MCID: HRD086
MIFTS: 45

Hereditary Hypophosphatemic Rickets

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 26
Vitamin D-Resistant Rickets 26 74
Hypophosphatemia 26 74
Hypophosphatemic Rickets, X-Linked Dominant 74
Familial Hypophosphatemic Rickets 74
Vdrr 26

Classifications:



External Ids:

Summaries for Hereditary Hypophosphatemic Rickets

Genetics Home Reference : 26 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 Calcitriol and Calcium have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and myeloid, 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 206)
# Related Disease Score Top Affiliating Genes
1 hypophosphatemia 33.5 SLC34A1 SLC34A3
2 hypophosphatemic rickets with hypercalciuria, hereditary 33.2 SLC34A1 SLC34A3
3 hypophosphatemic rickets, x-linked dominant 33.0 SLC34A1 SLC34A3
4 rickets 31.0 SLC34A1 SLC34A3
5 hypophosphatemic rickets, x-linked recessive 30.9 SLC34A1 SLC34A3
6 nephrocalcinosis 29.6 SLC34A1 SLC34A3
7 nephrolithiasis 29.4 SLC34A1 SLC34A3
8 epidermal nevus vitamin d resistant rickets 12.6
9 cutaneous-skeletal hypophosphatemia syndrome 12.4
10 hypophosphatemia, renal, with intracerebral calcifications 12.1
11 hypophosphatemic rickets, autosomal dominant 12.1
12 dominant hypophosphatemia with nephrolithiasis or osteoporosis 12.1
13 hypophosphatemic rickets, autosomal recessive, 1 12.0
14 nephrolithiasis/osteoporosis, hypophosphatemic, 1 11.8
15 hypophosphatemic rickets, autosomal recessive, 2 11.6
16 dentin dysplasia, type i 11.5
17 oncogenic osteomalacia 11.5
18 vitamin d hydroxylation-deficient rickets, type 1a 11.5
19 panostotic fibrous dysplasia 11.4
20 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.4
21 thyrotoxic periodic paralysis 11.3
22 vitamin d-dependent rickets, type 2a 11.1
23 exostoses, multiple, type i 11.0
24 fanconi renotubular syndrome 1 11.0
25 metaphyseal chondrodysplasia, jansen type 11.0
26 tumoral calcinosis, hyperphosphatemic, familial, 1 11.0
27 dent disease 1 11.0
28 lowe oculocerebrorenal syndrome 11.0
29 nephrolithiasis/osteoporosis, hypophosphatemic, 2 11.0
30 tumoral calcinosis, hyperphosphatemic, familial, 2 11.0
31 tumoral calcinosis, hyperphosphatemic, familial, 3 11.0
32 autosomal recessive hypophosphatemic rickets 11.0
33 alopecia 10.5
34 diabetes insipidus, nephrogenic, autosomal 10.4
35 diabetes insipidus 10.4
36 anorexia nervosa 10.3
37 craniosynostosis 1 10.3
38 hypokalemia 10.3
39 leukemia 10.3
40 respiratory failure 10.3
41 diabetes mellitus, ketosis-prone 10.2
42 spinal stenosis 10.2
43 hemolytic anemia 10.2
44 hyperparathyroidism 10.2
45 polyglucosan body myopathy 1 with or without immunodeficiency 10.2
46 pseudoarthrosis 10.1
47 osteomalacia 10.1
48 idiopathic hypercalciuria 10.1
49 bone disease 10.1
50 acute liver failure 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:

27
# 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 74)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcitriol Approved, Nutraceutical Phase 4,Not Applicable,Early Phase 1 32222-06-3 5280453 134070
2
Calcium Approved, Nutraceutical Phase 4,Phase 3,Phase 1,Not Applicable,Early Phase 1 7440-70-2 271
3
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Not Applicable,Early Phase 1 1406-16-2
4 Vitamins Phase 4,Phase 3,Not Applicable,Early Phase 1
5 Calcium, Dietary Phase 4,Phase 3,Phase 1,Not Applicable,Early Phase 1
6 Trace Elements Phase 4,Phase 3,Not Applicable,Early Phase 1
7 Micronutrients Phase 4,Phase 3,Not Applicable,Early Phase 1
8 Bone Density Conservation Agents Phase 4,Phase 3,Not Applicable,Early Phase 1
9 Nutrients Phase 4,Phase 3,Not Applicable,Early Phase 1
10 Hormones Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
11 Calciferol Phase 4,Phase 3,Not Applicable,Early Phase 1
12 Vasoconstrictor Agents Phase 4,Early Phase 1
13
Parathyroid hormone Approved, Investigational Phase 3,Phase 1 9002-64-6
14
Ergocalciferol Approved, Nutraceutical Phase 3,Not Applicable 50-14-6 5280793
15 Mitogens Phase 3,Phase 2,Phase 1
16 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1,Phase 2,Not Applicable
17 Hormone Antagonists Phase 3,Phase 1,Phase 2,Not Applicable
18 Pharmaceutical Solutions Phase 3,Phase 2
19 Ergocalciferols Phase 3,Not Applicable
20 Vitamin D2 Phase 3,Not Applicable
21 Antibodies, Monoclonal Phase 3,Phase 2
22 Immunologic Factors Phase 3,Phase 2
23 Immunoglobulins Phase 3,Phase 2
24 Antibodies Phase 3,Phase 2
25 Immunoglobulin G Phase 2
26
Cinacalcet Approved Phase 1,Not Applicable 226256-56-0 156419
27 Calcimimetic Agents Phase 1,Not Applicable
28
Sevelamer Approved 52757-95-6
29
Salmon Calcitonin Approved, Investigational Not Applicable 47931-85-1 16129616
30
leucovorin Approved Not Applicable 58-05-9 143 6006
31
Hydroxocobalamin Approved Not Applicable 13422-51-0 15589840 11953898
32
Nicotinamide Approved, Investigational Not Applicable 98-92-0 936
33
Iron Approved, Experimental Not Applicable 7439-89-6, 15438-31-0 27284 23925
34
Ferrous gluconate Approved Not Applicable 299-29-6
35
Angiotensin II Approved, Investigational 11128-99-7, 68521-88-0, 4474-91-3 172198
36
Teriparatide Approved, Investigational 52232-67-4 16133850
37
Alfacalcidol Approved, Nutraceutical 41294-56-8 5282181
38
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
39
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Not Applicable 70-16-6, 59-43-8 1130
40
Vitamin D3 Approved, Nutraceutical Not Applicable 67-97-0 5280795 6221
41
Niacin Approved, Investigational, Nutraceutical Not Applicable 59-67-6 938
42
Vitamin A Approved, Nutraceutical, Vet_approved Not Applicable 68-26-8, 22737-96-8, 11103-57-4 9904001 445354
43
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
44
Calcitonin gene-related peptide Investigational Not Applicable 83652-28-2
45
Cobalamin Experimental Not Applicable 13408-78-1 6857388
46 Hydroxycholecalciferols
47 Chelating Agents
48 Peripheral Nervous System Agents Not Applicable
49 Respiratory System Agents Not Applicable
50 Neurotransmitter Agents Not Applicable

Interventional clinical trials:

(show all 44)
# Name Status NCT ID Phase Drugs
1 Using Different Doses of Active Vitamin D Combined With Neutral Phosphate in Children With X-linked Hypophosphatemia Recruiting NCT03820518 Phase 4 Calcitriol
2 Therapeutic Use of Oral Sodium Phosphate (Z-521) in Primary Hypophosphatemic Rickets Completed NCT01237288 Phase 3 Z-521
3 Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH) Completed NCT02537431 Phase 3
4 Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH) Completed NCT02526160 Phase 3
5 Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets Completed NCT00417612 Phase 3 Paricalcitol
6 Study of the Anti-FGF23 Antibody, Burosumab, in Adults With XLH Recruiting NCT03920072 Phase 3 Burosumab
7 Open Label Trial Assessing Safety and Efficacy of Burosumab (KRN23), in a Patient With ENS and Hypophosphatemic Rickets Active, not recruiting NCT03581591 Phase 3
8 A Study of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Active, not recruiting NCT03233126 Phase 3 KRN23
9 Efficacy and Safety of Burosumab (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
10 Growth Hormone Treatment in Children With Hypophosphatemic Rickets Completed NCT02720770 Phase 1, Phase 2 norditropine simplex
11 Study of KRN23 (Burosumab), a Recombinant Fully Human Monoclonal Antibody Against Fibroblast Growth Factor 23 (FGF23), in Pediatric Subjects With X-linked Hypophosphatemia (XLH) Completed NCT02163577 Phase 2
12 Long-Term Extension Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH) Completed NCT02312687 Phase 2
13 An Extension Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01571596 Phase 1, Phase 2 KRN23
14 A Repeated Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01340482 Phase 1, Phase 2 KRN23
15 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
16 Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic Rickets Unknown status NCT00195936 Phase 1 Cinacalcet
17 Effects of GH on Body Proportions and Final Height in X-Linked Hypophosphatemic Rickets Unknown status NCT00473187 Phase 1 somatropin
18 A Study of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/Osteomalacia Completed NCT02181764 Phase 1 KRN23
19 A Study of KRN23 in X-linked Hypophosphatemia Completed NCT00830674 Phase 1 Placebo;KRN23
20 Cinacalcet for Fibroblast Growth Factor 23 (FGF23)-Mediated Hypophosphatemia (Hypophosphatemic Rickets) Terminated NCT01748812 Phase 1 Osteomalacia
21 Calcimimetics in Hypophosphatemic Rickets Unknown status NCT00844740 Not Applicable Cinacalcet
22 Hypophosphatemic Rickets in Norway Unknown status NCT01057186 Sevelamer
23 The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone Formers Unknown status NCT01526304
24 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Unknown status NCT01660308
25 Milk Products in the Treatment of Hypophosphatemic Rickets Completed NCT03348644 Not Applicable
26 Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent Patients Completed NCT01578824 Not Applicable
27 Calcitonin for Treating X-linked Hypophosphatemia Completed NCT01652573 Not Applicable nasal salmon calcitonin;Saline Nasal Spray Placebo
28 Serum FGF-23 and Vitamin D Deficiency Completed NCT01102751
29 Magnesium Treatment on Vitamin D Metabolism in Participants Completed Personalized Prevention of Colorectal Cancer Trial Completed NCT03265483 Not Applicable
30 Effect of Vitamin D3 Supplementation in Children From 12 to 30 Months of Age. Completed NCT03544671 Not Applicable
31 Study of Longitudinal Observation for Patient With X-linked Hypophosphatemic Rickets/Osteomalacia in Collaboration With Asian Partners Recruiting NCT03745521
32 X-linked Hypophosphatemia Disease Monitoring Program Recruiting NCT03651505
33 Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Project. Recruiting NCT02233322 Not Applicable
34 Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Recruiting NCT03478839
35 Calcitriol Monotherapy for X-Linked Hypophosphatemia Recruiting NCT03748966 Early Phase 1 Calcitriol
36 Registry for Patients With X-linked Hypophosphatemia Recruiting NCT03193476
37 Natural History of GACI With or Without ARHR2 or PXE Recruiting NCT03758534
38 FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP) Recruiting NCT03489993
39 Study of the Diagnostic Value of Stable Calcium Isotope Profiling in Bone and Calcium Disorders Recruiting NCT02252679
40 Individual Patient Compassionate Use of Burosumab Available NCT03775187
41 Dental Implants in Patients With X-linked Hypophosphatemia Not yet recruiting NCT03879915
42 The Impact of Phosphate Metabolism on Healthy Aging Not yet recruiting NCT03771105 Early Phase 1 phosphate
43 X-linked Hypophosphatemia and FGF21 Not yet recruiting NCT03596554
44 Hypocalcemia in Infants and Children Not yet recruiting NCT03685877

Search NIH Clinical Center for Hereditary Hypophosphatemic Rickets

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Genetic Tests for Hereditary Hypophosphatemic Rickets

Anatomical Context for Hereditary Hypophosphatemic Rickets

MalaCards organs/tissues related to Hereditary Hypophosphatemic Rickets:

42
Bone, Kidney, Myeloid, Liver, Prostate, Bone Marrow, Spinal Cord

Publications for Hereditary Hypophosphatemic Rickets

Articles related to Hereditary Hypophosphatemic Rickets:

(show top 50) (show all 300)
# Title Authors Year
1
Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy. ( 30109410 )
2019
2
A novel PHEX mutation associated with vitamin D-resistant rickets. ( 30792871 )
2019
3
Detecting reasons for recurrent deformity in treatment of patients with vitamin D-resistant rickets using diagnostic imaging. ( 30976148 )
2019
4
SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria ( 29809158 )
2018
5
X-linked vitamin D-resistant rickets: 12 years of follow-up. ( 30123412 )
2018
6
Vitamin D-Resistant Rickets and Cinacalcet-One More Favorable Experience. ( 30555810 )
2018
7
Tooth Development Associated with Mutations in Hereditary Vitamin D-Resistant Rickets. ( 30938651 )
2018
8
Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia. ( 29127362 )
2017
9
Alopecia in patients with vitamin D-resistant rickets type-II. ( 28538904 )
2017
10
Bartter Syndrome with Nephrogenic Diabetes Insipidus and Vitamin D Resistant Rickets. ( 28285303 )
2017
11
Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c. ( 27939817 )
2017
12
Novel screening system for high-affinity ligand of heredity vitamin D-resistant rickets-associated vitamin D receptor mutant R274L using bioluminescent sensor. ( 27864003 )
2017
13
Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes. ( 28301319 )
2017
14
Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings. ( 29201067 )
2017
15
Vitamin D resistant rickets: What an anesthesiologist should know. ( 29416255 )
2017
16
Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets. ( 27408766 )
2016
17
Extensive ossification of the paraspinal ligaments in a patient with vitamin D-resistant rickets: Case report with literature review. ( 27611796 )
2016
18
Successful intermittent intravenous calcium treatment via the peripheral route in a patient with hereditary vitamin D-resistant rickets and alopecia. ( 25573344 )
2015
19
Results of deformity correction in children with X-linked hereditary hypophosphatemic rickets by external fixation or combined technique. ( 26150332 )
2015
20
Periodontal diseases in patients with vitamin D-resistant rickets. ( 25802443 )
2015
21
Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese. ( 26422470 )
2015
22
Hereditary vitamin D-resistant rickets presenting as alopecia. ( 24917549 )
2014
23
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
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
Intronic deletions in the SLC34A3 gene: a cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria. ( 24176905 )
2014
26
A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient. ( 24246249 )
2014
27
Therapeutic use of oral sodium phosphate (phosribbon(®) combination granules) in hereditary hypophosphatemic rickets. ( 24532956 )
2014
28
Bilateral pseudarthrosis of the femoral neck in a 25-year-old male with hereditary hypophosphatemic rickets. ( 24955267 )
2014
29
Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets. ( 24818002 )
2014
30
A mutated vitamin D receptor in hereditary vitamin D-resistant rickets prevents induction of bronchial hyperreactivity and inflammation. ( 24885630 )
2014
31
Enteral calcium infusion used successfully as treatment for a patient with hereditary vitamin D resistant rickets (HVDRR) without alopecia: a novel mutation. ( 23026218 )
2013
32
Pathologic femur fracture due to a brown tumor in a patient with secondary hyperparathyroidism and vitamin D-resistant rickets. ( 22959760 )
2013
33
The role of vitamin D receptor in innate and adaptive immunity: a study in hereditary vitamin D-resistant rickets patients. ( 23482605 )
2013
34
Oral manifestations of vitamin D resistant rickets in orthopantomogram. ( 23486344 )
2013
35
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
36
Familial vitamin D resistant rickets: End-organ resistance to 1,25-dihydroxyvitamin D. ( 24251166 )
2013
37
Dental manifestations of patient with vitamin D-resistant rickets. ( 24473729 )
2013
38
Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria. ( 22159077 )
2012
39
SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria. ( 22672866 )
2012
40
Hereditary hypophosphatemic rickets with hypercalciuria: case report. ( 22806288 )
2012
41
Endodontic management in a patient with vitamin D-resistant Rickets. ( 22244648 )
2012
42
Paravertebral ligament ossification in vitamin D-resistant rickets: incidence, clinical significance, and genetic evaluation. ( 22261628 )
2012
43
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
44
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
45
Nephrogenic diabetes insipidus with idiopathic Fanconi's syndrome in a child who presented as vitamin D resistant rickets. ( 22029006 )
2011
46
Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation. ( 21344632 )
2011
47
Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor. ( 21812032 )
2011
48
Novel compound heterozygous mutations in the vitamin D receptor gene in a Korean girl with hereditary vitamin D resistant rickets. ( 21860566 )
2011
49
Calcium absorption, kinetics, bone density, and bone structure in patients with hereditary vitamin D-resistant rickets. ( 21917877 )
2011
50
Report of two unrelated patients with hereditary vitamin D resistant rickets due to the same novel mutation in the vitamin D receptor. ( 22145479 )
2011

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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