MCID: HRD086
MIFTS: 36

Hereditary Hypophosphatemic Rickets

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

Aliases & Classifications for Hereditary Hypophosphatemic Rickets

MalaCards integrated aliases for Hereditary Hypophosphatemic Rickets:

Name: Hereditary Hypophosphatemic Rickets 24
Vitamin D-Resistant Rickets 24 69
Hypophosphatemia 24 69
Hypophosphatemic Rickets, X-Linked Dominant 69
Familial Hypophosphatemic Rickets 69
Vdrr 24

Classifications:



External Ids:

Summaries for Hereditary Hypophosphatemic Rickets

Genetics Home Reference : 24 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 hypophosphatemic rickets with hypercalciuria, hereditary and hypophosphatemia, and has symptoms including bone pain and arthralgia. An important gene associated with Hereditary Hypophosphatemic Rickets is SLC34A3 (Solute Carrier Family 34 Member 3). The drugs Vitamin D and Ergocalciferol have been mentioned in the context of this disorder. Affiliated tissues include bone and kidney, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased 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 all 21)
# Related Disease Score Top Affiliating Genes
1 hypophosphatemic rickets with hypercalciuria, hereditary 32.8 SLC34A1 SLC34A3
2 hypophosphatemia 32.7 SLC34A1 SLC34A3
3 hypophosphatemic rickets, x-linked dominant 32.3 SLC34A1 SLC34A3
4 hypophosphatemic rickets, x-linked recessive 30.5 SLC34A1 SLC34A3
5 rickets 30.1 SLC34A1 SLC34A3
6 nephrolithiasis 29.2 SLC34A1 SLC34A3
7 epidermal nevus vitamin d resistant rickets 12.4
8 cutaneous-skeletal hypophosphatemia syndrome 12.2
9 hypophosphatemic rickets, autosomal dominant 11.9
10 hypophosphatemia, renal, with intracerebral calcifications 11.9
11 dominant hypophosphatemia with nephrolithiasis or osteoporosis 11.9
12 nephrolithiasis/osteoporosis, hypophosphatemic, 1 11.6
13 hypophosphatemic rickets, autosomal recessive, 1 11.6
14 hypophosphatemic rickets, autosomal recessive, 2 11.4
15 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.2
16 vitamin d-dependent rickets, type 2a 10.9
17 hypercalciuria, absorptive, 2 10.6
18 nephrocalcinosis 10.0
19 osteomalacia 10.0
20 pulmonary alveolar microlithiasis 9.7 SLC34A1 SLC34A3
21 phosphorus metabolism disease 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:


bone pain, arthralgia

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

25
# 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 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
2
Ergocalciferol Approved, Nutraceutical Phase 3 50-14-6 5280793
3 Hormone Antagonists Phase 3,Phase 1,Phase 2
4 Hormones Phase 3,Phase 1,Phase 2
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1,Phase 2
6 Micronutrients Phase 3
7 Mitogens Phase 3,Phase 2,Phase 1
8 Trace Elements Phase 3
9 Vitamins Phase 3
10 Ergocalciferols Phase 3
11 Bone Density Conservation Agents Phase 3
12 Antibodies, Monoclonal Phase 3,Phase 2
13 Immunoglobulins Phase 3,Phase 2
14 Antibodies Phase 3,Phase 2
15 Vitamin D2 Nutraceutical Phase 3
16 Calciferol Nutraceutical Phase 3
17 Cinacalcet Hydrochloride Phase 1
18 Calcimimetic Agents Phase 1
19
Salmon Calcitonin Approved, Investigational 47931-85-1 16129616
20
Iron Approved 7439-89-6 23925
21
Teriparatide Approved, Investigational 52232-67-4 16133850
22
Sevelamer Approved 52757-95-6, 152751-57-0 3085017
23
Calcitriol Approved, Nutraceutical 32222-06-3 5280453 134070
24
Alfacalcidol Approved, Nutraceutical 41294-56-8 5282181
25 Calcitonin Gene-Related Peptide
26 calcitonin
27 Methacholine Chloride
28 Respiratory System Agents
29 Cholinergic Agents
30 Neurotransmitter Agents
31 Vasodilator Agents
32 Peripheral Nervous System Agents
33 Autonomic Agents
34 glucocorticoids
35 Ferrous gluconate
36 Hematinics
37 Calcium, Dietary
38 Chelating Agents
39 Hydroxycholecalciferols
40 Iron Supplement Nutraceutical

Interventional clinical trials:

(show all 30)

# Name Status NCT ID Phase Drugs
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 Z-521
3 Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets Completed NCT00417612 Phase 3 Paricalcitol
4 A Study of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Active, not recruiting NCT03233126 Phase 3 KRN23
5 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
6 Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02526160 Phase 3
7 Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02537431 Phase 3
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 Long-Term Extension Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH) Active, not recruiting NCT02312687 Phase 2 KRN23
12 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 KRN23
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 KRN23
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 Cinacalcet
20 Milk Products in the Treatment of Hypophosphatemic Rickets Completed NCT03348644
21 Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent Patients Completed NCT01578824
22 Calcitonin for Treating X-linked Hypophosphatemia Completed NCT01652573 nasal salmon calcitonin;Saline Nasal Spray Placebo
23 Serum FGF-23 and Vitamin D Deficiency Completed NCT01102751
24 Magnesium Treatment on Vitamin D Metabolism in Participants Completed Personalized Prevention of Colorectal Cancer Trial Completed NCT03265483
25 Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Project. Recruiting NCT02233322
26 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Recruiting NCT01660308
27 Study of the Diagnostic Value of Stable Calcium Isotope Profiling in Bone and Calcium Disorders Recruiting NCT02252679
28 Hypophosphatemic Rickets in Norway Active, not recruiting NCT01057186 Sevelamer
29 Registry for Patients With X-linked Hypophosphatemia Not yet recruiting NCT03193476
30 Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Not yet recruiting NCT03478839

Search NIH Clinical Center for Hereditary Hypophosphatemic Rickets

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Genetic Tests for Hereditary Hypophosphatemic Rickets

Anatomical Context for Hereditary Hypophosphatemic Rickets

MalaCards organs/tissues related to Hereditary Hypophosphatemic Rickets:

38
Bone, Kidney

Publications for Hereditary Hypophosphatemic Rickets

Articles related to Hereditary Hypophosphatemic Rickets:

(show all 25)
# 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
A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient. ( 24246249 )
2014
4
Bilateral pseudarthrosis of the femoral neck in a 25-year-old male with hereditary hypophosphatemic rickets. ( 24955267 )
2014
5
Intronic deletions in the SLC34A3 gene: A cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria. ( 24176905 )
2014
6
Therapeutic use of oral sodium phosphate (phosribbon(Ar) combination granules) in hereditary hypophosphatemic rickets. ( 24532956 )
2014
7
Hereditary hypophosphatemic rickets with hypercalciuria: case report. ( 22806288 )
2012
8
Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria. ( 22159077 )
2012
9
SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria. ( 22672866 )
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
Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria. ( 16849419 )
2006
16
Hereditary hypophosphatemic rickets with hypercalciuria. ( 16798045 )
2006
17
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
18
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. ( 16358215 )
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:

# 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 9.4 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....