IMD46
MCID: IMM135
MIFTS: 14

Immunodeficiency 46 (IMD46) malady

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 46

Aliases & Descriptions for Immunodeficiency 46:

Name: Immunodeficiency 46 54 66
Imd46 66

Classifications:



External Ids:

MedGen 40 CN234781
MeSH 42 D007153

Summaries for Immunodeficiency 46

UniProtKB/Swiss-Prot : 66 Immunodeficiency 46: An autosomal recessive primary immunodeficiency disorder characterized by early-onset chronic diarrhea, recurrent infections, hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, and intermittent thrombocytopenia.

MalaCards based summary : Immunodeficiency 46, is also known as imd46. An important gene associated with Immunodeficiency 46 is TFRC (Transferrin Receptor). The drugs Efavirenz and Zidovudine have been mentioned in the context of this disorder.

Related Diseases for Immunodeficiency 46

Symptoms & Phenotypes for Immunodeficiency 46

Clinical features from OMIM:

616740

Drugs & Therapeutics for Immunodeficiency 46

Drugs for Immunodeficiency 46 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 99)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Efavirenz Approved, Investigational Phase 4,Phase 3 154598-52-4 64139
2
Zidovudine Approved Phase 4,Phase 2 30516-87-1 35370
3
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2 134678-17-4 60825
4
Stavudine Approved, Investigational Phase 4,Phase 2 3056-17-5 18283
5 Cytochrome P-450 CYP2C9 Inhibitors Phase 4,Phase 3
6 Cytochrome P-450 CYP3A Inducers Phase 4,Phase 3
7 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
8 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2
9 Anti-HIV Agents Phase 4,Phase 2,Phase 3,Phase 1
10 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
11 Anti-Retroviral Agents Phase 4,Phase 2,Phase 3,Phase 1
12 Reverse Transcriptase Inhibitors Phase 4,Phase 3,Phase 2
13 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
14
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
15
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
16
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
17
Ritonavir Approved, Investigational Phase 2, Phase 3, Phase 1 155213-67-5 392622
18
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
19
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
20
Lopinavir Approved Phase 3 192725-17-0 92727
21
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
22
Allopurinol Approved Phase 3 315-30-0 2094
23
Bleomycin Approved Phase 3 11056-06-7 5360373
24
Tipranavir Approved, Investigational Phase 2, Phase 3 174484-41-4 65027
25
Levoleucovorin Approved Phase 3 68538-85-2
26 Dolutegravir Approved Phase 3,Phase 2 1051375-16-6 54726191
27
Rifampin Approved Phase 3 13292-46-1 5458213 5381226
28
Isoniazid Approved Phase 3 54-85-3 3767
29
Pyrazinamide Approved Phase 3 98-96-4 1046
30
Ethambutol Approved Phase 3 74-55-5 3279 14052
31
leucovorin Approved, Nutraceutical Phase 3 58-05-9 54575, 6560146 143
32
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
33
Doxil Approved June 1999 Phase 3 31703
34 Dexamethasone acetate Phase 3 1177-87-3
35 Alkylating Agents Phase 3,Phase 1,Phase 2
36 glucocorticoids Phase 3,Phase 1
37
protease inhibitors Phase 2, Phase 3, Phase 1
38 Folic Acid Antagonists Phase 3
39 Gastrointestinal Agents Phase 3
40 HIV Protease Inhibitors Phase 2, Phase 3, Phase 1
41 Cytochrome P-450 CYP3A Inhibitors Phase 2, Phase 3, Phase 1
42 Topoisomerase Inhibitors Phase 3
43 Dermatologic Agents Phase 3
44 Hormone Antagonists Phase 3,Phase 1
45 Dexamethasone 21-phosphate Phase 3
46 Hormones Phase 3,Phase 1
47 Peripheral Nervous System Agents Phase 3
48 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1
49 Vitamin B Complex Phase 3
50 Pharmaceutical Solutions Phase 3

Interventional clinical trials:

(show all 27)
id Name Status NCT ID Phase
1 Cryptococcal Optimal ART Timing Trial Completed NCT01075152 Phase 4
2 A Phase III Randomized Trial of Low-Dose Versus Standard-Dose mBACOD Chemotherapy With rGM-CSF for Treatment of AIDS-Associated Non-Hodgkin's Lymphoma Completed NCT00000658 Phase 3
3 Rollover Trial Safety and Tolerability of Combination Tipranavir and Ritonavir Use in HIV 1 Infected Subjects Completed NCT00146328 Phase 2, Phase 3
4 Randomized Evaluation of Strategic Intervention in Multidrug Resistant Patients With Tipranavir (RESIST) Completed NCT00054717 Phase 3
5 Comparison of Efficacy and Safety of Infant Peri-exposure Prophylaxis With Lopinavir/Ritonavir Versus Lamivudine to Prevent HIV-1 Transmission by Breastfeeding Completed NCT00640263 Phase 3
6 Open-label Study of Dolutegravir (DTG) or Efavirenz (EFV) for Human Immunodeficiency Virus (HIV) - Tuberculosis (TB) Co-infection Active, not recruiting NCT02178592 Phase 3
7 The Yellow Fever Vaccine Immunity in HIV Infected Patients : Development of New Assays for Virological and Immunological Monitoring in HIV Infected Patient. Active, not recruiting NCT01426243 Phase 3
8 Kinetics of HIV-RNA Decay in Seminal Plasma of Men Treated by Dolutegravir at the Time of Primary HIV Infection Not yet recruiting NCT02976259 Phase 3
9 TMC125-TiDP2-C238: An Exploratory Pharmacokinetics, Safety and Anti-HIV Activity Study of Etravirine (ETR) When Given With Boosted Atazanavir (ATV/Rtv) at Two Different Doses and 1 Nucleoside Reverse Transcriptase Inhibitor (NRTI) in Treatment Experienced Completed NCT00896051 Phase 2
10 Tipranavir Dose-response Study Using a Prototype Self-emulsifying Drug Delivery System (SEDDS) Formulation in Treatment-naive HIV-1 Infected Patients Report on the Post-study Option, a Treatment of Triple Therapy With Delavirdine, ZDV and 3TC Without Tipr Completed NCT02249130 Phase 2
11 Safety and Effectiveness of a New Protease Inhibitor, BMS-232632, in HIV-Positive Patients Who Have Received Previous Treatment Completed NCT00004584 Phase 2
12 Observational Study of HIV-associated Neurocognitive Disorder Recruiting NCT01966094 Phase 2
13 Nivolumab in Treating Patients With HTLV-Associated T-Cell Leukemia/Lymphoma Recruiting NCT02631746 Phase 2
14 Early Simplified: A Trial to Compare the Efficacy of Standard of Care Combination Antiretroviral Therapy With a Simplified Dolutegravir Monotherapy in Patients With a Primary HIV-1 Infection Recruiting NCT02551523 Phase 2
15 Safety Study of a Dual Anti-HIV Gene Transfer Construct to Treat HIV-1 Infection Active, not recruiting NCT01734850 Phase 1, Phase 2
16 Drug Interaction Study Between Inhaled Beclomethasone and Protease Inhibitors in Healthy Volunteers Completed NCT00936793 Phase 1
17 Nivolumab and Ipilimumab in Treating Patients With HIV Associated Solid Tumors That Are Metastatic or Cannot Be Removed by Surgery Recruiting NCT02408861 Phase 1
18 HIV-Resistant Gene Modified Stem Cells and Chemotherapy in Treating Patients With Lymphoma With HIV Infection Recruiting NCT02343666 Phase 1
19 Gene-Modified HIV-Protected Stem Cell Transplant in Treating Patients With HIV-Associated Lymphoma Suspended NCT02378922 Phase 1
20 Immune Response and Cytomegalovirus in Intensive Care Unit (ICU) Patients Completed NCT00699868
21 Observational Study of Nevirapine Extended Release in Human Immunodeficiency Virus (HIV) Patients in Daily Clinical Practice Completed NCT01524900
22 Studies of the Ocular Complications of AIDS (SOCA) CMV Retinitis Trial: Foscarnet-Ganciclovir Component Completed NCT00000665
23 Residual Replication of HIV-1 in the Gut Associated Lymphoid Tissue (GALT) of Patients on Highly Active Antiretroviral Therapy (HAART): the ANRS EP 44 Study Completed NCT01038401
24 Non-interventional Observational Study With Viramune (Nevirapine) and Various Drug Combinations in the Antiretroviral Combination Treatment of HIV-infected Patients Who Have Already Been Treated for Approx. 10 Years With Viramune Completed NCT00979420
25 Non-Interventional Observational Study With Viramune Plus Antiretroviral in HIV Infected Patients Completed NCT00876733
26 Evaluation of the Effectiveness of an Aldehyde Inhibitor Dehydrogenases (DIMATE) on the Cell Population Leukemic or Normal Stem Recruiting NCT02748850
27 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Immunodeficiency 46

Genetic Tests for Immunodeficiency 46

Anatomical Context for Immunodeficiency 46

Publications for Immunodeficiency 46

Variations for Immunodeficiency 46

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 46:

66
id Symbol AA change Variation ID SNP ID
1 TFRC p.Tyr20His VAR_076365 rs863225436

ClinVar genetic disease variations for Immunodeficiency 46:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TFRC NM_003234.3(TFRC): c.58T> C (p.Tyr20His) single nucleotide variant Pathogenic rs863225436 GRCh37 Chromosome 3, 195802210: 195802210

Expression for Immunodeficiency 46

Search GEO for disease gene expression data for Immunodeficiency 46.

Pathways for Immunodeficiency 46

GO Terms for Immunodeficiency 46

Sources for Immunodeficiency 46

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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