ADHR
MCID: HYP260
MIFTS: 60

Hypophosphatemic Rickets, Autosomal Dominant (ADHR)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Muscle diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Hypophosphatemic Rickets, Autosomal Dominant

MalaCards integrated aliases for Hypophosphatemic Rickets, Autosomal Dominant:

Name: Hypophosphatemic Rickets, Autosomal Dominant 56 73 13 54
Autosomal Dominant Hypophosphatemic Rickets 12 58 36 29 6 15
Adhr 56 58 73
Autosomal Dominant Hypophosphatemia 58 73
Vitamin D-Resistant Rickets, Autosomal Dominant 56
Autosomal Dominant Vitamin D-Resistant Rickets 73
Rickets, Hypophosphatemic, Autosomal Dominant 39
Hypophosphatemia, Autosomal Dominant 56
Rickets 43

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant hypophosphatemic rickets
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

56
Miscellaneous:
incomplete penetrance
highly variable phenotype
two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty
rarely, patients with childhood-onset may lose the renal phosphate-wasting defect
treatment with vitamin d and phosphate is effective
similar phenotype to x-linked hypophosphatemia (xlh, )

Inheritance:
autosomal dominant


HPO:

31
hypophosphatemic rickets, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0050948
OMIM 56 193100
OMIM Phenotypic Series 56 PS193100
KEGG 36 H02141
MeSH 43 D012279
ICD10 via Orphanet 33 E83.3
UMLS via Orphanet 72 C0342642 C1704375
Orphanet 58 ORPHA89937
MedGen 41 C0342642

Summaries for Hypophosphatemic Rickets, Autosomal Dominant

OMIM : 56 Autosomal dominant hypophosphatemic rickets is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with bone pain, rickets, and tooth abscesses. In contrast to X-linked dominant hypophosphatemic rickets (XLH; 307800), ADHR shows incomplete penetrance, variable age at onset (childhood to adult), and resolution of the phosphate-wasting defect in rare cases (Econs et al., 1997). See also hypophosphatemic bone disease (146350). (193100)

MalaCards based summary : Hypophosphatemic Rickets, Autosomal Dominant, also known as autosomal dominant hypophosphatemic rickets, is related to vitamin d-dependent rickets, type 2a and hypophosphatasia. An important gene associated with Hypophosphatemic Rickets, Autosomal Dominant is FGF23 (Fibroblast Growth Factor 23), and among its related pathways/superpathways are Signaling by FGFR2 and Parathyroid hormone synthesis, secretion and action. The drugs Dinoprostone and Calcium carbonate have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and liver, and related phenotypes are muscle weakness and hypophosphatemia

Disease Ontology : 12 A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has material basis in autosomal dominant inheritance.

KEGG : 36 Autosomal dominant hypophosphatemic rickets (ADHR) is a rare genetic disorder, characterized by low serum phosphorus concentrations, rickets, osteomalacia, lower extremity deformities, short stature, bone pain and dental abscesses. The mutations in FGF23 cause ADHR. FGF23 is a circulatory hormone produced by osteocytes, but is also found in heart and liver. FGF23 helps maintain phosphorus homeostasis by inducing renal phosphate excretion.

UniProtKB/Swiss-Prot : 73 Hypophosphatemic rickets, autosomal dominant: A disease characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with bone pain, rickets, and tooth abscesses.

Wikipedia : 74 X-linked dominant hypophosphatemic rickets (ADHR) is a rare hereditary disease in which excessive loss... more...

Related Diseases for Hypophosphatemic Rickets, Autosomal Dominant

Diseases in the Hereditary Hypophosphatemic Rickets family:

Hypophosphatemic Rickets, Autosomal Dominant Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic Rickets, Autosomal Recessive, 2 Autosomal Recessive Hypophosphatemic Rickets

Diseases related to Hypophosphatemic Rickets, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 491)
# Related Disease Score Top Affiliating Genes
1 vitamin d-dependent rickets, type 2a 34.5 PHEX CYP27B1
2 hypophosphatasia 31.9 PTH PHEX FGF23 ENPP1
3 hypophosphatemic rickets with hypercalciuria, hereditary 31.7 SLC34A3 PTH PHEX GALNT3 FGF23 ENPP1
4 hypophosphatasia, adult 31.6 PTH ENPP1
5 bone disease 30.7 SLC34A3 PTH PHEX FGF23
6 nephrolithiasis 30.7 SLC34A3 PTH FGF23
7 arterial calcification of infancy 30.5 SLC34A3 PHEX KL GALNT3 FGF23 FAM20C
8 osteitis fibrosa 30.4 PTH FGF23
9 brittle bone disorder 30.3 PTH PHEX MEPE
10 osteoblastoma 30.2 SLC34A3 MEPE FGF23
11 opsismodysplasia 30.1 PHEX FGF23
12 hyperostosis 30.1 KL GALNT3 FGF23
13 dental pulp necrosis 29.9 MEPE DMP1
14 nevus, epidermal 29.9 SLC34A3 PHEX FGF23 ENPP1 DMP1
15 primary hyperparathyroidism 29.9 PTH KL FGF23 CYP27B1
16 calciphylaxis 29.8 PTH FGF23
17 hypocalcemia, autosomal dominant 1 29.8 PTH FGF23 CYP27B1
18 dentin dysplasia 29.7 MEPE DMP1
19 oncogenic osteomalacia 29.7 SFRP4 PTH PHEX MEPE FGF23 DMP1
20 fanconi syndrome 29.5 SLC34A3 PTH PHEX FGF23 EMP1
21 blount's disease 29.4 SLC34A3 FGF23 EMP1
22 hyperphosphatemia 29.4 SFRP4 PTH PHEX KL GALNT3 FGF23
23 raine syndrome 29.4 FGF23 FAM20C DMP1
24 secondary hyperparathyroidism 29.4 PTH PHEX KL FGF23 CYP27B1
25 hyperparathyroidism 29.4 PTH PHEX KL FGF23 CYP27B1
26 hypervitaminosis d 29.3 PTH KL GALNT3 FGF23 CYP27B1
27 autosomal recessive hypophosphatemic rickets 29.3 SLC34A3 SFRP4 PTH PHEX MEPE KL
28 nephrolithiasis/osteoporosis, hypophosphatemic, 1 29.3 SLC34A3 PTH KL FGF23
29 osteoporosis 29.1 PTH MEPE KL FGF23 DMP1 CYP27B1
30 nephrocalcinosis 29.1 SLC34A3 PTH PHEX FGF23 FAM20C EMP1
31 chronic kidney disease 29.1 PTH KL FGF23 ENPP1 CYP27B1
32 hypophosphatemic rickets, x-linked recessive 29.0 SLC34A3 SFRP4 PHEX MEPE FGF23 ENPP1
33 schimmelpenning-feuerstein-mims syndrome 28.7 SLC34A3 PHEX MEPE GALNT3 FGF23 ENPP1
34 rickets 28.0 SLC34A3 SFRP4 PTH PHEX MEPE KL
35 enthesopathy 27.9 SLC34A3 PHEX MEPE KL FGF23 ENPP1
36 tumoral calcinosis, hyperphosphatemic, familial, 1 27.8 SLC34A3 PTH PHEX MEPE KL GALNT3
37 osteomalacia 27.6 SLC34A3 SFRP4 PTH PHEX MEPE FGF23
38 dental abscess 27.1 SLC34A3 PTH PHEX MEPE KL GALNT3
39 hypophosphatemia 27.0 SLC34A3 SFRP4 PTH PHEX MEPE KL
40 hypophosphatemic rickets, x-linked dominant 25.6 SLC34A3 SFRP4 PTH PHEX MEPE KL
41 vitamin d hydroxylation-deficient rickets, type 1a 12.7
42 hereditary hypophosphatemic rickets 12.7
43 vitamin d hydroxylation-deficient rickets, type 1b 12.7
44 hypophosphatemic rickets, autosomal recessive, 2 12.6
45 hypophosphatemic rickets, autosomal recessive, 1 12.6
46 vitamin d-dependent rickets, type 2b, with normal vitamin d receptor 12.6
47 hypocalcemic vitamin d-dependent rickets 12.5
48 hypophosphatemic rickets and hyperparathyroidism 12.3
49 hypocalcemic rickets 12.3
50 dent disease 1 12.2

Graphical network of the top 20 diseases related to Hypophosphatemic Rickets, Autosomal Dominant:



Diseases related to Hypophosphatemic Rickets, Autosomal Dominant

Symptoms & Phenotypes for Hypophosphatemic Rickets, Autosomal Dominant

Human phenotypes related to Hypophosphatemic Rickets, Autosomal Dominant:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
2 hypophosphatemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002148
3 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
4 osteomalacia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002749
5 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
6 hyperphosphaturia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003109
7 recurrent fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002757
8 abnormality of the dentition 58 31 occasional (7.5%) Occasional (29-5%) HP:0000164
9 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
10 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
11 abnormal myocardium morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001637
12 spinal canal stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003416
13 abnormality of the respiratory system 58 31 occasional (7.5%) Occasional (29-5%) HP:0002086
14 generalized muscle weakness 31 HP:0003324
15 abnormality of the lower limb 31 HP:0002814
16 elevated alkaline phosphatase 31 HP:0003155
17 renal phosphate wasting 31 HP:0000117
18 hypophosphatemic rickets 31 HP:0004912

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
hypophosphatemia
increased serum alkaline phosphatase
inappropriately normal serum 1,25-dihydroxyvitamin d3
normocalcemia
normal serum parathyroid hormone (pth)

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

Growth Other:
growth retardation (childhood-onset)

Skeletal Limbs:
lower limb deformities (childhood-onset)
pseudofractures (adult-onset)

Skeletal:
osteomalacia
bone pain
rickets (childhood-onset)

Growth Height:
short stature (in patients with childhood-onset)

Head And Neck Teeth:
tooth abscesses

Muscle Soft Tissue:
generalized weakness (adult-onset)

Clinical features from OMIM:

193100

MGI Mouse Phenotypes related to Hypophosphatemic Rickets, Autosomal Dominant:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.21 CYP27B1 DMP1 ENPP1 FAM20C FGF23 FURIN
2 hematopoietic system MP:0005397 10.18 CYP27B1 DMP1 EMP1 FAM20C FGF23 FURIN
3 cardiovascular system MP:0005385 10.16 DMP1 ENPP1 FGF23 FURIN GALNT3 KL
4 craniofacial MP:0005382 10.1 CYP27B1 DMP1 ENPP1 FAM20C GALNT3 KL
5 immune system MP:0005387 10.1 CYP27B1 DMP1 ENPP1 FAM20C FGF23 FURIN
6 digestive/alimentary MP:0005381 10.08 FAM20C FGF23 FURIN GALNT3 KL PHEX
7 homeostasis/metabolism MP:0005376 10.07 CYP27B1 DMP1 ENPP1 FAM20C FGF23 GALNT3
8 endocrine/exocrine gland MP:0005379 10.06 CYP27B1 DMP1 FAM20C FGF23 GALNT3 KL
9 limbs/digits/tail MP:0005371 10 CYP27B1 DMP1 ENPP1 FAM20C FGF23 FURIN
10 renal/urinary system MP:0005367 9.85 CYP27B1 DMP1 ENPP1 FAM20C FGF23 GALNT3
11 reproductive system MP:0005389 9.5 CYP27B1 DMP1 FAM20C FGF23 GALNT3 KL
12 skeleton MP:0005390 9.4 CYP27B1 DMP1 ENPP1 FAM20C FGF23 GALNT3

Drugs & Therapeutics for Hypophosphatemic Rickets, Autosomal Dominant

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

(show top 50) (show all 101)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dinoprostone Approved Phase 4 363-24-6 5280360
2
Calcium carbonate Approved, Investigational Phase 4 471-34-1
3
tannic acid Approved Phase 4 1401-55-4
4
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
5
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
6
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
7
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
8
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 5283731 6433735
9 Micronutrients Phase 4
10 Trace Elements Phase 4
11 Hormones Phase 4
12 Nutrients Phase 4
13 Calcium, Dietary Phase 4
14 Folate Phase 4
15 Vitamin B9 Phase 4
16 Gastrointestinal Agents Phase 4
17 Antacids Phase 4
18 Anti-Ulcer Agents Phase 4
19 Olive Phase 4
20 Anticonvulsants Phase 4
21 Retinol palmitate Phase 4
22 retinol Phase 4
23 Immunologic Factors Phase 4
24 Ergocalciferols Phase 4
25 Vitamin D2 Phase 4
26 Hydroxycholecalciferols Phase 4
27 Immunoglobulins Phase 4
28 Antibodies Phase 4
29 Antibodies, Monoclonal Phase 4
30
Calcium Nutraceutical Phase 4 7440-70-2 271
31
Chromium Approved Phase 3 7440-47-3 27668
32 Insulin, Globin Zinc Phase 3
33 insulin Phase 3
34 Pharmaceutical Solutions Phase 3
35 Orange Approved Phase 2
36
Dextroamphetamine Approved, Illicit Phase 1, Phase 2 51-64-9 5826
37
Amphetamine Approved, Illicit, Investigational Phase 1, Phase 2 300-62-9 5826 3007
38
Dopamine Approved Phase 1, Phase 2 51-61-6, 62-31-7 681
39
Vitamin D Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 1406-16-2
40
Vitamin D3 Approved, Nutraceutical Phase 1, Phase 2 67-97-0 5280795 6221
41
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 5280453 134070
42 Hormone Antagonists Phase 1, Phase 2
43 Immunoglobulins, Intravenous Phase 2
44 Immunoglobulin G Phase 2
45 Vitamins Phase 1, Phase 2
46 Calciferol Phase 1, Phase 2
47 Neurotransmitter Agents Phase 1, Phase 2
48 Dopamine Agents Phase 1, Phase 2
49 Central Nervous System Stimulants Phase 1, Phase 2
50 Adrenergic Agents Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 172)
# Name Status NCT ID Phase Drugs
1 Optimal Initial and Maintenance Doses of Ergocalciferol Supplementation for Treatment of Hypovitaminosis D in Thai Adults: A Randomized, Double-blinded Dose-comparison Study Unknown status NCT03228862 Phase 4 Ergocalciferol
2 A Randomized Control Trial of Vitamin D Prophylaxis in the Prevention of Hypertensive Disorders of Pregnancy Unknown status NCT02920593 Phase 4 Vitamin D3
3 The Immune and Clinical Impacts of Vitamin D in Patients With Chronic Musculo-skeletal Pain Unknown status NCT01417923 Phase 4 vitamin D
4 Vitamin D and Genetics in Nutritional Rickets Completed NCT00949832 Phase 4
5 Role of Calcium And Vitamin D In Nutritional Rickets And It's Management Completed NCT01578434 Phase 4 Vitamin D;Calcium Carbonate;Vitamin D and Calcium
6 A Multicenter, Post-Approval Clinical Study for Asfotase Alfa (Human Recombinant Tissue-nonspecific Alkaline Phosphatase Fusion Protein) Treatment for Patients With Hypophosphatasia (HPP) in Japan Completed NCT02531867 Phase 4
7 Study of the Effect of Calcifediol Supplementation on Left Ventricular Function in Cardiopathic Patients Undergoing Major Orthopedic Surgery. Completed NCT03403933 Phase 4 Didrogyl
8 A Randomized, Double-blind, Placebo-controlled Study on Oral Vitamin D Megadoses - 100 000 or 200 000 IU Vitamin D3 Every Three Months Completed NCT01067898 Phase 4
9 EFFECT OF THREE DIFFERENT DOSES OF ORAL CHOLECALCIFEROL (1000 IU, 3000 IU AND 6000 IU DAILY) ON SERUM 25-HYDROXYVITAMIN D CHANGES AMONG EPILEPSY PATIENTS WITH HYPOVITAMINOSIS D: A RANDOMIZED PROSPECTIVE STUDY Completed NCT02890823 Phase 4 Cholecalciferol
10 Vitamin D Supplementation in Children and Adolescents Seen in the Paediatric Nephrology Service: Study of the Efficacy of Service Usual Care (Cholecalciferol) and Its Impact on Calciuria. Completed NCT02238418 Phase 4 Cholecalciferol vial (100 000 UI)
11 A Single Wintertime Dose of Vitamin D3 to Prevent Winter Decline in Vitamin D Concentrations in Healthy Adults: A Pilot Study Completed NCT01924910 Phase 4
12 Vitamin D Intervention in Infants - Pilot Completed NCT01275885 Phase 4
13 Effect Of Oral Daily Supplementation With 400 IU Vs 200 IU Of Vitamin D In Term Healthy Newborns: A Randomised Control Trial Completed NCT02186028 Phase 4 Vitamin D
14 Does Treatment of Hypovitaminosis D Increase Calcium Absorption? Completed NCT00581828 Phase 4 Vitamin D
15 Prospective Double Blind Multicentre Randomized Trial of Vitamine D Estimating the Profit of a Treatment by Vitamin D3 at the Dose of 100000 UI by Comparison With a Treatment in the Dose of 12 000 UI at Renal Transplanted Patients Completed NCT01431430 Phase 4 Cholecalciferol 100 000 UI;Cholecalciferol 12 000 UI
16 A Randomized, Open-label, Cross-over Study Comparing Two Vitamin D Supplements for Infants: Liquid Versus D-Strips. Completed NCT00846677 Phase 4
17 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
18 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
19 Examining the Effect of Burosumab on Muscle Function Using MR Spectroscopy Recruiting NCT04146935 Phase 4 Burosumab Injection [Crysvita]
20 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 (Stoss Therapy) in Pediatric Patients Undergoing HSCT to Prevent Vitamin D Deficiency and Insufficiency During Transplant Enrolling by invitation NCT03176849 Phase 4
21 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
22 The Effect of Vitamin D Supplementation on the Incidence of Pneumonia in Children in Afghanistan: a Randomized Controlled Trial Unknown status NCT00548379 Phase 3 vitamin D;placebo
23 Efficacy of Vitamin D on the Clinical Management of Pediatric Patients With Asthma in the Hospital General Naval de Alta Especialidad Unknown status NCT02571660 Phase 3 GINA treatment fot asthma +vit.D low supplementation dose;GINA treatment fot asthma +vit.D high supplementation dose
24 Therapeutic Use of Oral Sodium Phosphate (Z-521) in Primary Hypophosphatemic Rickets Completed NCT01237288 Phase 3 Z-521
25 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
26 The Role of Parathyroid Hormone in the Pathogenesis of Skeletal Disease in X-linked Hypophosphatemic Rickets (XLH) Completed NCT00417612 Phase 3 Paricalcitol
27 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
28 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
29 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
30 Vitamin D, Blood Pressure, Lipids, Infection and Depression Completed NCT00960232 Phase 3 Cholecalciferol;placebo
31 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
32 Maternal Oral Vitamin D Supplementation Via Daily or Monthly Regimens and the Effect on Levels of Vitamin D in Human Milk and Infant Serum Completed NCT01240265 Phase 2, Phase 3
33 An Open-Label, Multicenter, Multinational Study of the Safety, Efficacy and Pharmacokinetics of Asfotase Alfa (Human Recombinant Tissue-nonspecific Alkaline Phosphatase Fusion Protein) in Infants and Children ≤ 5 Years of Age With Hypophosphatasia (HPP) Completed NCT01176266 Phase 2, Phase 3 asfotase alfa
34 High Prevalence of Rickets and Subclinical Maternal and Childhood Vitamin D Deficiency in the Middle East: a Randomized Controlled Trial of Prenatal Vitamin D Supplementation to Prevent Vitamin D Deficiency in Mothers and Their Infants Completed NCT00610688 Phase 3 Prenatal Vitamin;Cholecalciferol (Vitamin D3);Cholecalciferol (Vitamin D3)
35 Importance of Dosing Regimen for the Effect of Vitamin D Supplementation Completed NCT03272126 Phase 3 Vitamin D;Placebo
36 The Effect of Vitamin D Supplementation on Chromium Serum Levels and Insulin Resistance Among Overweight Jordanian Women With Polycystic Ovary Syndrome in Irbid Completed NCT02328404 Phase 3 50,000 IU vitamin D3;Placebo
37 Effect of High-dose Cholecalciferol Supplementation on Perioperative Vitamin D Status in Colorectal Surgery Patients Completed NCT01689779 Phase 3 100,000 IU cholecalciferol;Placebo
38 Randomized Clinical Trial of Hypovitaminosis D Treatment in the Neurocritical Care Unit Completed NCT02881957 Phase 2, Phase 3 Cholecalciferol
39 Bio-equivalency Study of the Effects of Vitamin D2 and Vitamin D3 Supplements on 25-hydroxyvitamin D Levels in Exclusively Breast Fed Canadian Infants Completed NCT01190137 Phase 3
40 The Effect of Cholecalciferol Supplementation on Vitamin D Status in Sepsis Completed NCT01896544 Phase 3
41 Phase III Study on the Effect of Vitamin D Supplementation on Indices of Mineral and Musculoskeletal Metabolism and on Parameters of Glucose and Fuel Metabolism in Elderly Subjects Completed NCT01315366 Phase 3
42 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
43 A Phase 3 Long-term Extension Study of KRN23 in Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Active, not recruiting NCT04308096 Phase 3 KRN23
44 Effect of Vitamin D Replacement on Maternal and Neonatal Outcomes: a Randomized Controlled Trial in Pregnant Women With Hypovitaminosis D Active, not recruiting NCT02434380 Phase 3
45 The Effect of Vitamin D Supplementation on Markers of Inflammation in High-Risk Cardiovascular Patients With Low Levels of Serum 25-Hydroxyvitamin D Terminated NCT01012414 Phase 3 paricalcitol;placebo
46 A Randomized Controlled Trial of the Effect of Vitamin D Supplementation on Insulin Sensitivity and Secretion in Subjects With Type 2 Diabetes of Nordic and Sub-Indian Ethnicity . Unknown status NCT00992797 Phase 2 Cholecalciferol
47 Proposition Pour un Traitement Par Hormone de Croissance Des Enfants Atteints de Rachitisme Hypophosphatemique Familial Completed NCT02720770 Phase 1, Phase 2 norditropine simplex
48 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
49 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
50 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

Search NIH Clinical Center for Hypophosphatemic Rickets, Autosomal Dominant

Cochrane evidence based reviews: rickets

Genetic Tests for Hypophosphatemic Rickets, Autosomal Dominant

Genetic tests related to Hypophosphatemic Rickets, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Autosomal Dominant Hypophosphatemic Rickets 29 FGF23

Anatomical Context for Hypophosphatemic Rickets, Autosomal Dominant

MalaCards organs/tissues related to Hypophosphatemic Rickets, Autosomal Dominant:

40
Bone, Heart, Liver, Testes, Kidney, Breast, Eye

Publications for Hypophosphatemic Rickets, Autosomal Dominant

Articles related to Hypophosphatemic Rickets, Autosomal Dominant:

(show top 50) (show all 123)
# Title Authors PMID Year
1
Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder. 56 61 6
9024275 1997
2
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. 6 56
11062477 2000
3
Three DNA markers for hypophosphataemic rickets. 6 56
1353055 1992
4
FGF23 concentrations vary with disease status in autosomal dominant hypophosphatemic rickets. 6 61 54
17227222 2007
5
Loss of renal phosphate wasting in a child with autosomal dominant hypophosphatemic rickets caused by a FGF23 mutation. 6 61 54
11805436 2001
6
Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13. 61 56
9389727 1997
7
Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. 56
9106524 1997
8
Actions of 1,25-dihydroxycholecalciferol in patients with hypophosphatemic, vitamin-D-resistant rickets. 56
4353218 1973
9
Treatment of vitamin D-resistant rickets with 25-hydroxycholecalciferol. 56
4338211 1972
10
Familial hypophosphatemic rickets showing autosomal dominant inheritance. 6
5173181 1971
11
Current concepts. Vitamin D. 56
4309963 1969
12
Growth disturbance in hereditary hypophosphatemia. 56
5925614 1966
13
STUDIES IN HYPOPHOSPHATEMIC VITAMIN D-REFRACTORY OSTEOMALACIA IN ADULTS. 56
14272750 1965
14
A genetic study of familial hypophosphatemia and vitamin D resistant rickets with a review of the literature. 56
13565132 1958
15
An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation. 54 61
19655082 2010
16
Fibroblast growth factor 23 (FGF23) and the kidney. 54 61
19569031 2009
17
Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis. 61 54
18682534 2008
18
Regulation of phosphate homeostasis by the phosphatonins and other novel mediators. 61 54
18288501 2008
19
Emerging role of fibroblast growth factor 23 in a bone-kidney axis regulating systemic phosphate homeostasis and extracellular matrix mineralization. 54 61
17565275 2007
20
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. 61 54
16358215 2006
21
Phosphate diabetes, tubular phosphate reabsorption and phosphatonins. 61 54
16214071 2005
22
Comparative genomics on mammalian Fgf6-Fgf23 locus. 54 61
16012775 2005
23
Fibroblast growth factor 23 and its receptors. 54 61
16076372 2005
24
A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis. 61 54
15687325 2005
25
FGF23 and disorders of phosphate homeostasis. 54 61
15863037 2005
26
Homozygous ablation of fibroblast growth factor-23 results in hyperphosphatemia and impaired skeletogenesis, and reverses hypophosphatemia in Phex-deficient mice. 54 61
15579309 2004
27
Transgenic mice expressing fibroblast growth factor 23 under the control of the alpha1(I) collagen promoter exhibit growth retardation, osteomalacia, and disturbed phosphate homeostasis. 61 54
14988389 2004
28
Inorganic phosphate homeostasis and the role of dietary phosphorus. 61 54
15256067 2004
29
FGF-23 transgenic mice demonstrate hypophosphatemic rickets with reduced expression of sodium phosphate cotransporter type IIa. 61 54
14733920 2004
30
[Different forms of clinical presentation of an autosomal dominant hypophosphatemic rickets caused by a FGF23 mutation in one family]. 61 54
15628294 2004
31
FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. 61 54
12952917 2003
32
FGF23, PHEX, and MEPE regulation of phosphate homeostasis and skeletal mineralization. 61 54
12791601 2003
33
Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. 61 54
12711740 2003
34
Human fibroblast growth factor-23 mutants suppress Na+-dependent phosphate co-transport activity and 1alpha,25-dihydroxyvitamin D3 production. 61 54
12419819 2003
35
FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate. 61 54
11409890 2001
36
The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting. 61 54
11157998 2001
37
Localization of PiUS, a stimulator of cellular phosphate uptake to human chromosome 3p21.3. 61 54
9776982 1998
38
Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria. 61
32311027 2020
39
New Therapies for Hypophosphatemia-Related to FGF23 Excess. 61
32504139 2020
40
Mutation of SGK3, a Novel Regulator of Renal Phosphate Transport, Causes Autosomal Dominant Hypophosphatemic Rickets. 61
31821448 2020
41
Iron replacement ameliorates hypophosphatemia in autosomal dominant hypophosphatemic rickets: A review of the role of iron. 61
31756522 2020
42
Oral Iron Replacement Normalizes Fibroblast Growth Factor 23 in Iron-Deficient Patients With Autosomal Dominant Hypophosphatemic Rickets. 61
31652009 2020
43
Earlier Onset in Autosomal Dominant Hypophosphatemic Rickets of R179 than R176 Mutations in Fibroblast Growth Factor 23: Report of 20 Chinese Cases and Review of the Literature. 61
31486862 2019
44
FGF23 and Associated Disorders of Phosphate Wasting. 61
31599133 2019
45
Regulation of Fibroblast Growth Factor 23 by Iron, EPO, and HIF. 61
31218207 2019
46
Autosomal Dominant Hypophosphatemic Rickets Presenting in a Phenotypically Normal Adult Female. 61
30949368 2019
47
Acute Parathyroid Hormone Injection Increases C-Terminal but Not Intact Fibroblast Growth Factor 23 Levels. 61
28324013 2017
48
Hypophosphatemic rickets and craniosynostosis: a multicenter case series. 61
26824597 2016
49
Posttranslational processing of FGF23 in osteocytes during the osteoblast to osteocyte transition. 61
26746780 2016
50
[Phosphate metabolism and iron deficiency]. 61
26813504 2016

Variations for Hypophosphatemic Rickets, Autosomal Dominant

ClinVar genetic disease variations for Hypophosphatemic Rickets, Autosomal Dominant:

6 (show top 50) (show all 59) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FGF23 NM_020638.3(FGF23):c.527G>A (p.Arg176Gln)SNV Pathogenic 5025 rs104894347 12:4479738-4479738 12:4370572-4370572
2 FGF23 NM_020638.3(FGF23):c.536G>A (p.Arg179Gln)SNV Pathogenic 36135 rs193922702 12:4479729-4479729 12:4370563-4370563
3 FGF23 NM_020638.3(FGF23):c.535C>T (p.Arg179Trp)SNV Pathogenic/Likely pathogenic 5026 rs28937882 12:4479730-4479730 12:4370564-4370564
4 FGF23 NM_020638.3(FGF23):c.162G>C (p.Gln54His)SNV Likely pathogenic 36134 rs193922701 12:4488587-4488587 12:4379421-4379421
5 FGF23 NM_020638.3(FGF23):c.249G>A (p.Val83=)SNV Conflicting interpretations of pathogenicity 882162 12:4481826-4481826 12:4372660-4372660
6 FGF23 NM_020638.3(FGF23):c.138A>G (p.Thr46=)SNV Conflicting interpretations of pathogenicity 882164 12:4488611-4488611 12:4379445-4379445
7 FGF23 NM_020638.3(FGF23):c.*1772G>ASNV Conflicting interpretations of pathogenicity 308777 rs13312800 12:4477737-4477737 12:4368571-4368571
8 FGF23 NM_020638.3(FGF23):c.*1398T>ASNV Conflicting interpretations of pathogenicity 880634 12:4478111-4478111 12:4368945-4368945
9 FGF23 NM_020638.3(FGF23):c.*235C>TSNV Conflicting interpretations of pathogenicity 882110 12:4479274-4479274 12:4370108-4370108
10 FGF23 NM_020638.3(FGF23):c.*1886C>ASNV Conflicting interpretations of pathogenicity 308775 rs183802802 12:4477623-4477623 12:4368457-4368457
11 FGF23 NM_020638.3(FGF23):c.*1803C>TSNV Conflicting interpretations of pathogenicity 308776 rs13312801 12:4477706-4477706 12:4368540-4368540
12 FGF23 NM_020638.3(FGF23):c.551A>G (p.Asp184Gly)SNV Conflicting interpretations of pathogenicity 308805 rs144925325 12:4479714-4479714 12:4370548-4370548
13 FGF23 NM_020638.3(FGF23):c.331G>A (p.Glu111Lys)SNV Conflicting interpretations of pathogenicity 308807 rs765478662 12:4479934-4479934 12:4370768-4370768
14 FGF23 NM_020638.3(FGF23):c.515C>T (p.Pro172Leu)SNV Conflicting interpretations of pathogenicity 308806 rs573322878 12:4479750-4479750 12:4370584-4370584
15 FGF23 NM_020638.3(FGF23):c.57G>A (p.Met19Ile)SNV Uncertain significance 308808 rs766148024 12:4488692-4488692 12:4379526-4379526
16 FGF23 NM_020638.3(FGF23):c.-55C>ASNV Uncertain significance 308810 rs760895385 12:4488803-4488803 12:4379637-4379637
17 FGF23 NM_020638.3(FGF23):c.*1925A>GSNV Uncertain significance 308774 rs886049397 12:4477584-4477584 12:4368418-4368418
18 FGF23 NM_020638.3(FGF23):c.*278G>CSNV Uncertain significance 308796 rs886049408 12:4479231-4479231 12:4370065-4370065
19 FGF23 NM_020638.3(FGF23):c.*93G>ASNV Uncertain significance 308799 rs886049410 12:4479416-4479416 12:4370250-4370250
20 FGF23 NM_020638.3(FGF23):c.*28C>GSNV Uncertain significance 308801 rs886049411 12:4479481-4479481 12:4370315-4370315
21 FGF23 NM_020638.3(FGF23):c.*1049C>TSNV Uncertain significance 308783 rs13312797 12:4478460-4478460 12:4369294-4369294
22 FGF23 NM_020638.3(FGF23):c.*856C>GSNV Uncertain significance 308785 rs886049399 12:4478653-4478653 12:4369487-4369487
23 FGF23 NM_020638.3(FGF23):c.*664A>TSNV Uncertain significance 308786 rs886049400 12:4478845-4478845 12:4369679-4369679
24 FGF23 NM_020638.3(FGF23):c.-23C>TSNV Uncertain significance 308809 rs769953313 12:4488771-4488771 12:4379605-4379605
25 FGF23 NM_020638.3(FGF23):c.457C>G (p.Pro153Ala)SNV Uncertain significance 880769 12:4479808-4479808 12:4370642-4370642
26 FGF23 NM_020638.3(FGF23):c.414G>C (p.Leu138=)SNV Uncertain significance 880770 12:4479851-4479851 12:4370685-4370685
27 FGF23 NM_020638.3(FGF23):c.*1292C>TSNV Uncertain significance 882047 12:4478217-4478217 12:4369051-4369051
28 FGF23 NM_020638.3(FGF23):c.*1134A>TSNV Uncertain significance 883198 12:4478375-4478375 12:4369209-4369209
29 FGF23 NM_020638.3(FGF23):c.*944G>ASNV Uncertain significance 883995 12:4478565-4478565 12:4369399-4369399
30 FGF23 NM_020638.3(FGF23):c.*784C>TSNV Uncertain significance 883996 12:4478725-4478725 12:4369559-4369559
31 FGF23 NM_020638.3(FGF23):c.*460A>TSNV Uncertain significance 880706 12:4479049-4479049 12:4369883-4369883
32 FGF23 NM_020638.3(FGF23):c.*1548T>GSNV Uncertain significance 883914 12:4477961-4477961 12:4368795-4368795
33 FGF23 NM_020638.3(FGF23):c.*1492T>CSNV Uncertain significance 883915 12:4478017-4478017 12:4368851-4368851
34 FGF23 NM_020638.3(FGF23):c.*1575T>CSNV Uncertain significance 308778 rs562433374 12:4477934-4477934 12:4368768-4368768
35 FGF23 NM_020638.3(FGF23):c.*1352T>CSNV Uncertain significance 308781 rs886049398 12:4478157-4478157 12:4368991-4368991
36 FGF23 NM_020638.3(FGF23):c.*614G>ASNV Uncertain significance 308787 rs886049401 12:4478895-4478895 12:4369729-4369729
37 FGF23 NM_020638.3(FGF23):c.*182G>ASNV Uncertain significance 308797 rs563817819 12:4479327-4479327 12:4370161-4370161
38 FGF23 NM_020638.3(FGF23):c.*181T>CSNV Uncertain significance 308798 rs886049409 12:4479328-4479328 12:4370162-4370162
39 FGF23 NM_020638.3(FGF23):c.60C>T (p.Ser20=)SNV Uncertain significance 882413 12:4488689-4488689 12:4379523-4379523
40 FGF23 NM_020638.3(FGF23):c.-111C>TSNV Uncertain significance 884122 12:4488859-4488859 12:4379693-4379693
41 FGF23 NM_020638.3(FGF23):c.211+12T>GSNV Uncertain significance 882163 12:4488526-4488526 12:4379360-4379360
42 FGF23 NM_020638.3(FGF23):c.*998C>GSNV Likely benign 308784 rs71583766 12:4478511-4478511 12:4369345-4369345
43 FGF23 NM_020638.3(FGF23):c.*388G>ASNV Likely benign 308789 rs13312795 12:4479121-4479121 12:4369955-4369955
44 FGF23 NM_020638.3(FGF23):c.555G>C (p.Ser185=)SNV Benign/Likely benign 308804 rs115283398 12:4479710-4479710 12:4370544-4370544
45 FGF23 NM_020638.3(FGF23):c.*2062A>CSNV Benign/Likely benign 308772 rs558079364 12:4477447-4477447 12:4368281-4368281
46 FGF23 NM_020638.3(FGF23):c.*29C>GSNV Benign/Likely benign 308800 rs71534281 12:4479480-4479480 12:4370314-4370314
47 FGF23 NM_020638.3(FGF23):c.-53C>GSNV Benign/Likely benign 882414 12:4488801-4488801 12:4379635-4379635
48 FGF23 NM_020638.3(FGF23):c.583C>T (p.Pro195Ser)SNV Benign/Likely benign 585858 rs13312793 12:4479682-4479682 12:4370516-4370516
49 FGF23 NM_020638.3(FGF23):c.423G>T (p.Ala141=)SNV Benign 734177 12:4479842-4479842 12:4370676-4370676
50 FGF23 NM_020638.3(FGF23):c.*1316C>ASNV Benign 882046 12:4478193-4478193 12:4369027-4369027

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

73
# Symbol AA change Variation ID SNP ID
1 FGF23 p.Arg176Gln VAR_010717 rs104894347
2 FGF23 p.Arg179Trp VAR_010718 rs28937882
3 FGF23 p.Arg179Gln VAR_010719 rs193922702

Expression for Hypophosphatemic Rickets, Autosomal Dominant

Search GEO for disease gene expression data for Hypophosphatemic Rickets, Autosomal Dominant.

Pathways for Hypophosphatemic Rickets, Autosomal Dominant

Pathways related to Hypophosphatemic Rickets, Autosomal Dominant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.72 KL GALNT3 FGF23
2 11.05 SLC34A3 PTH KL FGF23 CYP27B1
3 10.3 PTH FGF23
4 9.96 PTH CYP27B1

GO Terms for Hypophosphatemic Rickets, Autosomal Dominant

Cellular components related to Hypophosphatemic Rickets, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.7 SFRP4 PTH KL FURIN FGF23 FAM20C
2 extracellular region GO:0005576 9.28 SFRP4 PTH MEPE KL FURIN FGF23
3 endoplasmic reticulum lumen GO:0005788 9.26 MEPE FGF23 FAM20C DMP1

Biological processes related to Hypophosphatemic Rickets, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.88 MEPE FGF23 FAM20C DMP1
2 skeletal system development GO:0001501 9.76 PTH PHEX MEPE FAM20C
3 fibroblast growth factor receptor signaling pathway GO:0008543 9.71 KL GALNT3 FGF23
4 cellular protein metabolic process GO:0044267 9.65 MEPE FURIN FGF23 FAM20C DMP1
5 positive regulation of bone mineralization GO:0030501 9.61 PTH KL FAM20C
6 ATP metabolic process GO:0046034 9.6 FAM20C ENPP1
7 phosphate-containing compound metabolic process GO:0006796 9.59 FGF23 ENPP1
8 negative regulation of bone mineralization GO:0030502 9.58 FGF23 ENPP1
9 calcium ion homeostasis GO:0055074 9.58 PTH KL CYP27B1
10 cellular response to vitamin D GO:0071305 9.57 PHEX FGF23
11 vitamin D metabolic process GO:0042359 9.56 FGF23 CYP27B1
12 cellular response to parathyroid hormone stimulus GO:0071374 9.55 PHEX FGF23
13 regulation of bone mineralization GO:0030500 9.54 FGF23 ENPP1 CYP27B1
14 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.52 KL FGF23
15 response to sodium phosphate GO:1904383 9.51 PHEX FGF23
16 response to vitamin D GO:0033280 9.5 PTH PHEX CYP27B1
17 vitamin D catabolic process GO:0042369 9.49 FGF23 CYP27B1
18 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.48 FGF23 CYP27B1
19 cellular phosphate ion homeostasis GO:0030643 9.33 SLC34A3 FGF23 ENPP1
20 phosphate ion homeostasis GO:0055062 9.13 SFRP4 PTH FGF23
21 biomineral tissue development GO:0031214 9.02 PHEX MEPE FAM20C ENPP1 DMP1

Molecular functions related to Hypophosphatemic Rickets, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor binding GO:0005104 8.62 KL FGF23

Sources for Hypophosphatemic Rickets, Autosomal Dominant

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
Content
Loading form....