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MCID: HYP798
MIFTS: 60

Hypophosphatemic Rickets, X-Linked Recessive

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Bone diseases, Endocrine diseases, Fetal 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 57 75 29 6
Hypophosphatemic Rickets 57 76 53 37 29 13 6 73
Rickets, Hypophosphatemic, X-Linked Recessive 40
Hypophosphatemic Rickets Disorders 29
Familial Hypophosphatemic Rickets 73
Rickets Hypophosphatemic 55
Xlrhr 75

Characteristics:

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:
Onset and clinical course phenotypic variability
Inheritance x-linked recessive inheritance


Classifications:

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


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Summaries for Hypophosphatemic Rickets, X-Linked Recessive

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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. Most commonly it is due to the PHEX gene and inherited in an X-linked dominant manner. 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, autosomal 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 Ergocalciferol and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and cortex, and related phenotypes are proximal tubulopathy and renal phosphate wasting

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)

UniProtKB/Swiss-Prot : 75 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 : 76 X-linked hypophosphatemia (XLH), also called X-linked dominant hypophosphatemic rickets, X-linked... 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 all 50)
# Related Disease Score Top Affiliating Genes
1 hereditary hypophosphatemic rickets 34.7 SLC34A1 SLC34A3
2 hypophosphatemic rickets, autosomal dominant 33.1 FGF23 MEPE PHEX SFRP4 SLC34A3
3 autosomal recessive hypophosphatemic rickets 32.6 DMP1 ENPP1 FGF23 PHEX
4 hypophosphatemic rickets, x-linked dominant 31.2 CYP27B1 DMP1 FGF23 PHEX SFRP4 SLC34A1
5 hypophosphatemic rickets with hypercalciuria, hereditary 29.6 CYP27B1 DMP1 ENPP1 FGF23 MEPE PHEX
6 hypophosphatemic rickets, autosomal recessive, 2 12.5
7 hypophosphatemic rickets, autosomal recessive, 1 12.5
8 hypophosphatemic rickets and hyperparathyroidism 12.4
9 dent disease 1 11.5
10 opsismodysplasia 10.6 FGF23 PHEX
11 familial tumoral calcinosis 10.6 FGF23 PHEX
12 raine syndrome 10.5 DMP1 FGF23
13 calciphylaxis 10.4 FGF23 VDR
14 fanconi syndrome 10.4 CLCN5 SLC34A1
15 idiopathic infantile hypercalcemia 10.3 CYP24A1 SLC34A1
16 pulmonary alveolar microlithiasis 10.3 FGF23 SLC34A1 SLC34A3
17 enthesopathy 10.3 DMP1 FGF23 PHEX
18 nephrolithiasis 10.3 CLCN5 SLC34A1 SLC34A3
19 parathyroid gland disease 10.3 FGF23 VDR
20 vitamin d-dependent rickets, type 2a 10.3 CYP27B1 VDR
21 hypercalciuria, absorptive, 2 10.3 CLCN5 SLC34A3 VDR
22 idiopathic hypercalciuria 10.2 CLCN5 SLC34A3 VDR
23 nephrolithiasis, calcium oxalate 10.2 CLCN5 SLC34A1 VDR
24 dentinogenesis imperfecta 1 10.1 DMP1 DSPP
25 aminoaciduria 10.1 CLCN5 SLC34A1
26 dentin dysplasia, type ii 10.1 DMP1 DSPP
27 hypercalcemia, infantile, 1 10.1 CYP24A1 VDR
28 renal osteodystrophy 10.1 FGF23 VDR
29 nephrocalcinosis 10.1 CLCN5 CYP24A1 SLC34A1
30 hypervitaminosis d 10.1 CYP27B1 FGF23 VDR
31 secondary hyperparathyroidism of renal origin 10.0 CYP27B1 FGF23 VDR
32 bone disease 10.0 FGF23 SLC34A3 VDR
33 dentin dysplasia 10.0 DMP1 DSPP
34 hyperphosphatemia 9.9 FGF23 PHEX SLC34A1 VDR
35 chronic kidney failure 9.9 CYP27B1 FGF23 VDR
36 dentinogenesis imperfecta 9.8 DMP1 DSPP
37 arterial calcification of infancy 9.8 ENPP1 FGF23 PHEX
38 bone remodeling disease 9.7 CYP27B1 FGF23 PHEX VDR
39 calcinosis 9.7 ENPP1 FGF23 PHEX
40 hyperparathyroidism 9.7 CYP27B1 FGF23 PHEX VDR
41 osteogenesis imperfecta, type vi 9.6 MEPE PHEX
42 hypercementosis 9.5 DSPP ENPP1
43 hypophosphatasia 9.4 DSPP ENPP1 PHEX
44 oncogenic osteomalacia 9.3 DMP1 FGF23 MEPE PHEX SFRP4
45 mineral metabolism disease 9.0 CLCN5 CYP24A1 FGF23 PHEX SLC34A3 VDR
46 osteomalacia 8.8 CYP24A1 DMP1 FGF23 PHEX SFRP4 VDR
47 phosphorus metabolism disease 8.6 CYP27B1 DMP1 FGF23 PHEX SLC34A1 SLC34A3
48 osteoporosis 8.4 CYP24A1 CYP27B1 FGF23 MEPE SLC34A1 VDR
49 rickets 7.3 CLCN5 CYP27B1 DMP1 ENPP1 FGF23 PHEX
50 hypophosphatemia 7.2 CLCN5 DMP1 DSPP ENPP1 FGF23 PHEX

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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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

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

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

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 SLC34A1 SLC34A3 VDR CLCN5 CYP24A1 CYP27B1
3 immune system MP:0005387 9.86 PHEX SFRP4 VDR CYP27B1 DMP1 ENPP1
4 craniofacial MP:0005382 9.8 CLCN5 CYP27B1 DMP1 PHEX VDR
5 renal/urinary system MP:0005367 9.7 CLCN5 CYP24A1 CYP27B1 DMP1 ENPP1 FGF23
6 limbs/digits/tail MP:0005371 9.63 CYP27B1 DMP1 FGF23 PHEX SFRP4 VDR
7 skeleton MP:0005390 9.4 CYP27B1 DMP1 ENPP1 FGF23 MEPE PHEX
Sources

Drugs & Therapeutics for Hypophosphatemic Rickets, X-Linked Recessive

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

(show all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ergocalciferol Approved, Nutraceutical Phase 3,Not Applicable 50-14-6 5280793
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3,Not Applicable 1406-16-2
3 Hormone Antagonists Phase 3,Phase 1,Phase 2,Not Applicable
4 Hormones Phase 3,Phase 1,Phase 2,Not Applicable
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1,Phase 2,Not Applicable
6 Mitogens Phase 3,Phase 2,Phase 1
7 Bone Density Conservation Agents Phase 3,Not Applicable
8 Ergocalciferols Phase 3,Not Applicable
9 Micronutrients Phase 3,Not Applicable
10 Trace Elements Phase 3,Not Applicable
11 Vitamins Phase 3,Not Applicable
12 Antibodies Phase 3,Phase 2
13 Antibodies, Monoclonal Phase 3,Phase 2
14 Immunoglobulin G Phase 3,Phase 2
15 Immunoglobulins Phase 3,Phase 2
16 Calciferol Nutraceutical Phase 3,Not Applicable
17 Vitamin D2 Nutraceutical Phase 3,Not Applicable
18 Calcimimetic Agents Phase 1,Not Applicable
19 Cinacalcet Hydrochloride Phase 1,Not Applicable
20
Salmon Calcitonin Approved, Investigational Not Applicable 47931-85-1 16129616
21
Iron Approved Not Applicable 7439-89-6 23925
22
Teriparatide Approved, Investigational 52232-67-4 16133850
23
Sevelamer Approved 52757-95-6
24
Calcitriol Approved, Nutraceutical Not Applicable 32222-06-3 134070 5280453
25
Alfacalcidol Approved, Nutraceutical 41294-56-8 5282181
26
Calcitonin gene-related peptide Investigational Not Applicable 83652-28-2
27 Autonomic Agents Not Applicable
28 Cholinergic Agents Not Applicable
29 Methacholine Chloride Not Applicable
30 Neurotransmitter Agents Not Applicable
31 Peripheral Nervous System Agents Not Applicable
32 Respiratory System Agents Not Applicable
33 calcitonin Not Applicable
34 Vasodilator Agents Not Applicable
35 Ferrous gluconate Not Applicable
36 Hematinics Not Applicable
37 Calcium, Dietary
38 glucocorticoids
39 Chelating Agents
40 Hydroxycholecalciferols
41 Iron Supplement Nutraceutical Not Applicable

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 Therapeutic Use of Oral Sodium Phosphate (Z-521) in Primary Hypophosphatemic Rickets Completed NCT01237288 Phase 3 Z-521
2 Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets Completed NCT00417612 Phase 3 Paricalcitol
3 A Study of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Active, not recruiting NCT03233126 Phase 3 KRN23
4 Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02537431 Phase 3
5 Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02526160 Phase 3
6 Efficacy and Safety of 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
7 Growth Hormone Treatment in Children With Hypophosphatemic Rickets Completed NCT02720770 Phase 1, Phase 2 norditropine simplex
8 An Extension Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01571596 Phase 1, Phase 2 KRN23
9 A Repeated Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01340482 Phase 1, Phase 2 KRN23
10 Study of KRN23, a Recombinant Fully Human Monoclonal Antibody Against Fibroblast Growth Factor 23 (FGF23), in Pediatric Subjects With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02163577 Phase 2
11 Long-Term Extension Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH) Active, not recruiting NCT02312687 Phase 2
12 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
13 Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic Rickets Unknown status NCT00195936 Phase 1 Cinacalcet
14 Effects of GH on Body Proportions and Final Height in X-Linked Hypophosphatemic Rickets Unknown status NCT00473187 Phase 1 somatropin
15 A Study of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/Osteomalacia Completed NCT02181764 Phase 1 KRN23
16 A Study of KRN23 in X-linked Hypophosphatemia Completed NCT00830674 Phase 1 Placebo;KRN23
17 Cinacalcet for Fibroblast Growth Factor 23 (FGF23)-Mediated Hypophosphatemia (Hypophosphatemic Rickets) Terminated NCT01748812 Phase 1 Osteomalacia
18 Calcimimetics in Hypophosphatemic Rickets Unknown status NCT00844740 Not Applicable Cinacalcet
19 The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone Formers Unknown status NCT01526304
20 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Unknown status NCT01660308
21 Milk Products in the Treatment of Hypophosphatemic Rickets Completed NCT03348644 Not Applicable
22 Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent Patients Completed NCT01578824 Not Applicable
23 Calcitonin for Treating X-linked Hypophosphatemia Completed NCT01652573 Not Applicable nasal salmon calcitonin;Saline Nasal Spray Placebo
24 Serum FGF-23 and Vitamin D Deficiency Completed NCT01102751
25 Magnesium Treatment on Vitamin D Metabolism in Participants Completed Personalized Prevention of Colorectal Cancer Trial Completed NCT03265483 Not Applicable
26 Effect of Vitamin D3 Supplementation in Children From 12 to 30 Months of Age. Completed NCT03544671 Not Applicable
27 Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Project. Recruiting NCT02233322 Not Applicable
28 Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Recruiting NCT03478839
29 Study of the Diagnostic Value of Stable Calcium Isotope Profiling in Bone and Calcium Disorders Recruiting NCT02252679
30 Hypophosphatemic Rickets in Norway Active, not recruiting NCT01057186 Sevelamer
31 Registry for Patients With X-linked Hypophosphatemia Not yet recruiting NCT03193476
32 FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP) Not yet recruiting NCT03489993

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 29 CLCN5
2 Hypophosphatemic Rickets Disorders 29
3 Hypophosphatemic Rickets 29
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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:

41
Bone, Kidney, Cortex, Testes, Heart, Spinal Cord, Skeletal Muscle
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 269)
# Title Authors Year
1
Craniosynostosis as the Presenting Feature of X-linked Hypophosphatemic Rickets. ( 29610183 )
2018
2
HYPOPHOSPHATEMIC RICKETS: CASE REPORT. ( 29617471 )
2018
3
Genetic analysis of three families with X-linked dominant hypophosphatemic rickets. ( 29858904 )
2018
4
Targeted resequencing of phosphorus metabolisma89related genes in 86 patients with hypophosphatemic rickets/osteomalacia. ( 29901142 )
2018
5
SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria and Review of Reported Cases. ( 29809158 )
2018
6
Effects of growth hormone treatment on adult height in severely short children with X-linked hypophosphatemic rickets. ( 29058153 )
2018
7
Two novel variants of the PHEX gene in patients with Xa89linked dominant hypophosphatemic rickets and prenatal diagnosis for fetuses in these families. ( 29393334 )
2018
8
[Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases]. ( 28506344 )
2017
9
It is not always child abuse: multiple fractures due to hypophosphatemic rickets associated with elemental formula use. ( 28781857 )
2017
10
A pediatric hypophosphatemic rickets on MRI, (99m)Tc-MDP bone scan and (18)F-FDG PET/CT. ( 28315917 )
2017
11
X-linked hypophosphatemic rickets (PHEX mutation): A case report and literature review. ( 29213174 )
2017
12
Inhibition of FGFR Signaling Partially Rescues Hypophosphatemic Rickets in HMWFGF2 Tg Male Mice. ( 28938491 )
2017
13
Magnetic Resonance Imaging Features as Surrogate Markers of X-Linked Hypophosphatemic Rickets Activity. ( 28376474 )
2017
14
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
15
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
16
Spontaneous Growth and Effect of Early Therapy with Calcitriol and Phosphate in X-linked Hypophosphatemic Rickets. ( 29292875 )
2017
17
Outcomes of orthopedic surgery in a cohort of 49 patients with X-linked hypophosphatemic rickets (XLHR). ( 28954742 )
2017
18
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
19
Dentoalveolar Abscesses Not Associated with Caries or Trauma: A Diagnostic Hallmark of Hypophosphatemic Rickets Initially Misdiagnosed as Hypochondroplasia. ( 29190002 )
2017
20
Genetic Knockout and Rescue Studies in Mice Unravel Abnormal Phosphorus Threshold in Hypophosphatemic Rickets. ( 28430915 )
2017
21
[Mutational analysis and prenatal diagnosis in a family affected with hypophosphatemic rickets]. ( 28981921 )
2017
22
Fanconi-Bickel Syndrome: Two Pakistani Patients Presenting with Hypophosphatemic Rickets. ( 27617158 )
2016
23
Atraumatic diplaced bilateral femoral neck fracture in a patient with hypophosphatemic rickets in postpartum period: A missed diagnosis. ( 27771603 )
2016
24
Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c. ( 27939817 )
2016
25
Hypophosphatemic Rickets and Pre-eruptive Spontaneous Dental Abscess. ( 27098722 )
2016
26
Skeletal Muscle, but not Cardiovascular Function, Is Altered in a Mouse Model of Autosomal Recessive Hypophosphatemic Rickets. ( 27242547 )
2016
27
Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets. ( 27840894 )
2016
28
Renal Fanconi Syndrome and Hypophosphatemic Rickets in the Absence of Xenotropic and Polytropic Retroviral Receptor in the Nephron. ( 27799484 )
2016
29
Hypophosphatemic rickets and craniosynostosis: a multicenter case series. ( 26824597 )
2016
30
Patients with FGF23-related hypophosphatemic rickets/osteomalacia do not present with left ventricular hypertrophy. ( 27754732 )
2016
31
Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification. ( 26857895 )
2016
32
Hypophosphatemic Rickets in Siblings: A Rare Case Report. ( 27340574 )
2016
33
[FGF23 related hypophosphatemic rickets:current therapy and unresolved issues]. ( 26813507 )
2016
34
Contemporary Medical and Surgical Management of X-linked Hypophosphatemic Rickets. ( 26040953 )
2015
35
A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets. ( 25861491 )
2015
36
Genetic Testing Confirmed the Early Diagnosis of X-Linked Hypophosphatemic Rickets in a 7-Month-Old Infant. ( 26904698 )
2015
37
X-linked hypophosphatemic rickets and sagittal craniosynostosis: three patients requiring operative cranial expansion: case series and literature review. ( 26510652 )
2015
38
Bone geometry, volumetric density, microarchitecture, and estimated bone strength assessed by HR-pQCT in adult patients with hypophosphatemic rickets. ( 25042721 )
2015
39
Hypophosphatemic rickets: lessons from disrupted FGF23 control of phosphorus homeostasis. ( 25620749 )
2015
40
Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets. ( 26107949 )
2015
41
Results of deformity correction in children with X-linked hereditary hypophosphatemic rickets by external fixation or combined technique. ( 26150332 )
2015
42
Clinical and molecular heterogeneity in a large series of patients with hypophosphatemic rickets. ( 26051471 )
2015
43
Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets. ( 25839938 )
2015
44
A de novo mosaic mutation of PHEX in a boy with hypophosphatemic rickets. ( 26559751 )
2015
45
Iron Supplementation Associated With Loss of Phenotype in Autosomal Dominant Hypophosphatemic Rickets. ( 26186302 )
2015
46
Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1. ( 25741938 )
2015
47
Identification of a novel PHEX mutation in a Chinese family with X-linked hypophosphatemic rickets using exome sequencing. ( 25060345 )
2015
48
Risk factors affecting the development of nephrocalcinosis, the most common complication of hypophosphatemic rickets. ( 26203600 )
2015
49
Cervical ossification of posterior longitudinal ligament in x-linked hypophosphatemic rickets revealing homogeneously increased vertebral bone density. ( 25705343 )
2015
50
Polyostotic osteolysis and hypophosphatemic rickets with elevated serum fibroblast growth factor 23: A case report. ( 26059403 )
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:

75
# 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 GRCh37 Chromosome X, 22265987: 22265990
5 PHEX NM_000444.5(PHEX): c.2167_2170dupAACT (p.Phe724Terfs) duplication Pathogenic rs1057518896 GRCh38 Chromosome X, 22247870: 22247873
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
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Expression for Hypophosphatemic Rickets, X-Linked Recessive

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

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

# Super pathways Score Top Affiliating Genes
1
Parathyroid hormone synthesis, secretion and action 37
11.13 CYP24A1 CYP27B1 FGF23 SLC34A1 SLC34A3 VDR
2
Transcription_Role of VDR in regulation of genes involved in osteoporosis 22
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 24)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.83 DMP1 FGF23 MEPE SLC34A1
2 skeletal system development GO:0001501 9.78 DSPP MEPE PHEX VDR
3 ossification GO:0001503 9.74 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 phosphate-containing compound metabolic process GO:0006796 9.61 ENPP1 FGF23
7 decidualization GO:0046697 9.61 CYP27B1 VDR
8 response to vitamin D GO:0033280 9.61 CYP24A1 CYP27B1 PHEX
9 positive regulation of keratinocyte differentiation GO:0045618 9.6 CYP27B1 VDR
10 response to growth hormone GO:0060416 9.59 PHEX SLC34A1
11 response to magnesium ion GO:0032026 9.58 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 9.56 SLC34A1 SLC34A3
15 vitamin metabolic process GO:0006766 9.55 CYP24A1 CYP27B1
16 sodium-dependent phosphate transport GO:0044341 9.54 SLC34A1 SLC34A3
17 phosphate ion homeostasis GO:0055062 9.54 FGF23 SFRP4 SLC34A1
18 vitamin D receptor signaling pathway GO:0070561 9.51 CYP24A1 VDR
19 vitamin D catabolic process GO:0042369 9.5 CYP24A1 CYP27B1 FGF23
20 response to sodium phosphate GO:1904383 9.49 FGF23 PHEX
21 vitamin D metabolic process GO:0042359 9.46 CYP24A1 CYP27B1 FGF23 VDR
22 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.43 CYP27B1 FGF23 VDR
23 cellular phosphate ion homeostasis GO:0030643 9.26 ENPP1 FGF23 SLC34A1 SLC34A3
24 biomineral tissue development GO:0031214 9.02 DMP1 DSPP ENPP1 MEPE PHEX

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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