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XLHR
MCID: HYP609
MIFTS: 64

Hypophosphatemic Rickets, X-Linked Dominant (XLHR)

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 Dominant

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

Name: Hypophosphatemic Rickets, X-Linked Dominant 56 52 73 13 71
Vitamin D-Resistant Rickets, X-Linked 56 12 52 71
X-Linked Hypophosphatemia 12 24 52 58
Xlh 56 52 58 73
X-Linked Dominant Hypophosphatemic Rickets 12 36 15
X-Linked Hypophosphatemic Rickets 24 52 58
Xlhr 56 24 73
Hpdr 56 52 73
Hyp 56 74 73
Hypophosphatemic Vitamin D-Resistant Rickets 56 73
Familial Hypophosphatemic Rickets 43 71
Hypophosphatemic Vitamin D-Resistant Rickets; Hpdr 56
Hypophosphatemia, Vitamin D-Resistant Rickets 12
Rickets, Hypophosphatemic, X-Linked Dominant 39
Hypophophatemic Vitamin D-Resistant Rickets 52
Hypophosphatemic Rickets X-Linked Dominant 12
X-Linked Vitamin D-Resistant Rickets 24
Vitamin D-Resistant Rickets X-Linked 73
Rickets, X-Linked Hypophosphatemic 71
Hypophosphatemia, X-Linked; Xlh 56
Vitamin D-Resistant Rickets 71
Hypophosphatemia, X-Linked 56
Hypophophatemia, X-Linked 52
Hypophosphatemia X-Linked 73

Characteristics:

Orphanet epidemiological data:

58
x-linked hypophosphatemia
Inheritance: X-linked dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

56
Miscellaneous:
highly variable phenotype
onset by 1 year of age
in general, men have more severe disease than women
see also autosomal dominant hypophosphatemic rickets

Inheritance:
x-linked dominant


HPO:

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


GeneReviews:

24
Penetrance Despite a wide degree of clinical variability in xlh, penetrance is often said to be 100% by age one year [sabbagh et al 2014]. there is no known difference between penetrance in males and females....

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Nephrological diseases Bone diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare renal diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050445
OMIM 56 307800
OMIM Phenotypic Series 56 PS193100
KEGG 36 H02143
MeSH 43 D053098
ICD10 via Orphanet 33 E83.3
UMLS via Orphanet 72 C0733682 C3536984 C3540852
Orphanet 58 ORPHA89936
MedGen 41 C0733682
UMLS 71 C0733682 C1845168 C2363065 more
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Summaries for Hypophosphatemic Rickets, X-Linked Dominant

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NIH Rare Diseases : 52 X-linked hypophosphatemia (XLH) is an inherited disorder characterized by low levels of phosphate in the blood. Phosphate levels are low because phosphate is abnormally processed in the kidneys, which causes a loss of phosphate in the urine (phosphate wasting) and leads to soft, weak bones (rickets ). XLH is usually diagnosed in childhood. Features include bowed or bent legs, short stature , bone pain, and severe dental pain. XLH is caused by mutations in the PHEX gene on the X chromosome , and inheritance is X-linked dominant . Treatment generally involves supplements of phosphate and high-dose calcitriol (the active form of Vitamin D), and may also include growth hormones , corrective surgery, and dental treatment. The long-term outlook varies depending on severity and whether complications arise. While some adults with XLH may have minimal medical problems, others may experience persistant discomfort or complications.

MalaCards based summary : Hypophosphatemic Rickets, X-Linked Dominant, also known as vitamin d-resistant rickets, x-linked, is related to hereditary hypophosphatemic rickets and vitamin d-dependent rickets, type 2a, and has symptoms including arthralgia and bone pain. An important gene associated with Hypophosphatemic Rickets, X-Linked Dominant is PHEX (Phosphate Regulating Endopeptidase Homolog X-Linked), and among its related pathways/superpathways are Signaling by FGFR2 and Endochondral Ossification. The drugs Calcitriol and Hormones have been mentioned in the context of this disorder. Affiliated tissues include Kidney, bone and spinal cord, and related phenotypes are hypophosphatemia and rickets

Disease Ontology : 12 A rickets has material basis in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization.

OMIM : 56 X-linked dominant hypophosphatemic rickets, although variable in its expressivity, is characterized by rickets with bone deformities, short stature, dental anomalies, and at the biologic level, hypophosphatemia with low renal phosphate reabsorption, normal serum calcium level with hypocalciuria, normal or low serum level of vitamin D (1,25(OH)2D3, or calcitriol), normal serum level of PTH, and increased activity of serum alkaline phosphatases (summary by Gaucher et al., 2009). (307800)

KEGG : 36 X-linked dominant hypophosphatemic rickets (XLH) is the most common form of hereditary rickets. XLH is characterized by a defect in renal phosphate transport, leading to phosphate wasting and hypo-phosphatemia, and by abnormal 1,25-dihydroxy vitamin D. Manifestations of XLH include rickets in children, short stature, and osteomalacia. Mutations in the PHEX gene have been identified as the cause of XlH. PHEX encodes a metalloprotease that is found in the cell-surface membrane of osteoblasts, osteocytes, and odontoblasts.

UniProtKB/Swiss-Prot : 73 Hypophosphatemic rickets, X-linked dominant: A disorder characterized by impaired phosphate uptake in the kidney, which is likely to be caused by abnormal regulation of sodium phosphate cotransport in the proximal tubules. Clinical manifestations include skeletal deformities, growth failure, craniosynostosis, paravertebral calcifications, pseudofractures in lower extremities, and muscular hypotonia with onset in early childhood. X-linked hypophosphatemic rickets is the most common form of hypophosphatemia with an incidence of 1 in 20000.

Wikipedia : 74 X-linked hypophosphatemia (XLH), is an X-linked dominant form of rickets (or osteomalacia) that differs... more...

GeneReviews: NBK83985
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Related Diseases for Hypophosphatemic Rickets, X-Linked Dominant

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

(show top 50) (show all 166)
# Related Disease Score Top Affiliating Genes
1 hereditary hypophosphatemic rickets 32.9 SLC34A3 SLC34A1
2 vitamin d-dependent rickets, type 2a 32.7 PHEX CYP27B1
3 nevus, epidermal 30.5 SLC34A3 PHEX FGF23 ENPP1 DMP1
4 dental pulp necrosis 30.4 MEPE DMP1
5 dent disease 1 29.9 SLC34A3 SLC34A1
6 bone resorption disease 29.8 SPP1 PTH FGF23
7 primary hyperparathyroidism 29.8 PTH KL FGF23 CYP27B1
8 brittle bone disorder 29.7 SPP1 PTH PHEX MEPE
9 bone disease 29.7 SPP1 SLC34A3 PTH PHEX FGF23
10 secondary hyperparathyroidism 29.5 PTH PHEX KL FGF23 CYP27B1
11 hypervitaminosis d 29.5 PTH KL GALNT3 FGF23 CYP27B1
12 hyperostosis 29.5 SPP1 KL GALNT3 FGF23
13 hyperparathyroidism 29.4 PTH PHEX KL FGF23 CYP27B1
14 schimmelpenning-feuerstein-mims syndrome 29.3 SLC34A3 PHEX MEPE GALNT3 FGF23 ENPP1
15 oncogenic osteomalacia 29.1 SFRP4 PTH PHEX MEPE FGF23 DMP1
16 hypophosphatasia 29.0 SPP1 PTH PHEX FGF23 ENPP1
17 enthesopathy 28.9 SLC34A3 PHEX MEPE KL FGF23 ENPP1
18 nephrolithiasis 28.8 SPP1 SLC34A3 SLC34A1 PTH FGF23
19 kidney disease 28.5 SPP1 PTH FGF23 ENPP1 CYP27B1
20 hypophosphatemic rickets, x-linked recessive 28.3 SLC34A3 SLC34A1 SFRP4 PHEX MEPE FGF23
21 dental abscess 28.1 SLC34A3 PTH PHEX MEPE KL GALNT3
22 calcinosis 28.0 SPP1 PHEX MEPE KL GALNT3 FGF23
23 hyperphosphatemia 27.8 SPP1 SLC34A1 SFRP4 PTH PHEX KL
24 hypophosphatemic rickets, autosomal dominant 27.8 SLC34A3 SFRP4 PTH PHEX MEPE KL
25 nephrocalcinosis 27.6 SPP1 SLC34A3 SLC34A1 PTH PHEX FGF23
26 osteomalacia 26.8 SLC34A3 SLC34A1 SFRP4 PTH PHEX MEPE
27 rickets 26.7 SPP1 SLC34A3 SLC34A1 SFRP4 PTH PHEX
28 hypophosphatemia 25.7 SPP1 SLC34A3 SLC34A1 SFRP4 PTH PHEX
29 autosomal recessive hypophosphatemic rickets 25.2 SPP1 SLC34A3 SFRP4 PTH PHEX MEPE
30 helix syndrome 10.6
31 hypertelorism, preauricular sinus, punctal pits, and deafness 10.5
32 hypophosphatemic rickets and hyperparathyroidism 10.4
33 papilledema 10.4
34 intracranial hypertension 10.4
35 opsismodysplasia 10.4 PHEX FGF23
36 osteogenesis imperfecta, type iii 10.3
37 scoliosis 10.3
38 cystinosis 10.3
39 renal osteodystrophy 10.3
40 root resorption 10.3
41 precocious puberty 10.3
42 spitz nevus 10.3
43 osteogenesis imperfecta, type vi 10.3 PHEX MEPE
44 3-methylglutaconic aciduria, type iii 10.2
45 orthostatic intolerance 10.2
46 hypogonadotropic hypogonadism 10.2
47 respiratory failure 10.2
48 allergic hypersensitivity disease 10.2
49 secondary hyperparathyroidism of renal origin 10.2
50 gonadal dysgenesis 10.2

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



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

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

58 31 (show all 36)
# 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 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
4 joint dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001373
5 abnormality of dental enamel 58 31 hallmark (90%) Very frequent (99-80%) HP:0000682
6 osteomalacia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002749
7 genu varum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002970
8 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
9 tooth abscess 58 31 hallmark (90%) Very frequent (99-80%) HP:0030757
10 rachitic rosary 58 31 hallmark (90%) Very frequent (99-80%) HP:0000897
11 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
12 craniosynostosis 58 31 frequent (33%) Frequent (79-30%) HP:0001363
13 osteoarthritis 58 31 frequent (33%) Frequent (79-30%) HP:0002758
14 enthesitis 58 31 frequent (33%) Frequent (79-30%) HP:0100686
15 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
16 recurrent fractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002757
17 bowing of the legs 58 31 Very frequent (99-80%) HP:0002979
18 abnormality of the dentition 58 Very frequent (99-80%)
19 renal tubular dysfunction 31 HP:0000124
20 arthralgia 31 HP:0002829
21 frontal bossing 31 HP:0002007
22 spinal canal stenosis 31 HP:0003416
23 abnormality of pelvic girdle bone morphology 31 HP:0002644
24 femoral bowing 31 HP:0002980
25 tibial bowing 31 HP:0002982
26 spinal cord compression 31 HP:0002176
27 fibular bowing 31 HP:0010502
28 metaphyseal irregularity 31 HP:0003025
29 elevated circulating parathyroid hormone level 31 HP:0003165
30 elevated alkaline phosphatase 31 HP:0003155
31 renal phosphate wasting 31 HP:0000117
32 hypophosphatemic rickets 31 HP:0004912
33 hypomineralization of enamel 31 HP:0006285
34 trapezoidal distal femoral condyles 31 HP:0006432
35 shortening of the talar neck 31 HP:0008117
36 flattening of the talar dome 31 HP:0008144

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Head And Neck Head:
frontal bossing

Skeletal Spine:
spinal cord compression
spinal stenosis

Genitourinary Kidneys:
renal phosphate wasting
decreased tubular maximum for phosphate reabsorption per glomerular filtration rate (tmp/gfr)

Skeletal Feet:
shortening of the talar neck
flattening of the talar dome

Head And Neck Ears:
hearing loss has been reported in some adults with severe disease

Skeletal Pelvis:
flaring of the iliac wings

Laboratory Abnormalities:
hypophosphatemia
normal serum calcium
increased serum alkaline phosphatase
normal to mildly increased serum parathyroid hormone (pth)
inappropriately normal to low-normal serum 1,25-dihydroxyvitamin d3
more
Skeletal:
bone pain
joint pain
rickets in children
osteomalacia in adults
osteoarthritis, more common in adults
more
Skeletal Limbs:
bowing of the legs
trapezoidal distal femoral condyles
frayed, irregular metaphyses
lower limb deformities
curvatures of the femur, tibia, fibula
more
Head And Neck Teeth:
hypomineralization of enamel
recurrent dental abscesses
defect in dentin maturation
enlarged pulp chambers

Growth Other:
growth retardation

Skeletal Skull:
increased anteroposterior skull length

Clinical features from OMIM:

307800

UMLS symptoms related to Hypophosphatemic Rickets, X-Linked Dominant:


arthralgia, bone pain

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

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.25 CYP27B1 DMP1 ENPP1 FAM20C FGF23 GALNT3
2 cardiovascular system MP:0005385 10.18 DMP1 ENPP1 FGF23 GALNT3 KL PHEX
3 hematopoietic system MP:0005397 10.18 CYP27B1 DMP1 EMP1 FAM20C FGF23 GALNT3
4 cellular MP:0005384 10.16 CYP27B1 DMP1 ENPP1 FAM20C GALNT3 KL
5 craniofacial MP:0005382 10.15 CYP27B1 DMP1 ENPP1 FAM20C GALNT3 KL
6 homeostasis/metabolism MP:0005376 10.15 CYP27B1 DMP1 ENPP1 FAM20C FGF23 GALNT3
7 immune system MP:0005387 10.1 CYP27B1 DMP1 ENPP1 FAM20C FGF23 GALNT3
8 endocrine/exocrine gland MP:0005379 10.06 CYP27B1 DMP1 FAM20C FGF23 GALNT3 KL
9 digestive/alimentary MP:0005381 10.02 FAM20C FGF23 GALNT3 KL PHEX SFRP4
10 limbs/digits/tail MP:0005371 9.96 CYP27B1 DMP1 ENPP1 FAM20C FGF23 GALNT3
11 renal/urinary system MP:0005367 9.93 CYP27B1 DMP1 ENPP1 FAM20C FGF23 GALNT3
12 reproductive system MP:0005389 9.61 CYP27B1 DMP1 FAM20C FGF23 GALNT3 KL
13 skeleton MP:0005390 9.47 CYP27B1 DMP1 ENPP1 FAM20C FGF23 GALNT3
Sources

Drugs & Therapeutics for Hypophosphatemic Rickets, X-Linked Dominant

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

(show top 50) (show all 52)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 5280453 134070
2 Hormones Phase 4
3 Calcium, Dietary Phase 4
4 Micronutrients Phase 4
5 Trace Elements Phase 4
6 Vasoconstrictor Agents Phase 4
7 Nutrients 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
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
16
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 5280795 6221
17 Vitamins Phase 2
18 Calciferol Phase 2
19 Hormone Antagonists Phase 1, Phase 2
20 Pharmaceutical Solutions Phase 2
21
Cinacalcet Approved Phase 1 226256-56-0 156419
22
Sevelamer Approved 52757-95-6
23
Salmon calcitonin Approved, Investigational 47931-85-1 16129616
24
Ferrous gluconate Approved 299-29-6
25
Iron Approved, Experimental 15438-31-0, 7439-89-6 27284 23925
26
Alendronate Approved 66376-36-1, 121268-17-5 2088
27
Risedronate Approved, Investigational 105462-24-6 5245
28
Zoledronic Acid Approved 118072-93-8 68740
29
Etidronic acid Approved 2809-21-4, 7414-83-7 3305
30
Sodium citrate Approved, Investigational 68-04-2
31
Alfacalcidol Approved, Nutraceutical 41294-56-8 5282181
32
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
33
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
34
Calcitonin gene-related peptide Investigational 83652-28-2
35 Chelating Agents
36 Hydroxycholecalciferols
37 Vasodilator Agents
38 calcitonin
39 Katacalcin
40 Respiratory System Agents
41 Cholinergic Agents
42 Muscarinic Agonists
43 Methacholine Chloride
44 Neurotransmitter Agents
45 Hematinics
46 Iron Supplement
47 Ergocalciferols
48 Vitamin D2
49 Diphosphonates
50 Ibandronic Acid

Interventional clinical trials:

(show top 50) (show all 54)
# 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 Not yet recruiting NCT04320316 Phase 4 Crysvita (burosumab-twza) Treatment
5 The Role of Parathyroid Hormone in the Pathogenesis of Skeletal Disease in X-linked Hypophosphatemic Rickets (XLH) Completed NCT00417612 Phase 3 Paricalcitol
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, Single-Arm, Phase 3 Study to Evaluate the Effects of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH) Completed NCT02537431 Phase 3
8 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
9 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
10 Therapeutic Use of Oral Sodium Phosphate (Z-521) in Primary Hypophosphatemic Rickets Completed NCT01237288 Phase 3 Z-521
11 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
12 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
13 A Phase 3 Long-term Extension Study of KRN23 in Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Active, not recruiting NCT04308096 Phase 3 KRN23
14 A Randomized, Open-Label, Dose Finding, Phase 2 Study to Assess the Pharmacodynamics and Safety of the Anti-FGF23 Antibody, KRN23, in Pediatric Patients With X-linked Hypophosphatemia (XLH) Completed NCT02163577 Phase 2
15 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 Prevention of Post-Cardiac Surgery Vitamin D Deficiency in Children With Congenital Heart Disease: A Pilot Dose Evaluation Randomized Controlled Trial Completed NCT01838447 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 Effect of Calcimimetic (Cinacalcet) on Phosphate-Induced Hyperparathyroidism in Children With Hypophosphatemic Rickets Unknown status NCT00195936 Phase 1 Cinacalcet
23 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
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 Effect of Cinacalcet on the Long-Term Treatment of Familial Hypophosphatemic Rickets Unknown status NCT00844740 Cinacalcet
27 Hypophosphatemic Rickets in Norway Unknown status NCT01057186 Sevelamer
28 A Cross-Sectional Study To Investigate The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone Formers Unknown status NCT01526304
29 Calcitonin for Treating X-linked Hypophosphatemia Completed NCT01652573 nasal salmon calcitonin;Saline Nasal Spray Placebo
30 Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent Patients Completed NCT01578824
31 Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Completed NCT02233322
32 Milk Products in the Treatment of Hypophosphatemic Rickets: A Randomised Crossover Trial Completed NCT03348644
33 Effect of Magnesium Treatment on Vitamin D Resistance Completed NCT03265483
34 Effect of Different Vitamin D Preparations on Circulating FGF23 Levels in Vitamin D Deficient Caucasian and African-American Men and Women Completed NCT00957879
35 Studies in Phosphorus Metabolism Completed NCT00066183
36 Whole Exome Sequencing to Identify Genetic Predisposition to Atypical Femoral Fractures in Women Using Bisphosphonates for Osteoporosis Completed NCT02731040 Bisphosphonate
37 X-linked Hypophosphatemia Disease Monitoring Program (XLH-DMP) Recruiting NCT03651505
38 An International, Multicenter, Prospective, Longitudinal Observational Study for Patient With X-linked Hypophosphatemic Rickets/Osteomalacia Recruiting NCT03745521
39 X-linked Hypophosphatemia and Carbohydrate and Lipid Metabolism: a Role for FGF21? Recruiting NCT03596554
40 Calcitriol Monotherapy for X-Linked Hypophosphatemia: Effects on Mineral Ions, Growth and Skeletal Parameters Recruiting NCT03748966 Early Phase 1 Calcitriol
41 Retrospective and Prospective Disease Progression and Quality of Life in X-linked Hypophosphatemia (XLH) Recruiting NCT04049877
42 An International, Multicentre, Prospective, Non-interventional Observational Registry for Patients With X-linked Hypophosphatemia (XLH) Recruiting NCT03193476
43 Interplay of FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP) Recruiting NCT03489993
44 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
45 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 Recruiting NCT04372446
46 The Impact of Phosphate Metabolism on Healthy Aging Recruiting NCT03771105 Early Phase 1 phosphate
47 The Natural History of Generalized Arterial Calcification of Infancy (GACI) With or Without Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) or Pseudoxanthoma Elasticum (PXE) Recruiting NCT03758534
48 A Natural History Study of Patients With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Recruiting NCT03478839
49 An Open Label Trial to Assess the Safety and Efficacy of Burosumab in a Single Patient With Cutaneous Skeletal Hypophosphatemia Syndrome (CSHS) Active, not recruiting NCT03993821 Early Phase 1 Burosumab
50 Expanded Access to Burosumab Available NCT03775187

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

Cochrane evidence based reviews: familial hypophosphatemic rickets

Sources

Genetic Tests for Hypophosphatemic Rickets, X-Linked Dominant

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Sources

Anatomical Context for Hypophosphatemic Rickets, X-Linked Dominant

About this section

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

40
Bone, Kidney, Spinal Cord, Eye, Heart, Bone Marrow, Liver
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Hypophosphatemic Rickets, X-Linked Dominant:
# Tissue Anatomical CompartmentCell Relevance
1 Kidney Proximal Tubule Proximal Tubule Cells Affected by disease, potential therapeutic candidate
Sources

Publications for Hypophosphatemic Rickets, X-Linked Dominant

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Articles related to Hypophosphatemic Rickets, X-Linked Dominant:

(show top 50) (show all 450)
# Title Authors PMID Year
1
Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. 6 56 24
9106524 1997
2
Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene. 6 56
18252791 2008
3
A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets. 56 6
9768646 1998
4
Mutational analysis of PHEX gene in X-linked hypophosphatemia. 61 24 6
9768674 1998
5
A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium. 56 6
7550339 1995
6
X-linked hypophosphatemia in adults: prevalence of skeletal radiographic and scintigraphic features. 56 24 61
2539609 1989
7
Adult-onset vitamin D-resistant hypophosphatemic osteomalacia. A possible variant of vitamin D-resistant rickets. 6 56
188828 1977
8
PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets. 56 24
19219621 2009
9
Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait. 24 6
16303832 2006
10
Calcification of entheses associated with X-linked hypophosphatemic osteomalacia. 24 56
4000222 1985
11
Burosumab Therapy in Children with X-Linked Hypophosphatemia. 61 56
29791829 2018
12
X-Linked Hypophosphatemia 61 6
22319799 2012
13
Calcitonin administration in X-linked hypophosphatemia. 61 56
21524226 2011
14
X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene. 61 6
11502821 2001
15
Pathophysiology of X-linked hypophosphatemia, tumor-induced osteomalacia, and autosomal dominant hypophosphatemia: a perPHEXing problem. 56 61
11157997 2001
16
PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia. 56 61
10874297 2000
17
The effect of recombinant human growth hormone in children with X-linked hypophosphatemia. 56 61
9346990 1997
18
Cardiovascular abnormalities in patients with X-linked hypophosphatemia. 56 61
9253316 1997
19
24,25 Dihydroxyvitamin D supplementation corrects hyperparathyroidism and improves skeletal abnormalities in X-linked hypophosphatemic rickets--a clinical research center study. 61 56
8964881 1996
20
Nocturnal hyperparathyroidism: a frequent feature of X-linked hypophosphatemia. 61 56
8200940 1994
21
X-linked hypophosphatemic rickets: a study (with literature review) of linear growth response to calcitriol and phosphate therapy. 61 56
1414477 1992
22
X-linked hypophosphatemia: an appreciation of a classic paper and a survey of progress since 1958. 61 56
1851532 1991
23
X-linked hypophosphatemia: the mutant gene is expressed in teeth as well as in kidney. 56 61
2155529 1990
24
The effects of Mendelian mutation on renal sulfate and phosphate transport in man and mouse. 56 61
6701031 1984
25
Orthophosphate transport in the erythrocyte of normal subjects and of patients with X-linked hypophosphatemia. 56 61
1117070 1975
26
Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia. 56 61
4340235 1972
27
Loss of a parathyroid hormone-sensitive component of phosphate transport in X-linked hypophosphatemia. 61 56
4333173 1972
28
Effect of four monthly doses of a human monoclonal anti-FGF23 antibody (KRN23) on quality of life in X-linked hypophosphatemia. 24 61
28326356 2016
29
Conventional Therapy in Adults With X-Linked Hypophosphatemia: Effects on Enthesopathy and Dental Disease. 61 24
26176801 2015
30
Prolonged Correction of Serum Phosphorus in Adults With X-Linked Hypophosphatemia Using Monthly Doses of KRN23. 24 61
25919461 2015
31
Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia. 61 24
24569459 2014
32
A clinician's guide to X-linked hypophosphatemia. 24 61
21538511 2011
33
The journey from vitamin D-resistant rickets to the regulation of renal phosphate transport. 56
19808223 2009
34
MEPE-ASARM peptides control extracellular matrix mineralization by binding to hydroxyapatite: an inhibition regulated by PHEX cleavage of ASARM. 61 24
18597632 2008
35
Calcimimetics as an adjuvant treatment for familial hypophosphatemic rickets. 61 24
18256372 2008
36
A clinical and molecular genetic study of hypophosphatemic rickets in children. 56
16055933 2005
37
Hearing impairment in familial X-linked hypophosphatemic rickets. 56
15290264 2004
38
Anthropometric characteristics of X-linked hypophosphatemia. 24 61
15057978 2004
39
Parathyroidectomy for tertiary hyperparathyroidism associated with X-linked dominant hypophosphatemic rickets. 56
14769584 2004
40
Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets. 56
12915641 2003
41
Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. 24 61
12711740 2003
42
X-linked hypophosphatemia in Polish patients. 2. Analysis of clinical features and genotype-phenotype correlation. 61 24
14564066 2001
43
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. 56
11062477 2000
44
Paraplegia due to ossification of ligamenta flava in X-linked hypophosphatemia. A case report. 61 24
9089946 1997
45
Tertiary hyperparathyroidism during high phosphate therapy of familial hypophosphatemic rickets. 56
1464657 1992
46
Normal calcitonin stimulation of serum calcitriol in patients with X-linked hypophosphatemic rickets. 56
1639943 1992
47
Three DNA markers for hypophosphataemic rickets. 56
1353055 1992
48
Effects of therapy in X-linked hypophosphatemic rickets. 56
1660098 1991
49
Rickets, the continuing challenge. 56
1660099 1991
50
Linkage analysis of two cloned DNA sequences, DXS197 and DXS207, in hypophosphatemic rickets families. 56
1979046 1990
Sources

Variations for Hypophosphatemic Rickets, X-Linked Dominant

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

6 (show top 50) (show all 235) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PHEX NC_000023.10:g.(22132705_22151639)_(22151742_22186428)deldeletion Pathogenic 438541 X:22132705-22186428
2 PHEX deletion Pathogenic 438567 X:22114640-22150788
3 PHEX NC_000023.10:g.(22051242_22056586)_(22056656_22065167)deldeletion Pathogenic 438497 X:22051242-22065167 X:22033124-22047049
4 PHEX NC_000023.10:g.(22065330_22094505)_(22095821_22108546)deldeletion Pathogenic 438546 X:22065330-22108546 X:22047212-22090428
5 PHEX NC_000023.10:g.(22094593_22095593)_(22095821_22108546)deldeletion Pathogenic 438496 X:22094593-22108546 X:22076475-22090428
6 PHEX NC_000023.10:g.(22095821_22108546)_(22108616_22112100)deldeletion Pathogenic 438514 X:22095821-22112100 X:22077703-22093982
7 PHEX NC_000023.10:g.(22115157_22117149)_(22117270_22129584)deldeletion Pathogenic 438572 X:22115157-22129584 X:22097039-22111466
8 PHEX NC_000023.10:g.(22117270_22129584)_(22132705_22151639)deldeletion Pathogenic 438565 X:22117270-22151639 X:22099152-22123572
9 PHEX NC_000023.10:g.(22186507_22196389)_(22231076_22237152)deldeletion Pathogenic 438503 X:22186507-22237152 X:22168390-22219035
10 PHEX NC_000023.10:g.(22208620_22231047)_(22266070_?)deldeletion Pathogenic 438529 X:22208620-22266070 X:22190503-22247953
11 PHEX NC_000023.10:g.(22237221_22239729)_(22239861_22244559)deldeletion Pathogenic 438516 X:22237221-22244559 X:22219104-22226442
12 PHEX NC_000023.10:g.(22237221_22239729)_(22266070_?)deldeletion Pathogenic 438547 X:22237221-22266070 X:22219104-22247953
13 PHEX NC_000023.10:g.(22239861_22244559)_(22266070_?)deldeletion Pathogenic 438573 X:22239861-22266070 X:22221744-22247953
14 PHEX NC_000023.10:g.(22245729_22263449)_(22266070_?)deldeletion Pathogenic 438561 X:22245729-22266070 X:22227612-22247953
15 PHEX NC_000023.10:g.(?_22051124)_(22051242_22056586)deldeletion Pathogenic 438512 X:22051124-22056586 X:22033006-22038468
16 PHEX NM_000444.6(PHEX):c.78dup (p.Val27fs)duplication Pathogenic 438526 rs1556010757 X:22051198-22051199 X:22033080-22033081
17 PHEX NM_000444.6(PHEX):c.119-3C>GSNV Pathogenic 438515 rs1556012055 X:22056584-22056584 X:22038466-22038466
18 PHEX NM_000444.6(PHEX):c.142C>T (p.Gln48Ter)SNV Pathogenic 438523 rs202074612 X:22056610-22056610 X:22038492-22038492
19 PHEX NM_000444.6(PHEX):c.181G>T (p.Glu61Ter)SNV Pathogenic 438495 rs770630990 X:22056649-22056649 X:22038531-22038531
20 PHEX NM_000444.6(PHEX):c.187+1G>TSNV Pathogenic 438537 rs1556012100 X:22056656-22056656 X:22038538-22038538
21 PHEX NM_000444.6(PHEX):c.187+1deldeletion Pathogenic 438539 rs1556012094 X:22056654-22056654 X:22038536-22038536
22 PHEX NM_000444.6(PHEX):c.680_681TC[1] (p.Ser228fs)short repeat Pathogenic 419563 rs1064793956 X:22108562-22108563 X:22090444-22090445
23 PHEX NM_000444.6(PHEX):c.118+1G>TSNV Pathogenic 430012 rs1131691731 X:22051242-22051242 X:22033124-22033124
24 PHEX NM_000444.6(PHEX):c.253T>C (p.Cys85Arg)SNV Pathogenic 438549 rs1556014287 X:22065233-22065233 X:22047115-22047115
25 PHEX NM_000444.6(PHEX):c.415T>A (p.Tyr139Asn)SNV Pathogenic 438518 rs1556020460 X:22094571-22094571 X:22076453-22076453
26 PHEX NM_000444.6(PHEX):c.424del (p.Cys142fs)deletion Pathogenic 438533 rs1556020474 X:22094580-22094580 X:22076462-22076462
27 PHEX NM_000444.6(PHEX):c.436+6T>CSNV Pathogenic 438507 rs1556020485 X:22094598-22094598 X:22076480-22076480
28 PHEX NM_000444.6(PHEX):c.467T>C (p.Leu156Pro)SNV Pathogenic 438570 rs1556020752 X:22095624-22095624 X:22077506-22077506
29 PHEX NM_000444.6(PHEX):c.544_545GA[1] (p.Arg183fs)short repeat Pathogenic 438494 rs1556020798 X:22095700-22095703 X:22077582-22077585
30 PHEX NM_000444.6(PHEX):c.621T>G (p.Tyr207Ter)SNV Pathogenic 438536 rs771208171 X:22095778-22095778 X:22077660-22077660
31 PHEX NM_000444.6(PHEX):c.679C>A (p.Leu227Ile)SNV Pathogenic 438556 rs1556023495 X:22108562-22108562 X:22090444-22090444
32 PHEX NM_000444.6(PHEX):c.704del (p.Tyr235fs)deletion Pathogenic 438493 rs1556023503 X:22108587-22108587 X:22090469-22090469
33 PHEX NM_000444.6(PHEX):c.707T>C (p.Leu236Pro)SNV Pathogenic 438555 rs1556023505 X:22108590-22108590 X:22090472-22090472
34 PHEX NM_000444.6(PHEX):c.732+5G>ASNV Pathogenic 438504 rs1556023528 X:22108620-22108620 X:22090502-22090502
35 PHEX NM_000444.6(PHEX):c.732+5G>CSNV Pathogenic 438569 rs1556023528 X:22108620-22108620 X:22090502-22090502
36 PHEX NM_000444.6(PHEX):c.832G>T (p.Glu278Ter)SNV Pathogenic 438488 rs1556024541 X:22112200-22112200 X:22094082-22094082
37 PHEX NM_000444.6(PHEX):c.933+1G>TSNV Pathogenic 438489 rs1556025314 X:22115157-22115157 X:22097039-22097039
38 PHEX NM_000444.6(PHEX):c.934-3_934-1delinsTCAindel Pathogenic 438552 rs1556025936 X:22117121-22117123 X:22099003-22099005
39 PHEX NM_000444.6(PHEX):c.955_957AAG[1] (p.Lys320del)short repeat Pathogenic 438490 rs1556025968 X:22117145-22117147 X:22099027-22099029
40 PHEX NM_000444.6(PHEX):c.1022T>A (p.Val341Asp)SNV Pathogenic 438577 rs1556026027 X:22117212-22117212 X:22099094-22099094
41 PHEX NM_000444.6(PHEX):c.1044del (p.Asp349fs)deletion Pathogenic 438508 rs1556026042 X:22117232-22117232 X:22099114-22099114
42 PHEX NM_000444.6(PHEX):c.1483-2A>GSNV Pathogenic 438540 rs1556070724 X:22196388-22196388 X:22178271-22178271
43 PHEX NM_000444.6(PHEX):c.1523A>C (p.Gln508Pro)SNV Pathogenic 438538 rs1556070890 X:22196430-22196430 X:22178313-22178313
44 PHEX NM_000444.6(PHEX):c.1560del (p.Trp520fs)deletion Pathogenic 438545 rs1556071086 X:22196466-22196466 X:22178349-22178349
45 PHEX NM_000444.6(PHEX):c.1568_1569insT (p.Lys523fs)insertion Pathogenic 438543 rs1556071123 X:22196475-22196476 X:22178358-22178359
46 PHEX NM_000444.6(PHEX):c.1572dup (p.Val525fs)duplication Pathogenic 438564 rs1556071138 X:22196477-22196478 X:22178360-22178361
47 PHEX NM_000444.6(PHEX):c.1586+1G>ASNV Pathogenic 438534 rs1064796928 X:22196494-22196494 X:22178377-22178377
48 PHEX NM_000444.5(PHEX):c.1587-2145_1645+3342deldeletion Pathogenic 438551 X:22206416-22211961 X:22188299-22193844
49 PHEX NM_000444.6(PHEX):c.1590G>C (p.Trp530Cys)SNV Pathogenic 438486 rs1556091855 X:22208564-22208564 X:22190447-22190447
50 PHEX NM_000444.6(PHEX):c.1649_1650del (p.Phe550fs)deletion Pathogenic 438506 rs1556128043 X:22231023-22231024 X:22212906-22212907

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

73 (show all 30)
# Symbol AA change Variation ID SNP ID
1 PHEX p.Cys77Ser VAR_006738
2 PHEX p.Cys85Tyr VAR_006739 rs137853269
3 PHEX p.Leu138Pro VAR_006740
4 PHEX p.Arg166Cys VAR_006741 rs751230094
5 PHEX p.Phe252Ser VAR_006742 rs267606945
6 PHEX p.Met253Ile VAR_006743 rs267606946
7 PHEX p.Pro534Leu VAR_006744 rs886041363
8 PHEX p.Gly579Arg VAR_006745 rs875989883
9 PHEX p.Gly579Val VAR_006746 rs105751798
10 PHEX p.Phe80Ser VAR_010616
11 PHEX p.Cys85Phe VAR_010617
12 PHEX p.Cys85Arg VAR_010618 rs155601428
13 PHEX p.Ser141Pro VAR_010619
14 PHEX p.Cys142Phe VAR_010620
15 PHEX p.Leu160Arg VAR_010621
16 PHEX p.Asp237Gly VAR_010622
17 PHEX p.Tyr317Phe VAR_010623
18 PHEX p.Trp530Cys VAR_010626 rs155609185
19 PHEX p.Leu555Pro VAR_010627 rs137853270
20 PHEX p.Arg567Pro VAR_010628 rs760870713
21 PHEX p.Ala573Asp VAR_010629 rs155613530
22 PHEX p.Gln621Arg VAR_010630
23 PHEX p.Arg651Pro VAR_010631
24 PHEX p.Asn680Lys VAR_010633 rs155615152
25 PHEX p.Cys693Tyr VAR_010634 rs155620098
26 PHEX p.Ala720Thr VAR_010635
27 PHEX p.Phe731Tyr VAR_010636
28 PHEX p.Cys733Ser VAR_010637
29 PHEX p.Cys746Trp VAR_010638
30 PHEX p.Trp749Arg VAR_010639 rs155620640

Sources

Expression for Hypophosphatemic Rickets, X-Linked Dominant

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

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

# Super pathways Score Top Affiliating Genes
1
Signaling by FGFR2 65
Show member pathways
 11.83 KL GALNT3 FGF23
2
Endochondral Ossification 1
11.14 SPP1 PTH ENPP1
3
Parathyroid hormone synthesis, secretion and action 36
11.13 SLC34A3 SLC34A1 PTH KL FGF23 CYP27B1
4
Transcription_Role of VDR in regulation of genes involved in osteoporosis 22
10.79 SPP1 PTH CYP27B1
5
Osteoblast Signaling 1
10.47 PTH FGF23
6
Vitamin D Metabolism 1
10.26 PTH CYP27B1
Sources

GO Terms for Hypophosphatemic Rickets, X-Linked Dominant

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Cellular components related to Hypophosphatemic Rickets, X-Linked Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.7 SPP1 SFRP4 PTH KL FGF23 FAM20C
2 extracellular region GO:0005576 9.61 SPP1 SFRP4 PTH MEPE KL FGF23
3 vesicle GO:0031982 9.43 SPP1 SLC34A3 SLC34A1
4 endoplasmic reticulum lumen GO:0005788 9.02 SPP1 MEPE FGF23 FAM20C DMP1

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.85 PTH PHEX MEPE FAM20C
2 post-translational protein modification GO:0043687 9.85 SPP1 MEPE FGF23 FAM20C DMP1
3 cellular protein metabolic process GO:0044267 9.8 SPP1 SLC34A1 MEPE FGF23 FAM20C DMP1
4 ossification GO:0001503 9.79 SPP1 SLC34A1 DMP1
5 fibroblast growth factor receptor signaling pathway GO:0008543 9.76 KL GALNT3 FGF23
6 positive regulation of bone mineralization GO:0030501 9.71 PTH KL FAM20C
7 decidualization GO:0046697 9.65 SPP1 CYP27B1
8 response to cadmium ion GO:0046686 9.64 SLC34A1 PTH
9 response to lead ion GO:0010288 9.64 SLC34A1 PTH
10 phosphate-containing compound metabolic process GO:0006796 9.63 FGF23 ENPP1
11 negative regulation of bone mineralization GO:0030502 9.63 FGF23 ENPP1
12 response to growth hormone GO:0060416 9.62 SLC34A1 PHEX
13 cellular response to vitamin D GO:0071305 9.62 PHEX FGF23
14 vitamin D metabolic process GO:0042359 9.61 FGF23 CYP27B1
15 calcium ion homeostasis GO:0055074 9.61 PTH KL CYP27B1
16 response to magnesium ion GO:0032026 9.6 SLC34A1 FGF23
17 phosphate ion transport GO:0006817 9.59 SLC34A3 SLC34A1
18 dentinogenesis GO:0097187 9.58 SLC34A1 FAM20C
19 regulation of bone mineralization GO:0030500 9.58 FGF23 ENPP1 CYP27B1
20 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.57 KL FGF23
21 response to parathyroid hormone GO:0071107 9.56 SLC34A1 PTH
22 response to vitamin D GO:0033280 9.56 SPP1 PTH PHEX CYP27B1
23 cellular response to parathyroid hormone stimulus GO:0071374 9.54 SLC34A1 PHEX FGF23
24 response to sodium phosphate GO:1904383 9.52 PHEX FGF23
25 sodium-dependent phosphate transport GO:0044341 9.51 SLC34A3 SLC34A1
26 vitamin D catabolic process GO:0042369 9.49 FGF23 CYP27B1
27 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.48 FGF23 CYP27B1
28 cellular phosphate ion homeostasis GO:0030643 9.46 SLC34A3 SLC34A1 FGF23 ENPP1
29 phosphate ion homeostasis GO:0055062 9.26 SLC34A1 SFRP4 PTH FGF23
30 biomineral tissue development GO:0031214 9.1 SPP1 PHEX MEPE FAM20C ENPP1 DMP1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix binding GO:0050840 9.26 SPP1 DMP1
2 fibroblast growth factor receptor binding GO:0005104 9.16 KL FGF23
3 sodium:phosphate symporter activity GO:0005436 8.96 SLC34A3 SLC34A1
4 sodium-dependent phosphate transmembrane transporter activity GO:0015321 8.62 SLC34A3 SLC34A1
Sources

Sources for Hypophosphatemic Rickets, X-Linked Dominant

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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