VDRR
MCID: HRD086
MIFTS: 32

Hereditary Hypophosphatemic Rickets (VDRR) malady

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

Aliases & Classifications for Hereditary Hypophosphatemic Rickets

Aliases & Descriptions for Hereditary Hypophosphatemic Rickets:

Name: Hereditary Hypophosphatemic Rickets 25
Vitamin D-Resistant Rickets 25 69
Hypophosphatemia 25 69
Hypophosphatemic Rickets, X-Linked Dominant 69
Familial Hypophosphatemic Rickets 69
Vdrr 25

Classifications:



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 epidermal nevus vitamin d resistant rickets, and has symptoms including arthralgia and bone pain. An important gene associated with Hereditary Hypophosphatemic Rickets is SLC34A3 (Solute Carrier Family 34 Member 3). The drugs Ergocalciferol and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotype is Decreased shRNA abundance (Z-score < -2).

Related Diseases for Hereditary Hypophosphatemic Rickets

Diseases in the Hypophosphatemic Rickets family:

Hypophosphatemic Rickets, Ar Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic Rickets, Autosomal Dominant Autosomal Recessive Hypophosphatemic Rickets
Hereditary Hypophosphatemic Rickets

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

(show all 25)
id Related Disease Score Top Affiliating Genes
1 hypophosphatemia 12.3
2 epidermal nevus vitamin d resistant rickets 12.3
3 hypophosphatemic rickets with hypercalciuria 12.2
4 cutaneous-skeletal hypophosphatemia syndrome 12.1
5 dominant hypophosphatemia with nephrolithiasis or osteoporosis 11.8
6 hypophosphatemic rickets, x-linked dominant 11.7
7 hypophosphatemic rickets, autosomal dominant 11.5
8 hypophosphatemic rickets, ar 11.3
9 nephrolithiasis/osteoporosis, hypophosphatemic, 1 11.3
10 hypophosphatemic rickets, autosomal recessive, 2 11.3
11 rickets, vitamin d-resistant, type iia 10.8
12 rickets 10.6
13 hypophosphatemic rickets 10.6
14 keratoderma with woolly hair 9.9 SLC34A1 SLC34A3
15 nephrolithiasis 9.9
16 osteomalacia 9.9
17 nephrocalcinosis 9.9
18 lymphangioleiomyomatosis 9.9 SLC34A1 SLC34A3
19 joubert syndrome 9 9.9 SLC34A1 SLC34A3
20 coffin-lowry syndrome 9.9 SLC34A1 SLC34A3
21 gastric antral vascular ectasia 9.9 SLC34A1 SLC34A3
22 prostate cancer, hereditary, x-linked 2 9.8 SLC34A1 SLC34A3
23 newborn respiratory distress syndrome 9.8 SLC34A1 SLC34A3
24 opportunistic bacterial infectious disease 9.8 SLC34A1 SLC34A3
25 allergic urticaria 9.7 SLC34A1 SLC34A3

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
id 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)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ergocalciferol Approved, Nutraceutical Phase 3 50-14-6 5280793
2 Hormone Antagonists Phase 3,Phase 1,Phase 2
3 Hormones Phase 3,Phase 1,Phase 2
4 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1,Phase 2
5 Bone Density Conservation Agents Phase 3
6 Ergocalciferols Phase 3
7 Micronutrients Phase 3
8 Trace Elements Phase 3
9 vitamin d Phase 3
10 Vitamins Phase 3
11 Mitogens Phase 3,Phase 2,Phase 1
12 Antibodies Phase 3,Phase 2
13 Antibodies, Monoclonal Phase 3,Phase 2
14 Immunoglobulin G Phase 3,Phase 2
15 Immunoglobulins Phase 3,Phase 2
16 Calciferol Nutraceutical Phase 3
17 Vitamin D2 Nutraceutical Phase 3
18 Calcimimetic Agents Phase 1
19 Cinacalcet Hydrochloride Phase 1
20
Salmon Calcitonin Approved, Investigational 47931-85-1 16129616
21
Iron Approved 7439-89-6 23925
22
Teriparatide Approved, Investigational 52232-67-4 16133850
23
Sevelamer Approved 52757-95-6, 152751-57-0 3085017
24
Calcitriol Approved, Nutraceutical 32222-06-3 134070 5280453
25
Alfacalcidol Approved, Nutraceutical 41294-56-8 5282181
26 calcitonin
27 Calcitonin Gene-Related Peptide
28 Vasodilator Agents
29 Autonomic Agents
30 Cholinergic Agents
31 Methacholine Chloride
32 Neurotransmitter Agents
33 Peripheral Nervous System Agents
34 Respiratory System Agents
35 Ferrous gluconate
36 Hematinics
37 Calcium, Dietary
38 glucocorticoids
39 Chelating Agents
40 Hydroxycholecalciferols
41 Iron Supplement Nutraceutical

Interventional clinical trials:

(show all 25)
id Name Status NCT ID Phase
1 The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone Formers Unknown status NCT01526304 Phase 4
2 Therapeutic Use of Oral Sodium Phosphate (Z-521) in Primary Hypophosphatemic Rickets Completed NCT01237288 Phase 3
3 Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets Completed NCT00417612 Phase 3
4 Efficacy and Safety of KRN23 Versus Oral Phosphate and Active Vitamin D Treatment in Pediatric Patients With X Linked Hypophosphatemia (XLH) Recruiting NCT02915705 Phase 3
5 Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02526160 Phase 3
6 Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02537431 Phase 3
7 An Extension Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01571596 Phase 1, Phase 2
8 A Repeated Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01340482 Phase 1, Phase 2
9 Growth Hormone Treatment in Children With Hypophosphatemic Rickets Completed NCT02720770 Phase 1, Phase 2
10 Study of KRN23, a Recombinant Fully Human Monoclonal Antibody Against FGF23, in Pediatric Subjects With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02163577 Phase 2
11 Study of the Safety, Pharmacodynamics and Efficacy of KRN23 in Children From 1 to 4 Years Old With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02750618 Phase 2
12 Long-Term Extension Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH) Enrolling by invitation NCT02312687 Phase 2
13 Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic Rickets Unknown status NCT00195936 Phase 1
14 Effects of GH on Body Proportions and Final Height in X-Linked Hypophosphatemic Rickets Unknown status NCT00473187 Phase 1
15 A Study of KRN23 in X-linked Hypophosphatemia Completed NCT00830674 Phase 1
16 A Study of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/Osteomalacia Completed NCT02181764 Phase 1
17 Cinacalcet for Fibroblast Growth Factor 23 (FGF23)-Mediated Hypophosphatemia (Hypophosphatemic Rickets) Terminated NCT01748812 Phase 1
18 Calcimimetics in Hypophosphatemic Rickets Unknown status NCT00844740
19 Calcitonin for Treating X-linked Hypophosphatemia Completed NCT01652573
20 Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent Patients Completed NCT01578824
21 Serum FGF-23 and Vitamin D Deficiency Completed NCT01102751
22 Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Project. Recruiting NCT02233322
23 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Recruiting NCT01660308
24 Study of the Diagnostic Value of Stable Calcium Isotope Profiling in Bone and Calcium Disorders Recruiting NCT02252679
25 Hypophosphatemic Rickets in Norway Active, not recruiting NCT01057186

Search NIH Clinical Center for Hereditary Hypophosphatemic Rickets

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Hereditary Hypophosphatemic Rickets

Anatomical Context for Hereditary Hypophosphatemic Rickets

MalaCards organs/tissues related to Hereditary Hypophosphatemic Rickets:

39
Bone

Publications for Hereditary Hypophosphatemic Rickets

Articles related to Hereditary Hypophosphatemic Rickets:

(show all 25)
id Title Authors Year
1
Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c. ( 27939817 )
2016
2
Results of deformity correction in children with X-linked hereditary hypophosphatemic rickets by external fixation or combined technique. ( 26150332 )
2015
3
Therapeutic use of oral sodium phosphate (phosribbon(Ar) combination granules) in hereditary hypophosphatemic rickets. ( 24532956 )
2014
4
A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient. ( 24246249 )
2014
5
Intronic deletions in the SLC34A3 gene: A cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria. ( 24176905 )
2014
6
Bilateral pseudarthrosis of the femoral neck in a 25-year-old male with hereditary hypophosphatemic rickets. ( 24955267 )
2014
7
SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria. ( 22672866 )
2012
8
Hereditary hypophosphatemic rickets with hypercalciuria: case report. ( 22806288 )
2012
9
Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria. ( 22159077 )
2012
10
Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation. ( 21344632 )
2011
11
Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report. ( 20074341 )
2010
12
Deformity correction in children with hereditary hypophosphatemic rickets. ( 18841431 )
2008
13
A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc. ( 18480181 )
2008
14
Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function. ( 17968493 )
2007
15
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. ( 16358215 )
2006
16
SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium- phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis. ( 16358214 )
2006
17
Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria. ( 16849419 )
2006
18
Hereditary hypophosphatemic rickets with hypercalciuria. ( 16798045 )
2006
19
Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene. ( 11181798 )
2001
20
Hereditary hypophosphatemic rickets with hypercalciuria: report of a new kindred. ( 11340356 )
2001
21
Hyperoxaluria is not a cause of nephrocalcinosis in phosphate-treated patients with hereditary hypophosphatemic rickets. ( 8396209 )
1993
22
A new kindred with hereditary hypophosphatemic rickets with hypercalciuria: implications for correct diagnosis and treatment. ( 1436310 )
1992
23
Osteomalacia in hereditary hypophosphatemic rickets with hypercalciuria: a correlative clinical-histomorphometric study. ( 1986023 )
1991
24
"Idiopathic" hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect. ( 3796683 )
1987
25
Hereditary hypophosphatemic rickets with hypercalciuria. ( 2983203 )
1985

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

GO Terms for Hereditary Hypophosphatemic Rickets

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

id 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:

id Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.4 SLC34A1 SLC34A3
2 sodium ion transport GO:0006814 9.37 SLC34A1 SLC34A3
3 sodium ion transmembrane transport GO:0035725 9.32 SLC34A1 SLC34A3
4 phosphate ion transmembrane transport GO:0035435 9.26 SLC34A1 SLC34A3
5 phosphate ion transport GO:0006817 9.16 SLC34A1 SLC34A3
6 cellular phosphate ion homeostasis GO:0030643 8.96 SLC34A1 SLC34A3
7 sodium-dependent phosphate transport GO:0044341 8.62 SLC34A1 SLC34A3

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

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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