10 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
11 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
12 An Investigator-sponsored Phase 3b Open-label Study of Anti- FGF23 Antibody Burosumab (KRN23) in Adult Patients With Xlinked Hypophosphatemia (XLH) in GERmany - BurGER Recruiting NCT04695860 Phase 3 Burosumab
13 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
14 A Phase 3 Long-term Extension Study of KRN23 in Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Active, not recruiting NCT04308096 Phase 3 KRN23
15 Proposition Pour un Traitement Par Hormone de Croissance Des Enfants Atteints de Rachitisme Hypophosphatemique Familial Completed NCT02720770 Phase 1, Phase 2 norditropine simplex
16 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
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 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
19 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
20 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
21 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) Recruiting NCT04188964 Phase 1, Phase 2 Burosumab
22 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
23 Effect of Calcimimetic (Cinacalcet) on Phosphate-Induced Hyperparathyroidism in Children With Hypophosphatemic Rickets Completed NCT00195936 Phase 1 Cinacalcet
24 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
25 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
26 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
27 Hypophosphatemic Rickets in Norway Unknown status NCT01057186 Sevelamer
28 Calcitonin for Treating X-linked Hypophosphatemia Completed NCT01652573 nasal salmon calcitonin;Saline Nasal Spray Placebo
29 Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Completed NCT02233322
30 Milk Products in the Treatment of Hypophosphatemic Rickets: A Randomised Crossover Trial Completed NCT03348644
31 A Natural History Study of Patients With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Completed NCT03478839
32 Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent Patients Completed NCT01578824
33 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
34 X-linked Hypophosphatemia and Carbohydrate and Lipid Metabolism: a Role for FGF21? Completed NCT03596554
35 Calcitriol Monotherapy for X-Linked Hypophosphatemia: Effects on Mineral Ions, Growth and Skeletal Parameters Recruiting NCT03748966 Early Phase 1 Calcitriol
36 Dental Implants in Patients With X-linked Hypophosphatemia Recruiting NCT03879915
37 Effect of Burosumab and 1-25 (OH) Vitamin D on Human Osteoclasts From Patients With Hypophosphatemic Rickets (HR) Recruiting NCT04184661
38 An International, Multicenter, Prospective, Longitudinal Observational Study for Patient With X-linked Hypophosphatemic Rickets/Osteomalacia Recruiting NCT03745521
39 X-linked Hypophosphatemia Disease Monitoring Program (XLH-DMP) Recruiting NCT03651505
40 Interplay of FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP) Recruiting NCT03489993
41 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
42 An International, Multicentre, Prospective, Non-interventional Observational Registry for Patients With X-linked Hypophosphatemia (XLH) Recruiting NCT03193476
43 Retrospective and Prospective Disease Progression and Quality of Life in X-linked Hypophosphatemia (XLH) Active, not recruiting NCT04049877
44 Expanded Access to Burosumab Available NCT03775187
45 A UK Multicentre, Non-interventional, Observational, Health-Related Quality of Life Study for Children and Adolescents With X-linked Hypophosphataemia Not yet recruiting NCT04819490
46 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) Not yet recruiting NCT04159675
47 Effect of Cinacalcet on the Long-term Treatment of Familial Hypophosphatemic Rickets Withdrawn NCT00844740 Cinacalcet

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:

40
Bone, Kidney, Heart, Cortex, Spinal Cord, Skeletal Muscle, Skin

Publications for Hypophosphatemic Rickets, X-Linked Recessive

Articles related to Hypophosphatemic Rickets, X-Linked Recessive:

(show top 50) (show all 1089)
# Title Authors PMID Year
1
Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets. 61 6 57
7915957 1993
2
A second family with XLRH displays the mutation S244L in the CLCN5 gene. 6 57
9187673 1997
3
A common molecular basis for three inherited kidney stone diseases. 57 6
8559248 1996
4
Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria. 6 54 61
9596078 1998
5
Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms. 57
15558518 2004
6
X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. 57
9452994 1998
7
[Bone and joint diseases in children. Rickets]. 54 61
20513940 2010
8
Preproenkephalin (Penk) is expressed in differentiated osteoblasts, and its deletion in Hyp mice partially rescues their bone mineralization defect. 54 61
20204609 2010
9
Regulation of phosphate transport by fibroblast growth factor 23 (FGF23): implications for disorders of phosphate metabolism. 54 61
19669798 2010
10
[Disorders of phosphate metabolism]. 54 61
20408440 2010
11
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. 61 54
20137773 2010
12
Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. 54 61
20137772 2010
13
Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report. 54 61
20074341 2010
14
MEPE's diverse effects on mineralization. 61 54
19998030 2010
15
Therapeutic effects of anti-FGF23 antibodies in hypophosphatemic rickets/osteomalacia. 61 54
19419316 2009
16
Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/type IIc sodium-phosphate cotransporter: presentation as hypercalciuria and nephrolithiasis. 61 54
19820004 2009
17
The journey from vitamin D-resistant rickets to the regulation of renal phosphate transport. 61 54
19808223 2009
18
Familial hypophosphatemic rickets caused by a large deletion in PHEX gene. 61 54
19581284 2009
19
Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets. 61 54
19513579 2009
20
[Clinical aspect of recent progress in phosphate metabolism. Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23)]. 54 61
19483276 2009
21
PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets. 54 61
19219621 2009
22
Fibroblast growth factor 23 (FGF23) and the kidney. 54 61
19569031 2009
23
X-linked hypophosphatemic rickets and craniosynostosis. 54 61
19242361 2009
24
Dentin noncollagenous matrix proteins in familial hypophosphatemic rickets. 54 61
18701809 2009
25
Fibroblast Growth Factor 23 (FGF23) and Disorders of Phosphate Metabolism. 54 61
19956747 2009
26
[Rickets]. 54 61
19122271 2009
27
A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets. 54 61
19429806 2009
28
Vitamin D receptor genotype in hypophosphatemic rickets as a predictor of growth and response to treatment. 61 54
18827005 2008
29
A case of X-linked hypophosphatemic rickets: complications and the therapeutic use of cinacalcet. 54 61
18775977 2008
30
Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets. 54 61
18625346 2008
31
A patient with hypophosphatemia, a femoral fracture, and recurrent kidney stones: report of a novel mutation in SLC34A3. 54 61
18996815 2008
32
Regulation of phosphate homeostasis by the phosphatonins and other novel mediators. 54 61
18288501 2008
33
Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23) in hypophosphatemic patients: proposal of diagnostic criteria using FGF23 measurement. 54 61
18396126 2008
34
Degradation of MEPE, DMP1, and release of SIBLING ASARM-peptides (minhibins): ASARM-peptide(s) are directly responsible for defective mineralization in HYP. 54 61
18162525 2008
35
Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene. 61 54
18252791 2008
36
A mouse model with postnatal endolymphatic hydrops and hearing loss. 61 54
18289812 2008
37
Generation of a conditional null allele for Dmp1 in mouse. 61 54
18257058 2008
38
A novel Phex mutation with defective glycosylation causes hypophosphatemia and rickets in mice. 54 61
17710565 2008
39
Dentin matrix protein 1 (DMP1): new and important roles for biomineralization and phosphate homeostasis. 54 61
18037646 2007
40
Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets. 61 54
18046499 2007
41
PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets. 54 61
18162710 2007
42
Fibroblast growth factor 23 impairs phosphorus and vitamin D metabolism in vivo and suppresses 25-hydroxyvitamin D-1alpha-hydroxylase expression in vitro. 61 54
17699549 2007
43
[Hypophosphatemic rickets/osteomalacia. - Mainly on patients with PHEX mutations -]. 61 54
17906414 2007
44
Dentin structure in familial hypophosphatemic rickets: benefits of vitamin D and phosphate treatment. 61 54
17714351 2007
45
Hereditary hypophosphatemias: new genes in the bone-kidney axis. 54 61
17635744 2007
46
Regulation of phosphate homeostasis in infants, children, and adolescents, and the role of phosphatonins in this process. 54 61
17630616 2007
47
Emerging role of fibroblast growth factor 23 in a bone-kidney axis regulating systemic phosphate homeostasis and extracellular matrix mineralization. 54 61
17565275 2007
48
[Fibroblast growth factor (FGF) 23 works as a phosphate-regulating hormone and is involved in the pathogenesis of several disorders of phosphate metabolism]. 61 54
17657990 2007
49
Update in osteoporosis and metabolic bone disorders. 61 54
17341572 2007
50
Hypophosphatemic rickets in opsismodysplasia. 54 61
17315533 2007

Variations for Hypophosphatemic Rickets, X-Linked Recessive

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLCN5 NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu) SNV Pathogenic 11802 rs151340626 GRCh37: X:49850644-49850644
GRCh38: X:50085987-50085987
2 CLCN5 Variation Pathogenic 208007 GRCh37:
GRCh38:
3 PTCHD1-AS , PHEX NM_000444.6(PHEX):c.2167_2170dup (p.Phe724Ter) Duplication Pathogenic 374096 rs1057518896 GRCh37: X:22265985-22265986
GRCh38: X:22247868-22247869
4 DMP1 NM_004407.4(DMP1):c.979C>T (p.Gln327Ter) SNV Likely pathogenic 505906 rs899142959 GRCh37: 4:88583909-88583909
GRCh38: 4:87662757-87662757
5 CLCN5 NM_001127898.4(CLCN5):c.941C>A (p.Ser314Ter) SNV Likely pathogenic 1029478 GRCh37: X:49850644-49850644
GRCh38: X:50085987-50085987
6 CLCN5 NM_001127898.4(CLCN5):c.152G>A (p.Arg51Gln) SNV Uncertain significance 1049202 GRCh37: X:49807060-49807060
GRCh38: X:50042451-50042451
7 CLCN5 NM_001127898.4(CLCN5):c.1466C>T (p.Pro489Leu) SNV Uncertain significance 585284 rs782602018 GRCh37: X:49851436-49851436
GRCh38: X:50086779-50086779

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

72
# Symbol AA change Variation ID SNP ID
1 CLCN5 p.Ser314Leu 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 11.27 VDR SLC34A3 SLC34A1
2 11.13 VDR SLC34A3 SLC34A1 FGF23 CYP27B1 CYP24A1
3 11.09 VDR CYP27B1 CYP24A1
4 10.88 VDR CYP27B1 CYP24A1
5 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 9.86 SLC34A1 MEPE FGF23 DMP1
2 skeletal system development GO:0001501 9.83 VDR PHEX MEPE DSPP
3 ossification GO:0001503 9.77 SLC34A1 DSPP DMP1
4 regulation of bone mineralization GO:0030500 9.63 FGF23 ENPP1 CYP27B1
5 decidualization GO:0046697 9.62 VDR CYP27B1
6 phosphate-containing compound metabolic process GO:0006796 9.62 FGF23 ENPP1
7 positive regulation of keratinocyte differentiation GO:0045618 9.61 VDR CYP27B1
8 negative regulation of bone mineralization GO:0030502 9.61 FGF23 ENPP1
9 response to vitamin D GO:0033280 9.61 PHEX CYP27B1 CYP24A1
10 response to growth hormone GO:0060416 9.6 SLC34A1 PHEX
11 cellular response to vitamin D GO:0071305 9.58 PHEX FGF23
12 response to magnesium ion GO:0032026 9.58 SLC34A1 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 9.55 CYP27B1 CYP24A1
16 dentinogenesis GO:0097187 9.54 SLC34A1 DSPP
17 phosphate ion homeostasis GO:0055062 9.54 SLC34A1 SFRP4 FGF23
18 response to sodium phosphate GO:1904383 9.51 PHEX FGF23
19 vitamin D catabolic process GO:0042369 9.5 FGF23 CYP27B1 CYP24A1
20 vitamin D receptor signaling pathway GO:0070561 9.49 VDR CYP24A1
21 sodium-dependent phosphate transport GO:0044341 9.48 SLC34A3 SLC34A1
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 cellular phosphate ion homeostasis GO:0030643 9.26 SLC34A3 SLC34A1 FGF23 ENPP1
25 biomineral tissue development GO:0031214 9.02 PHEX MEPE ENPP1 DSPP DMP1

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 8.62 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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