MCID: VTM007
MIFTS: 40

Vitamin D-Dependent Rickets Type Ii malady

Category: Genetic diseases (common)

Aliases & Classifications for Vitamin D-Dependent Rickets Type Ii

About this section
Sources:
24GeneTests, 26GTR, 49Novoseek, 67UMLS
See all MalaCards sources

Aliases & Descriptions for Vitamin D-Dependent Rickets Type Ii:

Name: Vitamin D-Dependent Rickets Type Ii 24 26
Vitamin D-Dependent Rickets, Type Ii 49
Vitamin D-Dependent Rickets, Type 2a 67
 
Familial Hypophosphatemic Rickets 67
Rickets-Alopecia Syndrome 24

Classifications:



Summaries for Vitamin D-Dependent Rickets Type Ii

About this section
MalaCards based summary: Vitamin D-Dependent Rickets Type Ii, also known as vitamin d-dependent rickets, type ii, is related to rickets, vitamin d-resistant, type iia and rickets, and has symptoms including muscle weakness, bone pain and difficulty standing. An important gene associated with Vitamin D-Dependent Rickets Type Ii is VDR (Vitamin D (1,25- Dihydroxyvitamin D3) Receptor), and among its related pathways are Nuclear receptors in lipid metabolism and toxicity and Tuberculosis. Affiliated tissues include bone, kidney and skin, and related mouse phenotypes are craniofacial and limbs/digits/tail.

Related Diseases for Vitamin D-Dependent Rickets Type Ii

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Diseases in the Vitamin D-Dependent Rickets, Type I family:

vitamin d-dependent rickets type ii

Diseases related to Vitamin D-Dependent Rickets Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1rickets, vitamin d-resistant, type iia11.3
2rickets10.8
3alopecia10.3
4opthalmomandibulomelic dysplasia10.1PTH, VDR
5sensory peripheral neuropathy10.1PTH, VDR
6cervix disease10.1PTH, VDR
7loeys-dietz syndrome10.0PTH, VDR
8astrakhan spotted fever10.0PTH, VDR
9brugada syndrome10.0CYP27B1, VDR
10myelofibrosis10.0
11breast mucoepidermoid carcinoma9.9PTH, VDR
12silver-russell syndrome due to 7p11.2p13 microduplication9.9BGLAP, VDR
13tuberous sclerosis-19.9CYP27B1, PTH
14achondrogenesis9.9BGLAP, PTH
15cranial nerve palsy9.9BGLAP, PTH
16parathyroid transitional clear cell adenoma9.9BGLAP, PTH
17gestational diabetes9.8BGLAP, PTH
18dyscalculia9.8BGLAP, PTH
19obesity, severe bmiq99.8BGLAP, PTH
20mixed cell type adenoma of parathyroid9.8BGLAP, PTH
21echolalia9.8BGLAP, PTH
22commensal bacterial infectious disease9.7BGLAP, PTH
23ovarian insufficiency, familial9.7BGLAP, PTH
24substance dependence9.6CYP27B1, PTH, VDR
25atrial standstill9.6BGLAP, VDR
26chronic myelomonocytic leukemia9.6CYP27B1, PTH, VDR
27protein-losing enteropathy9.6CYP27B1, PTH, VDR
28prostate cancer, progression and metastasis of9.5BGLAP, VDR
29brain stem angioblastoma9.5BGLAP, PTH
30gemistocytic astrocytoma9.5BGLAP, PTH
31bacillary angiomatosis9.5BGLAP, PTH, VDR
32angelucci's syndrome9.5BGLAP, PTH, VDR
33acquired hyperkeratosis9.5BGLAP, PTH, VDR
34mild pre-eclampsia9.4BGLAP, PTH, VDR
35allergic conjunctivitis9.4BGLAP, PTH, VDR
36physical disorder9.4BGLAP, PTH, VDR
37bone deterioration disease9.4BGLAP, PTH, VDR
38leukodystrophy9.4BGLAP, PTH, VDR
39pseudobulbar palsy9.4BGLAP, PTH, VDR
40lung occult small cell carcinoma9.4BGLAP, PTH, VDR
41small cell cancer of the lung, somatic9.3BGLAP, PTH
42hepatic adenoma, somatic9.1BGLAP, CYP27B1, VDR
43weaver syndrome 18.9BGLAP, CYP27B1, PTH, VDR
44capillariasis8.9BGLAP, CYP27B1, PTH, VDR
45interval angle-closure glaucoma8.9BGLAP, CYP27B1, PTH, VDR
46chylomicron retention disease8.9BGLAP, CYP27B1, PTH, VDR

Graphical network of the top 20 diseases related to Vitamin D-Dependent Rickets Type Ii:



Diseases related to vitamin d-dependent rickets type ii

Symptoms for Vitamin D-Dependent Rickets Type Ii

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UMLS symptoms related to Vitamin D-Dependent Rickets Type Ii:


muscle weakness, bone pain, difficulty standing

Drugs & Therapeutics for Vitamin D-Dependent Rickets Type Ii

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Drugs for Vitamin D-Dependent Rickets Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 41)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Ergocalciferolapproved, nutraceuticalPhase 3123250-14-65280793
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
2HormonesPhase 3, Phase 1, Phase 213979
3Hormone AntagonistsPhase 3, Phase 1, Phase 212778
4Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 3, Phase 1, Phase 212767
5vitamin dPhase 31653
6MitogensPhase 3, Phase 2, Phase 11526
7VitaminsPhase 35095
8ErgocalciferolsPhase 31232
9Trace ElementsPhase 35802
10Bone Density Conservation AgentsPhase 33266
11MicronutrientsPhase 35802
12ImmunoglobulinsPhase 3, Phase 26045
13Immunoglobulin GPhase 3, Phase 2265
14Antibodies, MonoclonalPhase 3, Phase 23795
15AntibodiesPhase 3, Phase 26045
16Vitamin D2NutraceuticalPhase 31232
17CalciferolNutraceuticalPhase 31334
18Cinacalcet HydrochloridePhase 169
19Calcimimetic AgentsPhase 169
20
Salmon Calcitoninapproved, investigational9147931-85-116129616
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
21
Teriparatideapproved, investigational13552232-67-416133850
Synonyms:
52232-67-4
D06078
Forteo
Forteo (TN)
 
TERIPARATIDE
Teriparatide (USAN/INN)
Teriparatide (genetical recombination)
Teriparatide (genetical recombination) (JAN)
Teriparatide recombinant human
22
Ironapproved11237439-89-623925
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
23
Sevelamerapproved7452757-95-6, 152751-57-03085017
Synonyms:
Sevelamer
 
Sevelamero
Sevelamerum
Sévélamer
24
Calcitriolapproved, nutraceutical20132222-06-3134070, 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
25
Alfacalcidolapproved, nutraceutical5241294-56-85282181
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
26Calcitonin Gene-Related Peptide91
27Vasodilator Agents3438
28Autonomic Agents9774
29Neurotransmitter Agents17734
30calcitonin103
31Peripheral Nervous System Agents22776
32Methacholine Chloride84
33Respiratory System Agents4818
34Cholinergic Agents3846
35glucocorticoids4920
36Calcium, Dietary5525
37Ferrous gluconate10
38Hematinics1630
39Hydroxycholecalciferols102
40Chelating Agents1365
41Iron SupplementNutraceutical175

Interventional clinical trials:

(show all 25)
idNameStatusNCT IDPhase
1The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone FormersUnknown statusNCT01526304Phase 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
7Growth Hormone Treatment in Children With Hypophosphatemic RicketsCompletedNCT02720770Phase 1, Phase 2
8An Extension Study of KRN23 in Adults With X-Linked HypophosphatemiaCompletedNCT01571596Phase 1, Phase 2
9A Repeated Study of KRN23 in Adults With X-Linked HypophosphatemiaCompletedNCT01340482Phase 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
13Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic RicketsUnknown statusNCT00195936Phase 1
14Effects of GH on Body Proportions and Final Height in X-Linked Hypophosphatemic RicketsUnknown statusNCT00473187Phase 1
15A Study of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/OsteomalaciaCompletedNCT02181764Phase 1
16A Study of KRN23 in X-linked HypophosphatemiaCompletedNCT00830674Phase 1
17Cinacalcet for Fibroblast Growth Factor 23 (FGF23)-Mediated Hypophosphatemia (Hypophosphatemic Rickets)TerminatedNCT01748812Phase 1
18Calcimimetics in Hypophosphatemic RicketsUnknown statusNCT00844740
19Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent PatientsCompletedNCT01578824
20Calcitonin for Treating X-linked HypophosphatemiaCompletedNCT01652573
21Serum FGF-23 and Vitamin D DeficiencyCompletedNCT01102751
22Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Project.RecruitingNCT02233322
23Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced OsteomalaciaRecruitingNCT01660308
24Study of the Diagnostic Value of Stable Calcium Isotope Profiling in Bone and Calcium DisordersRecruitingNCT02252679
25Hypophosphatemic Rickets in NorwayActive, not recruitingNCT01057186

Search NIH Clinical Center for Vitamin D-Dependent Rickets Type Ii

Genetic Tests for Vitamin D-Dependent Rickets Type Ii

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Genetic tests related to Vitamin D-Dependent Rickets Type Ii:

id Genetic test Affiliating Genes
1 Vitamin D-Dependent Rickets, Type 226
2 Vitamin D-Dependent Rickets Type Ii24 VDR

Anatomical Context for Vitamin D-Dependent Rickets Type Ii

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MalaCards organs/tissues related to Vitamin D-Dependent Rickets Type Ii:

35
Bone, Kidney, Skin

Animal Models for Vitamin D-Dependent Rickets Type Ii or affiliated genes

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MGI Mouse Phenotypes related to Vitamin D-Dependent Rickets Type Ii:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.5CYP27B1, PTH, VDR
2MP:00053718.8CYP27B1, PTH, VDR

Publications for Vitamin D-Dependent Rickets Type Ii

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Articles related to Vitamin D-Dependent Rickets Type Ii:

(show all 39)
idTitleAuthorsYear
1
Vitamin D - Dependent Rickets, Type II Case Report. (24757409)
2014
2
Alopecia in vitamin D-dependent rickets type II responding to 1I+-hydroxycholecalciferol. (21118628)
2010
3
Presence of a deletion mutation (c.716delA) in the ligand binding domain of the vitamin D receptor in an Indian patient with vitamin D-dependent rickets type II. (19921089)
2010
4
Vitamin D-dependent rickets type II: report of a novel mutation in the vitamin D receptor gene. (18426327)
2008
5
Vitamin D dependent rickets type II: late onset of disease and response to high doses of vitamin D. (18711299)
2008
6
Vitamin D-dependent rickets type II in a cat. (16167595)
2005
7
Vitamin D-dependent rickets Type II with alopecia: two case reports and review of the literature. (12956677)
2003
8
The role of the vitamin D receptor in regulating vitamin D metabolism: a study of vitamin D-dependent rickets, type II. (11344183)
2001
9
Targeted ablation of the vitamin D receptor: an animal model of vitamin D-dependent rickets type II with alopecia. (9275211)
1997
10
Vitamin-D dependent rickets type II. (8772913)
1996
11
Vitamin D3 elicits calcium response and activates blood monocyte-derived macrophages from patients with vitamin D dependent rickets type II. (8914979)
1996
12
Vitamin D dependent rickets type II and normal vitamin D receptor cDNA sequence. A cluster in a rural area of Cauca, Colombia, with more than 200 affected children. (7586652)
1995
13
Healing of rickets during vitamin D therapy despite defective vitamin D receptors in two siblings with vitamin D-dependent rickets type II. (7815207)
1995
14
Oral calcium treatment in vitamin D-dependent rickets type II. (7833085)
1994
15
Vitamin D-dependent rickets type II: regulation of human osteocalcin gene expression in cells with defective vitamin D receptors by 1,25-dihydroxyvitamin D-3, retinoic acid, and triiodothyronine. (7986828)
1994
16
Vitamin D-dependency rickets type II: truncated vitamin D receptor in three kindreds. (8388340)
1993
17
The combined use of intravenous and oral calcium for the treatment of vitamin D dependent rickets type II (VDDRII). (8396512)
1993
18
Clinical and biochemical findings in parents of children with vitamin D-dependent rickets Type II. (1653381)
1991
19
Vitamin D dependent rickets type II with myelofibrosis and immune dysfunction. (1655462)
1991
20
A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: utility of single- strand conformation polymorphism analysis for heterozygous carrier detection. (1652893)
1991
21
The effect of 1,25-dihydroxyvitamin D3 on the growth and differentiation of cultured human outer root sheath cells from normal subjects and patients with vitamin D-dependent rickets type II with alopecia. (1742246)
1991
22
Effect of long-term treatment with massive doses of 1 alpha-hydroxyvitamin D3 on calcium-phosphate balance in patients with vitamin D-dependent rickets type II. (2158205)
1990
23
Prenatal diagnosis of vitamin D-dependent rickets, type II: response to 1,25-dihydroxyvitamin D in amniotic fluid cells and fetal tissues. (2169482)
1990
24
25-Hydroxyvitamin D-24-hydroxylase in phytohemagglutinin-stimulated lymphocytes: intermediate bioresponse to 1,25-dihydroxyvitamin D3 of cells from parents of patients with vitamin D-dependent rickets type II. (2156884)
1990
25
Lymphocyte cell lines from vitamin D-dependent rickets type II show functional defects in the 1 alpha,25-dihydroxyvitamin D3 receptor. (2160380)
1990
26
Abnormal binding of vitamin D receptors to deoxyribonucleic acid in a kindred with vitamin D-dependent rickets, type II. (2537329)
1989
27
Two siblings with vitamin-D-dependent rickets type II: no recurrence of rickets for 14 years after cessation of therapy. (2558018)
1989
28
Vitamin D-dependent rickets type II: report of three cases. (3198838)
1988
29
Vitamin D-dependent rickets type II: extreme end organ resistance to 1,25-dihydroxy vitamin D3 in a patient without alopecia. (3024987)
1986
30
Bone in the marmoset: a resemblance to vitamin D-dependent rickets, type II. (3089562)
1986
31
The common marmoset as an animal model for vitamin D-dependent rickets, type II. (3012983)
1986
32
Rapid diagnosis of vitamin D-dependent rickets type II by use of phytohemagglutinin-stimulated lymphocytes. (3011315)
1986
33
Vitamin D-dependent rickets type II. Defective induction of 25-hydroxyvitamin D3-24-hydroxylase by 1,25-dihydroxyvitamin D3 in cultured skin fibroblasts. (3872316)
1985
34
Impaired stimulation of 25-hydroxyvitamin D-24-hydroxylase in fibroblasts from a patient with vitamin D-dependent rickets, type II. A form of receptor-positive resistance to 1,25-dihydroxyvitamin D3. (6313754)
1983
35
Interaction of 1,25-dihydroxyvitamin-D3 with keratinocytes and fibroblasts from skin of normal subjects and a subject with vitamin-D-dependent rickets, type II: a model for study of the mode of action of 1,25-dihydroxyvitamin D3. (6300167)
1983
36
A cellular defect in hereditary vitamin-D-dependent rickets type II: defective nuclear uptake of 1,25-dihydroxyvitamin D in cultured skin fibroblasts. (6262646)
1981
37
Vitamin D-dependent rickets type II. (6770981)
1980
38
Vitamin D-dependent rickets type II. (7354819)
1980
39
Vitamin-D-dependent rickets type II. Resistance of target organs to 1,25-dihydroxyvitamin D. (205789)
1978

Variations for Vitamin D-Dependent Rickets Type Ii

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Expression for genes affiliated with Vitamin D-Dependent Rickets Type Ii

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Search GEO for disease gene expression data for Vitamin D-Dependent Rickets Type Ii.

Pathways for genes affiliated with Vitamin D-Dependent Rickets Type Ii

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GO Terms for genes affiliated with Vitamin D-Dependent Rickets Type Ii

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Biological processes related to Vitamin D-Dependent Rickets Type Ii according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of vitamin D 24-hydroxylase activityGO:00109809.7CYP27B1, VDR
2positive regulation of keratinocyte differentiationGO:00456189.7CYP27B1, VDR
3calcium ion transportGO:00068169.6CYP27B1, VDR
4decidualizationGO:00466979.6CYP27B1, VDR
5bone mineralizationGO:00302829.4BGLAP, CYP27B1
6regulation of bone mineralizationGO:00305009.3BGLAP, CYP27B1
7response to estrogenGO:00436279.3BGLAP, CYP27B1
8response to nutrient levelsGO:00316679.1BGLAP, PTH
9cellular calcium ion homeostasisGO:00068749.1PTH, VDR
10response to ethanolGO:00454719.1BGLAP, PTH
11response to vitamin DGO:00332808.8BGLAP, CYP27B1, PTH
12skeletal system developmentGO:00015018.8BGLAP, PTH, VDR

Sources for Vitamin D-Dependent Rickets Type Ii

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet