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XLHR
MCID: HYP609
MIFTS: 65

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 57 20 73 13 71
Vitamin D-Resistant Rickets, X-Linked 57 12 20 71
X-Linked Hypophosphatemia 12 25 20 58
Xlh 57 20 58 73
Hypophosphatemic Vitamin D-Resistant Rickets 57 73 6
X-Linked Dominant Hypophosphatemic Rickets 12 36 15
X-Linked Hypophosphatemic Rickets 25 20 58
Xlhr 57 25 73
Hpdr 57 20 73
Hyp 57 74 73
Familial Hypophosphatemic Rickets 44 71
Hypophosphatemic Vitamin D-Resistant Rickets; Hpdr 57
Hypophosphatemia, Vitamin D-Resistant Rickets 12
Rickets, Hypophosphatemic, X-Linked Dominant 39
Hypophophatemic Vitamin D-Resistant Rickets 20
Hypophosphatemic Rickets X-Linked Dominant 12
X-Linked Vitamin D-Resistant Rickets 25
Vitamin D-Resistant Rickets X-Linked 73
Rickets, X-Linked Hypophosphatemic 71
Hypophosphatemia, X-Linked; Xlh 57
Vitamin D-Resistant Rickets 71
Hypophosphatemia, X-Linked 57
Hypophophatemia, X-Linked 20
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®:

57 (Updated 05-Mar-2021)
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:

25
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® 57 307800
OMIM Phenotypic Series 57 PS193100
KEGG 36 H02143
MeSH 44 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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GARD : 20 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 nevus, epidermal, 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 Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers and Endochondral Ossification. The drugs Vitamin D and Nutrients 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® : 57 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) (Updated 05-Mar-2021)

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
Sources

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 212)
# Related Disease Score Top Affiliating Genes
1 hereditary hypophosphatemic rickets 32.7 SLC34A3 SLC34A1
2 nevus, epidermal 30.9 PHEX GALNT3 FGF23 FAM20C ENPP1
3 osteogenesis imperfecta, type iii 30.5 SLC34A1 FAM20C BGLAP
4 renal osteodystrophy 30.5 SOST PTH FGF23 BGLAP
5 schimmelpenning-feuerstein-mims syndrome 30.4 SLC34A3 PHEX MEPE GALNT3 FGF23 ENPP1
6 nephrocalcinosis 30.4 SPP1 SLC34A3 SLC34A1 PHEX
7 hypophosphatemic rickets, autosomal dominant 30.4 SLC34A3 SLC34A1 PTH PHEX MEPE KL
8 hypervitaminosis d 30.4 PTH KL GALNT3 FGF23 CYP27B1
9 dental pulp necrosis 30.3 MEPE DMP1 BGLAP
10 hypoparathyroidism 30.3 PTH FGF23 BGLAP
11 fibrous dysplasia 30.2 SPP1 FGF23 BGLAP
12 metabolic acidosis 30.2 PTH FGF23 BGLAP
13 hyperparathyroidism 30.1 PTH PHEX KL FGF23 CYP27B1 BGLAP
14 bone resorption disease 30.1 SPP1 SOST PTH FGF23 BGLAP
15 hyperostosis 30.0 SPP1 SOST KL GALNT3 FGF23 ALPL
16 dental abscess 30.0 SLC34A3 PTH PHEX MEPE KL GALNT3
17 secondary hyperparathyroidism 30.0 PTH PHEX KL FGF23 CYP27B1 BGLAP
18 sclerosteosis 29.9 SOST PTH BGLAP
19 oncogenic osteomalacia 29.9 PTH PHEX MEPE FGF23 DMP1
20 end stage renal disease 29.9 SPP1 PTH KL FGF23
21 bone disease 29.9 SPP1 SOST SLC34A3 PTH PHEX FGF23
22 hypophosphatemic rickets, x-linked recessive 29.8 SLC34A3 SLC34A1 PTCHD1-AS PHEX MEPE FGF23
23 chronic kidney disease 29.8 SPP1 SOST PTH KL FGF23 ENPP1
24 brittle bone disorder 29.8 SPP1 SOST SLC34A1 PTH PHEX MEPE
25 calcinosis 29.7 SPP1 PHEX MEPE KL GALNT3 FGF23
26 hypophosphatasia 29.6 SPP1 PTH PHEX FGF23 ENPP1 BGLAP
27 primary hyperparathyroidism 29.6 SOST PTH KL FGF23 CYP27B1 BGLAP
28 hyperphosphatemia 29.6 SPP1 SLC34A1 PTH PHEX KL GALNT3
29 nephrolithiasis 29.5 SPP1 SLC34A3 SLC34A1 PTH FGF23 BGLAP
30 kidney disease 29.5 SPP1 PTH FGF23 ENPP1 CYP27B1 BGLAP
31 enthesopathy 29.5 SLC34A3 PTH PHEX MEPE KL GALNT3
32 rickets 29.0 SPP1 SLC34A3 SLC34A1 PTH PHEX MEPE
33 autosomal recessive hypophosphatemic rickets 28.7 SOST SLC34A3 PTH PHEX MEPE KL
34 hypophosphatemia 28.5 SPP1 SLC34A3 SLC34A1 PTH PHEX MEPE
35 osteomalacia 28.4 SOST SLC34A3 SLC34A1 PTH PHEX MEPE
36 vitamin d-dependent rickets, type 2a 11.4
37 helix syndrome 10.4
38 opsismodysplasia 10.4 PHEX FGF23
39 blount's disease 10.3 SLC34A3 FGF23 EMP1
40 hepatocellular clear cell carcinoma 10.3 KL FGF23
41 tracheal calcification 10.3 PTH KL FGF23
42 calciphylaxis 10.3 PTH FGF23
43 fanconi renotubular syndrome 2 10.3 SLC34A3 SLC34A1 PHEX
44 dentin dysplasia, type ii 10.3 SPP1 DMP1
45 hypercalcemia, infantile, 1 10.3 SLC34A1 PTH
46 suppurative thyroiditis 10.3 PTH EMP1
47 hypophosphatemic rickets and hyperparathyroidism 10.3
48 papilledema 10.3
49 intracranial hypertension 10.3
50 periarthritis 10.3 ENPP1 ALPL

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 top 50) (show all 55)
# 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 hypocalciuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003127
4 elevated alkaline phosphatase 58 31 hallmark (90%) Very frequent (99-80%) HP:0003155
5 renal phosphate wasting 58 31 hallmark (90%) Very frequent (99-80%) HP:0000117
6 abnormality of lower-limb metaphyses 58 31 hallmark (90%) Very frequent (99-80%) HP:0006490
7 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
8 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
9 abnormality of epiphysis morphology 58 31 frequent (33%) Frequent (79-30%) HP:0005930
10 genu varum 58 31 frequent (33%) Frequent (79-30%) HP:0002970
11 bone pain 58 31 frequent (33%) Frequent (79-30%) HP:0002653
12 disproportionate short stature 58 31 frequent (33%) Frequent (79-30%) HP:0003498
13 tooth abscess 58 31 frequent (33%) Frequent (79-30%) HP:0030757
14 rachitic rosary 58 31 frequent (33%) Frequent (79-30%) HP:0000897
15 delayed ability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0031936
16 shell teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000694
17 delayed ability to stand 58 31 frequent (33%) Frequent (79-30%) HP:0025335
18 upper limb metaphyseal widening 58 31 frequent (33%) Frequent (79-30%) HP:0003856
19 shortening of the talar neck 58 31 frequent (33%) Frequent (79-30%) HP:0008117
20 flattening of the talar dome 58 31 frequent (33%) Frequent (79-30%) HP:0008144
21 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
22 arthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001369
23 craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001363
24 limitation of joint mobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0001376
25 flared iliac wings 58 31 occasional (7.5%) Occasional (29-5%) HP:0002869
26 enthesitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100686
27 enlargement of the costochondral junction 58 31 occasional (7.5%) Occasional (29-5%) HP:0000920
28 beaded ribs 58 31 occasional (7.5%) Occasional (29-5%) HP:0000923
29 trapezoidal distal femoral condyles 58 31 occasional (7.5%) Occasional (29-5%) HP:0006432
30 vertebral hyperostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008442
31 sacroiliac joint synovitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012449
32 thick growth plates 58 31 occasional (7.5%) Occasional (29-5%) HP:0025369
33 sensorineural hearing impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0000407
34 cellulitis 58 31 very rare (1%) Very rare (<4-1%) HP:0100658
35 arnold-chiari malformation 58 31 very rare (1%) Very rare (<4-1%) HP:0002308
36 generalized osteosclerosis 58 31 very rare (1%) Very rare (<4-1%) HP:0005789
37 bowing of the legs 58 31 Frequent (79-30%) HP:0002979
38 bowing of the long bones 58 Frequent (79-30%)
39 short stature 31 HP:0004322
40 renal tubular dysfunction 31 HP:0000124
41 reduced bone mineral density 58 Frequent (79-30%)
42 growth delay 58 Frequent (79-30%)
43 osteomalacia 31 HP:0002749
44 spinal canal stenosis 31 HP:0003416
45 abnormality of pelvic girdle bone morphology 31 HP:0002644
46 osteoarthritis 31 HP:0002758
47 femoral bowing 31 HP:0002980
48 tibial bowing 31 HP:0002982
49 spinal cord compression 31 HP:0002176
50 fibular bowing 31 HP:0010502

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Head:
frontal bossing

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 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

Growth Height:
short stature

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 (Updated 05-Mar-2021)

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


arthralgia, bone pain

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

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.29 ALPL BGLAP CYP27B1 DMP1 ENPP1 FAM20C
2 growth/size/body region MP:0005378 10.28 ALPL CYP27B1 DMP1 ENPP1 FAM20C FGF23
3 homeostasis/metabolism MP:0005376 10.27 ALPL BGLAP CYP27B1 DMP1 EMP1 ENPP1
4 craniofacial MP:0005382 10.19 ALPL CYP27B1 DMP1 ENPP1 FAM20C GALNT3
5 hematopoietic system MP:0005397 10.18 ALPL BGLAP CYP27B1 DMP1 FAM20C FGF23
6 immune system MP:0005387 10.13 ALPL BGLAP CYP27B1 DMP1 ENPP1 FAM20C
7 endocrine/exocrine gland MP:0005379 10.11 ALPL BGLAP CYP27B1 FAM20C FGF23 GALNT3
8 digestive/alimentary MP:0005381 10.02 ALPL FAM20C FGF23 GALNT3 KL PHEX
9 limbs/digits/tail MP:0005371 10 ALPL CYP27B1 DMP1 ENPP1 FAM20C FGF23
10 renal/urinary system MP:0005367 9.9 CYP27B1 DMP1 ENPP1 FAM20C FGF23 GALNT3
11 reproductive system MP:0005389 9.61 ALPL BGLAP CYP27B1 FAM20C FGF23 GALNT3
12 skeleton MP:0005390 9.53 ALPL BGLAP CYP27B1 DMP1 ENPP1 FAM20C
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 all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
2 Nutrients Phase 4
3 Micronutrients Phase 4
4 Trace Elements Phase 4
5 Vitamins Phase 4
6 Vasoconstrictor Agents Phase 4
7 Calciferol Phase 4
8 Mitogens Phase 4
9 Immunoglobulins Phase 4
10 Antibodies Phase 4
11 Antibodies, Monoclonal Phase 4
12 Immunologic Factors Phase 4
13
Parathyroid hormone Approved, Investigational Phase 3 9002-64-6
14 Pharmaceutical Solutions Phase 3
15
Sevelamer Approved 52757-95-6
16
Salmon calcitonin Approved, Investigational 47931-85-1 16129616
17
Ferrous gluconate Approved 299-29-6
18
Iron Approved 7439-89-6 23925 29936
19
Sodium citrate Approved, Investigational 68-04-2
20
Alfacalcidol Approved, Nutraceutical 41294-56-8 5282181
21
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
22
Calcitonin gene-related peptide Investigational 83652-28-2
23 Chelating Agents
24 Hydroxycholecalciferols
25 Katacalcin
26 calcitonin
27 Vasodilator Agents
28 Respiratory System Agents
29 Methacholine Chloride
30 Neurotransmitter Agents
31 Cholinergic Agents
32 Muscarinic Agonists
33 Hematinics
34 Iron Supplement
35 Dihydroxycholecalciferols Early Phase 1
36 Citrate

Interventional clinical trials:

(show all 44)
# 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 Examining the Effect of Burosumab on Muscle Function Using MR Spectroscopy Recruiting NCT04146935 Phase 4 Burosumab Injection [Crysvita]
3 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
4 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
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 Randomized, Double-Blind, Placebo-Controlled, Phase 3 Study With Open-Label Extension to Assess the Efficacy and Safety of KRN23 in Adults With X-linked Hypophosphatemia (XLH) Completed NCT02526160 Phase 3
7 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, 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
9 An Open Label Trial to Assess the Safety and Efficacy of Burosumab (KRN23), an Investigational Antibody to FGF23, in a Single Pediatric Patient With Epidermal Nevus Syndrome(ENS) and Associated Hypophosphatemic Rickets Completed NCT03581591 Phase 3
10 Therapeutic Use of Oral Sodium Phosphate (Z-521) in Primary Hypophosphatemic Rickets Completed NCT01237288 Phase 3 Z-521
11 An Investigator-sponsored Phase 3b Open-label Study of Anti- FGF23 Antibody Burosumab (KRN23) in Adult Patients With Xlinked Hypophosphatemia (XLH) in GERmany - BurGER Recruiting NCT04695860 Phase 3 Burosumab
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 Proposition Pour un Traitement Par Hormone de Croissance Des Enfants Atteints de Rachitisme Hypophosphatemique Familial Completed NCT02720770 Phase 1, Phase 2 norditropine simplex
15 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
16 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
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 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
19 A Phase 2b, Open-Label, Long-Term Extension Study to Evaluate the Safety and Pharmacodynamics of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH) Completed NCT02312687 Phase 2
20 A 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
21 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
22 Effect of Calcimimetic (Cinacalcet) on Phosphate-Induced Hyperparathyroidism in Children With Hypophosphatemic Rickets Completed NCT00195936 Phase 1 Cinacalcet
23 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
24 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
25 Hypophosphatemic Rickets in Norway Unknown status NCT01057186 Sevelamer
26 The Natural History of Generalized Arterial Calcification of Infancy (GACI) With or Without Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) or Pseudoxanthoma Elasticum (PXE) Unknown status NCT03758534
27 Calcitonin for Treating X-linked Hypophosphatemia Completed NCT01652573 nasal salmon calcitonin;Saline Nasal Spray Placebo
28 X-linked Hypophosphatemia and Carbohydrate and Lipid Metabolism: a Role for FGF21? Completed NCT03596554
29 A Natural History Study of Patients With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Completed NCT03478839
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 Calcitriol Monotherapy for X-Linked Hypophosphatemia: Effects on Mineral Ions, Growth and Skeletal Parameters Recruiting NCT03748966 Early Phase 1 Calcitriol
34 An International, Multicenter, Prospective, Longitudinal Observational Study for Patient With X-linked Hypophosphatemic Rickets/Osteomalacia Recruiting NCT03745521
35 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
36 X-linked Hypophosphatemia Disease Monitoring Program (XLH-DMP) Recruiting NCT03651505
37 Dental Implants in Patients With X-linked Hypophosphatemia Recruiting NCT03879915
38 An International, Multicentre, Prospective, Non-interventional Observational Registry for Patients With X-linked Hypophosphatemia (XLH) Recruiting NCT03193476
39 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
40 Interplay of FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP) Recruiting NCT03489993
41 Effect of Burosumab and 1-25 (OH) Vitamin D on Human Osteoclasts From Patients With Hypophosphatemic Rickets (HR) Recruiting NCT04184661
42 Retrospective and Prospective Disease Progression and Quality of Life in X-linked Hypophosphatemia (XLH) Active, not recruiting NCT04049877
43 Expanded Access to Burosumab Available NCT03775187
44 Effect of Cinacalcet on the Long-term Treatment of Familial Hypophosphatemic Rickets Withdrawn NCT00844740 Cinacalcet

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

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

40
Bone, Spinal Cord, Kidney, Bone Marrow, Liver, Thyroid
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 472)
# Title Authors PMID Year
1
Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. 6 57 25
9106524 1997
2
Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene. 57 6
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. 6 57
9768646 1998
4
Mutational analysis of PHEX gene in X-linked hypophosphatemia. 25 6 61
9768674 1998
5
A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium. 6 57
7550339 1995
6
X-linked hypophosphatemia in adults: prevalence of skeletal radiographic and scintigraphic features. 61 25 57
2539609 1989
7
Adult-onset vitamin D-resistant hypophosphatemic osteomalacia. A possible variant of vitamin D-resistant rickets. 57 6
188828 1977
8
PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets. 25 57
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. 25 6
16303832 2006
10
Calcification of entheses associated with X-linked hypophosphatemic osteomalacia. 57 25
4000222 1985
11
Burosumab Therapy in Children with X-Linked Hypophosphatemia. 57 61
29791829 2018
12
Calcitonin administration in X-linked hypophosphatemia. 61 57
21524226 2011
13
X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene. 61 6
11502821 2001
14
Pathophysiology of X-linked hypophosphatemia, tumor-induced osteomalacia, and autosomal dominant hypophosphatemia: a perPHEXing problem. 57 61
11157997 2001
15
PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia. 61 57
10874297 2000
16
The effect of recombinant human growth hormone in children with X-linked hypophosphatemia. 57 61
9346990 1997
17
Cardiovascular abnormalities in patients with X-linked hypophosphatemia. 57 61
9253316 1997
18
24,25 Dihydroxyvitamin D supplementation corrects hyperparathyroidism and improves skeletal abnormalities in X-linked hypophosphatemic rickets--a clinical research center study. 61 57
8964881 1996
19
Nocturnal hyperparathyroidism: a frequent feature of X-linked hypophosphatemia. 61 57
8200940 1994
20
X-linked hypophosphatemic rickets: a study (with literature review) of linear growth response to calcitriol and phosphate therapy. 61 57
1414477 1992
21
X-linked hypophosphatemia: an appreciation of a classic paper and a survey of progress since 1958. 61 57
1851532 1991
22
X-linked hypophosphatemia: the mutant gene is expressed in teeth as well as in kidney. 61 57
2155529 1990
23
The effects of Mendelian mutation on renal sulfate and phosphate transport in man and mouse. 57 61
6701031 1984
24
Orthophosphate transport in the erythrocyte of normal subjects and of patients with X-linked hypophosphatemia. 57 61
1117070 1975
25
Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia. 57 61
4340235 1972
26
Loss of a parathyroid hormone-sensitive component of phosphate transport in X-linked hypophosphatemia. 61 57
4333173 1972
27
Effect of four monthly doses of a human monoclonal anti-FGF23 antibody (KRN23) on quality of life in X-linked hypophosphatemia. 25 61
28326356 2016
28
Conventional Therapy in Adults With X-Linked Hypophosphatemia: Effects on Enthesopathy and Dental Disease. 61 25
26176801 2015
29
Prolonged Correction of Serum Phosphorus in Adults With X-Linked Hypophosphatemia Using Monthly Doses of KRN23. 61 25
25919461 2015
30
Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia. 61 25
24569459 2014
31
A clinician's guide to X-linked hypophosphatemia. 61 25
21538511 2011
32
The journey from vitamin D-resistant rickets to the regulation of renal phosphate transport. 57
19808223 2009
33
MEPE-ASARM peptides control extracellular matrix mineralization by binding to hydroxyapatite: an inhibition regulated by PHEX cleavage of ASARM. 25 61
18597632 2008
34
Calcimimetics as an adjuvant treatment for familial hypophosphatemic rickets. 25 61
18256372 2008
35
A clinical and molecular genetic study of hypophosphatemic rickets in children. 57
16055933 2005
36
Hearing impairment in familial X-linked hypophosphatemic rickets. 57
15290264 2004
37
Anthropometric characteristics of X-linked hypophosphatemia. 25 61
15057978 2004
38
Parathyroidectomy for tertiary hyperparathyroidism associated with X-linked dominant hypophosphatemic rickets. 57
14769584 2004
39
Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets. 57
12915641 2003
40
Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. 25 61
12711740 2003
41
X-linked hypophosphatemia in Polish patients. 2. Analysis of clinical features and genotype-phenotype correlation. 61 25
14564066 2001
42
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. 57
11062477 2000
43
Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues. 6
10439971 1999
44
Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets. 6
9199930 1997
45
Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP). 6
9097956 1997
46
Paraplegia due to ossification of ligamenta flava in X-linked hypophosphatemia. A case report. 25 61
9089946 1997
47
Tertiary hyperparathyroidism during high phosphate therapy of familial hypophosphatemic rickets. 57
1464657 1992
48
Normal calcitonin stimulation of serum calcitriol in patients with X-linked hypophosphatemic rickets. 57
1639943 1992
49
Three DNA markers for hypophosphataemic rickets. 57
1353055 1992
50
Effects of therapy in X-linked hypophosphatemic rickets. 57
1660098 1991
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 239)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PHEX PHEX, 2-BP DEL, 675TC Deletion Pathogenic 10813
2 PHEX PHEX, IVS1AS, G-A, -1 SNV Pathogenic 10814
3 PHEX PHEX, IVS1AS, G-C, -1 SNV Pathogenic 10815
4 PHEX NM_000444.6(PHEX):c.830T>A (p.Leu277Ter) SNV Pathogenic 10816 rs137853268 X:22112198-22112198 X:22094080-22094080
5 PHEX NM_000444.6(PHEX):c.254G>A (p.Cys85Tyr) SNV Pathogenic 10817 rs137853269 X:22065234-22065234 X:22047116-22047116
6 PHEX PHEX, A-G, NT-429 SNV Pathogenic 10820
7 PHEX PHEX, IVS4, T-C, +6 SNV Pathogenic 10823
8 PHEX NM_000444.6(PHEX):c.1080-1G>A SNV Pathogenic 280503 rs886041695 X:22129584-22129584 X:22111466-22111466
9 PTCHD1-AS NM_000444.6(PHEX):c.1854_1857dup (p.Asn620delinsAspTer) Duplication Pathogenic 280080 rs886041367 X:22239813-22239814 X:22221696-22221697
10 PTCHD1-AS NM_000444.6(PHEX):c.1899+1G>A SNV Pathogenic 447937 rs1556138769 X:22239861-22239861 X:22221744-22221744
11 PHEX NM_000444.6(PHEX):c.1587-1G>A SNV Pathogenic 280672 rs886041839 X:22208560-22208560 X:22190443-22190443
12 PHEX NM_000444.6(PHEX):c.849+1268G>T SNV Pathogenic 10821 rs919011936 X:22113485-22113485 X:22095367-22095367
13 PHEX NM_000444.6(PHEX):c.733-1G>C SNV Pathogenic 689777 rs886041223 X:22112100-22112100 X:22093982-22093982
14 PHEX NM_000444.6(PHEX):c.20_21del (p.Ser7fs) Deletion Pathogenic 803736 rs1602240926 X:22051143-22051144 X:22033025-22033026
15 PHEX NM_000444.6(PHEX):c.101del (p.Gly34fs) Deletion Pathogenic 803737 rs1602241023 X:22051222-22051222 X:22033104-22033104
16 PHEX NM_000444.6(PHEX):c.349+1G>A SNV Pathogenic 803740 rs193922459 X:22065330-22065330 X:22047212-22047212
17 PHEX NM_000444.6(PHEX):c.540G>A (p.Trp180Ter) SNV Pathogenic 803743 rs1602274883 X:22095697-22095697 X:22077579-22077579
18 PHEX NM_000444.6(PHEX):c.559del (p.Leu187fs) Deletion Pathogenic 803744 rs1602274893 X:22095715-22095715 X:22077597-22077597
19 PHEX NM_000444.6(PHEX):c.582del (p.Arg195fs) Deletion Pathogenic 803745 rs1602274929 X:22095737-22095737 X:22077619-22077619
20 PHEX NM_000444.6(PHEX):c.593del (p.Tyr198fs) Deletion Pathogenic 803746 rs1602274950 X:22095750-22095750 X:22077632-22077632
21 PHEX NM_000444.6(PHEX):c.849_849+2del Deletion Pathogenic 803747 rs1602288211 X:22112217-22112219 X:22094099-22094101
22 PHEX NM_000444.6(PHEX):c.865G>T (p.Glu289Ter) SNV Pathogenic 803748 rs1602290398 X:22115088-22115088 X:22096970-22096970
23 PHEX NM_000444.6(PHEX):c.934-1G>T SNV Pathogenic 803749 rs1602292528 X:22117123-22117123 X:22099005-22099005
24 PHEX NM_000444.6(PHEX):c.985del (p.His329fs) Deletion Pathogenic 803750 rs1556025994 X:22117171-22117171 X:22099053-22099053
25 PHEX NM_000444.6(PHEX):c.1157G>A (p.Trp386Ter) SNV Pathogenic 803752 rs1602304005 X:22129662-22129662 X:22111544-22111544
26 PHEX NM_000444.6(PHEX):c.1215del (p.Lys405fs) Deletion Pathogenic 803754 rs1602307094 X:22132615-22132615 X:22114497-22114497
27 PHEX NM_000444.6(PHEX):c.1217G>A (p.Cys406Tyr) SNV Pathogenic 803755 rs1602307107 X:22132619-22132619 X:22114501-22114501
28 PHEX NM_000444.6(PHEX):c.1324del (p.Val442fs) Deletion Pathogenic 803756 rs1602324484 X:22151661-22151661 X:22133544-22133544
29 PHEX NM_000444.6(PHEX):c.1402A>T (p.Lys468Ter) SNV Pathogenic 803757 rs1602324630 X:22151739-22151739 X:22133622-22133622
30 PHEX-AS1 NM_000444.6(PHEX):c.1425del (p.Val476fs) Deletion Pathogenic 803758 rs1602354302 X:22186446-22186446 X:22168329-22168329
31 PHEX NM_000444.6(PHEX):c.1496_1497insTCA (p.Glu499delinsAspGln) Insertion Pathogenic 803759 rs1602363343 X:22196402-22196403 X:22178285-22178286
32 PTCHD1-AS NM_000444.6(PHEX):c.1646G>C (p.Arg549Pro) SNV Pathogenic 803761 rs1602395717 X:22231021-22231021 X:22212904-22212904
33 PTCHD1-AS NM_000444.6(PHEX):c.1741G>T (p.Glu581Ter) SNV Pathogenic 803764 rs1602402229 X:22237193-22237193 X:22219076-22219076
34 PTCHD1-AS NM_000444.6(PHEX):c.1769-1G>T SNV Pathogenic 803766 rs1602405079 X:22239729-22239729 X:22221612-22221612
35 PTCHD1-AS NM_000444.6(PHEX):c.1825G>T (p.Glu609Ter) SNV Pathogenic 803768 rs1602405239 X:22239786-22239786 X:22221669-22221669
36 PTCHD1-AS NM_000444.6(PHEX):c.1899+2T>G SNV Pathogenic 803770 rs1602405375 X:22239862-22239862 X:22221745-22221745
37 PTCHD1-AS NM_000444.6(PHEX):c.2125del (p.Ala709fs) Deletion Pathogenic 803774 rs1602439597 X:22263504-22263504 X:22245387-22245387
38 PTCHD1-AS NM_000444.6(PHEX):c.2133T>G (p.Ser711Arg) SNV Pathogenic 803775 rs1602439611 X:22263512-22263512 X:22245395-22245395
39 PTCHD1-AS NM_000444.6(PHEX):c.2147+2T>G SNV Pathogenic 803776 rs1602439662 X:22263528-22263528 X:22245411-22245411
40 PHEX NM_000444.6(PHEX):c.135_136del (p.Leu47fs) Deletion Pathogenic 829959 rs1602244774 X:22056603-22056604 X:22038485-22038486
41 PTCHD1-AS NM_000444.6(PHEX):c.1664T>C (p.Leu555Pro) SNV Pathogenic 10819 rs137853270 X:22231039-22231039 X:22212922-22212922
42 PHEX NM_000444.6(PHEX):c.501G>A (p.Trp167Ter) SNV Pathogenic 522470 rs1556020770 X:22095658-22095658 X:22077540-22077540
43 PHEX NM_000444.6(PHEX):c.1208G>A (p.Trp403Ter) SNV Pathogenic 803753 rs1602307078 X:22132610-22132610 X:22114492-22114492
44 PTCHD1-AS NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter) SNV Pathogenic 10822 rs137853271 X:22231074-22231074 X:22212957-22212957
45 PTCHD1-AS NM_000444.6(PHEX):c.1986_1989dup (p.Arg664Ter) Duplication Pathogenic 438550 rs1556151137 X:22245643-22245644 X:22227526-22227527
46 PTCHD1-AS NM_000444.6(PHEX):c.1768+1G>A SNV Pathogenic 438498 rs886041296 X:22237221-22237221 X:22219104-22219104
47 PHEX NM_000444.6(PHEX):c.1543C>T (p.Gln515Ter) SNV Pathogenic 280074 rs886041361 X:22196450-22196450 X:22178333-22178333
48 PTCHD1-AS NM_000444.6(PHEX):c.1979G>A (p.Trp660Ter) SNV Pathogenic 280082 rs886041369 X:22245637-22245637 X:22227520-22227520
49 PHEX NM_000444.6(PHEX):c.732+5G>C SNV Pathogenic 438569 rs1556023528 X:22108620-22108620 X:22090502-22090502
50 PHEX NM_000444.6(PHEX):c.424del (p.Cys142fs) Deletion Pathogenic 438533 rs1556020474 X:22094580-22094580 X:22076462-22076462

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 rs748792378
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 rs105751798
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
Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.59 SPP1 PTH BGLAP
2
Endochondral Ossification 1
11.37 SPP1 PTH ENPP1 ALPL
3
Parathyroid hormone synthesis, secretion and action 36
11.25 SOST SLC34A3 SLC34A1 PTH KL FGF23
4
FGF signaling pathway 1
11.22 SPP1 FGF23 BGLAP
5
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 23
11.09 SPP1 PTH BGLAP
6
Transcription_Role of VDR in regulation of genes involved in osteoporosis 23
10.91 SPP1 PTH CYP27B1 BGLAP
7
Osteoblast Signaling 1
10.48 PTH FGF23 BGLAP
8
Vitamin D Metabolism 1
10.4 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 9.81 SPP1 SOST PTH KL FGF23 FAM20C
2 extracellular region GO:0005576 9.7 SPP1 SOST PTH MEPE KL FGF23
3 vesicle GO:0031982 9.56 SPP1 SLC34A3 SLC34A1 BGLAP
4 endoplasmic reticulum lumen GO:0005788 9.1 SPP1 MEPE FGF23 FAM20C DMP1 BGLAP

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.97 SPP1 MEPE FGF23 FAM20C DMP1
2 skeletal system development GO:0001501 9.85 PTH PHEX MEPE BGLAP ALPL
3 cellular protein metabolic process GO:0044267 9.85 SPP1 SLC34A1 MEPE FGF23 FAM20C DMP1
4 osteoblast differentiation GO:0001649 9.8 SPP1 BGLAP ALPL
5 ossification GO:0001503 9.8 SPP1 SOST SLC34A1 DMP1 BGLAP
6 fibroblast growth factor receptor signaling pathway GO:0008543 9.77 KL GALNT3 FGF23
7 bone mineralization GO:0030282 9.75 PHEX CYP27B1 BGLAP
8 calcium ion homeostasis GO:0055074 9.67 PTH KL CYP27B1
9 cellular response to vitamin D GO:0071305 9.65 PHEX FGF23 BGLAP
10 response to lead ion GO:0010288 9.64 SLC34A1 PTH
11 phosphate-containing compound metabolic process GO:0006796 9.63 FGF23 ENPP1
12 negative regulation of bone mineralization GO:0030502 9.63 FGF23 ENPP1
13 response to growth hormone GO:0060416 9.62 SLC34A1 PHEX
14 regulation of bone mineralization GO:0030500 9.62 FGF23 ENPP1 CYP27B1 BGLAP
15 vitamin D metabolic process GO:0042359 9.61 FGF23 CYP27B1
16 response to magnesium ion GO:0032026 9.61 SLC34A1 FGF23
17 phosphate ion homeostasis GO:0055062 9.61 SLC34A1 PTH FGF23
18 phosphate ion transport GO:0006817 9.6 SLC34A3 SLC34A1
19 response to parathyroid hormone GO:0071107 9.58 SLC34A1 PTH
20 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.56 KL FGF23
21 cellular response to parathyroid hormone stimulus GO:0071374 9.56 SOST SLC34A1 PHEX FGF23
22 response to sodium phosphate GO:1904383 9.55 PHEX FGF23
23 sodium-dependent phosphate transport GO:0044341 9.54 SLC34A3 SLC34A1
24 vitamin D catabolic process GO:0042369 9.52 FGF23 CYP27B1
25 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.51 FGF23 CYP27B1
26 cellular phosphate ion homeostasis GO:0030643 9.46 SLC34A3 SLC34A1 FGF23 ENPP1
27 response to vitamin D GO:0033280 9.43 SPP1 PTH PHEX CYP27B1 BGLAP ALPL
28 biomineral tissue development GO:0031214 9.23 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 sodium:phosphate symporter activity GO:0005436 8.62 SLC34A3 SLC34A1
Sources

Sources for Hypophosphatemic Rickets, X-Linked Dominant

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
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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