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XLRHR
MCID: HYP798
MIFTS: 61

Hypophosphatemic Rickets, X-Linked Recessive (XLRHR)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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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 58 76 30 6
Hypophosphatemic Rickets 58 77 54 38 30 13 6 74
X-Linked Recessive Hypophosphatemic Rickets 12 38 15
Rickets, Hypophosphatemic, X-Linked Recessive 41
Hypophosphatemic Rickets Disorders 30
Familial Hypophosphatemic Rickets 74
Rickets Hypophosphatemic 56
Xlrhr 76

Characteristics:

OMIM:

58
Inheritance:
x-linked recessive

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


HPO:

33
hypophosphatemic rickets, x-linked recessive:
Inheritance x-linked recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Nephrological diseases Endocrine diseases
See all MalaCards categories (disease lists)


Sources

Summaries for Hypophosphatemic Rickets, X-Linked Recessive

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NIH Rare Diseases : 54 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 Calcium 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 : 58 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)

UniProtKB/Swiss-Prot : 76 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 : 77 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 102)
# Related Disease Score Top Affiliating Genes
1 hereditary hypophosphatemic rickets 34.5 SLC34A1 SLC34A3
2 hypophosphatemic rickets, x-linked dominant 34.0 DMP1 FGF23 PHEX SLC34A1 SLC34A3
3 autosomal recessive hypophosphatemic rickets 33.7 DMP1 ENPP1 FGF23 PHEX
4 hypophosphatemic rickets, autosomal dominant 33.6 FGF23 MEPE PHEX SFRP4 SLC34A3
5 arterial calcification of infancy 32.8 ENPP1 FGF23 PHEX
6 vitamin d-dependent rickets, type 2a 32.5 CYP27B1 PHEX VDR
7 hypophosphatemic rickets with hypercalciuria, hereditary 32.3 CYP27B1 DMP1 ENPP1 FGF23 MEPE PHEX
8 hyperparathyroidism 31.1 CYP27B1 FGF23 PHEX VDR
9 fanconi syndrome 30.7 CLCN5 SLC34A1
10 rickets 30.6 CLCN5 CYP27B1 DMP1 ENPP1 FGF23 PHEX
11 opsismodysplasia 30.5 FGF23 PHEX
12 idiopathic hypercalciuria 30.3 CLCN5 SLC34A3 VDR
13 osteomalacia 30.3 CYP24A1 DMP1 FGF23 PHEX SFRP4 VDR
14 nephrocalcinosis 30.3 CLCN5 CYP24A1 PHEX SLC34A1 SLC34A3
15 enthesopathy 30.3 DMP1 FGF23 PHEX
16 bone disease 30.1 FGF23 SLC34A3 VDR
17 aminoaciduria 30.0 CLCN5 SLC34A1
18 nephrolithiasis 29.8 CLCN5 CYP24A1 FGF23 SLC34A1 SLC34A3 VDR
19 osteoporosis 29.3 CYP27B1 FGF23 MEPE SLC34A1 VDR
20 hypophosphatemia 28.5 CLCN5 DMP1 DSPP ENPP1 FGF23 PHEX
21 hypophosphatemic rickets, autosomal recessive, 2 12.8
22 hypophosphatemic rickets, autosomal recessive, 1 12.7
23 hypophosphatemic rickets and hyperparathyroidism 12.6
24 dent disease 1 11.7
25 fanconi renotubular syndrome 1 11.3
26 tumoral calcinosis, hyperphosphatemic, familial, 1 11.3
27 tyrosinemia, type i 11.3
28 ossification of the posterior longitudinal ligament of spine 11.3
29 fanconi renotubular syndrome 2 11.3
30 fanconi renotubular syndrome 3 11.3
31 tumoral calcinosis, hyperphosphatemic, familial, 2 11.3
32 tumoral calcinosis, hyperphosphatemic, familial, 3 11.3
33 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.3
34 nevus, epidermal 10.4
35 craniosynostosis 10.4
36 synostosis 10.4
37 mccune-albright syndrome 10.3
38 familial tumoral calcinosis 10.3 FGF23 PHEX
39 calciphylaxis 10.2 FGF23 VDR
40 fanconi-bickel syndrome 10.2
41 insulin-like growth factor i 10.2
42 secondary hyperparathyroidism 10.2
43 hyperthyroidism 10.2
44 raine syndrome 10.2 DMP1 FGF23
45 hypercalciuria, absorptive, 2 10.2 CLCN5 SLC34A3 VDR
46 hypervitaminosis d 10.2 CYP27B1 FGF23 VDR
47 pulmonary alveolar microlithiasis 10.1 FGF23 SLC34A1 SLC34A3
48 bone remodeling disease 10.1 FGF23 PHEX VDR
49 secondary hyperparathyroidism of renal origin 10.1 CYP27B1 FGF23 VDR
50 idiopathic infantile hypercalcemia 10.1 CYP24A1 SLC34A1

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:

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

Symptoms via clinical synopsis from OMIM:

58
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:

47
# 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
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 top 50) (show all 74)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcitriol Approved, Nutraceutical Phase 4,Not Applicable,Early Phase 1 32222-06-3 5280453 134070
2
Calcium Approved, Nutraceutical Phase 4,Phase 3,Phase 1,Not Applicable,Early Phase 1 7440-70-2 271
3
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Not Applicable,Early Phase 1 1406-16-2
4 Vitamins Phase 4,Phase 3,Not Applicable,Early Phase 1
5 Calcium, Dietary Phase 4,Phase 3,Phase 1,Not Applicable,Early Phase 1
6 Trace Elements Phase 4,Phase 3,Not Applicable,Early Phase 1
7 Micronutrients Phase 4,Phase 3,Not Applicable,Early Phase 1
8 Bone Density Conservation Agents Phase 4,Phase 3,Not Applicable,Early Phase 1
9 Nutrients Phase 4,Phase 3,Not Applicable,Early Phase 1
10 Hormones Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
11 Calciferol Phase 4,Phase 3,Not Applicable,Early Phase 1
12 Vasoconstrictor Agents Phase 4,Early Phase 1
13
Parathyroid hormone Approved, Investigational Phase 3,Phase 1 9002-64-6
14
Ergocalciferol Approved, Nutraceutical Phase 3,Not Applicable 50-14-6 5280793
15 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1,Phase 2,Not Applicable
16 Hormone Antagonists Phase 3,Phase 1,Phase 2,Not Applicable
17 Mitogens Phase 3,Phase 2,Phase 1
18 Ergocalciferols Phase 3,Not Applicable
19 Vitamin D2 Phase 3,Not Applicable
20 Pharmaceutical Solutions Phase 3,Phase 2
21 Antibodies, Monoclonal Phase 3,Phase 2
22 Immunologic Factors Phase 3,Phase 2
23 Immunoglobulins Phase 3,Phase 2
24 Antibodies Phase 3,Phase 2
25 Immunoglobulin G Phase 2
26
Cinacalcet Approved Phase 1,Not Applicable 226256-56-0 156419
27 Calcimimetic Agents Phase 1,Not Applicable
28
Sevelamer Approved 52757-95-6
29
Salmon Calcitonin Approved, Investigational Not Applicable 47931-85-1 16129616
30
leucovorin Approved Not Applicable 58-05-9 143 6006
31
Hydroxocobalamin Approved Not Applicable 13422-51-0 15589840 11953898
32
Nicotinamide Approved, Investigational Not Applicable 98-92-0 936
33
Iron Approved, Experimental Not Applicable 7439-89-6, 15438-31-0 27284 23925
34
Ferrous gluconate Approved Not Applicable 299-29-6
35
Angiotensin II Approved, Investigational 11128-99-7, 68521-88-0, 4474-91-3 172198
36
Teriparatide Approved, Investigational 52232-67-4 16133850
37
Alfacalcidol Approved, Nutraceutical 41294-56-8 5282181
38
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
39
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Not Applicable 70-16-6, 59-43-8 1130
40
Vitamin D3 Approved, Nutraceutical Not Applicable 67-97-0 5280795 6221
41
Niacin Approved, Investigational, Nutraceutical Not Applicable 59-67-6 938
42
Vitamin A Approved, Nutraceutical, Vet_approved Not Applicable 68-26-8, 22737-96-8, 11103-57-4 9904001 445354
43
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
44
Calcitonin gene-related peptide Investigational Not Applicable 83652-28-2
45
Cobalamin Experimental Not Applicable 13408-78-1 6857388
46 Hydroxycholecalciferols
47 Chelating Agents
48 Peripheral Nervous System Agents Not Applicable
49 Respiratory System Agents Not Applicable
50 Neurotransmitter Agents Not Applicable

Interventional clinical trials:

(show all 44)
# Name Status NCT ID Phase Drugs
1 Using Different Doses 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 Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets Completed NCT00417612 Phase 3 Paricalcitol
4 Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH) Completed NCT02537431 Phase 3
5 Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH) Completed NCT02526160 Phase 3
6 Study of the Anti-FGF23 Antibody, Burosumab, in Adults With XLH Recruiting NCT03920072 Phase 3 Burosumab
7 Open Label Trial Assessing Safety and Efficacy of Burosumab (KRN23), in a Patient With ENS and Hypophosphatemic Rickets Active, not recruiting NCT03581591 Phase 3
8 A Study of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Active, not recruiting NCT03233126 Phase 3 KRN23
9 Efficacy and Safety of Burosumab (KRN23) Versus Oral Phosphate and Active Vitamin D Treatment in Pediatric Patients With X Linked Hypophosphatemia (XLH) Active, not recruiting NCT02915705 Phase 3 oral phosphate;active vitamin D
10 Growth Hormone Treatment in Children With Hypophosphatemic Rickets Completed NCT02720770 Phase 1, Phase 2 norditropine simplex
11 Study of KRN23 (Burosumab), a Recombinant Fully Human Monoclonal Antibody Against Fibroblast Growth Factor 23 (FGF23), in Pediatric Subjects With X-linked Hypophosphatemia (XLH) Completed NCT02163577 Phase 2
12 Long-Term Extension Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH) Completed NCT02312687 Phase 2
13 An Extension Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01571596 Phase 1, Phase 2 KRN23
14 A Repeated Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01340482 Phase 1, Phase 2 KRN23
15 Study of the Safety, Pharmacodynamics (PD) and Efficacy of KRN23 in Children From 1 to 4 Years Old With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02750618 Phase 2
16 Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic Rickets Unknown status NCT00195936 Phase 1 Cinacalcet
17 Effects of GH on Body Proportions and Final Height in X-Linked Hypophosphatemic Rickets Unknown status NCT00473187 Phase 1 somatropin
18 A Study of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/Osteomalacia Completed NCT02181764 Phase 1 KRN23
19 A Study of KRN23 in X-linked Hypophosphatemia Completed NCT00830674 Phase 1 Placebo;KRN23
20 Cinacalcet for Fibroblast Growth Factor 23 (FGF23)-Mediated Hypophosphatemia (Hypophosphatemic Rickets) Terminated NCT01748812 Phase 1 Osteomalacia
21 Calcimimetics in Hypophosphatemic Rickets Unknown status NCT00844740 Not Applicable Cinacalcet
22 Hypophosphatemic Rickets in Norway Unknown status NCT01057186 Sevelamer
23 The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone Formers Unknown status NCT01526304
24 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Unknown status NCT01660308
25 Milk Products in the Treatment of Hypophosphatemic Rickets Completed NCT03348644 Not Applicable
26 Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent Patients Completed NCT01578824 Not Applicable
27 Calcitonin for Treating X-linked Hypophosphatemia Completed NCT01652573 Not Applicable nasal salmon calcitonin;Saline Nasal Spray Placebo
28 Serum FGF-23 and Vitamin D Deficiency Completed NCT01102751
29 Magnesium Treatment on Vitamin D Metabolism in Participants Completed Personalized Prevention of Colorectal Cancer Trial Completed NCT03265483 Not Applicable
30 Effect of Vitamin D3 Supplementation in Children From 12 to 30 Months of Age. Completed NCT03544671 Not Applicable
31 Study of Longitudinal Observation for Patient With X-linked Hypophosphatemic Rickets/Osteomalacia in Collaboration With Asian Partners Recruiting NCT03745521
32 Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Project. Recruiting NCT02233322 Not Applicable
33 Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Recruiting NCT03478839
34 X-linked Hypophosphatemia Disease Monitoring Program Recruiting NCT03651505
35 Calcitriol Monotherapy for X-Linked Hypophosphatemia Recruiting NCT03748966 Early Phase 1 Calcitriol
36 Natural History of GACI With or Without ARHR2 or PXE Recruiting NCT03758534
37 Registry for Patients With X-linked Hypophosphatemia Recruiting NCT03193476
38 FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP) Recruiting NCT03489993
39 Study of the Diagnostic Value of Stable Calcium Isotope Profiling in Bone and Calcium Disorders Recruiting NCT02252679
40 Individual Patient Compassionate Use of Burosumab Available NCT03775187
41 Dental Implants in Patients With X-linked Hypophosphatemia Not yet recruiting NCT03879915
42 The Impact of Phosphate Metabolism on Healthy Aging Not yet recruiting NCT03771105 Early Phase 1 phosphate
43 X-linked Hypophosphatemia and FGF21 Not yet recruiting NCT03596554
44 Hypocalcemia in Infants and Children Not yet recruiting NCT03685877

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 30 CLCN5
2 Hypophosphatemic Rickets 30
3 Hypophosphatemic Rickets Disorders 30
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Anatomical Context for Hypophosphatemic Rickets, X-Linked Recessive

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

42
Bone, Kidney, Cortex, Breast, Testes, Spinal Cord, Heart
Sources

Publications for Hypophosphatemic Rickets, X-Linked Recessive

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Articles related to Hypophosphatemic Rickets, X-Linked Recessive:

(show top 50) (show all 442)
# Title Authors Year
1
Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy. ( 30109410 )
2019
2
Nephrocalcinosis and Nephrolithiasis in X-Linked Hypophosphatemic Rickets: Diagnostic Imaging and Risk Factors. ( 31065622 )
2019
3
The first Korean case report with scaphocephaly as the initial sign of X-linked hypophosphatemic rickets. ( 30613854 )
2019
4
C-Terminal Fibroblast Growth Factor-23 Levels in Non-Nutritional Hypophosphatemic Rickets. ( 30835073 )
2019
5
Autosomal Dominant Hypophosphatemic Rickets Presenting in a Phenotypically Normal Adult Female. ( 30949368 )
2019
6
Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets. ( 31102713 )
2019
7
High Incidence of Cranial Synostosis and Chiari I Malformation in Children With X-Linked Hypophosphatemic Rickets (XLHR). ( 30352126 )
2019
8
Identification a novel insertion PHEX mutation in a sporadic patient with hypophosphatemic rickets. ( 30406928 )
2019
9
Hypophosphatemic Rickets. ( 30454743 )
2019
10
Craniosynostosis as the Presenting Feature of X-linked Hypophosphatemic Rickets. ( 29610183 )
2018
11
Molecular analysis of enthesopathy in a mouse model of hypophosphatemic rickets. ( 30002128 )
2018
12
SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria ( 29809158 )
2018
13
Dentoalveolar Abscesses Not Associated with Caries or Trauma: A Diagnostic Hallmark of Hypophosphatemic Rickets Initially Misdiagnosed as Hypochondroplasia. ( 29190002 )
2018
14
Targeted resequencing of phosphorus metabolism‑related genes in 86 patients with hypophosphatemic rickets/osteomalacia. ( 29901142 )
2018
15
A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets. ( 30599486 )
2018
16
Effects of growth hormone treatment on adult height in severely short children with X-linked hypophosphatemic rickets. ( 29058153 )
2018
17
Two novel variants of the PHEX gene in patients with X‑linked dominant hypophosphatemic rickets and prenatal diagnosis for fetuses in these families. ( 29393334 )
2018
18
HYPOPHOSPHATEMIC RICKETS: CASE REPORT. ( 29617471 )
2018
19
Genetic analysis of three families with X-linked dominant hypophosphatemic rickets. ( 29858904 )
2018
20
The frequency of clinical manifestations of hypophosphatemic rickets in patients with therapeutic strategies. ( 30069302 )
2018
21
Hypocalcaemic and hypophosphatemic rickets. ( 30086869 )
2018
22
[Analysis of PHEX gene mutations in three pedigrees affected with hypophosphatemic rickets]. ( 30298486 )
2018
23
Renal Fanconi Syndrome and Hypophosphatemic Rickets in the Absence of Xenotropic and Polytropic Retroviral Receptor in the Nephron. ( 27799484 )
2017
24
Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c. ( 27939817 )
2017
25
Patients with FGF23-related hypophosphatemic rickets/osteomalacia do not present with left ventricular hypertrophy. ( 27754732 )
2017
26
Evaluation of bone mineral density and microarchitectural parameters by DXA and HR-pQCT in 37 children and adults with X-linked hypophosphatemic rickets. ( 28194480 )
2017
27
A pediatric hypophosphatemic rickets on MRI, 99mTc-MDP bone scan and 18F-FDG PET/CT. ( 28315917 )
2017
28
Magnetic Resonance Imaging Features as Surrogate Markers of X-Linked Hypophosphatemic Rickets Activity. ( 28376474 )
2017
29
Genetic Knockout and Rescue Studies in Mice Unravel Abnormal Phosphorus Threshold in Hypophosphatemic Rickets. ( 28430915 )
2017
30
It is not always child abuse: multiple fractures due to hypophosphatemic rickets associated with elemental formula use. ( 28781857 )
2017
31
Two-year recombinant human growth hormone (rhGH) treatment is more effective in pre-pubertal compared to pubertal short children with X-linked hypophosphatemic rickets (XLHR). ( 28822957 )
2017
32
Inhibition of FGFR Signaling Partially Rescues Hypophosphatemic Rickets in HMWFGF2 Tg Male Mice. ( 28938491 )
2017
33
Outcomes of orthopedic surgery in a cohort of 49 patients with X-linked hypophosphatemic rickets (XLHR). ( 28954742 )
2017
34
X-linked hypophosphatemic rickets (PHEX mutation): A case report and literature review. ( 29213174 )
2017
35
X-linked Hypophosphatemic Rickets, del(2)(q37.1;q37.3) Deletion Syndrome and Mosaic Turner Syndrome, mos 45,X/46,X, del(2)(q37.1;q37.3) in a 3-year-old Female. ( 29259966 )
2017
36
Spontaneous Growth and Effect of Early Therapy with Calcitriol and Phosphate in X-linked Hypophosphatemic Rickets. ( 29292875 )
2017
37
Burosumab: A new drug to treat hypophosphatemic rickets. ( 29545670 )
2017
38
[Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases]. ( 28506344 )
2017
39
[Mutational analysis and prenatal diagnosis in a family affected with hypophosphatemic rickets]. ( 28981921 )
2017
40
Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification. ( 26857895 )
2016
41
Skeletal Muscle, but not Cardiovascular Function, Is Altered in a Mouse Model of Autosomal Recessive Hypophosphatemic Rickets. ( 27242547 )
2016
42
X-linked hypophosphatemic rickets and sagittal craniosynostosis: three patients requiring operative cranial expansion: case series and literature review. ( 26510652 )
2016
43
Hypophosphatemic rickets and craniosynostosis: a multicenter case series. ( 26824597 )
2016
44
Hypophosphatemic Rickets and Pre-eruptive Spontaneous Dental Abscess. ( 27098722 )
2016
45
Fanconi-Bickel Syndrome: Two Pakistani Patients Presenting with Hypophosphatemic Rickets. ( 27617158 )
2016
46
Atraumatic diplaced bilateral femoral neck fracture in a patient with hypophosphatemic rickets in postpartum period: A missed diagnosis. ( 27771603 )
2016
47
Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets. ( 27840894 )
2016
48
A de novo mosaic mutation of PHEX in a boy with hypophosphatemic rickets. ( 26559751 )
2016
49
Hypophosphatemic Rickets in Siblings: A Rare Case Report. ( 27340574 )
2016
50
Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1. ( 25741938 )
2015
Sources

Variations for Hypophosphatemic Rickets, X-Linked Recessive

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

76
# Symbol AA change Variation ID SNP ID
1 CLCN5 p.Ser244Leu VAR_001618 rs151340626

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CLCN5 NM_000084.4(CLCN5): c.731C> T (p.Ser244Leu) single nucleotide variant Likely pathogenic rs151340626 GRCh37 Chromosome X, 49850644: 49850644
2 CLCN5 NM_000084.4(CLCN5): c.731C> T (p.Ser244Leu) single nucleotide variant Likely pathogenic rs151340626 GRCh38 Chromosome X, 50085987: 50085987
3 CLCN5 undetermined variant Pathogenic
4 PHEX NM_000444.5(PHEX): c.2167_2170dupAACT (p.Phe724Terfs) duplication Pathogenic rs1057518896 GRCh38 Chromosome X, 22247870: 22247873
5 PHEX NM_000444.5(PHEX): c.2167_2170dupAACT (p.Phe724Terfs) duplication Pathogenic rs1057518896 GRCh37 Chromosome X, 22265987: 22265990
6 DMP1 NM_004407.3(DMP1): c.979C> T (p.Gln327Ter) single nucleotide variant Likely pathogenic rs899142959 GRCh38 Chromosome 4, 87662757: 87662757
7 DMP1 NM_004407.3(DMP1): c.979C> T (p.Gln327Ter) single nucleotide variant Likely pathogenic rs899142959 GRCh37 Chromosome 4, 88583909: 88583909
8 CLCN5 NM_000084.4(CLCN5): c.1256C> T (p.Pro419Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 50086779: 50086779
9 CLCN5 NM_000084.4(CLCN5): c.1256C> T (p.Pro419Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 49851436: 49851436
Sources

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
Parathyroid hormone synthesis, secretion and action 38
11.13 CYP24A1 CYP27B1 FGF23 SLC34A1 SLC34A3 VDR
2
Transcription_Role of VDR in regulation of genes involved in osteoporosis 23
11.09 CYP24A1 CYP27B1 VDR
3
Nuclear Receptors in Lipid Metabolism and Toxicity 1
10.88 CYP24A1 CYP27B1 VDR
4
Vitamin D Metabolism 1
10.13 CYP24A1 CYP27B1 VDR
Sources

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 25)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.84 DMP1 FGF23 MEPE SLC34A1
2 skeletal system development GO:0001501 9.78 DSPP MEPE PHEX VDR
3 ossification GO:0001503 9.75 DMP1 DSPP SLC34A1
4 regulation of bone mineralization GO:0030500 9.63 CYP27B1 ENPP1 FGF23
5 bone mineralization GO:0030282 9.62 CYP27B1 PHEX
6 decidualization GO:0046697 9.62 CYP27B1 VDR
7 phosphate-containing compound metabolic process GO:0006796 9.61 ENPP1 FGF23
8 positive regulation of keratinocyte differentiation GO:0045618 9.61 CYP27B1 VDR
9 response to vitamin D GO:0033280 9.61 CYP24A1 CYP27B1 PHEX
10 response to growth hormone GO:0060416 9.6 PHEX SLC34A1
11 response to magnesium ion GO:0032026 9.59 FGF23 SLC34A1
12 cellular response to vitamin D GO:0071305 9.58 FGF23 PHEX
13 cellular response to parathyroid hormone stimulus GO:0071374 9.58 FGF23 PHEX SLC34A1
14 phosphate ion transport GO:0006817 9.57 SLC34A1 SLC34A3
15 vitamin metabolic process GO:0006766 9.56 CYP24A1 CYP27B1
16 sodium-dependent phosphate transport GO:0044341 9.55 SLC34A1 SLC34A3
17 phosphate ion homeostasis GO:0055062 9.54 FGF23 SFRP4 SLC34A1
18 dentinogenesis GO:0097187 9.52 DSPP SLC34A1
19 response to sodium phosphate GO:1904383 9.51 FGF23 PHEX
20 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.5 CYP27B1 FGF23 VDR
21 vitamin D receptor signaling pathway GO:0070561 9.49 CYP24A1 VDR
22 vitamin D metabolic process GO:0042359 9.46 CYP24A1 CYP27B1 FGF23 VDR
23 vitamin D catabolic process GO:0042369 9.43 CYP24A1 CYP27B1 FGF23
24 biomineral tissue development GO:0031214 9.35 DMP1 DSPP ENPP1 MEPE PHEX
25 cellular phosphate ion homeostasis GO:0030643 8.92 ENPP1 FGF23 SLC34A1 SLC34A3

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

Sources for Hypophosphatemic Rickets, X-Linked Recessive

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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