MCID: THL013
MIFTS: 61

Thalassemia, Hispanic Gamma-Delta-Beta malady

Categories: Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Nephrological diseases, Endocrine diseases

Aliases & Classifications for Thalassemia, Hispanic Gamma-Delta-Beta

About this section
Sources:
2CDC, 11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 31ICD9CM, 34LifeMap Discovery®, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
See all MalaCards sources

Aliases & Descriptions for Thalassemia, Hispanic Gamma-Delta-Beta:

Name: Thalassemia, Hispanic Gamma-Delta-Beta 51 47 12 34
Beta-Thalassemia 51 70 23 47 24 53 69 49 38
Mediterranean Anemia 23 47 24 25 53 69
Beta Thalassemia 11 24 25 69 13 67
Cooley's Anemia 23 47 24 69 2 67
Erythroblastic Anemia 70 47 25 69
Beta Thalassemia Intermedia 47 67
Beta-Thalassemia Intermedia 53 26
Thalassemia, Beta Type 25 26
Beta-Thalassemia Major 53 26
 
Thalassemias, Beta- 51 47
Thalassemia Minor 69 67
Microcytemia, Beta Type 25
Beta Thalassemia Major 47
Beta Thalassemia Minor 47
Beta-Thalassemia Minor 26
Beta^+^ Thalassemia 67
Thalassemia Major 69
Cooley Anemia 53
B-Thal 69

Characteristics:

Orphanet epidemiological data:

53
beta-thalassemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide),1-9/1000000 (France),1-5/10000 (Europe); Age of onset: Childhood,Infancy; Age of death: adult
beta-thalassemia intermedia:
Inheritance: Autosomal recessive; Age of onset: Childhood
mediterranean anemia:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

OMIM51 613985
Disease Ontology11 DOID:12241
ICD1029 D56.1
ICD9CM31 282.44
MeSH38 D017086
NCIt44 C34375
SNOMED-CT61 191190000, 65959000
UMLS via Orphanet68 C0005283, C0472767
ICD10 via Orphanet30 D56.1
MESH via Orphanet39 D017086

Summaries for Thalassemia, Hispanic Gamma-Delta-Beta

About this section
OMIM:51 Beta-thalassemia is characterized by a reduced production of hemoglobin A (HbA, alpha-2/beta-2), which results from the... (613985) more...

MalaCards based summary: Thalassemia, Hispanic Gamma-Delta-Beta, also known as beta-thalassemia, is related to thalassemia minor and thalassemia-beta, dominant inclusion-body, and has symptoms including pallor, splenomegaly and hypersplenism. An important gene associated with Thalassemia, Hispanic Gamma-Delta-Beta is HBB (Hemoglobin Subunit Beta), and among its related pathways are HIF-1-alpha transcription factor network and HIF-1 signaling pathway. The drug sodium phenylbutyrate has been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and liver, and related mouse phenotype hematopoietic system.

Disease Ontology:11 A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.

Genetics Home Reference:25 Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body.

NIH Rare Diseases:47 Beta-thalassemia is a blood disorder that reduces the body's production of hemoglobin. Low levels of hemoglobin lead to a shortage of mature red blood cells and a lack of oxygen in the body. Affected people have anemia, which can cause paleness, weakness, fatigue, and more serious complications. Severe beta-thalassemia is called “thalassemia major” or “Cooley’s anemia.” Thalassemia intermedia is a less severe form. Beta-thalassemia is caused by mutations in the HBB gene and is usually inherited in an autosomal recessive manner. People who have only one HBB gene mutation may have no symptoms or develop mild symptoms, and are said to have thalassemia minor. Treatment depends on the severity in each person and may include transfusions, folic acid supplementation, iron chelation, and/or bone marrow transplantation (the only definitive cure). Last updated: 7/29/2015

CDC:2 Thalassemia is an inherited (i.e., passed from parents to children through genes) blood disorder caused when the body doesn’t make enough of a protein called hemoglobin, an important part of red blood cells. Thalassemia is a treatable disorder that can be well-managed with blood transfusions and chelation therapy. It is important for people with thalassemia to learn how to stay healthy.

UniProtKB/Swiss-Prot:69 Beta-thalassemia: A form of thalassemia. Thalassemias are common monogenic diseases occurring mostly in Mediterranean and Southeast Asian populations. The hallmark of beta-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. Absence of beta chain causes beta(0)-thalassemia, while reduced amounts of detectable beta globin causes beta(+)-thalassemia. In the severe forms of beta-thalassemia, the excess alpha globin chains accumulate in the developing erythroid precursors in the marrow. Their deposition leads to a vast increase in erythroid apoptosis that in turn causes ineffective erythropoiesis and severe microcytic hypochromic anemia. Clinically, beta-thalassemia is divided into thalassemia major which is transfusion dependent, thalassemia intermedia (of intermediate severity), and thalassemia minor that is asymptomatic.

GeneReviews for NBK1426

Related Diseases for Thalassemia, Hispanic Gamma-Delta-Beta

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Diseases related to Thalassemia, Hispanic Gamma-Delta-Beta via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1thalassemia minor31.5HBA2, HBB, HBG1, HBG2, HFE
2thalassemia-beta, dominant inclusion-body31.0BCL11A, EPO, HBA1, HBA2, HBB, HBG1
3porphyria cutanea tarda29.4HFE, TF, TFR2, TFRC
4sickle beta thalassemia12.6
5thrombocytopenia with beta-thalassemia, x-linked12.4
6hemoglobin s beta-thalassemia12.2
7hemoglobin e-beta-thalassemia syndrome12.1
8hemoglobin c-beta-thalassemia syndrome12.1
9hemoglobin lepore-beta-thalassemia syndrome12.1
10hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome12.1
11sickle delta beta thalassemia12.0
12gata1-related thrombocytopenia with beta-thalassemia12.0
13fetal hemoglobin quantitative trait locus 111.9
14thalassemia major11.6
15preeclampsia/eclampsia 410.6HBA2, HBB
16kcnq2-related disorders10.5HFE, TFR2
17diarrhea 1, secretory chloride, congenital10.5HFE, TFR2
18dermatoosteolysis, kirghizian type10.5HFE, TF
19hereditary multiple osteochondromas10.5HFE, TFR2
20mosaic genome-wide paternal uniparental disomy10.5HBB, HBD
21dic in newborn10.5EPO, HBA2, KLF1
22internuclear ophthalmoplegia10.5HBB, HBD
23dfnb 1 nonsyndromic hearing loss and deafness10.4GATA1, HBD
24spastic paraplegia 16, x-linked10.4HBA1, HBA2
25intracranial cavernous angioma10.4HBB, HBD
26vulvar proximal-type epithelioid sarcoma10.4HBB, HBD
27thbd-related atypical hemolytic-uremic syndrome10.4HBB, HBG2, HFE
28basilar artery insufficiency10.4EPO, HFE, TFRC
29postinflammatory pulmonary fibrosis10.4HBB, TF
30hydrocephalus due to congenital stenosis of aqueduct of sylvius10.4HBA1, HBA2
31postpartum depression10.4EPO, TF
32uterine inflammatory disease10.4HBB, HBD
33aarskog-scott syndrome10.4HBB, TFR2, TFRC
34phthisical cornea10.4HBA1, HBB
35larynx sarcoma10.3HBB, UGT1A1
36suppurative otitis media10.3EPO, HBA2
37malignant visceral pleura tumor10.3EPO, TF, TFRC
38ovarian cystic teratoma10.3EPO, TF, TFRC
39parkinson disease type 310.3HBA1, HBA2, HBB
40pneumonia caused by pseudomonas aeruginosa infection10.3HBB, HBG1, HBG2, KLF1
41heinz body anemia10.3HBA1, HBA2, HBB
42gaba-transaminase deficiency10.3HBA1, HBA2, HBB
43ovarian disease10.3HBA1, HBA2
44articulation disorder10.3EPO, RHD
45splenic infarction10.3EPO, HBB
46pyruvate kinase deficiency10.2EPO, HBA2, HBG2, HFE
47slate pneumoconiosis10.2HBB, HFE, TF, TFRC
48macrocytic anemia10.2HBB, HFE, TF, TFR2
49balint syndrome10.1HBA1, HBA2
50tooth erosion10.1HBA1, TF

Graphical network of the top 20 diseases related to Thalassemia, Hispanic Gamma-Delta-Beta:



Diseases related to thalassemia, hispanic gamma-delta-beta

Symptoms for Thalassemia, Hispanic Gamma-Delta-Beta

About this section


Clinical features from OMIM:

613985

Human phenotypes related to Thalassemia, Hispanic Gamma-Delta-Beta:

 63 53 (show all 73)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pallor63 53 hallmark (90%) Very frequent (99-80%) HP:0000980
2 splenomegaly63 53 hallmark (90%) Very frequent (99-80%) HP:0001744
3 hypersplenism63 53 hallmark (90%) Very frequent (99-80%) HP:0001971
4 abnormality of the heme biosynthetic pathway63 hallmark (90%) HP:0010472
5 abnormality of the genital system63 typical (50%) HP:0000078
6 abnormality of the teeth63 53 typical (50%) Frequent (79-30%) HP:0000164
7 upslanted palpebral fissure63 53 typical (50%) Frequent (79-30%) HP:0000582
8 behavioral abnormality63 typical (50%) HP:0000708
9 biliary tract abnormality63 typical (50%) HP:0001080
10 muscle weakness63 53 typical (50%) Frequent (79-30%) HP:0001324
11 malabsorption63 53 typical (50%) Frequent (79-30%) HP:0002024
12 respiratory insufficiency63 53 typical (50%) Frequent (79-30%) HP:0002093
13 hepatomegaly63 53 typical (50%) Frequent (79-30%) HP:0002240
14 genu valgum63 53 typical (50%) Frequent (79-30%) HP:0002857
15 paresthesia63 53 typical (50%) Frequent (79-30%) HP:0003401
16 reduced bone mineral density63 53 typical (50%) Frequent (79-30%) HP:0004349
17 abnormality of temperature regulation63 53 typical (50%) Frequent (79-30%) HP:0004370
18 depressed nasal bridge63 53 typical (50%) Frequent (79-30%) HP:0005280
19 feeding difficulties in infancy63 typical (50%) HP:0008872
20 malar prominence63 53 typical (50%) Frequent (79-30%) HP:0010620
21 abnormality of iron homeostasis63 53 typical (50%) Frequent (79-30%) HP:0011031
22 hearing impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0000365
23 visual impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0000505
24 cataract63 53 occasional (7.5%) Occasional (29-5%) HP:0000518
25 abnormality of color vision63 occasional (7.5%) HP:0000551
26 nyctalopia63 occasional (7.5%) HP:0000662
27 abnormality of the thorax63 53 occasional (7.5%) Occasional (29-5%) HP:0000765
28 diabetes mellitus63 53 occasional (7.5%) Occasional (29-5%) HP:0000819
29 hypothyroidism63 53 occasional (7.5%) Occasional (29-5%) HP:0000821
30 hypoparathyroidism63 53 occasional (7.5%) Occasional (29-5%) HP:0000829
31 anterior hypopituitarism63 occasional (7.5%) HP:0000830
32 cirrhosis63 53 occasional (7.5%) Occasional (29-5%) HP:0001394
33 hypertrophic cardiomyopathy63 53 occasional (7.5%) Occasional (29-5%) HP:0001639
34 sudden cardiac death63 occasional (7.5%) HP:0001645
35 thrombocytopenia63 53 occasional (7.5%) Occasional (29-5%) HP:0001873
36 pulmonary hypertension63 53 occasional (7.5%) Occasional (29-5%) HP:0002092
37 skeletal dysplasia63 53 occasional (7.5%) Occasional (29-5%) HP:0002652
38 arthralgia63 53 occasional (7.5%) Occasional (29-5%) HP:0002829
39 neoplasm of the liver63 53 occasional (7.5%) Occasional (29-5%) HP:0002896
40 elevated hepatic transaminases63 53 occasional (7.5%) Occasional (29-5%) HP:0002910
41 thrombophlebitis63 occasional (7.5%) HP:0004418
42 bone marrow hypocellularity63 occasional (7.5%) HP:0005528
43 primary adrenal insufficiency63 occasional (7.5%) HP:0008207
44 skin ulcer63 53 occasional (7.5%) Occasional (29-5%) HP:0200042
45 hypochromic microcytic anemia63 HP:0004840
46 reduced beta/alpha synthesis ratio63 HP:0011906
47 hypogonadotrophic hypogonadism53 Frequent (79-30%)
48 irritability53 Frequent (79-30%)
49 abnormality of the skeletal system53 Very frequent (99-80%)
50 abnormality of the skull53 Frequent (79-30%)
51 cholelithiasis53 Occasional (29-5%)
52 anemia53 Very frequent (99-80%)
53 microcytic anemia53 Very frequent (99-80%)
54 venous thrombosis53 Occasional (29-5%)
55 abnormal hemoglobin53 Very frequent (99-80%)
56 hepatitis53 Occasional (29-5%)
57 increased serum ferritin53 Frequent (79-30%)
58 night blindness53 Occasional (29-5%)
59 depression53 Frequent (79-30%)
60 anxiety53 Frequent (79-30%)
61 delayed puberty53 Frequent (79-30%)
62 adrenal insufficiency53 Occasional (29-5%)
63 abnormality of the hypothalamus-pituitary axis53 Occasional (29-5%)
64 osteoporosis53 Frequent (79-30%)
65 jaundice53 Frequent (79-30%)
66 cardiomyopathy53 Occasional (29-5%)
67 neutropenia53 Occasional (29-5%)
68 fever53 Frequent (79-30%)
69 dyspnea53 Frequent (79-30%)
70 cardiorespiratory arrest53 Occasional (29-5%)
71 monochromacy53 Occasional (29-5%)
72 arrhythmia53 Occasional (29-5%)
73 feeding difficulties53 Frequent (79-30%)

Drugs & Therapeutics for Thalassemia, Hispanic Gamma-Delta-Beta

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Drugs for Thalassemia, Hispanic Gamma-Delta-Beta (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50)    (show all 186)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
RibavirinapprovedPhase 498436791-04-537542
Synonyms:
1-.beta.-D-Ribofuranosyl-1,2,4-triazolo-3-carboxamide
1-[(2R,3R,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)oxolan-2-yl]-1,2,4-triazole-3-carboxamide
1-[(2R,3R,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)oxolan-2-yl]-1H-1,2,4-triazole-3-carboxamide
1-beta-D-Ribofuranosyl-1,2,4-triazole-3-carboxamide
1-beta-D-Ribofuranosyl-1H-1,2,4-triazole-3-carboxamide
1-beta-D-ribofuranosyl-1-H-1,2,4-triazole-3-carboxamide
36791-04-5
437710-49-1
66510-90-5
AA-504/07617051
AB00430481
AC1L1XXZ
AC1Q1IDC
AC1Q4ZGS
AKOS001715163
BB_NC-0567
BPBio1_001195
BRN 0892462
BSPBio_001085
BSPBio_003352
C-Virin
CHEMBL1643
CID37542
Copegus
Copegus (TN)
Cotronak
D00423
DB00811
DRG-0028
DivK1c_000782
Drug: Ribavirin
EU-0101063
FT-0082885
HMS2090L15
HMS2094O09
HMS502H04
HSDB 6513
ICN-1229
IDI1_000782
KBio1_000782
KBio2_002328
KBio2_004896
KBio2_007464
KBio3_002854
KBioGR_001804
KBioSS_002331
KS-1104
LS-1241
Lopac0_001063
MLS000028486
MLS002222317
MolPort-002-507-104
MolPort-002-885-856
NCGC00090726-01
NCGC00090726-03
NCGC00090726-04
NCGC00090726-05
NCGC00090726-06
NCGC00090726-07
NINDS_000782
NSC 163039
 
NSC163039
Prestwick3_000993
R 9644
R-964
R9644_SIGMA
RBV
RG-964
RIBAV
RTC
RTCA
RTP
Ravanex
Rebetol
Rebetol (TN)
Rebetron
Rebretron
Ribacine
Ribamide
Ribamidil
Ribamidyl
Ribasphere
Ribasphere (TN)
Ribav
Ribavirin
Ribavirin (JAN/USP/INN)
Ribavirin Capsules
Ribavirin Triphosphate
Ribavirin [USAN:INN]
Ribavirin-TP
Ribavirina
Ribavirina [INN-Spanish]
Ribavirine
Ribavirine [INN-French]
Ribavirinum
Ribavirinum [INN-Latin]
Ribovirin
Ro 20-9963/000
Ro-20-9963
S2504_Selleck
SCH 18908
SMP1_000261
SMR000058315
SPECTRUM1503938
SR-01000076112-3
Spectrum3_001876
Spectrum4_001252
Spectrum5_002075
Spectrum_001826
Tribavirin
UNII-49717AWG6K
Varazid
Vilona
Viramid
Viramide
Virazid
Virazide
Virazole
Virazole (Ribavirin) Inhalation Solution
Virazole (TN)
Virazole 5'-triphosphate
ZINC01035331
ribavirin
2
Peginterferon alfa-2aapproved, investigationalPhase 4563198153-51-45360545
Synonyms:
198153-51-4
D02747
Pegasys
 
Pegasys (TN)
Peginterferon alfa-2a
Peginterferon alfa-2a (USAN/INN)
Peginterferon alfa-2a (genetical recombination)
Peginterferon alfa-2a (genetical recombination) (JAN)
3
Deferasiroxapproved, investigationalPhase 4, Phase 2, Phase 3, Phase 189201530-41-85493381
Synonyms:
Deferasiroxum
Deferasiroxum [inn-latin]
 
Exjade
ICL 670
ICL 670a
deferasirox
4
Peginterferon alfa-2bapprovedPhase 430899210-65-8, 215647-85-1
Synonyms:
215647-85-1
D02748
PEG-Intron
PegIntron
 
Peginterferon alfa-2b
Peginterferon alfa-2b (INN)
Peginterferon alfa-2b (generical recombination)
Peginterferon alfa-2b (generical recombination) (JAN)
Pegintron (TN)
Unitron PEG
5
IronapprovedPhase 4, Phase 2, Phase 3, Phase 111237439-89-623925
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
6
DeferiproneapprovedPhase 4, Phase 2, Phase 3, Phase 15730652-11-02972
Synonyms:
1,2-Dimethyl-3-hydroxypyrid-4-one
3-Hydroxy-1,2-dimethyl-4(1H)-pyridone
APO-066
CP-20
DN-180-01-AF
Deferipron
 
Deferiprona
Deferiproni
Deferipronum
Deferypron
Dimethylhydroxypyridone
Défériprone
Ferriprox
PL-1
7
Deferoxamineapproved, investigationalPhase 4, Phase 2, Phase 3, Phase 14570-51-92973
Synonyms:
DF B
DFO
DFOA
DFOM
Deferoxamide B
Deferoxamin
Deferoxamina
 
Deferoxamine B
Deferoxaminum
Deferrioxamine
Deferrioxamine B
Deferrioxamine b
Desferrioxamine
Desferrioxamine B
Déferoxamine
N-Benzoylferrioxamine B
8
Cyclosporineapproved, investigational, vet_approvedPhase 4, Phase 2, Phase 191579217-60-0, 59865-13-35284373, 6435893
Synonyms:
1c5f
1cyn
30024_FLUKA
30024_SIGMA
59865-13-3
79217-60-0
AC1L1EQW
AC1NQXJE
AC1NR4C4
AC1NUQK3
AC1NUZNC
AC1O5KOG
AC1Q2UDG
Ambap59865-13-3
Ambotz59865-13-3
Antibiotic S 7481F1
BMT-ABA-SAR-MLE-VAL-MLE-ALA-ALA-MLE-MLE-MVA
BMT-ABA-SAR-MLE-VAL-MLE-ALA-DAL-MLE-MLE-MVA
BPBio1_000496
BRD-A64290322-001-01-6
BRD-A69815203-001-04-3
BRD-K13533483-001-03-0
BSPBio_000450
BSPBio_001596
BSPBio_003186
C 3662
C05086
C1832_SIGMA
C3662_SIGMA
C62H111N11O12
CB-01-09 MMX
CHEBI:106343
CHEBI:328305
CHEBI:4031
CHEMBL160
CHEMBL386389
CHEMBL532318
CID2909
CID5280754
CID5284373
CID5458585
CID5497195
CID6435893
CSA
CYCLOSPORIN A (SEE ALSO TRANSGENIC MODEL EVALUATION (CYCLOSPORIN A))
CYCLOSPORIN A, USP
Ciclosporin
Ciclosporin (JP15)
Ciclosporina
Ciclosporine
Ciclosporinum
Cipol N
Cipol-N
Consupren
Consupren S
CsA
CsA & IFN.alpha.
CyA
Cyclokat
Cyclosporin
Cyclosporin A
Cyclosporin A & IFN.alpha.
Cyclosporin A Implant
Cyclosporin A, Tolypocladium inflatum
Cyclosporine (USP)
Cyclosporine A
Cyclosporine [USAN]
D00184
DE-076
DivK1c_000871
EU-0100242
Equoral
GNF-Pf-2808
Gengraf
Gengraf (TN)
HMS1569G12
HMS1791P18
HMS1921L20
HMS1989P18
HMS2089A09
HMS2092F06
HMS502L13
Helv Chim Acta 60: 1568 (1977)
 
I06-0379
I06-0966
IDI1_000871
KBio1_000871
KBio2_000780
KBio2_003348
KBio2_005916
KBio3_002686
KBioGR_001898
KBioSS_000780
LMPK14000003
LS-257
LS-58836
Lopac0_000242
MLS000028376
MLS001333756
MLS002153454
MLS002207033
Mitogard
Modusik-A
MolPort-000-760-988
MolPort-005-934-008
MolPort-006-705-994
NCGC00093704-01
NCGC00093704-02
NCGC00093704-03
NCGC00093704-04
NCGC00093704-05
NCGC00093704-06
NCGC00093704-07
NCGC00093704-08
NCGC00164258-01
NCGC00164258-02
NINDS_000871
NSC290193
Neoplanta
Neoral
Neoral (TN)
NeuroSTAT
Nova-22007
OL 27-400
OL-27400
OLO-400
Papilock
Prestwick2_000435
Prestwick3_000435
Prestwick_731
Pulminiq
Ramihyphin A
Restasis
Restasis (TN)
S-Neoral
S1514_Selleck
SDZ-OXL 400
SMR000058578
SPBio_001467
SPECTRUM1502202
ST-603
Sandimmun
Sandimmun Neoral
Sandimmune
Sandimmune (TN)
Sandimmune, Gengraf, Restasis, Atopica, Sangcya, Cyclosporine
Sang-2000
Sang-35
SangCyA
Sangcya
Sigmasporin
Sigmasporin Microoral
Spectrum2_001484
Spectrum3_001593
Spectrum4_001279
Spectrum5_001628
Spectrum_000300
TRANSGENIC MODEL EVALUATION (CYCLOSPORIN A)
Vekacia
Zyclorin
cyclophorine
cyclosporin A
cyclosporine
from Tolypocladium inflatum (Trichoderma polysporin)
nchembio.184-comp6
nchembio.301-comp5
nchembio.342-comp1
9
Mycophenolate mofetilapproved, investigationalPhase 4, Phase 2, Phase 1939128794-94-55281078
Synonyms:
115007-34-6
128794-94-5
140401-05-4
2-Morpholinoethyl (4E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (e)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-morpholin-4-ylethyl (4E)-6-[4-hydroxy-7-methyl-6-(methyloxy)-3-oxo-1,3-dihydro-2-benzofuran-5-yl]-4-methylhex-4-enoate
2-morpholin-4-ylethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)-4-methylhex-4-enoate
4-Hexenoic acid, 6-(1,3-dihydro-4-hydroxy-6-methoxy-7-methyl -3-oxo-5-isobenzofuranyl)-4-methyl-, 2-(4-morpholinyl)ethyl ester, (4E)
AC-1562
AC1NQXZW
AC1Q6O6X
AR-1J6939
BB_NC-2566
C07908
C23H31NO7
CHEMBL1456
CID5281078
CellCept
CellCept, RS 61443, TM-MMF, Mycophenolate mofetil
Cellcept
Cellcept (TN)
D00752
DB00688
HMS2090A03
 
HSDB 7436
I01-0898
I06-1947
LS-172272
LS-75572
ME-MPA
MMF
MMF CellCept(TM)
MolPort-000-883-800
Munoloc
Mycophenolate mofetil (JAN/USAN)
Mycophenolic acid morpholinoethyl ester
Mycophenylate mofetil
NCGC00159459-02
NCGC00159459-03
NSC724229
R-99
RS 61443
RS-61443
RS-61443-190
S1501_Selleck
TL8000648
TM-MMF
UNII-9242ECW6R0
ZINC21297660
mycophenolate mofetil
10
Mycophenolic acidapprovedPhase 4, Phase 2, Phase 193924280-93-1446541
Synonyms:
(e)-6-(4-Hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoic acid
Acide mycophenolique
Acido micofenolico
Acidum mycophenolicum
 
Melbex
Micofenolico acido
Mycophenoic acid
Mycophenolate
Mycophenolsäure
Myfortic
11
Miconazoleapproved, investigational, vet_approvedPhase 4, Phase 2, Phase 1362422916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
12
MethotrexateapprovedPhase 415181959-05-2, 59-05-2126941
Synonyms:
4-amino-10-methylfolic acid
4-amino-N(10)-Methylpteroylglutamic acid
Abitrexate
Amethopterin
Amethopterine
Antifolan
Arbitrexate
Emtexate
Folex
HDMTX
L-Amethopterin
Ledertrexate
MTX
Metatrexan
 
Methopterin
Methotextrate
Methotrate
Methotrexat
Methotrexate Sodium
Methotrexatum
Methylaminopterin
Methylaminopterinum
Metotrexato
Mexate
Méthotrexate
N-Bismethylpteroylglutamic Acid
N-[4-[[(2,4-Diamino-6-pteridinyl)methyl]methylamino]benzoyl]-L-glutamic acid
Rheumatrex
Trexall
13
Basiliximabapproved, investigationalPhase 4137152923-56-3, 179045-86-4
Synonyms:
 
Ig gamma-1 chain C region
chimeric mouse-human antiCD25
14
Hyaluronic acidapproved, vet_approvedPhase 44399004-61-953477741, 24759
Synonyms:
Hyaluronan
Hyaluronate
Hyaluronic acid
Hylartil
Hyruan Plus
Luronit
 
Macronan
Mucoitin
Nutra-HAF
Q 5AQ
Sepracoat
Sepragel Sinus
Sofast
Synvisc
15
MetforminapprovedPhase 41746657-24-914219, 4091
Synonyms:
1,1-Dimethyl biguanide
1,1-Dimethylbiguanide
3-(diaminomethylidene)-1,1-dimethylguanidine
657-24-9
AC1L1HE4
AKOS000121065
Apo-Metformin
BIDD:GT0697
BPBio1_000009
BRD-K79602928-003-04-1
BSPBio_000007
BSPBio_002314
C07151
C4H11N5
CAS-1115-70-4
CCRIS 9321
CHEBI:6801
CHEMBL1431
CID4091
D04966
DB00331
DMGG
Diabetosan
Diabex
Dimethylbiguanid
Dimethylbiguanide
Dimethylbiguanidine
Dimethyldiguanide
Dimethylguanylguanidine
EINECS 211-517-8
Fluamine
Flumamine
Fortamet
Gen-Metformin
Glifage
Gliguanid
Glucophage
Glucophage XR
Glumetza
Glycon
HMS2089D19
HSCI1_000295
Haurymelin
Haurymellin
Islotin
KBio2_002310
KBio2_004878
KBio2_007446
KBio3_002790
KBioGR_002310
 
KBioSS_002312
LA-6023
LS-43899
Melbin
Metformin
Metformin (USAN/INN)
Metformin HCL
Metformin [USAN:INN:BAN]
Metformina
Metformina [DCIT]
Metformina [Spanish]
Metformine
Metformine [INN-French]
Metformine pamoate
Metforminum
Metforminum [INN-Latin]
Metiguanide
MolPort-002-929-560
MolPort-004-288-389
MolPort-005-767-418
Mylan-Metformin
N,N-Dimethylbiguanide
N,N-Dimethyldiguanide
N,N-Dimethylimidodicarbonimidic diamide
N,N-dimethylimidodicarbonimidic diamide
N1,N1-Dimethylbiguanide
NCGC00016564-01
NCGC00016564-02
NCGC00016564-03
NNDG
Novo-Metformin
Nu-Metformin
PMS-Metformin
Prestwick0_000004
Prestwick1_000004
Prestwick2_000004
Prestwick3_000004
Ran-Metformin
Ratio-Metformin
Riomet
S2483_Selleck
SPBio_001928
STK011633
Sandoz Metformin
Siofor
T5895664
Teva-Metformin
UNII-9100L32L2N
ZINC12859773
cMAP_000016
metformin
metformin hydrochloride
16
Ergocalciferolapproved, nutraceuticalPhase 4123250-14-65280793
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
17
Cholecalciferolapproved, nutraceuticalPhase 485167-97-06221, 10883523, 5280795
Synonyms:
()-Vitamin D3
(+)-Vitamin D3
(+)-vitamin D3
(1S,3Z)-3-[(2e)-2-[(1R,3AR,7as)-7a-methyl-1-[(2R)-6-methylheptan-2-yl]-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]-4-methylidene-cyclohexan-1-ol
(3S,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol
(3beta,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol
(3beta,5Z,7e)-9,10-Secocholesta-5,7,10(19)-trien-3-ol
(3beta,Z,7E)-9,10-Secocholesta-5,7,10(19)-trien-3-ol
(5E,7E)-9,10-Secocholesta-5,7,10-trien-3-ol
(5Z,7E)-(3S)-9,10-seco-5,7,10(19)-cholestatrien-3-ol
(5Z,7E)-(3S)-9,10-secocholesta-5,7,10(19)-trien-3-ol
(5Z,7e)-(3S)-9,10-Secocholesta-5,7,10(19)-trien-3-ol
1406-16-2
25(OH)D
3-beta,Z,7E-9,10-Secocholestr-5,7,10(19)-trien-3-ol
47763_SUPELCO
57651-82-8
67-97-0
7-Dehydrocholesterol activated
7-Dehydrocholesterol, Activated
7-Dehydrocholesterol, irradiated
7-Dehydrocholestrol, activated
8024-19-9
8050-67-7
89193_FLUKA
9,10-Seco(5Z,7E)-5,7,10(19)-cholestatrien-3-ol
9,10-Seco(5Z,7E)-5,7,10(19)-cholestatrien-3beta-ol
9,10-Secocholesta-5(Z),7(E),10(19)-trien-3(.beta.)-ol
9,10-Secocholesta-5,7,10(19)-trien-3-beta-ol
9,10-Secocholesta-5,7,10(19)-trien-3-ol
9,10-Secocholesta-5,7,10-trien-3-ol
AB1002422
AC-11697
AC1L1ECK
AC1L1M23
AC1LU7IZ
AC1NQXLN
AC1NR2UO
AC1NR2UR
AC1NR2UU
AC1NS4AJ
AC1NSHJX
AC1O5EOF
AC1O7GAV
AC1O7GQ3
AC1O8FEU
AC1O8PWJ
AC1OF2GI
AC1OF2GL
AC1OIEW5
AC1OIEWB
ACon1_001997
Activated 7-dehydrocholesterol
Arachitol
BPBio1_000460
BSPBio_000418
BSPBio_002408
Bio-0845
C05443
C1357_SIAL
C27H44O
C9756_SIGMA
C9774_SIAL
CAS-67-97-0
CC
CCRIS 5813
CCRIS 6286
CHEBI:283119
CHEBI:28940
CHEMBL1042
CHEMBL432780
CID10000117
CID10045875
CID10340013
CID10883523
CID10894379
CID11014566
CID11025493
CID11058152
CID11463269
CID1548921
CID2735
CID5280795
CID5283710
CID5283711
CID5283712
CID5353527
CID5363362
CID6221
CID6432644
CID6604201
CID6604662
CID6708595
CID6713938
CID6992015
CID6992016
CID7067439
CID7067440
CID7251172
CID7251174
CID9821465
Calciol
Cholecalciferol
Cholecalciferol (D3)
Cholecalciferol (JP15/USP)
Cholecalciferol D3
Cholecalciferol [USAN:BAN:JAN]
Cholecalciferol, D3
Cholecalciferolum
 
Colecalciferol
Colecalciferol (INN)
Colecalciferolo
Colecalciferolo [DCIT]
Colecalciferolum
Colecalciferolum [INN-Latin]
Colecalcipherol
D00188
D3-Vicotrat
D3-Vigantol
DB00169
Delsterol
Delta-D
Delta-D (TN)
Deparal
Devaron
DivK1c_006276
Duphafral D3 1000
EINECS 200-673-2
EINECS 215-797-2
EPA Pesticide Chemical Code 202901
Ebivit
FeraCol
Granuvit D3
HMS1569E20
HMS2092M12
HSDB 820
I05-0041
Irradiated 7-dehydrocholesterol
KBio1_001220
KBio2_001643
KBio2_004211
KBio2_006779
KBio3_001628
KBioGR_001602
KBioSS_001643
LMST03020001
LMST03020219
LMST03020220
LMST03020221
LS-1570
LS-825
LT00244775
MEGxm0_000458
Micro-dee
MolPort-001-740-051
MolPort-001-785-972
MolPort-003-666-021
MolPort-004-946-964
NCGC00016301-01
NCGC00017328-01
NCGC00091072-01
NCGC00142511-01
NCGC00159331-02
NCGC00159331-04
NCGC00178668-01
NCGC00179565-01
NCGC00179565-02
NEO Dohyfral D3
NSC 375571
NSC-375571
NSC375571
Oleovitamin D3
Prestwick0_000429
Prestwick1_000429
Prestwick2_000429
Prestwick3_000429
Prestwick_63
Provitamine
Provitina
Quintox
Rampage
Ricketon
SMP1_000068
SPBio_001298
SPBio_002357
SR-05000001559
SR-05000001559-3
ST057172
SpecPlus_000180
Spectrum2_001369
Spectrum3_000764
Spectrum4_001201
Spectrum_001163
TNP00266
Trivitan
UNII-1C6V77QF41
UPCMLD-DP152
UPCMLD-DP152:001
VITAMIN D
VITAMIN D3 POWDER
VITAMIN_D3
Vi-De3
Vi-de-3-hydrosol
VidDe-3-hydrosol
Videkhol
Vigantol
Vigorsan
Vitamin D3
Vitamin D3 emulsifiable
Vitinc Dan-Dee-3
ZINC04474460
ZINC04492874
ZINC04492875
ZINC04492876
ZINC04492878
bmse000507
calciol
cholecalciferol
delta-D
vitamin d-3
18
Folic Acidapproved, nutraceutical, vet_approvedPhase 4427959-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
19Bone Density Conservation AgentsPhase 4, Phase 2, Phase 33266
20VaccinesPhase 46428
21Heptavalent Pneumococcal Conjugate VaccinePhase 4454
22Nucleic Acid Synthesis InhibitorsPhase 4, Phase 2, Phase 3, Phase 14855
23Antimetabolites, AntineoplasticPhase 4, Phase 2, Phase 17171
24Immunosuppressive AgentsPhase 4, Phase 2, Phase 112770
25Chelating AgentsPhase 4, Phase 2, Phase 3, Phase 1, Early Phase 11365
26Calcium, DietaryPhase 4, Phase 2, Phase 35525
27VitaminsPhase 4, Phase 2, Phase 35095
28Protective AgentsPhase 4, Phase 2, Phase 3, Phase 17190
29Liver ExtractsPhase 4, Phase 2, Phase 3, Phase 13868
30Interferon-alphaPhase 41139
31Antiviral AgentsPhase 4, Phase 2, Phase 19732
32AntimetabolitesPhase 4, Phase 2, Phase 111774
33Anti-Infective AgentsPhase 4, Phase 2, Phase 121402
34interferonsPhase 42137
35Trace ElementsPhase 4, Phase 2, Phase 3, Phase 15802
36Iron Chelating AgentsPhase 4, Phase 2, Phase 3, Phase 1222
37ErgocalciferolsPhase 41232
38MicronutrientsPhase 4, Phase 2, Phase 3, Phase 15802
39vitamin dPhase 41653
40Adjuvants, ImmunologicPhase 42484
41Calcineurin InhibitorsPhase 4, Phase 2, Phase 11597
42Antibiotics, AntitubercularPhase 4, Phase 2, Phase 16972
43Antifungal AgentsPhase 4, Phase 2, Phase 13615
44Antirheumatic AgentsPhase 4, Phase 2, Phase 110627
45Dermatologic AgentsPhase 4, Phase 2, Phase 15674
46Anti-Bacterial AgentsPhase 4, Phase 2, Phase 110884
47Vitamin B ComplexPhase 44229
48Folic Acid AntagonistsPhase 42200
49AntibodiesPhase 46045
50Antibodies, MonoclonalPhase 43795

Interventional clinical trials:

(show top 50)    (show all 169)
idNameStatusNCT IDPhase
1Combined Chelation Treatment With Deferiprone and Deferoxamine in Thalassemia MajorUnknown statusNCT00103753Phase 4
2B Memory Cell Response to Vaccination With the 13-valent Pneumococcal Conjugate Vaccine in Asplenic IndividualsUnknown statusNCT01846923Phase 4
3The Effect of Vitamin D Supplementation on Calcium Excretion in Thalassemia: a Dose Response StudyUnknown statusNCT01323608Phase 4
4Interferon and Ribavirin Treatment in Patients With HemoglobinopathiesUnknown statusNCT00887081Phase 4
5Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron OverloadCompletedNCT00564941Phase 4
6Post Hematopoietic Stem Cell TransplantationCompletedNCT01610297Phase 4
7Efficacy Study of the Use of Sequential DFP-DFO Versus DFPCompletedNCT00733811Phase 4
8Extension Study of the Efficacy and Safety of Deferasirox Treatment in Beta-thalassemia Patients With Transfusional Hemosiderosis (Study Amended to 2-year Duration)CompletedNCT00171301Phase 4
9Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia MajorCompletedNCT00800761Phase 4
10Efficacy Study in Removing Excess Iron From the HeartCompletedNCT00105495Phase 4
11Pilot Study for Patients With Poor Response to DeferasiroxCompletedNCT00749515Phase 4
12Efficacy of Basiliximab in the Prevention of Acute Graft-versus-host Disease in Unrelated Allogeneic Hematopoietic Stem Cell Transplantation Therapy for Thalassemia MajorRecruitingNCT02342145Phase 4
13Effects of Spirulina on Cardiac Functions in Children With Beta Thalassemia MajorActive, not recruitingNCT02597595Phase 4
14the Potential Immunomodulatory Effects of Spirulina on Thalassemic ChildrenActive, not recruitingNCT02674607Phase 4
15Effect of Spirulina on Liver Iron Concentration in Beta Thalassemic Children With Hepatitis CActive, not recruitingNCT02744560Phase 4
16Effect of Spirulina on Serum Hyaluronic Acid in Beta Thalassemic Children With Hepatitis CActive, not recruitingNCT02744547Phase 4
17Effect of Spirulina on Liver Fibrosis by Transient Elastography in Beta Thalassemic Children With Hepatitis CActive, not recruitingNCT02744105Phase 4
18The Potential Hepatoprotective Effect of Metformin in Patients With Beta Thalassemia MajorNot yet recruitingNCT02984475Phase 4
19An Open Label Study to Evaluate the Pharmacokinetics, Safety, Tolerability and Efficacy of Deferasirox Administered to Chinese Patients With β-thalassemia Major Aged From 2 to Less Than 6 Years OldWithdrawnNCT01724138Phase 4
20An Algorithm to Start Iron Chelation in Minimally Transfused Young Beta-thalassemia Major PatientsUnknown statusNCT02173951Phase 2, Phase 3
21Zoledronic Acid for the Prevention of Bone Loss Post-bone Marrow Transplantation for Thalassemia Major PatientsUnknown statusNCT01016093Phase 2, Phase 3
22Therapeutic Effects of Silymarin in Patients With B-thalassemia MajorUnknown statusNCT00999349Phase 2, Phase 3
23Therapeutic Effect and Safety of Combined Hydroxyurea With Recombinant Human Erythropoietin.Unknown statusNCT01624038Phase 2, Phase 3
24Role of Vitamin C to Augment Iron Chelation With DFP or DFXUnknown statusNCT02083575Phase 2, Phase 3
25Study Of Efficacy,Safety of Combined Deferasirox and Deferiprone Versus Combined Deferiprone and Desferal In Conditions of Iron OverloadUnknown statusNCT01511848Phase 2, Phase 3
26Effect of Iron Depletion by Phlebotomy Plus Lifestyle Changes vs. Lifestyle Changes Alone on Liver Damage in Patients With Nonalcoholic Fatty Liver Disease With Increased Iron StoresUnknown statusNCT00658164Phase 3
27An Extension Study of Iron Chelation Therapy With Deferasirox (ICL670) in β-thalassemia Patients With Transfusional Iron OverloadCompletedNCT00171210Phase 3
28A Study of Long-term Treatment With Deferasirox in Patients With Beta-thalassemia and Transfusional HemosiderosisCompletedNCT00171171Phase 3
29Safety & Efficacy of ICL670 vs. Deferoxamine in Beta-thalassemia Patients With Iron Overload Due to Blood TransfusionsCompletedNCT00061750Phase 3
30Amlodipine Use in the Prevention and Treatment of Iron Overload in Patients With Thalassemia MajorCompletedNCT01125254Phase 2, Phase 3
31Amlodipine in the Prevention and Treatment of Iron Overload in Patients With Thalassemia MajorCompletedNCT01395199Phase 3
32Effect of Metoprolol on Thalassemia CardiomyopathyCompletedNCT01863173Phase 2, Phase 3
33Efficacy and Safety of the Iron Chelator Deferiprone in Parkinson's DiseaseCompletedNCT00943748Phase 2, Phase 3
34Safety and Efficacy of Deferasirox in Patients With Transfusion Dependent Iron Overload - a Non-comparative Extension StudyCompletedNCT01033747Phase 2, Phase 3
35A Study Evaluating the Efficacy and Safety of the LentiGlobin® BB305 Drug Product in Subjects With Transfusion-Dependent β-ThalassemiaRecruitingNCT02906202Phase 3
36An Efficacy and Safety Study of Luspatercept (ACE-536) Versus Placebo in Adults Who Require Regular Red Blood Cell Transfusions Due to Beta (β) ThalassemiaRecruitingNCT02604433Phase 3
37Efficacy/Safety Study of Deferiprone Compared to Deferasirox in Paediatric PatientsRecruitingNCT01825512Phase 3
38Study to Evaluate Efficacy and Safety of S303 Treated Red Blood Cells (RBCs)in Subjects With Thalassemia Major Requiring Chronic RBC TransfusionActive, not recruitingNCT01740531Phase 3
39Long-term Follow-up of Subjects With Hemoglobinopathies Treated With Ex Vivo Gene TherapyEnrolling by invitationNCT02633943Phase 2, Phase 3
40Iron Balance Study of Deferasirox, Deferoxamine and the Combination of BothUnknown statusNCT00738413Phase 1, Phase 2
41Reduced Intensity Transplant Conditioning Regimen for Severe ThalassemiaUnknown statusNCT01005576Phase 2
42Trial of HQK-1001 in Beta Thalassemia Intermedia in LebanonCompletedNCT01642758Phase 2
43Cardiac T2* in Beta-thalassemia Patients on Deferasirox TreatmentCompletedNCT00447694Phase 2
44Iron Balance Study of DFO and GT56-252 in Patients With Transfusional Iron Overload Secondary to Beta-ThalassemiaCompletedNCT00069862Phase 1, Phase 2
45Study of SDMB (2,2 Dimethylbutyrate, Sodium Salt) in Beta Thalassemia Intermedia in ThailandCompletedNCT01609595Phase 2
46Phase 1/2 Study of HQK-1001 in Patients With Beta ThalassemiaCompletedNCT00790127Phase 1, Phase 2
47Combination Therapy of Hydroxyurea With L-Carnitine and Magnesium Chloride in Thalassemia IntermediaCompletedNCT00809042Phase 2
48Hydroxyurea to Treat Beta-Thalassemia (Cooley's Anemia)CompletedNCT00001958Phase 2
49Study to Evaluate the Effects of ACE-536 in Patients With Beta-thalassemiaCompletedNCT01749540Phase 2
50A 4-year Extension Study to Core 1-year Study of Iron Chelation Therapy With Deferasirox in β-thalassemia Major Pediatric Patients With Transfusional Iron Overload.CompletedNCT00390858Phase 2

Search NIH Clinical Center for Thalassemia, Hispanic Gamma-Delta-Beta

Inferred drug relations via UMLS67/NDF-RT45:


Cochrane evidence based reviews: beta-thalassemia

Genetic Tests for Thalassemia, Hispanic Gamma-Delta-Beta

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Genetic tests related to Thalassemia, Hispanic Gamma-Delta-Beta:

id Genetic test Affiliating Genes
1 Beta Thalassemia26
2 Beta Thalassemia Major26
3 Beta Thalassemia Intermedia26
4 Beta Thalassemia Minor26
5 Beta-Thalassemia24 HBB

Anatomical Context for Thalassemia, Hispanic Gamma-Delta-Beta

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MalaCards organs/tissues related to Thalassemia, Hispanic Gamma-Delta-Beta:

35
Bone, Bone marrow, Liver, Heart, Hypothalamus, Pituitary, Testes

Animal Models for Thalassemia, Hispanic Gamma-Delta-Beta or affiliated genes

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MGI Mouse Phenotypes related to Thalassemia, Hispanic Gamma-Delta-Beta:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053976.6BCL11A, EPO, GATA1, HFE, KLF1, RHD

Publications for Thalassemia, Hispanic Gamma-Delta-Beta

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Variations for Thalassemia, Hispanic Gamma-Delta-Beta

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UniProtKB/Swiss-Prot genetic disease variations for Thalassemia, Hispanic Gamma-Delta-Beta:

69
id Symbol AA change Variation ID SNP ID
1HBBp.Glu27LysVAR_002907rs33950507
2HBBp.Ala116AspVAR_003037rs35485099
3HBBp.Val127GlyVAR_003056rs33925391
4HBBp.Leu115ProVAR_010145rs36015961

Clinvar genetic disease variations for Thalassemia, Hispanic Gamma-Delta-Beta:

5 (show all 49)
id Gene Variation Type Significance SNP ID Assembly Location
1HBBNM_000518.4(HBB): c.92G> C (p.Arg31Thr)SNVPathogenicrs33960103GRCh37Chr 11, 5248160: 5248160
2HBBNM_000518.4(HBB): c.82G> T (p.Ala28Ser)SNVLikely pathogenic, Pathogenicrs35424040GRCh37Chr 11, 5248170: 5248170
3HBBNM_000518.4(HBB): c.59A> G (p.Asn20Ser)SNVPathogenicrs33972047GRCh37Chr 11, 5248193: 5248193
4HBBNM_000518.4(HBB): c.328G> A (p.Val110Met)SNVLikely pathogenicrs33969677GRCh37Chr 11, 5246944: 5246944
5HBBNM_000518.4(HBB): c.79G> A (p.Glu27Lys)SNV, HaplotypePathogenic, protectivers33950507GRCh37Chr 11, 5248173: 5248173
6HBBNM_000518.4(HBB): c.118C> T (p.Gln40Ter)SNVPathogenicrs11549407GRCh37Chr 11, 5248004: 5248004
7HBBNM_000518.4(HBB): c.114G> A (p.Trp38Ter)SNVLikely pathogenic, Pathogenicrs33974936GRCh37Chr 11, 5248008: 5248008
8HBBNM_000518.4(HBB): c.25_26delAA (p.Lys9Valfs)deletionPathogenicrs35497102GRCh37Chr 11, 5248226: 5248227
9HBBNM_000518.4(HBB): c.51delC (p.Lys18Argfs)deletionPathogenicrs35662066GRCh37Chr 11, 5248201: 5248201
10HBBNM_000518.4(HBB): c.135delC (p.Phe46Leufs)deletionPathogenicrs80356820GRCh37Chr 11, 5247987: 5247987
11HBBNM_000518.4(HBB): c.230delC (p.Ala77Valfs)deletionLikely pathogenic, Pathogenicrs281864901GRCh37Chr 11, 5247892: 5247892
12HBBNM_000518.4(HBB): c.85dupC (p.Leu29Profs)duplicationLikely pathogenic, Pathogenicrs35532010GRCh37Chr 11, 5248168: 5248168
13HBBNM_000518.4(HBB): c.92+1G> TSNVLikely pathogenic, Pathogenicrs33971440GRCh37Chr 11, 5248159: 5248159
14HBBNM_000518.4(HBB): c.93-22_95del25deletionPathogenicrs193922563GRCh37Chr 11, 5248027: 5248051
15HBBNM_000518.4(HBB): c.92+5G> CSNVPathogenicrs33915217GRCh37Chr 11, 5248155: 5248155
16HBBNM_000518.4(HBB): c.92+5G> ASNVLikely pathogenic, Pathogenicrs33915217GRCh37Chr 11, 5248155: 5248155
17HBBNM_000518.4(HBB): c.92+6T> CSNVPathogenicrs35724775GRCh37Chr 11, 5248154: 5248154
18HBBNM_000518.4(HBB): c.316-3C> ASNVPathogenicrs33913413GRCh37Chr 11, 5246959: 5246959
19HBBNM_000518.4(HBB): c.93-21G> ASNVPathogenicrs35004220GRCh37Chr 11, 5248050: 5248050
20HBBNM_000518.4(HBB): c.316-106C> GSNVPathogenicrs34690599GRCh37Chr 11, 5247062: 5247062
21HBBNM_000518.4(HBB): c.316-197C> TSNVPathogenicrs34451549GRCh37Chr 11, 5247153: 5247153
22HBBNM_000518.4(HBB): c.75T> A (p.Gly25=)SNVPathogenicrs33951465GRCh37Chr 11, 5248177: 5248177
23HBBNM_000518.4(HBB): c.-50-88C> TSNVPathogenicrs33944208GRCh37Chr 11, 5248389: 5248389
24HBBNM_000518.4(HBB): c.-50-101C> TSNVPathogenicrs63751208GRCh37Chr 11, 5248402: 5248402
25HBBNM_000518.4(HBB): c.-137C> GSNVPathogenicrs33941377GRCh37Chr 11, 5248388: 5248388
26HBBNM_000518.4(HBB): c.-136C> GSNVPathogenicrs33994806GRCh37Chr 11, 5248387: 5248387
27HBBNM_000518.4(HBB): c.-80T> ASNVPathogenicrs33980857GRCh37Chr 11, 5248331: 5248331
28HBBNM_000518.4(HBB): c.-50-29A> GSNVPathogenicrs34598529GRCh37Chr 11, 5248330: 5248330
29HBBNM_000518.4(HBB): c.-78A> GSNVPathogenicrs33931746GRCh37Chr 11, 5248329: 5248329
30HBBNM_000518.4(HBB): c.143dupA (p.Asp48Glufs)duplicationPathogenicrs35894115GRCh37Chr 11, 5247979: 5247979
31HBBNM_000518.4(HBB): c.344T> C (p.Leu115Pro)SNVPathogenicrs36015961GRCh37Chr 11, 5246928: 5246928
32HBBNM_000518.4(HBB): c.-140C> TSNVLikely pathogenic, Pathogenicrs34999973GRCh37Chr 11, 5248391: 5248391
33HBBNM_000518.4(HBB): c.116_117delCC (p.Gln40Glufs)deletionPathogenicrs267607298GRCh37Chr 11, 5248005: 5248006
34HBBNM_000518.4(HBB): c.364G> C (p.Glu122Gln)SNV, HaplotypePathogenicrs33946267GRCh37Chr 11, 5246908: 5246908
35HBBNM_000518.4(HBB): c.364G> A (p.Glu122Lys)SNV, HaplotypePathogenicrs33946267GRCh37Chr 11, 5246908: 5246908
36HBBNM_000518.4(HBB): c.315+1G> CSNVLikely pathogenicrs33945777GRCh37Chr 11, 5247806: 5247806
37HBBNM_000518.4(HBB): c.-136C> TSNVLikely pathogenicrs33994806GRCh37Chr 11, 5248387: 5248387
38HBBNM_000518.4(HBB): c.-137C> TSNVPathogenicrs33941377GRCh37Chr 11, 5248388: 5248388
39HBBNM_000518.4(HBB): c.-50A> CSNVLikely pathogenicrs34305195GRCh38Chr 11, 5227071: 5227071
40HBBNM_000518.4(HBB): c.19_20delGAinsAT (p.Glu7Met)indelLikely pathogenicrs193922552GRCh37Chr 11, 5248232: 5248233
41HBBNM_000518.4(HBB): c.251delG (p.Gly84Alafs)deletionLikely pathogenic, Pathogenicrs193922555GRCh37Chr 11, 5247871: 5247871
42HBBNM_000518.4(HBB): c.27dupG (p.Ser10Valfs*14)duplicationPathogenicrs35699606GRCh37Chr 11, 5248225: 5248225
43HBBNM_000518.4(HBB): c.287dupA (p.Leu97Alafs)duplicationLikely pathogenicrs34937014GRCh37Chr 11, 5247835: 5247835
44HBBNM_000518.4(HBB): c.2T> C (p.Met1Thr)SNVLikely pathogenic, Pathogenicrs33941849GRCh37Chr 11, 5248250: 5248250
45HBBNM_000518.4(HBB): c.316-14T> GSNVPathogenicrs35703285GRCh37Chr 11, 5246970: 5246970
46HBBNM_000518.4(HBB): c.*110T> CSNVPathogenicrs33978907GRCh37Chr 11, 5246718: 5246718
47HBBNM_000518.4(HBB): c.92+2T> CSNVPathogenicrs33956879GRCh37Chr 11, 5248158: 5248158
48HBBNM_000518.4(HBB): c.92G> A (p.Arg31Lys)SNVLikely pathogenicrs33960103GRCh37Chr 11, 5248160: 5248160
49HBBNM_000518.4(HBB): c.93-3T> GSNVLikely pathogenicrs34527846GRCh37Chr 11, 5248032: 5248032

Expression for genes affiliated with Thalassemia, Hispanic Gamma-Delta-Beta

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Search GEO for disease gene expression data for Thalassemia, Hispanic Gamma-Delta-Beta.

Pathways for genes affiliated with Thalassemia, Hispanic Gamma-Delta-Beta

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GO Terms for genes affiliated with Thalassemia, Hispanic Gamma-Delta-Beta

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Cellular components related to Thalassemia, Hispanic Gamma-Delta-Beta according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1haptoglobin-hemoglobin complexGO:003183810.2HBA1, HBA2, HBB
2endocytic vesicle lumenGO:00716829.9HBA1, HBA2, HBB
3HFE-transferrin receptor complexGO:19907129.7HFE, TF, TFR2, TFRC
4basal part of cellGO:00451789.6HFE, TF
5recycling endosomeGO:00550379.5HFE, TF, TFRC
6hemoglobin complexGO:00058337.9AHSP, HBA1, HBA2, HBB, HBD, HBE1
7blood microparticleGO:00725627.8HBA1, HBA2, HBB, HBD, HBE1, HBG2

Biological processes related to Thalassemia, Hispanic Gamma-Delta-Beta according to GeneCards Suite gene sharing:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of peptide hormone secretionGO:009027710.5HFE, TFR2
2ferrous iron import into cellGO:009746010.4TF, TFR2
3positive regulation of receptor-mediated endocytosisGO:004826010.4HFE, TF
4iron ion homeostasisGO:005507210.1HFE, TF, TFR2
5cellular response to iron ionGO:007128110.1HFE, TF, TFR2
6hydrogen peroxide catabolic processGO:004274410.1HBA1, HBA2, HBB
7response to hydrogen peroxideGO:004254210.0HBA1, HBA2, HBB
8bicarbonate transportGO:00157019.9HBA1, HBA2, HBB
9cellular oxidant detoxificationGO:00988699.9HBA1, HBA2, HBB
10response to nutrientGO:00075849.9EPO, TFRC, UGT1A1
11transferrin transportGO:00335729.8TF, TFR2, TFRC
12erythrocyte differentiationGO:00302189.7AHSP, EPO, GATA1, KLF1
13response to iron ionGO:00100399.7HFE, TFR2, TFRC
14cellular iron ion homeostasisGO:00068799.6HFE, TF, TFR2, TFRC
15protein heterooligomerizationGO:00512919.5HBA1, HBA2, HBB, HBE1
16acute-phase responseGO:00069539.4EPO, HFE, TFR2, TFRC, UGT1A1
17positive regulation of cell deathGO:00109429.3HBA1, HBA2, HBB
18receptor-mediated endocytosisGO:00068989.0HBA1, HBA2, HBB, TFR2, TFRC
19blood coagulationGO:00075968.6GATA1, HBB, HBD, HBE1, HBG1, HBG2
20oxygen transportGO:00156718.5HBA1, HBA2, HBB, HBD, HBE1, HBG1

Molecular functions related to Thalassemia, Hispanic Gamma-Delta-Beta according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1hemoglobin bindingGO:003049210.6AHSP, HBB
2transferrin receptor activityGO:000499810.5TFR2, TFRC
3transferrin receptor bindingGO:199045910.4HFE, TF
4haptoglobin bindingGO:003172010.2HBA1, HBA2, HBB
5peroxidase activityGO:000460110.1HBA1, HBA2, HBB
6co-receptor bindingGO:003970610.0HFE, TFR2
7oxygen transporter activityGO:00053448.7HBA1, HBA2, HBB, HBD, HBE1, HBG1
8oxygen bindingGO:00198258.2HBA1, HBA2, HBB, HBD, HBE1, HBG1
9heme bindingGO:00200378.2HBA1, HBA2, HBB, HBD, HBE1, HBG1
10iron ion bindingGO:00055067.9HBA1, HBA2, HBB, HBD, HBE1, HBG1

Sources for Thalassemia, Hispanic Gamma-Delta-Beta

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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