MCID: VTM007
MIFTS: 44

Vitamin D-Dependent Rickets Type Ii malady

Category: Genetic diseases (common)

Aliases & Classifications for Vitamin D-Dependent Rickets Type Ii

About this section
Sources:
22GeneTests, 47Novoseek, 24GTR, 65UMLS
See all MalaCards sources

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

Name: Vitamin D-Dependent Rickets Type Ii 22
Vitamin D-Dependent Rickets, Type Ii 47 24
Vitamin D-Dependent Rickets, Type 2a 65
 
Familial Hypophosphatemic Rickets 65
Rickets-Alopecia Syndrome 22

Classifications:



External Ids:

UMLS65 C3536983, C0342646

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 difficulty standing, bone pain and muscle weakness. 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 Regulation of nuclear SMAD2/3 signaling and Mineral absorption. Affiliated tissues include bone, cervix and kidney, and related mouse phenotypes are craniofacial and limbs/digits/tail.

Related Diseases for Vitamin D-Dependent Rickets Type Ii

About this section

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 47)
idRelated DiseaseScoreTop Affiliating Genes
1rickets, vitamin d-resistant, type iia11.5
2rickets10.9
3alopecia10.4
4hypertrophic elongation of cervix10.2PTH, VDR
5congenital nervous system abnormality10.2PTH, VDR
6african tick-bite fever10.1PTH, VDR
7restless legs syndrome 110.1CYP27B1, VDR
8myelofibrosis10.1
9antley-bixler syndrome10.1PTH, VDR
10tuberous sclerosis-110.0CYP27B1, PTH
11glossopharyngeal nerve paralysis9.9BGLAP, PTH
12fibrogenesis imperfecta ossium9.9BGLAP, PTH
13parathyroid adenoma9.9BGLAP, PTH
14bone inflammation disease9.9BGLAP, PTH
15thymus mucoepidermoid carcinoma9.9PTH, VDR
16diabetic angiopathy9.9BGLAP, PTH
17dominant beta-thalassemia9.9BGLAP, VDR
18epileptic encephalopathy, early infantile, 269.9BGLAP, PTH
19acrodermatitis chronica atrophicans9.9BGLAP, PTH
20bone structure disease9.8BGLAP, PTH
21anterior cruciate ligament tears9.8BGLAP, VDR
22chronic lymphocytic leukemia9.8PTH, VDR
23articulation disorder9.8BGLAP, PTH
24eosinophilic pneumonia9.8BGLAP, PTH
25calcium metabolism disease9.8BGLAP, VDR
26osteopetrosis9.8BGLAP, PTH
27primary bacterial infectious disease9.7BGLAP, PTH
28familial abdominal aortic aneurysm9.7BGLAP, VDR
29pulmonary neuroendocrine tumor9.7BGLAP, PTH
30hypervitaminosis a9.6CYP27B1, PTH, VDR
31pachyonychia congenita9.6CYP27B1, PTH, VDR
32primary ciliary dyskinesia9.5BGLAP, VDR
33mitochondrial metabolism disease9.4BGLAP, PTH
34primary hyperparathyroidism9.4BGLAP, PTH, VDR
35leukodystrophy9.4BGLAP, PTH, VDR
36dementia9.4BGLAP, PTH, VDR
37chromosomal disease9.4BGLAP, PTH, VDR
38bone development disease9.4BGLAP, PTH, VDR
39angelucci's syndrome9.4BGLAP, PTH, VDR
40small cell cancer of the lung, somatic9.3BGLAP, PTH
41hepatic adenoma, somatic9.1BGLAP, CYP27B1, VDR
42vkorc1-related altered drug metabolism8.9BGLAP, CYP27B1, PTH, VDR
43blood coagulation disease8.9BGLAP, CYP27B1, PTH, VDR
44pancreatic steatorrhea8.9BGLAP, CYP27B1, PTH, VDR
45nephrocalcinosis8.9BGLAP, CYP27B1, PTH, VDR
46low tension glaucoma8.8BGLAP, CYP27B1, PTH, VDR
47chylomicron retention disease8.8BGLAP, 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

About this section

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


difficulty standing, bone pain, muscle weakness

Drugs & Therapeutics for Vitamin D-Dependent Rickets Type Ii

About this section

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

(show all 39)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Contraceptives, OralPhase 33734
2MitogensPhase 3, Phase 2, Phase 11386
3VitaminsPhase 33857
4vitamin dPhase 31524
5HormonesPhase 3, Phase 1, Phase 211748
6ImmunoglobulinsPhase 3, Phase 24477
7Antibodies, MonoclonalPhase 3, Phase 22413
8Immunoglobulin GPhase 3, Phase 2146
9AntibodiesPhase 3, Phase 24477
10Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 1, Phase 29988
11Hormone AntagonistsPhase 1, Phase 210002
12Cinacalcet HydrochloridePhase 169
13Calcimimetic AgentsPhase 159
14
Salmon Calcitoninapproved, investigational5047931-85-116129616
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 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
15
Ironapproved10217439-89-623925
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
Dexiron
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
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feraheme
Feronate
Ferretts
Ferrlecit
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
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
Infufer
Iron
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Venofer
Vitedyn-Slo
Yieronia
fer
ferrous ascorbate
ferrous fumarate
ferrous gluconate
ferrous glycine sulfate
ferrous iron
ferrous succinate
ferrous sulfate
hierro
16
Teriparatideapproved, investigational12952232-67-416133850
Synonyms:
52232-67-4
D06078
Forteo
 
Forteo (TN)
TERIPARATIDE
Teriparatide (USAN/INN)
Teriparatide (genetical recombination)
Teriparatide (genetical recombination) (JAN)
17
Sevelamerapproved72152751-57-03085017
Synonyms:
Renagel
Renvela
Sevelamer
Sevelamer Carbonate
 
Sevelamero
Sevelamerum
Sévélamer
sevelamer carbonate
sevelamer hydrochloride
18
Ergocalciferolapproved, nutraceutical92350-14-65280793
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 D
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
19
Alfacalcidolapproved, nutraceutical4341294-56-85282181
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
20
Calcitriolapproved, nutraceutical16132222-06-3134070, 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
21Calcitonin Gene-Related Peptide50
22calcitonin50
23Vasodilator Agents2926
24Micronutrients3901
25Bone Density Conservation Agents2600
26Ergocalciferols923
27Cholinergic Agents3243
28Neurotransmitter Agents14795
29Methacholine Chloride79
30Respiratory System Agents3931
31Trace Elements3900
32Peripheral Nervous System Agents18510
33Ferrous gluconate11
34glucocorticoids3896
35Calcium, Dietary4678
36Hydroxycholecalciferols92
37CalciferolNutraceutical1074
38Vitamin D2Nutraceutical923
39Iron SupplementNutraceutical159

Interventional clinical trials:

(show all 24)
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
4Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH)RecruitingNCT02526160Phase 3
5Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH)RecruitingNCT02537431Phase 3
6Growth Hormone Treatment in Children With Hypophosphatemic RicketsCompletedNCT02720770Phase 1, Phase 2
7A Repeated Study of KRN23 in Adults With X-Linked HypophosphatemiaCompletedNCT01340482Phase 1, Phase 2
8An Extension Study of KRN23 in Adults With X-Linked HypophosphatemiaCompletedNCT01571596Phase 1, Phase 2
9Study of the Safety, Pharmacodynamics and Efficacy of KRN23 in Children From 1 to 4 Years Old With X-linked Hypophosphatemia (XLH)RecruitingNCT02750618Phase 2
10Study of KRN23, a Recombinant Fully Human Monoclonal Antibody Against FGF23, in Pediatric Subjects With X-linked Hypophosphatemia (XLH)Active, not recruitingNCT02163577Phase 2
11Long-Term Extension Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH)Enrolling by invitationNCT02312687Phase 2
12A Study of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/OsteomalaciaCompletedNCT02181764Phase 1
13A Study of KRN23 in X-linked HypophosphatemiaCompletedNCT00830674Phase 1
14Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic RicketsRecruitingNCT00195936Phase 1
15Effects of GH on Body Proportions and Final Height in X-Linked Hypophosphatemic RicketsActive, not recruitingNCT00473187Phase 1
16Cinacalcet for Fibroblast Growth Factor 23 (FGF23)-Mediated Hypophosphatemia (Hypophosphatemic Rickets)TerminatedNCT01748812Phase 1
17Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent PatientsCompletedNCT01578824
18Calcitonin for Treating X-linked HypophosphatemiaCompletedNCT01652573
19Serum FGF-23 and Vitamin D DeficiencyCompletedNCT01102751
20Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Project.RecruitingNCT02233322
21Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced OsteomalaciaRecruitingNCT01660308
22Study of the Diagnostic Value of Stable Calcium Isotope Profiling in Bone and Calcium DisordersRecruitingNCT02252679
23Hypophosphatemic Rickets in NorwayActive, not recruitingNCT01057186
24Calcimimetics in Hypophosphatemic RicketsEnrolling by invitationNCT00844740

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

Genetic Tests for Vitamin D-Dependent Rickets Type Ii

About this section

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

id Genetic test Affiliating Genes
1 Vitamin D-Dependent Rickets Type Ii22 VDR

Anatomical Context for Vitamin D-Dependent Rickets Type Ii

About this section

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

33
Bone, Cervix, Kidney, Prostate, Lung, Testes, Endothelial

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

About this section

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.8CYP27B1, PTH, VDR
2MP:00053718.7CYP27B1, PTH, VDR

Publications for Vitamin D-Dependent Rickets Type Ii

About this section

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
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
3
Alopecia in vitamin D-dependent rickets type II responding to 1I+-hydroxycholecalciferol. (21118628)
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
Healing of rickets during vitamin D therapy despite defective vitamin D receptors in two siblings with vitamin D-dependent rickets type II. (7815207)
1995
13
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
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
The combined use of intravenous and oral calcium for the treatment of vitamin D dependent rickets type II (VDDRII). (8396512)
1993
17
Vitamin D-dependency rickets type II: truncated vitamin D receptor in three kindreds. (8388340)
1993
18
Vitamin D dependent rickets type II with myelofibrosis and immune dysfunction. (1655462)
1991
19
Clinical and biochemical findings in parents of children with vitamin D-dependent rickets Type II. (1653381)
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
Lymphocyte cell lines from vitamin D-dependent rickets type II show functional defects in the 1 alpha,25-dihydroxyvitamin D3 receptor. (2160380)
1990
23
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
24
Prenatal diagnosis of vitamin D-dependent rickets, type II: response to 1,25-dihydroxyvitamin D in amniotic fluid cells and fetal tissues. (2169482)
1990
25
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
26
Two siblings with vitamin-D-dependent rickets type II: no recurrence of rickets for 14 years after cessation of therapy. (2558018)
1989
27
Abnormal binding of vitamin D receptors to deoxyribonucleic acid in a kindred with vitamin D-dependent rickets, type II. (2537329)
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
Rapid diagnosis of vitamin D-dependent rickets type II by use of phytohemagglutinin-stimulated lymphocytes. (3011315)
1986
32
The common marmoset as an animal model for vitamin D-dependent rickets, type II. (3012983)
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

About this section

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

About this section
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

About this section

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

About this section

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell proliferationGO:00082859.4CYP27B1, VDR
2positive regulation of vitamin D 24-hydroxylase activityGO:00109809.3CYP27B1, VDR
3response to ethanolGO:00454719.3BGLAP, PTH
4regulation of bone mineralizationGO:00305009.2BGLAP, CYP27B1
5bone mineralizationGO:00302829.1BGLAP, CYP27B1
6response to estrogenGO:00436278.9BGLAP, CYP27B1
7response to vitamin DGO:00332808.5BGLAP, CYP27B1, PTH

Sources for Vitamin D-Dependent Rickets Type Ii

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet