MCID: HRD086
MIFTS: 32

Hereditary Hypophosphatemic Rickets malady

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

Aliases & Classifications for Hereditary Hypophosphatemic Rickets

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Aliases & Descriptions for Hereditary Hypophosphatemic Rickets:

Name: Hereditary Hypophosphatemic Rickets 24
Vitamin D-Resistant Rickets 24 66
Hypophosphatemia 24 66
 
Hypophosphatemic Rickets, X-Linked Dominant 66
Familial Hypophosphatemic Rickets 66
Vdrr 24

Classifications:



Summaries for Hereditary Hypophosphatemic Rickets

About this section
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 epidermal nevus vitamin d resistant rickets and hypophosphatemia, 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 potassium phosphate have been mentioned in the context of this disorder. Affiliated tissues include bone and kidney.

Related Diseases for Hereditary Hypophosphatemic Rickets

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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 27)
idRelated DiseaseScoreTop Affiliating Genes
1epidermal nevus vitamin d resistant rickets12.4
2hypophosphatemia12.3
3hypophosphatemic rickets with hypercalciuria12.1
4cutaneous-skeletal hypophosphatemia syndrome12.0
5dominant hypophosphatemia with nephrolithiasis or osteoporosis11.9
6hypophosphatemic rickets, x-linked dominant11.6
7hypophosphatemic rickets, autosomal dominant11.3
8hypophosphatemic rickets, ar11.2
9nephrolithiasis/osteoporosis, hypophosphatemic, 111.2
10hypophosphatemic rickets, autosomal recessive, 211.2
11panostotic fibrous dysplasia11.2
12x-linked hypophosphatemic rickets11.0
13rickets, vitamin d-resistant, type iia11.0
14hypophosphatemic rickets10.7
15rickets10.7
16oncogenic osteomalacia10.5
17nephrolithiasis10.0
18osteomalacia10.0
19nephrocalcinosis10.0
20immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome9.7SLC34A1, SLC34A3
21testicular microlithiasis9.7SLC34A1, SLC34A3
22sensory peripheral neuropathy9.6SLC34A1, SLC34A3
23brugada syndrome9.6SLC34A1, SLC34A3
24commensal bacterial infectious disease9.5SLC34A1, SLC34A3
25protein-losing enteropathy9.5SLC34A1, SLC34A3
26tuberous sclerosis-19.4SLC34A1, SLC34A3
27neutropenia9.2SLC34A1, SLC34A3

Graphical network of the top 20 diseases related to Hereditary Hypophosphatemic Rickets:



Diseases related to hereditary hypophosphatemic rickets

Symptoms for Hereditary Hypophosphatemic Rickets

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UMLS symptoms related to Hereditary Hypophosphatemic Rickets:


arthralgia, bone pain

Drugs & Therapeutics for Hereditary Hypophosphatemic Rickets

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

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1vitamin dPhase 31607
2
ErgocalciferolNutraceuticalPhase 3121150-14-65280793
Synonyms:
'Ergosterol irradiated'
(+)-Vitamin D2
(3-beta,5Z,7E,22E)-9,10-Secoergosta-5,7,10,(19),22-tetraen-3-ol
(3S,5Z,7E,14xi,17alpha,22E)-9,10-secoergosta-5,7,10,22-tetraen-3-ol
(3S,5Z,7E,22E)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(3S,5Z,7E,22E)-9,10-secoergosta-5,7,10,22-tetraen-3-ol
(3beta,5Z,7E,22E)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(3beta,5Z,7e,22e)-9,10-Secoergosta-5,7,10(19),22-tetraen-3-ol
(5E,7E,22E)-9,10-Secoergosta-5,7,10,22-tetraen-3-ol
(5Z,7E,22E)-(3S)-9,10-seco-5,7,10(19),22-ergostatetraen-3-ol
(5Z,7E,22E)-(3S)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(5Z,7e,22e)-(3S)-9,10-Seco-5,7,10(19),22-ergostatetraen-3-ol
(5Z,7e,22e)-(3S)-9,10-Secoergosta-5,7,10(19),22-tetraen-3-ol
22-Tetraen 3beta 9,10,Secoergosta-5,7,10(19)-ol
31316-19-5
4-Methylene-3-[2-[tetrahydro-7a-methyl-1-(1,4,5-trimethyl-2-hexenyl)-4(3aH)-indanylidene]ethylidene]-Cyclohexanol
47768_SUPELCO
50-14-6
7489-18-1
7E677DC1-E1C4-4FC5-8F4A-BCE1857F7E87
8017-28-5
9,10,Secoergosta-5,7,10(19),22-tetraen 3.beta.-ol
9,10-Seco(5Z,7E,22E)-5,7,10(19),22-ergostatetraen-3-ol
9,10-Secoergosta-5,7,10(19),22-tetraen-3-beta-ol
9,10-Secoergosta-5,7,10(19),22-tetraen-3b-ol
95220_FLUKA
95220_SIGMA
AC-1355
AC1L1FIE
AC1NQXLH
AC1NS4DE
AC1NS9GI
AC1NSSVD
AC1NWAM3
AC1O5EDK
AC1O6WAM
ACon1_002187
Activated ergosterol
BPBio1_000418
BSPBio_000380
BSPBio_001974
Buco-D
C05441
C28H44O
CALCIFEROL IN A GELATIN MATRIX
CALCIFEROL, U.S.P.
CHEBI:28934
CHEMBL1536
CID11003810
CID3249
CID5280793
CID5315257
CID5353610
CID5356615
CID5702050
CID6432478
CID6536972
Calciferol
Calciferol (TN)
Calciferol (vitamin D2)
Calciferolum
Calciferon 2
Condacaps
Condocaps
Condol
Crtron
Crystallina
D-Arthin
D-Tracetten
D00187
DB00153
Daral
Davitamon D
Davitin
De-rat concentrate
Decaps
Dee-Osterol
Dee-Ron
Dee-Ronal
Dee-Roual
Deltalin
Deratol
Detalup
Diactol
Divit urto
Doral
Drisdol
Drisdol (TN)
E5750_SIGMA
EINECS 200-014-9
Ercalciol
Ergocalciferol
Ergocalciferol (D2)
Ergocalciferol (JP15/USP)
Ergocalciferol [INN:BAN:JAN]
Ergocalciferol oil
Ergocalciferol: Vitamin D
 
Ergocalciferolo
Ergocalciferolo [DCIT]
Ergocalciferols
Ergocalciferolum
Ergocalciferolum [INN-Latin]
Ergorone
Ergosterol activated
Ergosterol irradiated
Ergosterol, irradiated
Ertron
Fortodyl
Geltabs
Geltabs Vitamin D
HMS1920K20
HMS2091B19
HMS502I07
HSDB 819
Haliver
Hi-Deratol
Hyperkil
I05-0022
IDI1_000805
Infron
Irradiated ergosta-5,7,22-trien-3-beta-ol
Irradiated ergosta-5,7,22-trien-3.beta.-ol
Irradiated ergosta-5,7,22-trien-3beta-ol
Irradiated ergosterol
LMST03010001
LMST03010014
LS-3228
MEGxm0_000466
MLS001332467
MLS001332468
Metadee
Mina D2
MolPort-001-740-057
MolPort-001-793-930
MolPort-002-526-645
MolPort-003-666-178
MolPort-006-822-629
Mulsiferol
Mykostin
NCGC00142497-01
NCGC00179579-01
NCGC00179579-02
NSC 62792
NSC62792
Novovitamin-D
Oleovitamin D
Oleovitamin D, Synthetic
Oleovitamin D2
Osteil
Ostelin
Prestwick3_000420
Prestwick_554
Radiostol
Radstein
Radsterin
Rodine C
Rodinec
SMR000857106
SPECTRUM1500276
ST057150
STOCK1N-53397
Shock-ferol
Shock-ferol sterogyl
Sorex C.R
Sorex C.R.
Spectrum5_000666
Sterogyl
Synthetic Vitamin D
UNII-VS041H42XC
Uvesterol D
Uvesterol-D
VITAMIN D2
VITAMIN D2 WATER DISPERSABLE U.S.P.
VITAMIN_D2
Vigantol
Vio D
Vio-D
Viostdrol
Viosterol
Viosterol in Oil
Vitamin D2
Vitamin- D2
Vitamin-?D2
Vitamina D2
Vitavel-D
WLN: L56 FYTJ A1 BY1&1U1Y1&Y1&1 FU2U- BL6YYTJ AU1 DQ
ZINC04474571
ZINC04629876
beta-Ol
bmse000510
component of Geltabs Vitamin D
delta-Arthin
delta-Tracetten
ergocalciferol
vitamin d-2
3
Salmon Calcitonin9247931-85-116129616
Synonyms:
135506-95-5
47931-85-1
Astronin
Biocalcin
Bionocalcin
C028815
C06865
C145H239N43O48S2
CALCITONIN, SALMON
Cadens
Calciben
Calcihexal
Calcimar
Calcimar (TN)
Calcimonta
Calcinil
Calcioton
Calcitonin (Salmon Synthetic)
Calcitonin (salmon)
Calcitonin 1 precursor
Calcitonin Salmon
Calcitonin [USAN:INN:BAN:JAN]
Calcitonin salmon
Calcitonin salmon (USAN/INN)
Calcitonin salmon (synthesis)
Calcitonin salmon (synthesis) (JAN)
Calcitonin salmon recombinant
Calcitonin vom lachs
Calcitonin, salmar
Calcitonin, salmon
Calcitonin, salmon, for bioassay
Calcitonin,salmon
Calcitonin-salmon
Calcitonina
Calcitonine de saumon
Calcitoran
Calco
Calogen
Calsynar
Calsynar Lyo L
Caltine
Casalm
Catonin
Cibacalcin
Cibacalcine
Citonina
 
D00249
EINECS 256-342-8
Eptacalcin
Forcaltonin
Fortical
Fortical (TN)
Ipocalcin
Isi-calcin
Kalsimin
Karil
LS-48624
Miacalcic
Miacalcin
Miacalcin (TN)
Miracalcic
Oseototal
Osseocalcina
Osteobion
Osteovis
Ostosalm
Ostostabil
Porostenina
Prontocalcin
Quosten
Riostin
Rulicalcin
Salcat
Salcatonin
Salcatyn
Salmocalcin
Salmofar
Salmon calcitonin
Salmon calcitonin I
Salmon calcitonin-(I-32)
Salmotonin
Sical
Stalcin
Staporos
Steocin
TZ-CT
Thyrocalcitonin (salmon)
Tonocalcin
UNII-7SFC6U2VI5
Ucecal
recombinant salmon calcitonin
salmon calcitonin (1-32)
synthetic salmon calcitonin
4calcitonin104
5CALCITONIN GENE-RELATED PEPTIDE92
6
Teriparatide13052232-67-416133850
Synonyms:
52232-67-4
D06078
Forteo
Forteo (TN)
 
TERIPARATIDE
Teriparatide (USAN/INN)
Teriparatide (genetical recombination)
Teriparatide (genetical recombination) (JAN)
Teriparatide recombinant human
7
Iron10807439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
 
Ed-In-Sol
Eisen
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro
8glucocorticoids4756
9
Sevelamer7352757-95-6, 152751-57-03085017
Synonyms:
Sevelamer
 
Sevelamero
Sevelamerum
Sévélamer
10
Alfacalcidol5041294-56-85282181
Synonyms:
(5Z,7e)-9,10-Seco-5,7,10(19)-cholestatrien-1alpha,3beta-diol
1-Hydroxycholecalciferol
1-hydroxycholecalciferol
1alpha-Hydroxy-vitamin D3
 
1alpha-hydroxycholecalciferol
1alpha-hydroxyvitamin D3
9,10-Secocholesta-5,7,10(19)-triene-1alpha,3beta-diol
Alfacalcidolum
Alsiodol
11
Calcitriol19432222-06-3134070, 5280453
Synonyms:
(1R,3S)-5-{2-[(1R,3aS,7aR)-1-((R)-5-Hydroxy-1,5-dimethyl-hexyl)-7a-methyl-octahydro-inden-4-ylidene]-ethylidene}-4-methylene-cyclohexane-1,3-diol
(1R,3S,5Z)-5-[(2E)-2-[(1R,3aS,7aR)-1-[(2R)-6-hydroxy-6-methylheptan-2-yl]-7a-methyl-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]-4-methylidenecyclohexane-1,3-diol
(1S,3R,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol
(1S,3R,5Z,7E)-9,10-secocholesta-5,7,10-triene-1,3,25-triol
(1S,3R,5Z,7e)-9,10-Secocholesta-5,7,10-triene-1,3,25-triol
(1alpha,3beta,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol
(1alpha,3beta,5Z,7e)-9,10-Secocholesta-5,7,10(19)-triene-1,3,25-triol
(3b,5Z,7E)-9,10-Secocholesta-5,7,10(19)-trienetriol
(5Z,7E)-(1S,3R)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol
(5Z,7E)-9,10-Secocholesta-5,7,10(19)-triene-1-alpha,3-beta,25-triol
(5Z,7E)-9,10-Secocholesta-5,7,10(19)-triene-1alpha,3beta,25-triol
(5Z,7e)-(1S,3R)-9,10-Secocholesta-5,7,10(19)-triene-1,3,25-triol
1 alpha,25-Dihydroxyvitamin D3
1,25 (OH)2 D3
1,25 Dihydroxycholecalciferol
1,25(OH)2-20epi-D3
1,25(OH)2D3 & CD4
1,25(OH2)D3
1,25-(OH)2-D3
1,25-(OH)2D3
1,25-DHCC
1,25-DIHYDROXYCHOLECALCIFEROL
1,25-Dihydroxycholecalciferol
1,25-Dihydroxycholecaliferol
1,25-Dihydroxyvitamin D
1,25-Dihydroxyvitamin D3
1,25-dihydroxy vitamin D3
1,25-dihydroxy-20-epi-Vitamin D3
1,25-dihydroxycholecalciferol
1,25D3
1-alpha,-1,25-Dihydroxyvitamin D3
1-alpha,25-Dihydroxycholecalciferol
1-alpha,25-Dihydroxyvitamin D3
1-alpha-25-Dihydroxyvitamin D3
1-alpha-25-dihydroxyvitamin D3
1.Alpha.,25-Dihydroxy-26,27-hexadeuterovitamin D3
17936_FLUKA
17936_SIGMA
1a,25-(OH)2D3
1a,25-Dihydroxycholecalciferol
1a,25-Dihydroxyvitamin D3
1alpha,25(OH)2-D3
1alpha,25(OH)2D3
1alpha,25-Dihydroxycholecalciferol
1alpha,25-Dihydroxyvitamin D
1alpha,25-Dihydroxyvitamin D3
1db1
1α,25(OH)2D3
1α,25-dihydroxycholecalciferol
1α,25-dihydroxyvitamin D3
20-epi-1alpha,25-dihydroxycholecaliferol
25-Dihydroxycholecalciferol
32222-06-3
5-{2-[1-(5-hydroxy-1,5-dimethyl-hexyl)-7a-methyl-octahydro-inden-4-ylidene]-ethylidene}-4-methylene-cyclohexane-1,3-diol
9,10-Seco(5Z,7E)-5,7,10(19)-cholestatriene-1alpha,3beta,25-triol
9,10-Secocholesta-5,7,10(19)-triene-1,3,25-triol, (1.alpha.,3.beta,.5Z,7E)- & CD4
9,10-seco(5Z,7E)-5,7,10(19)-cholestatriene-1alpha, 3beta, 25-triol
AC-1859
AC1NQX1S
 
Ambap32222-06-3
Asentar
BCBcMAP01_000160
BML2-E03
BSPBio_001287
C01673
CCRIS 5522
CD-2027
CHEBI:17823
CHEMBL846
CID5280453
CPD000466393
Calcijex
Calcijex, Silkis, Rocaltrol, Topitriol, Cholecalciferol,Calcitriol
Calcitriol
Calcitriol (JAN/USAN/INN)
Calcitriol [USAN:INN:BAN:JAN]
Calcitriolum
Calcitriolum [INN-Latin]
D00129
D1530_SIGMA
DN 101
DN-101
Decostriol
Dihydroxyvitamin D3
EINECS 250-963-8
HMS1361A09
HMS1791A09
HMS1989A09
HMS2051F06
HMS2089N03
HSDB 3482
IDI1_033757
LMST03020258
LS-53093
MC-1288
MC1288
MLS000759536
MLS001424122
MolPort-002-045-698
NCGC00161327-01
NCGC00161327-04
Ro 21-5535
Ro 215535
Ro-21-5535
Rocaltrol
Rocaltrol (TN)
S1466_Selleck
SAM001246772
SMR000466393
Silkis
Soltriol
Spectrum5_002061
Topitriol
Toptriol
U 49562
Vectical
ZINC03924790
calcitriol
vit D

Interventional clinical trials:

(show all 25)
idNameStatusNCT IDPhase
1The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone FormersRecruitingNCT01526304Phase 4
2Therapeutic Use of Oral Sodium Phosphate (Z-521) in Primary Hypophosphatemic RicketsCompletedNCT01237288Phase 3
3Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic RicketsCompletedNCT00417612Phase 3
4Efficacy and Safety of KRN23 Versus Oral Phosphate and Active Vitamin D Treatment in Pediatric Patients With X Linked Hypophosphatemia (XLH)RecruitingNCT02915705Phase 3
5Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH)Active, not recruitingNCT02526160Phase 3
6Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH)Active, not recruitingNCT02537431Phase 3
7An Extension Study of KRN23 in Adults With X-Linked HypophosphatemiaCompletedNCT01571596Phase 1, Phase 2
8A Repeated Study of KRN23 in Adults With X-Linked HypophosphatemiaCompletedNCT01340482Phase 1, Phase 2
9Growth Hormone Treatment in Children With Hypophosphatemic RicketsCompletedNCT02720770Phase 1, Phase 2
10Study of KRN23, a Recombinant Fully Human Monoclonal Antibody Against FGF23, in Pediatric Subjects With X-linked Hypophosphatemia (XLH)Active, not recruitingNCT02163577Phase 2
11Study of the Safety, Pharmacodynamics and Efficacy of KRN23 in Children From 1 to 4 Years Old With X-linked Hypophosphatemia (XLH)Active, not recruitingNCT02750618Phase 2
12Long-Term Extension Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH)Enrolling by invitationNCT02312687Phase 2
13A Study of KRN23 in X-linked HypophosphatemiaCompletedNCT00830674Phase 1
14A Study of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/OsteomalaciaCompletedNCT02181764Phase 1
15Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic RicketsRecruitingNCT00195936Phase 1
16Effects of GH on Body Proportions and Final Height in X-Linked Hypophosphatemic RicketsActive, not recruitingNCT00473187Phase 1
17Cinacalcet for Fibroblast Growth Factor 23 (FGF23)-Mediated Hypophosphatemia (Hypophosphatemic Rickets)TerminatedNCT01748812Phase 1
18Calcitonin for Treating X-linked HypophosphatemiaCompletedNCT01652573
19Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent PatientsCompletedNCT01578824
20Serum FGF-23 and Vitamin D DeficiencyCompletedNCT01102751
21Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Project.RecruitingNCT02233322
22Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced OsteomalaciaRecruitingNCT01660308
23Study of the Diagnostic Value of Stable Calcium Isotope Profiling in Bone and Calcium DisordersRecruitingNCT02252679
24Hypophosphatemic Rickets in NorwayActive, not recruitingNCT01057186
25Calcimimetics in Hypophosphatemic RicketsEnrolling by invitationNCT00844740

Search NIH Clinical Center for Hereditary Hypophosphatemic Rickets

Inferred drug relations via UMLS66/NDF-RT44:

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Genetic Tests for Hereditary Hypophosphatemic Rickets

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Anatomical Context for Hereditary Hypophosphatemic Rickets

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MalaCards organs/tissues related to Hereditary Hypophosphatemic Rickets:

34
Bone, Kidney

Animal Models for Hereditary Hypophosphatemic Rickets or affiliated genes

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Publications for Hereditary Hypophosphatemic Rickets

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Articles related to Hereditary Hypophosphatemic Rickets:

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

Variations for Hereditary Hypophosphatemic Rickets

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Expression for genes affiliated with Hereditary Hypophosphatemic Rickets

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Search GEO for disease gene expression data for Hereditary Hypophosphatemic Rickets.

Pathways for genes affiliated with Hereditary Hypophosphatemic Rickets

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GO Terms for genes affiliated with Hereditary Hypophosphatemic Rickets

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

idNameGO IDScoreTop Affiliating Genes
1brush borderGO:00059039.3SLC34A1, SLC34A3
2brush border membraneGO:00315269.1SLC34A1, SLC34A3
3vesicleGO:00319829.0SLC34A1, SLC34A3
4apical plasma membraneGO:00163248.8SLC34A1, SLC34A3

Biological processes related to Hereditary Hypophosphatemic Rickets according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1phosphate ion transportGO:00068179.5SLC34A1, SLC34A3
2sodium-dependent phosphate transportGO:00443419.5SLC34A1, SLC34A3
3phosphate ion transmembrane transportGO:00354359.4SLC34A1, SLC34A3
4cellular phosphate ion homeostasisGO:00306439.4SLC34A1, SLC34A3
5response to magnesium ionGO:00320269.1SLC34A1, SLC34A3
6sodium ion transmembrane transportGO:00357259.0SLC34A1, SLC34A3

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

idNameGO IDScoreTop Affiliating Genes
1sodium:phosphate symporter activityGO:00054369.1SLC34A1, SLC34A3
2inorganic phosphate transmembrane transporter activityGO:00053159.0SLC34A1, SLC34A3
3sodium-dependent phosphate transmembrane transporter activityGO:00153218.8SLC34A1, SLC34A3

Sources for Hereditary Hypophosphatemic Rickets

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet