Hereditary Hypophosphatemic Rickets (VDRR)

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

Aliases & Classifications for Hereditary Hypophosphatemic Rickets

MalaCards integrated aliases for Hereditary Hypophosphatemic Rickets:

Name: Hereditary Hypophosphatemic Rickets 43
Vitamin D-Resistant Rickets 43 70
Hypophosphatemia 43 70
Hypophosphatemic Rickets, X-Linked Dominant 70
Familial Hypophosphatemic Rickets 70
Vdrr 43


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UMLS 70 C0085682 C0733682 C2363065 more

Summaries for Hereditary Hypophosphatemic Rickets

MedlinePlus Genetics : 43 Hereditary hypophosphatemic rickets is a disorder related to low levels of phosphate in the blood (hypophosphatemia). Phosphate is a mineral that is essential for the normal formation of bones and teeth.In most cases, the signs and symptoms of hereditary hypophosphatemic rickets begin in early childhood. The features of the disorder vary widely, even among affected members of the same family. Mildly affected individuals may have hypophosphatemia without other signs and symptoms. More severely affected children experience slow growth and are shorter than their peers. They develop bone abnormalities that can interfere with movement and cause bone pain. The most noticeable of these abnormalities are bowed legs or knock knees. These abnormalities become apparent with weight-bearing activities such as walking. If untreated, they tend to worsen with time.Other signs and symptoms of hereditary hypophosphatemic rickets can include premature fusion of the skull bones (craniosynostosis) and dental abnormalities. The disorder may also cause abnormal bone growth where ligaments and tendons attach to joints (enthesopathy). In adults, hypophosphatemia is characterized by a softening of the bones known as osteomalacia.Researchers have described several forms of hereditary hypophosphatemic rickets, which are distinguished by their pattern of inheritance and genetic cause. The most common form of the disorder is known as X-linked hypophosphatemic rickets (XLH). It has an X-linked dominant pattern of inheritance. X-linked recessive, autosomal dominant, and autosomal recessive forms of the disorder are much rarer.Another rare type of the disorder is known as hereditary hypophosphatemic rickets with hypercalciuria (HHRH). In addition to hypophosphatemia, this condition is characterized by the excretion of high levels of calcium in the urine (hypercalciuria).

MalaCards based summary : Hereditary Hypophosphatemic Rickets, also known as vitamin d-resistant rickets, is related to hypophosphatemic rickets with hypercalciuria, hereditary and nephrolithiasis/osteoporosis, hypophosphatemic, 1, and has symptoms including arthralgia and bone pain. An important gene associated with Hereditary Hypophosphatemic Rickets is SLC34A3 (Solute Carrier Family 34 Member 3), and among its related pathways/superpathways are Parathyroid hormone synthesis, secretion and action and Mineral absorption. The drugs Iron isomaltoside 1000 and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and myeloid, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Hereditary Hypophosphatemic Rickets

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 Hereditary Hypophosphatemic Rickets via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 392)
# Related Disease Score Top Affiliating Genes
1 hypophosphatemic rickets with hypercalciuria, hereditary 32.4 SLC34A3 SLC34A1
2 nephrolithiasis/osteoporosis, hypophosphatemic, 1 31.5 SLC34A3 SLC34A1
3 rickets 30.9 SLC34A3 SLC34A1
4 hypophosphatemic rickets, x-linked recessive 30.9 SLC34A3 SLC34A1
5 dent disease 1 30.9 SLC34A3 SLC34A1
6 hypophosphatemia 30.7 SLC34A3 SLC34A1
7 nephrolithiasis 30.5 SLC34A3 SLC34A1
8 osteomalacia 30.4 SLC34A3 SLC34A1
9 nephrocalcinosis 30.1 SLC34A3 SLC34A1
10 hypophosphatemic rickets, x-linked dominant 29.8 SLC34A3 SLC34A1
11 fanconi syndrome 29.8 SLC34A3 SLC34A1
12 hypophosphatemic rickets, autosomal dominant 29.8 SLC34A3 SLC34A1
13 bartter disease 29.3 SLC34A3 SLC34A1
14 epidermal nevus vitamin d resistant rickets 11.5
15 hypophosphatemic rickets, autosomal recessive, 1 11.4
16 dentin dysplasia, type i 11.3
17 cutaneous-skeletal hypophosphatemia syndrome 11.3
18 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.2
19 hypophosphatemic rickets, autosomal recessive, 2 11.2
20 oncogenic osteomalacia 11.1
21 hypophosphatemia, renal, with intracerebral calcifications 11.1
22 vitamin d-dependent rickets 11.0
23 metaphyseal chondrodysplasia, jansen type 11.0
24 vitamin d hydroxylation-deficient rickets, type 1a 11.0
25 vitamin d hydroxylation-deficient rickets, type 1b 11.0
26 panostotic fibrous dysplasia 10.9
27 dominant hypophosphatemia with nephrolithiasis or osteoporosis 10.9
28 autosomal recessive hypophosphatemic rickets 10.9
29 thyrotoxic periodic paralysis 10.9
30 exostoses, multiple, type i 10.8
31 fanconi renotubular syndrome 1 10.8
32 tumoral calcinosis, hyperphosphatemic, familial, 1 10.8
33 lowe oculocerebrorenal syndrome 10.8
34 nephrolithiasis/osteoporosis, hypophosphatemic, 2 10.8
35 tumoral calcinosis, hyperphosphatemic, familial, 2 10.8
36 tumoral calcinosis, hyperphosphatemic, familial, 3 10.8
37 idiopathic infantile hypercalcemia 10.8
38 alopecia 10.8
39 hyperphosphatemia 10.5
40 hypokalemia 10.4
41 respiratory failure 10.4
42 diabetes insipidus, nephrogenic, autosomal 10.4
43 diabetes insipidus 10.4
44 diabetes mellitus, ketosis-prone 10.4
45 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.4
46 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.4
47 hypercalciuria, absorptive, 2 10.4
48 autosomal recessive disease 10.4
49 bone disease 10.4
50 anorexia nervosa 10.3

Graphical network of the top 20 diseases related to Hereditary Hypophosphatemic Rickets:

Diseases related to Hereditary Hypophosphatemic Rickets

Symptoms & Phenotypes for Hereditary Hypophosphatemic Rickets

UMLS symptoms related to Hereditary Hypophosphatemic Rickets:

arthralgia; bone pain

GenomeRNAi Phenotypes related to Hereditary Hypophosphatemic Rickets according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.4 SLC34A3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.4 SLC34A3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-112 9.4 SLC34A3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.4 SLC34A3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.4 SLC34A1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.4 SLC34A1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.4 SLC34A1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.4 SLC34A3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.4 SLC34A3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.4 SLC34A3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.4 SLC34A3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.4 SLC34A3

Drugs & Therapeutics for Hereditary Hypophosphatemic Rickets

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

(show top 50) (show all 57)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Iron isomaltoside 1000 Approved, Investigational Phase 4 1370654-58-2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
3 Hematinics Phase 4
4 Calciferol Phase 4
5 Vitamins Phase 4
6 Micronutrients Phase 4
7 Trace Elements Phase 4
8 Nutrients Phase 4
9 Immunologic Factors Phase 4
10 Vasoconstrictor Agents Phase 4
11 Anti-Bacterial Agents Phase 4
12 Antibiotics, Antitubercular Phase 4
13 Anti-Infective Agents Phase 4
Parathyroid hormone Approved, Investigational Phase 3 9002-64-6
15 Pharmaceutical Solutions Phase 2
16 Protective Agents Phase 2
17 potassium phosphate Phase 2
18 Hormones Phase 1, Phase 2
19 Hormone Antagonists Phase 1, Phase 2
20 Anticoagulants Phase 2
21 Dextrans Phase 2
22 Plasma Substitutes Phase 2
23 Blood Substitutes Phase 2
24 Iron-Dextran Complex Phase 2
Cinacalcet Approved Phase 1 226256-56-0 156419
Sorafenib Approved, Investigational Phase 1 284461-73-0 216239 406563
27 Mitogens Phase 1
28 Protein Kinase Inhibitors Phase 1
tannic acid Approved 1401-55-4
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
Sevelamer Approved 52757-95-6
Calcium acetate Approved, Investigational Early Phase 1 62-54-4
Salmon calcitonin Approved, Investigational 47931-85-1 16129616
Ferrous gluconate Approved 299-29-6
Sodium citrate Approved, Investigational 68-04-2
Iron Approved 7439-89-6 23925 29936
Alfacalcidol Approved, Nutraceutical 41294-56-8 5282181
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
Calcitonin gene-related peptide Investigational 83652-28-2
40 Hydroxycholecalciferols
41 Chelating Agents Early Phase 1
42 Vasodilator Agents
43 Katacalcin
44 calcitonin
45 Neurotransmitter Agents
46 Respiratory System Agents
47 Cholinergic Agents
48 Methacholine Chloride
49 Muscarinic Agonists
50 Iron Supplement

Interventional clinical trials:

(show top 50) (show all 70)
# Name Status NCT ID Phase Drugs
1 A Randomized, Double-blinded, Comparative Trial Comparing the Incidence of Hypophosphatemia in Relation to Repeated Treatment Courses of Iron Isomaltoside and Ferric Carboxymaltose in Subjects With Iron Deficiency Anaemia Due to Inflammatory Bowel Disease Completed NCT03466983 Phase 4 Iron Isomaltoside;Ferric Carboxymaltose
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 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
4 Examining the Effect of Burosumab on Muscle Function Using MR Spectroscopy Recruiting NCT04146935 Phase 4 Burosumab Injection [Crysvita]
5 Hupophosphatemia Levels Deleteriously Affect Outcome of Patients With Severe Sepsis/Septic Shock Admitted to ICU Not yet recruiting NCT04519762 Phase 4 Glycophos (Sodium Glycerophosphate);Antibiotics;Inotropes
6 A Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of Using Cinacalcet to Correct Hypercalcemia in Renal Transplant Recipients With Autonomous Hyperparathyroidism Completed NCT00975000 Phase 3 Cinacalcet;Placebo
7 The Role of Parathyroid Hormone in the Pathogenesis of Skeletal Disease in X-linked Hypophosphatemic Rickets (XLH) Completed NCT00417612 Phase 3 Paricalcitol
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 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
10 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
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 Therapeutic Use of Oral Sodium Phosphate (Z-521) in Primary Hypophosphatemic Rickets Completed NCT01237288 Phase 3 Z-521
13 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
14 A Randomized, Open-label, Comparative Trial Comparing the Incidence of Hypophosphatemia in Relation to Treatment With Iron Isomaltoside/Ferric Derisomaltose and Ferric Carboxymaltose in Subjects With Iron Deficiency Anaemia (Phosphare-IDA-04) Completed NCT03238911 Phase 3 Iron isomaltoside/ferric derisomaltose;Ferric carboxymaltose
15 A Randomized, Open-label, Comparative Trial Comparing the Incidence of Hypophosphatemia in Relation to Treatment With Iron Isomaltoside/Ferric Derisomaltose and Ferric Carboxymaltose in Subjects With Iron Deficiency Anaemia (Phosphare-IDA-05) Completed NCT03237065 Phase 3 Iron isomaltoside/ferric derisomaltose;Ferric carboxymaltose
16 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
17 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
18 A Phase 3 Long-term Extension Study of KRN23 in Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Active, not recruiting NCT04308096 Phase 3 KRN23
19 Oral Potassium Acid Phosphate Supplementation for Preterm Neonates; a Comparison of Oral Thin Films and Standard Oral Therapy. Unknown status NCT01676844 Phase 2 Oral thin film therapy (Potassium acid phosphate oral thin films);Standard therapy (Potassium acid phosphate oral solution)
20 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
21 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
22 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
23 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
24 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
25 Proposition Pour un Traitement Par Hormone de Croissance Des Enfants Atteints de Rachitisme Hypophosphatemique Familial Completed NCT02720770 Phase 1, Phase 2 norditropine simplex
26 A Randomized, Controlled Study to Investigate the Safety and Explore the Mechanism of Hypophosphatemia With Intravenous Ferric Carboxymaltose (FCM) Versus Iron Dextran in Women With Iron Deficiency Secondary to Heavy Uterine Bleeding Completed NCT01307007 Phase 2 Ferric Carboxymaltose (FCM);Iron Dextran Injection
27 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
28 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
29 Effect of Calcimimetic (Cinacalcet) on Phosphate-Induced Hyperparathyroidism in Children With Hypophosphatemic Rickets Completed NCT00195936 Phase 1 Cinacalcet
30 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
31 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
32 Mechanistic Evaluations on Sorafenib Induced Hypophosphatemia in Patients With Advanced Renal Cell Carcinoma Terminated NCT00622479 Phase 1 Sorafenib (Nexavar, BAY43-9006)
33 Open-label Dose-titration Study of the Tolerability and Efficacy of Cinacalcet to Treat Fibroblast Growth Factor 23 (FGF23)-Mediated Hypophosphatemia Terminated NCT01748812 Phase 1 Osteomalacia
34 Using Cinacalcet to Treat the Hypophosphatemia of Early Kidney Transplant Unknown status NCT01011114 Cinacalcet;Placebo
35 Hypophosphatemic Rickets in Norway Unknown status NCT01057186 Sevelamer
36 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
37 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Unknown status NCT01660308
38 Study of the Effect of the Consumption of Ferric Hydroxide Adipate on Urinary Phosphorus. Completed NCT01991574 Early Phase 1 Calcium acetate;Placebo
39 The Prevention of Refeeding Syndrome by a Diet Regime in Patient With Head and Neck Cancer Completed NCT01845922
40 Calcitonin for Treating X-linked Hypophosphatemia Completed NCT01652573 nasal salmon calcitonin;Saline Nasal Spray Placebo
41 X-linked Hypophosphatemia and Carbohydrate and Lipid Metabolism: a Role for FGF21? Completed NCT03596554
42 A Natural History Study of Patients With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Completed NCT03478839
43 Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent Patients Completed NCT01578824
44 Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Completed NCT02233322
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 Completed NCT04372446
46 Milk Products in the Treatment of Hypophosphatemic Rickets: A Randomised Crossover Trial Completed NCT03348644
47 Hypophosphatemia Deleteriously Affects Outcome of Septic Shock Patients Admitted to ICU Completed NCT04455113
48 Evaluation of Hypophosphatemia as a Predictor of Sepsis in Surgical Resuscitation Units. Completed NCT03740802
49 Evaluation of Hypophosphatemia as a Predictive Marker of Mortality During Sepsis in ICU Completed NCT03529058
50 Hypophosphatemia in the ICU - A One-day Point Prevalence Survey Completed NCT04201899

Search NIH Clinical Center for Hereditary Hypophosphatemic Rickets

Inferred drug relations via UMLS 70 / NDF-RT 51 :

Dibasic potassium phosphate
dibasic sodium phosphate heptahydrate
Monobasic potassium phosphate
potassium phosphate
sodium phosphate
Sodium Phosphate, Dibasic
Sodium Phosphate, Monobasic
Tribasic Sodium Phosphate

Genetic Tests for Hereditary Hypophosphatemic Rickets

Anatomical Context for Hereditary Hypophosphatemic Rickets

MalaCards organs/tissues related to Hereditary Hypophosphatemic Rickets:

Bone, Kidney, Myeloid, Heart, Liver, Bone Marrow, Lung

Publications for Hereditary Hypophosphatemic Rickets

Articles related to Hereditary Hypophosphatemic Rickets:

(show top 50) (show all 626)
# Title Authors PMID Year
Congenital Conditions of Hypophosphatemia Expressed in Adults. 61
32409880 2021
Probing the Scope and Mechanisms of Calcitriol Actions Using Genetically Modified Mouse Models. 61
33553990 2021
An Overview of Rickets in Children. 61
32647755 2020
Tumor-induced rickets-osteomalacia: an enigma. 61
32681779 2020
Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria. 61
32311027 2020
[Clinical feature and variant analysis of a case with hereditary hypophosphatemic rickets with hypercalciuria]. 61
32472541 2020
Hereditary vitamin D-resistant rickets: a report of four cases with two novel variants in the VDR gene and successful use of intermittent intravenous calcium via a peripheral route. 61
32049653 2020
A Novel Presentation of Metaphyseal Chondrodysplasia, Schmid Type with Factor VII Deficiency. 61
32328382 2020
Sclerostin Antibody Treatment Increases Bone Mass and Normalizes Circulating Phosphate Levels in Growing Hyp Mice. 61
31743490 2020
Cinacalcet treatment experience in hereditary vitamin D resistant rickets. 61
31926093 2020
Role of sodium-dependent Pi transporter/Npt2c on Pi homeostasis in klotho knockout mice different properties between juvenile and adult stages. 61
32026654 2020
Description of a novel SLC34A3.c.671delT mutation causing hereditary hypophosphatemic rickets with hypercalciuria in two adolescent boys and response to recombinant human growth hormone. 61
32963591 2020
Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) Presenting with Genu Valgum Deformity: Treatment with Phosphate Supplementation and Surgical Correction. 61
32695531 2020
Rickets with hypophosphatemia, hypokalemia and normal anion gap metabolic acidosis: not always an easy diagnosis. 61
31969415 2020
Vitamin D-Resistant Rickets Diagnostics and Treatment Challenges at Muhimbili National Hospital, Tanzania. 61
32082647 2020
Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting. 61
30798342 2019
Description of 5 Novel SLC34A3/NPT2c Mutations Causing Hereditary Hypophosphatemic Rickets With Hypercalciuria. 61
31440709 2019
Bone and heart health in chronic kidney disease: role of dentin matrix protein 1. 61
31107286 2019
Phosphate matters when investigating hypercalcemia: a mutation in SLC34A3 causing HHRH 61
31352694 2019
Detecting reasons for recurrent deformity in treatment of patients with vitamin D-resistant rickets using diagnostic imaging. 61
30976148 2019
Experience of intravenous calcium treatment and long-term responses to treatment in a patient with hereditary vitamin D-resistant rickets resulting from a novel mutation. 61
31141481 2019
Vitamin D Receptor Signaling Regulates Craniofacial Cartilage Development in Zebrafish. 61
31234506 2019
Transcriptomic Response to 1,25-Dihydroxyvitamin D in Human Fibroblasts with or without a Functional Vitamin D Receptor (VDR): Novel Target Genes and Insights into VDR Basal Transcriptional Activity. 61
30959822 2019
Renal phosphate handling and inherited disorders of phosphate reabsorption: an update. 61
29275531 2019
Analysis of opossum kidney NaPi-IIc sodium-dependent phosphate transporter to understand Pi handling in human kidney. 61
30317447 2019
Familial Vitamin D-dependent rickets Type 2A: A report of two cases with alopecia and oral manifestations. 61
30967742 2019
A novel PHEX mutation associated with vitamin D-resistant rickets. 61
30792871 2019
Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy. 61
30109410 2019
Characteristic Diagnostic Clues of Metatropic Dysplasia: The Lumbothoracic Humpback with Dumbbell Appearance of the Long Bones. 61
30984522 2018
SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria 61
29809158 2018
Impaired vitamin D sensitivity. 61
30484666 2018
Prevention & control of fluorosis & linked disorders: Developments in the 21st Century - Reaching out to patients in the community & hospital settings for recovery. 61
30666981 2018
Fibroblast growth factor 23 does not directly influence skeletal muscle cell proliferation and differentiation or ex vivo muscle contractility. 61
29558205 2018
[Analysis of PHEX gene mutations in three pedigrees affected with hypophosphatemic rickets]. 61
30298486 2018
Hypocalcaemic and hypophosphatemic rickets. 61
30086869 2018
Analysis of 2 novel mutations of PHEX gene inducing X-linked dominant hypophosphatemia rickets in 2 families: Two case reports. 61
30075510 2018
Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation. 61
29949513 2018
Genetic analysis of three families with X-linked dominant hypophosphatemic rickets. 61
29858904 2018
Rare, genetically conditioned forms of rickets: Differential diagnosis and advances in diagnostics and treatment. 61
29417983 2018
Genetics of Refractory Rickets: Identification of Novel PHEX Mutations in Indian Patients and a Literature Update. 61
29707405 2018
The When, What & How of Measuring Vitamin D Metabolism in Clinical Medicine. 61
29652819 2018
The impact of VDR expression and regulation in vivo. 61
28602960 2018
Occult phosphaturic mesenchymal tumour of femur cortex causing oncogenic osteomalacia - diagnostic challenges and clinical outcomes. 61
29442350 2018
X-linked vitamin D-resistant rickets: 12 years of follow-up. 61
30123412 2018
Vitamin D-Resistant Rickets and Cinacalcet-One More Favorable Experience. 61
30555810 2018
Tooth Development Associated with Mutations in Hereditary Vitamin D-Resistant Rickets. 61
30938651 2018
Genetic Causes of Rickets. 61
29280738 2017
Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia. 61
29127362 2017
Vitamin D resistant rickets: What an anesthesiologist should know. 61
29416255 2017
Structural aspects of Vitamin D endocrinology. 61
28257826 2017

Variations for Hereditary Hypophosphatemic Rickets

Expression for Hereditary Hypophosphatemic Rickets

Search GEO for disease gene expression data for Hereditary Hypophosphatemic Rickets.

Pathways for Hereditary Hypophosphatemic Rickets

Pathways related to Hereditary Hypophosphatemic Rickets according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.98 SLC34A3 SLC34A1
2 10.39 SLC34A3 SLC34A1

GO Terms for Hereditary Hypophosphatemic Rickets

Cellular components related to Hereditary Hypophosphatemic Rickets according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.26 SLC34A3 SLC34A1
2 vesicle GO:0031982 9.16 SLC34A3 SLC34A1
3 brush border GO:0005903 8.96 SLC34A3 SLC34A1
4 brush border membrane GO:0031526 8.62 SLC34A3 SLC34A1

Biological processes related to Hereditary Hypophosphatemic Rickets according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.37 SLC34A3 SLC34A1
2 sodium ion transport GO:0006814 9.32 SLC34A3 SLC34A1
3 sodium ion transmembrane transport GO:0035725 9.26 SLC34A3 SLC34A1
4 phosphate ion transport GO:0006817 9.16 SLC34A3 SLC34A1
5 cellular phosphate ion homeostasis GO:0030643 8.96 SLC34A3 SLC34A1
6 sodium-dependent phosphate transport GO:0044341 8.62 SLC34A3 SLC34A1

Molecular functions related to Hereditary Hypophosphatemic Rickets according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 8.96 SLC34A3 SLC34A1
2 sodium:phosphate symporter activity GO:0005436 8.62 SLC34A3 SLC34A1

Sources for Hereditary Hypophosphatemic Rickets

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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