MCID: HRD086
MIFTS: 39

Hereditary Hypophosphatemic Rickets

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

Aliases & Classifications for Hereditary Hypophosphatemic Rickets

MalaCards integrated aliases for Hereditary Hypophosphatemic Rickets:

Name: Hereditary Hypophosphatemic Rickets 25
Vitamin D-Resistant Rickets 25 73
Hypophosphatemia 25 73
Hypophosphatemic Rickets, X-Linked Dominant 73
Familial Hypophosphatemic Rickets 73
Vdrr 25

Classifications:



External Ids:

Summaries for Hereditary Hypophosphatemic Rickets

Genetics Home Reference : 25 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.

MalaCards based summary : Hereditary Hypophosphatemic Rickets, also known as vitamin d-resistant rickets, is related to hypophosphatemia and hypophosphatemic rickets with hypercalciuria, hereditary, 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 is Parathyroid hormone synthesis, secretion and action. The drugs Vitamin D and Ergocalciferol have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and heart, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Hereditary Hypophosphatemic Rickets

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.17 SLC34A1 SLC34A3
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.17 SLC34A3
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.17 SLC34A3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.17 SLC34A1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.17 SLC34A3
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.17 SLC34A3

Drugs & Therapeutics for Hereditary Hypophosphatemic Rickets

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

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

Interventional clinical trials:

(show all 33)
# Name Status NCT ID Phase Drugs
1 Therapeutic Use of Oral Sodium Phosphate (Z-521) in Primary Hypophosphatemic Rickets Completed NCT01237288 Phase 3 Z-521
2 Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets Completed NCT00417612 Phase 3 Paricalcitol
3 Open Label Trial Assessing Safety and Efficacy of Burosumab (KRN23), in a Patient With ENS and Hypophosphatemic Rickets Recruiting NCT03581591 Phase 3
4 A Study of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Active, not recruiting NCT03233126 Phase 3 KRN23
5 Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02537431 Phase 3
6 Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02526160 Phase 3
7 Efficacy and Safety of KRN23 Versus Oral Phosphate and Active Vitamin D Treatment in Pediatric Patients With X Linked Hypophosphatemia (XLH) Active, not recruiting NCT02915705 Phase 3 oral phosphate;active vitamin D
8 Growth Hormone Treatment in Children With Hypophosphatemic Rickets Completed NCT02720770 Phase 1, Phase 2 norditropine simplex
9 An Extension Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01571596 Phase 1, Phase 2 KRN23
10 A Repeated Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01340482 Phase 1, Phase 2 KRN23
11 Study of KRN23, a Recombinant Fully Human Monoclonal Antibody Against Fibroblast Growth Factor 23 (FGF23), in Pediatric Subjects With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02163577 Phase 2
12 Long-Term Extension Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH) Active, not recruiting NCT02312687 Phase 2
13 Study of the Safety, Pharmacodynamics (PD) and Efficacy of KRN23 in Children From 1 to 4 Years Old With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02750618 Phase 2
14 Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic Rickets Unknown status NCT00195936 Phase 1 Cinacalcet
15 Effects of GH on Body Proportions and Final Height in X-Linked Hypophosphatemic Rickets Unknown status NCT00473187 Phase 1 somatropin
16 A Study of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/Osteomalacia Completed NCT02181764 Phase 1 KRN23
17 A Study of KRN23 in X-linked Hypophosphatemia Completed NCT00830674 Phase 1 Placebo;KRN23
18 Cinacalcet for Fibroblast Growth Factor 23 (FGF23)-Mediated Hypophosphatemia (Hypophosphatemic Rickets) Terminated NCT01748812 Phase 1 Osteomalacia
19 Calcimimetics in Hypophosphatemic Rickets Unknown status NCT00844740 Not Applicable Cinacalcet
20 The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone Formers Unknown status NCT01526304
21 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Unknown status NCT01660308
22 Milk Products in the Treatment of Hypophosphatemic Rickets Completed NCT03348644 Not Applicable
23 Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent Patients Completed NCT01578824 Not Applicable
24 Calcitonin for Treating X-linked Hypophosphatemia Completed NCT01652573 Not Applicable nasal salmon calcitonin;Saline Nasal Spray Placebo
25 Serum FGF-23 and Vitamin D Deficiency Completed NCT01102751
26 Magnesium Treatment on Vitamin D Metabolism in Participants Completed Personalized Prevention of Colorectal Cancer Trial Completed NCT03265483 Not Applicable
27 Effect of Vitamin D3 Supplementation in Children From 12 to 30 Months of Age. Completed NCT03544671 Not Applicable
28 Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Project. Recruiting NCT02233322 Not Applicable
29 Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Recruiting NCT03478839
30 Study of the Diagnostic Value of Stable Calcium Isotope Profiling in Bone and Calcium Disorders Recruiting NCT02252679
31 Hypophosphatemic Rickets in Norway Active, not recruiting NCT01057186 Sevelamer
32 Registry for Patients With X-linked Hypophosphatemia Not yet recruiting NCT03193476
33 FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP) Not yet recruiting NCT03489993

Search NIH Clinical Center for Hereditary Hypophosphatemic Rickets

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Hereditary Hypophosphatemic Rickets

Anatomical Context for Hereditary Hypophosphatemic Rickets

MalaCards organs/tissues related to Hereditary Hypophosphatemic Rickets:

41
Bone, Kidney, Heart

Publications for Hereditary Hypophosphatemic Rickets

Articles related to Hereditary Hypophosphatemic Rickets:

(show top 50) (show all 110)
# Title Authors Year
1
SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria and Review of Reported Cases. ( 29809158 )
2018
2
Vitamin D resistant rickets: What an anesthesiologist should know. ( 29416255 )
2017
3
Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes. ( 28301319 )
2017
4
Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings. ( 29201067 )
2017
5
Alopecia in patients with vitamin D-resistant rickets type-II. ( 28538904 )
2017
6
Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia. ( 29127362 )
2017
7
Novel screening system for high-affinity ligand of heredity vitamin D-resistant rickets-associated vitamin D receptor mutant R274L using bioluminescent sensor. ( 27864003 )
2016
8
Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c. ( 27939817 )
2016
9
Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets. ( 27408766 )
2016
10
Extensive ossification of the paraspinal ligaments in a patient with vitamin D-resistant rickets: Case report with literature review. ( 27611796 )
2016
11
Successful intermittent intravenous calcium treatment via the peripheral route in a patient with hereditary vitamin D-resistant rickets and alopecia. ( 25573344 )
2015
12
Results of deformity correction in children with X-linked hereditary hypophosphatemic rickets by external fixation or combined technique. ( 26150332 )
2015
13
Periodontal diseases in patients with vitamin d-resistant rickets. ( 25802443 )
2015
14
Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese. ( 26422470 )
2015
15
Bilateral pseudarthrosis of the femoral neck in a 25-year-old male with hereditary hypophosphatemic rickets. ( 24955267 )
2014
16
A mutated vitamin D receptor in hereditary vitamin D-resistant rickets prevents induction of bronchial hyperreactivity and inflammation. ( 24885630 )
2014
17
Intronic deletions in the SLC34A3 gene: A cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria. ( 24176905 )
2014
18
Hereditary vitamin D-resistant rickets presenting as alopecia. ( 24917549 )
2014
19
A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient. ( 24246249 )
2014
20
A case report of nephrogenic diabetes insipidus with idiopathic Fanconi syndrome in a child who presented with vitamin D resistant rickets. ( 24821875 )
2014
21
Therapeutic use of oral sodium phosphate (phosribbon(Ar) combination granules) in hereditary hypophosphatemic rickets. ( 24532956 )
2014
22
Identification of a novel nonsense mutation in the ligand-binding domain of the vitamin d receptor gene and clinical description of two greek patients with hereditary vitamin d-resistant rickets and alopecia. ( 25060608 )
2014
23
The role of vitamin D receptor in innate and adaptive immunity: a study in hereditary vitamin D-resistant rickets patients. ( 23482605 )
2013
24
Familial vitamin D resistant rickets: End-organ resistance to 1,25-dihydroxyvitamin D. ( 24251166 )
2013
25
Crystal structures of hereditary vitamin D-resistant rickets-associated vitamin D receptor mutants R270L and W282R bound to 1,25-dihydroxyvitamin D3 and synthetic ligands. ( 23944708 )
2013
26
Pathologic femur fracture due to a brown tumor in a patient with secondary hyperparathyroidism and vitamin D-resistant rickets. ( 22959760 )
2013
27
Oral manifestations of vitamin D resistant rickets in orthopantomogram. ( 23486344 )
2013
28
Enteral calcium infusion used successfully as treatment for a patient with hereditary vitamin D resistant rickets (HVDRR) without alopecia: a novel mutation. ( 23026218 )
2013
29
SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria. ( 22672866 )
2012
30
Different mechanisms of intestinal calcium absorption at different life stages: therapeutic implications and long-term responses to treatment in patients with hereditary vitamin D-resistant rickets. ( 22965178 )
2012
31
Endodontic management in a patient with vitamin D-resistant Rickets. ( 22244648 )
2012
32
Hereditary hypophosphatemic rickets with hypercalciuria: case report. ( 22806288 )
2012
33
Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria. ( 22159077 )
2012
34
Paravertebral ligament ossification in vitamin D-resistant rickets: incidence, clinical significance, and genetic evaluation. ( 22261628 )
2012
35
The renin-angiotensin system, blood pressure, and heart structure in patients with hereditary vitamin D-resistance rickets (HVDRR). ( 21590741 )
2011
36
Report of two unrelated patients with hereditary vitamin D resistant rickets due to the same novel mutation in the vitamin D receptor. ( 22145479 )
2011
37
Calcium absorption, kinetics, bone density, and bone structure in patients with hereditary vitamin D-resistant rickets. ( 21917877 )
2011
38
Nephrogenic diabetes insipidus with idiopathic Fanconi's syndrome in a child who presented as vitamin D resistant rickets. ( 22029006 )
2011
39
Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor. ( 21812032 )
2011
40
Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation. ( 21344632 )
2011
41
Idiopathic Fanconi's syndrome with nephrogenic diabetes insipidus in a child who presented as vitamin D resistant rickets--a case report and review of literature. ( 22145469 )
2011
42
Novel compound heterozygous mutations in the vitamin D receptor gene in a Korean girl with hereditary vitamin D resistant rickets. ( 21860566 )
2011
43
Multiple nonvital teeth. Vitamin D-resistant rickets. ( 21062724 )
2010
44
Crystal structure of hereditary vitamin D-resistant rickets--associated mutant H305Q of vitamin D nuclear receptor bound to its natural ligand. ( 20403435 )
2010
45
Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report. ( 20074341 )
2010
46
Dental arch dimensions in children with hypophosphataemic Vitamin D resistant rickets. ( 20403302 )
2010
47
Hereditary vitamin D resistant rickets: identification of a novel splice site mutation in the vitamin D receptor gene and successful treatment with oral calcium therapy. ( 19523546 )
2009
48
Familial hypophosphatemic vitamin D-resistant rickets--prevention of spontaneous dental abscesses on primary teeth: a case report. ( 19201216 )
2009
49
Surgical treatment of multiple spinal canal stenoses associated with vitamin D-resistant rickets. ( 19264492 )
2009
50
The journey from vitamin D-resistant rickets to the regulation of renal phosphate transport. ( 19808223 )
2009

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 10.65 SLC34A1 SLC34A3

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 SLC34A1 SLC34A3
2 vesicle GO:0031982 9.16 SLC34A1 SLC34A3
3 brush border GO:0005903 8.96 SLC34A1 SLC34A3
4 brush border membrane GO:0031526 8.62 SLC34A1 SLC34A3

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 SLC34A1 SLC34A3
2 sodium ion transport GO:0006814 9.32 SLC34A1 SLC34A3
3 sodium ion transmembrane transport GO:0035725 9.26 SLC34A1 SLC34A3
4 phosphate ion transport GO:0006817 9.16 SLC34A1 SLC34A3
5 cellular phosphate ion homeostasis GO:0030643 8.96 SLC34A1 SLC34A3
6 sodium-dependent phosphate transport GO:0044341 8.62 SLC34A1 SLC34A3

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 9.16 SLC34A1 SLC34A3
2 sodium:phosphate symporter activity GO:0005436 8.96 SLC34A1 SLC34A3
3 sodium-dependent phosphate transmembrane transporter activity GO:0015321 8.62 SLC34A1 SLC34A3

Sources for Hereditary Hypophosphatemic Rickets

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