VDRR
MCID: HRD086
MIFTS: 44

Hereditary Hypophosphatemic Rickets (VDRR)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Nephrological 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 Ergocalciferol and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include bone, heart 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 top 50) (show all 184)
# Related Disease Score Top Affiliating Genes
1 hypophosphatemia 33.6 SLC34A1 SLC34A3
2 hypophosphatemic rickets with hypercalciuria, hereditary 33.3 SLC34A1 SLC34A3
3 hypophosphatemic rickets, x-linked dominant 33.1 SLC34A1 SLC34A3
4 rickets 31.1 SLC34A1 SLC34A3
5 hypophosphatemic rickets, x-linked recessive 31.0 SLC34A1 SLC34A3
6 nephrocalcinosis 29.8 SLC34A1 SLC34A3
7 nephrolithiasis 29.7 SLC34A1 SLC34A3
8 epidermal nevus vitamin d resistant rickets 12.6
9 cutaneous-skeletal hypophosphatemia syndrome 12.4
10 hypophosphatemia, renal, with intracerebral calcifications 12.0
11 dominant hypophosphatemia with nephrolithiasis or osteoporosis 12.0
12 hypophosphatemic rickets, autosomal dominant 12.0
13 nephrolithiasis/osteoporosis, hypophosphatemic, 1 11.8
14 hypophosphatemic rickets, autosomal recessive, 1 11.7
15 hypophosphatemic rickets, autosomal recessive, 2 11.6
16 dentin dysplasia, type i 11.4
17 oncogenic osteomalacia 11.4
18 vitamin d hydroxylation-deficient rickets, type 1a 11.4
19 panostotic fibrous dysplasia 11.3
20 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.3
21 thyrotoxic periodic paralysis 11.3
22 vitamin d-dependent rickets, type 2a 11.1
23 exostoses, multiple, type i 10.9
24 fanconi renotubular syndrome 1 10.9
25 metaphyseal chondrodysplasia, jansen type 10.9
26 tumoral calcinosis, hyperphosphatemic, familial, 1 10.9
27 dent disease 1 10.9
28 lowe oculocerebrorenal syndrome 10.9
29 nephrolithiasis/osteoporosis, hypophosphatemic, 2 10.9
30 tumoral calcinosis, hyperphosphatemic, familial, 2 10.9
31 tumoral calcinosis, hyperphosphatemic, familial, 3 10.9
32 autosomal recessive hypophosphatemic rickets 10.9
33 alopecia 10.5
34 diabetes insipidus, nephrogenic, autosomal 10.4
35 diabetes insipidus 10.4
36 craniosynostosis 1 10.3
37 anorexia nervosa 10.3
38 hypokalemia 10.3
39 respiratory failure 10.2
40 spinal stenosis 10.2
41 diabetes mellitus, ketosis-prone 10.2
42 leukemia 10.2
43 hemolytic anemia 10.2
44 hyperparathyroidism 10.2
45 polyglucosan body myopathy 1 with or without immunodeficiency 10.1
46 osteomalacia 10.1
47 bone disease 10.1
48 epidermolytic hyperkeratosis 10.1
49 hemophilia a 10.1
50 bartter disease 10.1

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 top 50) (show all 68)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ergocalciferol Approved, Nutraceutical Phase 3,Not Applicable 50-14-6 5280793
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3,Not Applicable 1406-16-2
3 Mitogens Phase 3,Phase 2,Phase 1
4 Vitamins Phase 3,Not Applicable
5 Micronutrients Phase 3,Not Applicable
6 Hormones Phase 3,Phase 1,Phase 2,Not Applicable
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1,Phase 2,Not Applicable
8 Hormone Antagonists Phase 3,Phase 1,Phase 2,Not Applicable
9 Bone Density Conservation Agents Phase 3,Not Applicable
10 Trace Elements Phase 3,Not Applicable
11 Pharmaceutical Solutions Phase 3,Phase 2
12 Calciferol Phase 3,Not Applicable
13 Vitamin D2 Phase 3,Not Applicable
14 Ergocalciferols Phase 3,Not Applicable
15 Immunoglobulins Phase 3,Phase 2
16 Antibodies, Monoclonal Phase 3,Phase 2
17 Antibodies Phase 3,Phase 2
18 Immunologic Factors Phase 2
19 Immunoglobulin G Phase 2
20 Calcimimetic Agents Phase 1,Not Applicable
21 Cinacalcet Hydrochloride Phase 1,Not Applicable
22
Sevelamer Approved 52757-95-6
23
Salmon Calcitonin Approved, Investigational Not Applicable 47931-85-1 16129616
24
Iron Approved Not Applicable 7439-89-6 23925
25
Nicotinamide Approved, Investigational Not Applicable 98-92-0 936
26
Hydroxocobalamin Approved Not Applicable 13422-51-0 11953898 44475014
27
leucovorin Approved Not Applicable 58-05-9 6006 143
28
Ferrous gluconate Approved Not Applicable 299-29-6
29
Teriparatide Approved, Investigational 52232-67-4 16133850
30
Angiotensin II Approved, Investigational 11128-99-7, 68521-88-0, 4474-91-3 172198 65143
31
Calcitriol Approved, Nutraceutical Not Applicable 32222-06-3 5280453 134070
32
Alfacalcidol Approved, Nutraceutical 41294-56-8 5282181
33
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
34
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Not Applicable 59-43-8, 70-16-6 1130
35
Vitamin A Approved, Nutraceutical, Vet_approved Not Applicable 11103-57-4, 68-26-8 445354
36
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
37
Niacin Approved, Investigational, Nutraceutical Not Applicable 59-67-6 938
38
Vitamin D3 Approved, Nutraceutical Not Applicable 67-97-0 5280795 6221
39
Calcitonin gene-related peptide Investigational Not Applicable 83652-28-2
40
Cobalamin Experimental Not Applicable 13408-78-1 6438156
41 Hydroxycholecalciferols
42 Chelating Agents
43 Cholinergic Agents Not Applicable
44 Autonomic Agents Not Applicable
45 Peripheral Nervous System Agents Not Applicable
46 Respiratory System Agents Not Applicable
47 Neurotransmitter Agents Not Applicable
48 Muscarinic Agonists Not Applicable
49 Methacholine Chloride Not Applicable
50 Vasodilator Agents Not Applicable

Interventional clinical trials:

(show all 41)
# 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 Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH) Completed NCT02537431 Phase 3
3 Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH) Completed NCT02526160 Phase 3
4 Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets Completed NCT00417612 Phase 3 Paricalcitol
5 Open Label Trial Assessing Safety and Efficacy of Burosumab (KRN23), in a Patient With ENS and Hypophosphatemic Rickets Recruiting NCT03581591 Phase 3
6 A Study of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Active, not recruiting NCT03233126 Phase 3 KRN23
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 Study of KRN23, a Recombinant Fully Human Monoclonal Antibody Against Fibroblast Growth Factor 23 (FGF23), in Pediatric Subjects With X-linked Hypophosphatemia (XLH) Completed NCT02163577 Phase 2
10 Long-Term Extension Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH) Completed NCT02312687 Phase 2
11 An Extension Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01571596 Phase 1, Phase 2 KRN23
12 A Repeated Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01340482 Phase 1, 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
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 Hypophosphatemic Rickets in Norway Unknown status NCT01057186 Sevelamer
21 The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone Formers Unknown status NCT01526304
22 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Unknown status NCT01660308
23 Milk Products in the Treatment of Hypophosphatemic Rickets Completed NCT03348644 Not Applicable
24 Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent Patients Completed NCT01578824 Not Applicable
25 Calcitonin for Treating X-linked Hypophosphatemia Completed NCT01652573 Not Applicable nasal salmon calcitonin;Saline Nasal Spray Placebo
26 Serum FGF-23 and Vitamin D Deficiency Completed NCT01102751
27 Magnesium Treatment on Vitamin D Metabolism in Participants Completed Personalized Prevention of Colorectal Cancer Trial Completed NCT03265483 Not Applicable
28 Effect of Vitamin D3 Supplementation in Children From 12 to 30 Months of Age. Completed NCT03544671 Not Applicable
29 Study of Longitudinal Observation for Patient With X-linked Hypophosphatemic Rickets/Osteomalacia in Collaboration With Asian Partners Recruiting NCT03745521
30 X-linked Hypophosphatemia Disease Monitoring Program Recruiting NCT03651505
31 Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Project. Recruiting NCT02233322 Not Applicable
32 Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Recruiting NCT03478839
33 Calcitriol Monotherapy for X-Linked Hypophosphatemia Recruiting NCT03748966 Early Phase 1 Calcitriol
34 Natural History of GACI With or Without ARHR2 or PXE Recruiting NCT03758534
35 Study of the Diagnostic Value of Stable Calcium Isotope Profiling in Bone and Calcium Disorders Recruiting NCT02252679
36 Individual Patient Compassionate Use of Burosumab Available NCT03775187
37 Registry for Patients With X-linked Hypophosphatemia Not yet recruiting NCT03193476
38 The Impact of Phosphate Metabolism on Healthy Aging Not yet recruiting NCT03771105 Early Phase 1 phosphate
39 X-linked Hypophosphatemia and FGF21 Not yet recruiting NCT03596554
40 FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP) Not yet recruiting NCT03489993
41 Hypocalcemia in Infants and Children Not yet recruiting NCT03685877

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, Heart, Kidney, Myeloid, Bone Marrow, Liver, Prostate

Publications for Hereditary Hypophosphatemic Rickets

Articles related to Hereditary Hypophosphatemic Rickets:

(show top 50) (show all 297)
# 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
Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy. ( 30109410 )
2018
3
X-linked vitamin D-resistant rickets: 12 years of follow-up. ( 30123412 )
2018
4
Vitamin D-Resistant Rickets and Cinacalcet-One More Favorable Experience. ( 30555810 )
2018
5
Vitamin D resistant rickets: What an anesthesiologist should know. ( 29416255 )
2017
6
Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes. ( 28301319 )
2017
7
Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings. ( 29201067 )
2017
8
Alopecia in patients with vitamin D-resistant rickets type-II. ( 28538904 )
2017
9
Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia. ( 29127362 )
2017
10
Bartter Syndrome with Nephrogenic Diabetes Insipidus and Vitamin D Resistant Rickets. ( 28285303 )
2017
11
Novel screening system for high-affinity ligand of heredity vitamin D-resistant rickets-associated vitamin D receptor mutant R274L using bioluminescent sensor. ( 27864003 )
2016
12
Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c. ( 27939817 )
2016
13
Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets. ( 27408766 )
2016
14
Extensive ossification of the paraspinal ligaments in a patient with vitamin D-resistant rickets: Case report with literature review. ( 27611796 )
2016
15
Successful intermittent intravenous calcium treatment via the peripheral route in a patient with hereditary vitamin D-resistant rickets and alopecia. ( 25573344 )
2015
16
Results of deformity correction in children with X-linked hereditary hypophosphatemic rickets by external fixation or combined technique. ( 26150332 )
2015
17
Periodontal diseases in patients with vitamin d-resistant rickets. ( 25802443 )
2015
18
Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese. ( 26422470 )
2015
19
Bilateral pseudarthrosis of the femoral neck in a 25-year-old male with hereditary hypophosphatemic rickets. ( 24955267 )
2014
20
A mutated vitamin D receptor in hereditary vitamin D-resistant rickets prevents induction of bronchial hyperreactivity and inflammation. ( 24885630 )
2014
21
Intronic deletions in the SLC34A3 gene: A cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria. ( 24176905 )
2014
22
Hereditary vitamin D-resistant rickets presenting as alopecia. ( 24917549 )
2014
23
A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient. ( 24246249 )
2014
24
A case report of nephrogenic diabetes insipidus with idiopathic Fanconi syndrome in a child who presented with vitamin D resistant rickets. ( 24821875 )
2014
25
Therapeutic use of oral sodium phosphate (phosribbon(Ar) combination granules) in hereditary hypophosphatemic rickets. ( 24532956 )
2014
26
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
27
Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets. ( 24818002 )
2014
28
The role of vitamin D receptor in innate and adaptive immunity: a study in hereditary vitamin D-resistant rickets patients. ( 23482605 )
2013
29
Familial vitamin D resistant rickets: End-organ resistance to 1,25-dihydroxyvitamin D. ( 24251166 )
2013
30
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
31
Pathologic femur fracture due to a brown tumor in a patient with secondary hyperparathyroidism and vitamin D-resistant rickets. ( 22959760 )
2013
32
Oral manifestations of vitamin D resistant rickets in orthopantomogram. ( 23486344 )
2013
33
Enteral calcium infusion used successfully as treatment for a patient with hereditary vitamin D resistant rickets (HVDRR) without alopecia: a novel mutation. ( 23026218 )
2013
34
Dental manifestations of patient with vitamin D-resistant rickets. ( 24473729 )
2013
35
SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria. ( 22672866 )
2012
36
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
37
Endodontic management in a patient with vitamin D-resistant Rickets. ( 22244648 )
2012
38
Hereditary hypophosphatemic rickets with hypercalciuria: case report. ( 22806288 )
2012
39
Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria. ( 22159077 )
2012
40
Paravertebral ligament ossification in vitamin D-resistant rickets: incidence, clinical significance, and genetic evaluation. ( 22261628 )
2012
41
Report of two unrelated patients with hereditary vitamin D resistant rickets due to the same novel mutation in the vitamin D receptor. ( 22145479 )
2011
42
Calcium absorption, kinetics, bone density, and bone structure in patients with hereditary vitamin D-resistant rickets. ( 21917877 )
2011
43
Nephrogenic diabetes insipidus with idiopathic Fanconi's syndrome in a child who presented as vitamin D resistant rickets. ( 22029006 )
2011
44
Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor. ( 21812032 )
2011
45
Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation. ( 21344632 )
2011
46
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
47
Novel compound heterozygous mutations in the vitamin D receptor gene in a Korean girl with hereditary vitamin D resistant rickets. ( 21860566 )
2011
48
Multiple nonvital teeth. Vitamin D-resistant rickets. ( 21062724 )
2010
49
Crystal structure of hereditary vitamin D-resistant rickets--associated mutant H305Q of vitamin D nuclear receptor bound to its natural ligand. ( 20403435 )
2010
50
Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report. ( 20074341 )
2010

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 9.32 SLC34A1 SLC34A3
2 sodium ion transport GO:0006814 9.26 SLC34A1 SLC34A3
3 phosphate ion transport GO:0006817 9.16 SLC34A1 SLC34A3
4 cellular phosphate ion homeostasis GO:0030643 8.96 SLC34A1 SLC34A3
5 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
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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
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49 NCI
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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
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74 UMLS via Orphanet
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