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PFBMFT2
MCID: PLM175
MIFTS: 51

Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 (PFBMFT2)

Categories: Bone diseases, Cancer diseases, Genetic diseases, Immune diseases, Respiratory diseases
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Aliases & Classifications for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

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MalaCards integrated aliases for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2:

Name: Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 57 28 5 71
Aplastic Anemia 57 71
Fibrosis, Pulmonary, and/or Bone Marrow Failure, Telomere-Related, Type 2 38
Pulmonary Fibrosis, Idiopathic, Susceptibility to 57
Pulmonary Fibrosis, Idiopathic 57
Pfbmft2 57

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
adult onset
incomplete penetrance
variable manifestations


Classifications:

MalaCards categories:
Global: Genetic diseases Cancer diseases
Anatomical: Respiratory diseases Bone diseases Immune diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM® 57 614743
OMIM Phenotypic Series 57 PS614742
MedGen 40 C3553622
UMLS 71 C0002874 C3553622
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Summaries for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

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MalaCards based summary: Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2, also known as aplastic anemia, is related to aplastic anemia and dyskeratosis congenita, and has symptoms including angina pectoris, chest pain and edema. An important gene associated with Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 is TERC (Telomerase RNA Component). The drugs Miconazole and Clotrimazole have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and myeloid, and related phenotypes are cirrhosis and premature graying of hair

More information from OMIM: 614743 PS614742
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Related Diseases for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

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Diseases in the Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 family:

Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 6

Diseases related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 795)
# Related Disease Score Top Affiliating Genes
1 aplastic anemia 32.6 TERC LOC110806306
2 dyskeratosis congenita 31.1 TERC LOC110806306
3 dyskeratosis congenita, autosomal dominant 1 29.2 TERC LOC110806306
4 deficiency anemia 11.7
5 interstitial lung disease 2 11.7
6 dyskeratosis congenita, autosomal dominant 6 11.6
7 bone marrow failure syndrome 1 11.5
8 diamond-blackfan anemia 11.4
9 amed syndrome, digenic 11.4
10 wt limb-blood syndrome 11.3
11 paroxysmal nocturnal hemoglobinuria 11.3
12 fanconi anemia, complementation group a 11.3
13 dyskeratosis congenita, autosomal dominant 2 11.2
14 congenital aplastic anemia 11.2
15 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 11.2
16 dyskeratosis congenita, autosomal recessive 5 11.2
17 hoyeraal hreidarsson syndrome 11.2
18 lymphoproliferative syndrome, x-linked, 1 11.2
19 dyskeratosis congenita, autosomal dominant 3 11.2
20 pure red-cell aplasia 11.2
21 graft-versus-host disease 11.2
22 retinopathy aplastic anemia neurological abnormalities 11.1
23 rare acquired aplastic anemia 11.1
24 rare constitutional aplastic anemia 11.1
25 pancytopenia 11.1
26 eosinophilic fasciitis 11.1
27 shwachman-diamond syndrome 1 11.1
28 myelodysplastic syndrome 11.1
29 revesz syndrome 11.1
30 sideroblastic anemia 11.1
31 immunodeficiency 21 11.1
32 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 11.1
33 chronic graft versus host disease 11.1
34 dyskeratosis congenita, autosomal recessive 1 11.0
35 dyskeratosis congenita, autosomal recessive 2 11.0
36 dyskeratosis congenita, autosomal recessive 3 11.0
37 lymphoproliferative syndrome 2 11.0
38 dyskeratosis congenita, autosomal recessive 6 11.0
39 pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 11.0
40 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 11.0
41 pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 11.0
42 myelophthisic anemia 11.0
43 primary acquired pure red cell aplasia 11.0
44 acute graft versus host disease 11.0
45 hemoglobinuria 11.0
46 acute leukemia 10.9
47 leukemia, acute myeloid 10.8
48 acute myeloid leukemia with recurrent genetic anomaly 10.8
49 granulocytopenia 10.8
50 autoimmune disease 10.7

Comorbidity relations with Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 via Phenotypic Disease Network (PDN): (show all 16)


Acquired Thrombocytopenia Active Peptic Ulcer Disease
Acute Cystitis Acute Kidney Failure
Aortic Valve Disease 1 Chronic Kidney Disease
Decubitus Ulcer Deficiency Anemia
Familial Atrial Fibrillation Heart Disease
Hypothyroidism Iron Deficiency Anemia
Neutropenia Osteoporosis
Protein-Energy Malnutrition Sideroblastic Anemia

Graphical network of the top 20 diseases related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2:



Diseases related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2
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Symptoms & Phenotypes for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

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Human phenotypes related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2:

30 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cirrhosis 30 Occasional (7.5%) HP:0001394
2 premature graying of hair 30 HP:0002216
3 leukemia 30 HP:0001909
4 bone marrow hypocellularity 30 HP:0005528
5 pulmonary fibrosis 30 HP:0002206
6 myeloid leukemia 30 HP:0012324
7 aplastic anemia 30 HP:0001915

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Hematology:
pancytopenia
aplastic anemia
bone marrow failure

Skin Nails Hair Hair:
premature graying of the hair

Laboratory Abnormalities:
decreased telomere length in lymphocytes

Respiratory Lung:
pulmonary fibrosis

Neoplasia:
increased risk for cancer
increased risk for myelodysplastic syndrome
increased risk for hematologic cancer, particularly acute myeloid leukemia

Abdomen Liver:
cirrhosis (in some)

Clinical features from OMIM®:

614743 (Updated 08-Dec-2022)

UMLS symptoms related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2:


angina pectoris; chest pain; edema
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Drugs & Therapeutics for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

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Drugs for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 155)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
2
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
3
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
4
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
5
Tannic acid Approved Phase 4 1401-55-4 16129878 16129778
6
Iron Approved Phase 4 7439-89-6 29936
7
Deferasirox Approved, Investigational Phase 4 201530-41-8 214348 5493381
8
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 4 67-97-0, 1406-16-2 5280795 10883523
9
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 5283731
10
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
11 Antifungal Agents Phase 4
12 Hormones Phase 4
13 Hormone Antagonists Phase 4
14 Antiprotozoal Agents Phase 4
15 Antiparasitic Agents Phase 4
16 Cytochrome P-450 Enzyme Inhibitors Phase 4
17 Vitamins Phase 4
18
Vitamin D2 Phase 4 3249
19 Trace Elements Phase 4
20 Calciferol Phase 4
21 Ergocalciferols Phase 4
22 Calcium, Dietary Phase 4
23 Hydroxycholecalciferols Phase 4
24 Micronutrients Phase 4
25 Cyclosporins Phase 4
26 Immunosuppressive Agents Phase 4
27 Iron Chelating Agents Phase 4
28 Chelating Agents Phase 4
29
Calcium Nutraceutical Phase 4 7440-70-2 271
30
Nandrolone phenpropionate Approved, Illicit, Investigational Phase 3 62-90-8 229455
31
Nandrolone decanoate Approved, Illicit Phase 3 360-70-3 9677
32
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 38904
33
Thiotepa Approved, Investigational Phase 2, Phase 3 52-24-4 5453
34
Heparin, bovine Approved, Investigational, Withdrawn Phase 3 9005-49-6 22833565 9812414 772
35
Nandrolone Experimental, Investigational Phase 3 434-22-0 9904
36 Immunoglobulin G Phase 3
37 Anabolic Agents Phase 3
38 Androgens Phase 3
39 Antilymphocyte Serum Phase 3
40 Fibrinolytic Agents Phase 3
41 Anticoagulants Phase 3
42 Calcium heparin Phase 3
43
Levamisole Approved, Investigational, Vet_approved, Withdrawn Phase 2 14769-73-4 26879
44
Lenograstim Approved, Investigational Phase 2 135968-09-1
45
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
46
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
47
Sargramostim Approved, Investigational Phase 2 123774-72-1
48
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
49
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
50
Rituximab Approved Phase 2 174722-31-7

Interventional clinical trials:

(show top 50) (show all 229)
# Name Status NCT ID Phase Drugs
1 Different Doses of Anti-thymocyte Globin With 2.5 or 3.75mg/kg to Treat Child Severe Aplastic Anemia Unknown status NCT01997372 Phase 4 ATG
2 Moderate-dose Cyclophosphamide for Childhood Acquired Aplastic Anemia Unknown status NCT01995331 Phase 4 cyclophosphamide,cyclosporine A
3 Multi-center Clinical Study of Immunosuppressants, Cyclophosphamide, And Cord Blood Transfusion in Treating Patients With Severe Aplastic Anemia Unknown status NCT02838992 Phase 4 Rabbit ATG, (Genzyme);Cy;CsA
4 Child With Severe Aplastic Anemia (SAA) Therapy: the Injection of Umbilical Cord Derived Mesenchymal Stem Cells. Unknown status NCT02218437 Phase 4 MSC+ATG
5 Randomized Clinical Trial of the Use of & Cyclosporine in Children With Sever Idiopathic Aplastic Anemia Completed NCT03243656 Phase 4 Eltrombopag
6 A Single Arm, Multicenter, Open Label Study of Desferasirox in Chinese Patients With Iron Overload and Aplastic Anemia Completed NCT01546415 Phase 4 Desferasirox
7 Treatment With Thrombopoietin Mimetic Plus Immunosuppressive Therapy in Egyptian Patients With Aplastic Anaemia Completed NCT03896971 Phase 4 Combination of thrombopoietin mimetic and cyclosporin A
8 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 (Stoss Therapy) in Pediatric Patients Undergoing HSCT to Prevent Vitamin D Deficiency and Insufficiency During Transplant Completed NCT03176849 Phase 4
9 Incidence of Invasive Fungal Disease in Patients Receiving Immunosuppressive Therapy, Intensive Chemotherapy or Reduced Intensity Haematopoietic Stem Cell Transplantation on Posaconazole Prophylaxis Completed NCT02875743 Phase 4 Posaconazole
10 The Efficacy of Immunosuppressive Therapy Combined With Cord Blood Transfusion in Treatment of Severe Aplastic Anemia Recruiting NCT02745717 Phase 4 Thymoglobulin;Cyclosporine Oral Product
11 Open-label Study of Exjade in the Treatment of Transfusion-dependent Iron Overload in Aplastic Anemia Patients Undergoing Treatment Programs in Comparison With Control Group Terminated NCT01818726 Phase 4 ICL670;Chelation;No chelation
12 A Prospective Randomized Multicenter Study Comparing Different Dosages of Rabbit Antithymocyte Globulin (Thymoglobuline) in Patients With Severe Aplastic Anemia Unknown status NCT01844635 Phase 3 Thymoglobulin
13 Outcome of Peripheral Blood Allogenic Stem Cell Transplantation Using Non-anti Thymocyte Globulin (ATG ) Conditioning Regimens in Severe Aplastic Anemia Patients Unknown status NCT03295058 Phase 2, Phase 3 Non ATG Conditioning regimen;GVHD Prophylaxis;ATG conditioning regimen
14 Randomized Comparison of Cyclophosphamide Versus Fludarabine in Addition to Anti-thymocyte Globulin for the Conditioning Therapy in Allogeneic Hematopoietic Cell Transplantation for Adult Acquired Aplastic Anemia Unknown status NCT01145976 Phase 3 Cy-ATG;Flu-ATG
15 A Phase 2/3 Study of AMG531 Combined With Ciclosporin A in Patients With Aplastic Anemia Previously Untreated With Immunosuppressive Therapy Completed NCT04095936 Phase 2, Phase 3 Romiplostim
16 Hematopoietic Stem Cell Transplant For Patients With Dyskeratosis Congenita and Severe Aplastic Anemia Completed NCT00455312 Phase 2, Phase 3 Campath 1H;Cyclophosphamide;Fludarabine;antithymocyte globulin;Methylprednisolone
17 A MULTICENTER, OPEN-LABEL, SINGLE-ARM STUDY TO ASSESS THE EFFICACY AND SAFETY OF PF-06462700 ADMINISTERED INTRAVENOUSLY AT 40 MG/KG/DAY FOR 4 DAYS IN JAPANESE PARTICIPANTS WITH MODERATE AND ABOVE APLASTIC ANEMIA Completed NCT04350606 Phase 3
18 Phase 2/3 Study of Romiplostim(AMG531) in Subjects With Aplastic Anemia Refractory to or Ineligible for Immunosuppressive Therapy Completed NCT02773290 Phase 2, Phase 3
19 A Prospective Randomized Multicenter Study Comparing Horse Antithymocyte Globuline (hATG) + Cyclosporine A (CsA) With or Without Eltrombopag as Front-line Therapy for Severe Aplastic Anemia Patients. Completed NCT02099747 Phase 3 hATG;CsA;Eltrombopag
20 Multi-Center Trial of Anti-Thymocyte Globulin in Treatment of Aplastic Anemia and Other Hematologic Disorders Completed NCT00000597 Phase 3 antilymphocyte serum;nandrolone
21 Allogeneic Blood or Marrow Transplantation for Hematologic Malignancy and Aplastic Anemia Completed NCT00003816 Phase 2, Phase 3 busulfan;carboplatin;cyclophosphamide;etoposide;fludarabine phosphate;melphalan;thiotepa
22 Phase III Randomized Study of Cyclophosphamide With or Without Antithymocyte Globulin Before Bone Marrow Transplantation in Patients With Aplastic Anemia Completed NCT00004474 Phase 3 Anti-thymocyte globulin;Cyclophosphamide
23 A Phase 2/3 Study of AMG531 in Patients With Aplastic Anemia PreviouslyUntreated With Immunosuppressive Therapy Completed NCT03957694 Phase 2, Phase 3 Romiplostim
24 A Phase III Multicenter Randomized Study of Hetrombopag or Placebo in Treatment-Naive Severe Aplastic Anemia Recruiting NCT03825744 Phase 3 Hetrombopag Olamine+Standard Therapy;Placebo+Standard Therapy
25 Efficacy and Safety of Thrombopoetin-Receptor Agonist Eltrombopag in in Combination With Ciclosporin A in Moderate Aplastic Anemia (EMAA): Prospective Randomized Multicenter Study Recruiting NCT02773225 Phase 2, Phase 3 Eltrombopag;Placebo (for Eltrombopag)
26 A Phase II Multicenter Randomized Study of Eltrombopag Combined With Cyclosporine and hATG Versus hATG and CsA as First Line Treatment in Pediatric Patients With Severe Acquired Aplastic Anemia Recruiting NCT03413306 Phase 3 Eltrombopag;IST (ATG + CsA)
27 Extension Study of Hetrombopag Olamine in Patients With Treatment-naive Severe Aplastic Anemia Recruiting NCT04961710 Phase 3 Hetrombopag Olamine;Placebo
28 A Phase III Randomized Trial Comparing Unrelated Donor Bone Marrow Transplantation With Immune Suppressive Therapy for Newly Diagnosed Pediatric and Young Adult Patients With Severe Aplastic Anemia (TransIT, BMT CTN 2202) Not yet recruiting NCT05600426 Phase 3 cyclosporine;horse anti-thymocyte globulin (ATG);rabbit anti-thymocyte globulin (ATG);Methotrexate;Fludarabine;Cyclophosphamide
29 Efficacy and Safety of Avatrombopag in Non-severe Aplastic Anemia - a Multicenter Prospective Single Arm Study Not yet recruiting NCT04728789 Phase 2, Phase 3 Avatrombopag 20 MG
30 Efficacy and Safety of Hetrombopag in Non-severe Aplastic Anemia: a Prospective Single Arm Study Not yet recruiting NCT05018936 Phase 2, Phase 3 Hetrombopag
31 A RANDOMIZED CONTROLLED STUDY IN NEWLY DIAGNOSED SEVERE APLASTIC ANEMIA PATIENTS RECEIVING ANTITHYMOCYTE GLOBULIN (ATG), CYCLOSPORIN A, WITH OR WITHOUT G-CSF Terminated NCT01163942 Phase 3 G-CSF;Early retreatment with ATG
32 A Randomized Controlled Crossover Trial of Two Different Central Venous Catheter Flushing Schemes in Pediatric Hematology and Oncology Patients in Alberta, Canada Terminated NCT01343680 Phase 3 Heparin;Normal saline
33 Fludarabine, Cyclophosphamide Plus Thymoglobulin Conditioning Regimen for Unrelated Bone Marrow (or Mobilized Peripheral Blood) Transplantation in Severe Aplastic Anemia Unknown status NCT00737685 Phase 2 cyclophosphamide, fludarabine , thymoglobulin
34 PhaseⅡTrial of Co-transplantation With Bone Marrow Derived Mesenchymal Stem Cells From Related Donors in Alternative Donor Transplantation of Severe Aplastic Anemia. Unknown status NCT02247973 Phase 2
35 Open Label, Phase II Study Investigating the Efficacy of Posaconazole as Prophylaxis Antifungal Agent in Aplastic Anemia / Hypoplastic Myelodysplastic Syndrome Patients Undergoing Antithymocyte Globulin Treatment Unknown status NCT03318159 Phase 2 Posaconazole
36 Phase I/II Study of An Ex Vivo Immunotherapy for Treatment of Idiopathic Aplastic Anemia Unknown status NCT00399971 Phase 1, Phase 2 Ex vivo immunotherapy
37 Phase I/II Study of Fludarabine, Cyclophosphamide Plus TBI Conditioning Regimen for Double Units Cord Blood Transplantation in Severe Aplastic Anemia Unknown status NCT00881933 Phase 1, Phase 2
38 Reduced Toxicity Fludarabine, Cyclophosphamide Plus Thymoglobulin Conditioning Regimen for Unrelated Donor Transplantation in Severe Aplastic Anemia Unknown status NCT00882323 Phase 2 Cyclophosphamide, Fludarabine, Thymoglobulin
39 A Phase I/II Trial of Sirolimus (Rapamune) and Cyclosporine in Patients With Refractory Aplastic Anemia Unknown status NCT00319878 Phase 1, Phase 2 Sirolimus;Cyclosporine
40 Alemtuzumab and Low-Dose Cyclosporine-A as Alternative Immunosuppressive Treatment for Severe Aplastic Anemia (SAA) and Single-Lineage Aplastic Patients Unknown status NCT00895739 Phase 2 cyclosporine
41 A Multicenter, Randomized, Controlled Study of the Efficacy and Safety of the Combination of Adipose Tissue-derived Hematopoietic Stem Cells (AD-HSCs) and ATG in the Treatment of Severe Aplastic Anemia Unknown status NCT02407470 Phase 1, Phase 2 Rabbit antithymoglobulin (ATG)
42 A Novel TBI Free Conditioning Protocol for Haploidentical Hematopoeitic Stem Cell Transplant in Acquired Aplastic Anemia Unknown status NCT03955601 Phase 2 Haploidentical HSCT using TBI free regimen, ''ATG'' with ''Post transplant cyclophosphamide''
43 Efficacy and Safety of Thrombopoietin In Patients With Severe and Very Severe Aplastic Anemia Unknown status NCT02857530 Phase 2 rhTPO;placebo
44 PhaseⅠ/ⅡTrial of Bone Marrow Derived Mesenchymal Stem Cell Transplantation From Related Donor to Patients With Relapsed/Refractory Aplastic Anemia. Unknown status NCT01305694 Phase 1, Phase 2
45 Haploidentical Stem Cell Transplantation With Fixed Dose of T Cells After in Vitro T Cell Depletion Using CD3 Monoclonal Antibody for Children With Acquired Severe Aplastic Anemia Unknown status NCT01759732 Phase 2 Fludarabine;Cyclophosphamide
46 A Single-Arm Phase 2 Study With Optimized Standard Protocol for Severe Aplastic Anemia Unknown status NCT02203396 Phase 2 rabbit ATG, Cyclosporine, Levamisole
47 Male Hormones for Telomere Related Diseases Unknown status NCT02055456 Phase 1, Phase 2 Nandrolone Decanoate
48 Haploidentical Stem Cell Transplantation With CD3/CD19 Depleted Stem Cells in Pediatric Patients With Refractory Hematological and Oncological Diseases Unknown status NCT01919866 Phase 1, Phase 2
49 Russian Single-center Open Randomized Clinical Trial of the Impact of Mesenchymal Stromal Cells Therapy on Organ Dysfunction and 28-day Mortality in Patients With Septic Shock and Severe Neutropenia. Unknown status NCT01849237 Phase 1, Phase 2 Standard therapy of septic shock
50 Prospective, Open-label, Multicentre Clinical Trial, Phase I/IIa, to Investigate the Safety and Tolerability of Allogeneic B-cell Concentrates CD3+-Depleted, CD19+-Enriched, Cryopreserved (Single Administration After Day 120 Following Allogeneic Stem Cell Transplantation (SCT), Donor-identical) in 4 Groups With Escalating Doses for Immune Response Enhancement, Measured as Response to a Antedated Single Vaccination Unknown status NCT02007811 Phase 1, Phase 2

Search NIH Clinical Center for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2

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Genetic Tests for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

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Genetic tests related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2:

# Genetic test Affiliating Genes
1 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 28 TERC
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Anatomical Context for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

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Organs/tissues related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2:

MalaCards : Bone Marrow, Bone, Myeloid, T Cells, Placenta, Liver, Kidney
Sources

Publications for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

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Articles related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2:

(show top 50) (show all 8709)
# Title Authors PMID Year
1
Telomerase mutations in families with idiopathic pulmonary fibrosis. 62 57 5
17392301 2007
2
Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia. 57 5
19760749 2009
3
Short telomeres are a risk factor for idiopathic pulmonary fibrosis. 57 5
18753630 2008
4
Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA. 57 5
14630445 2003
5
Association between aplastic anaemia and mutations in telomerase RNA. 57 5
12090986 2002
6
Targeted resequencing of 52 bone marrow failure genes in patients with aplastic anemia reveals an increased frequency of novel variants of unknown significance only in SLX4. 62 5
24763404 2014
7
Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase. 62 57
21436073 2011
8
Progressive telomere shortening in aplastic anemia. 62 57
9572992 1998
9
Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. 5
29483670 2018
10
Erratum: Parry EM, Alder JK, Qi X, Chen JJ-L, Armanios M. Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase. Blood. 2011;117(21):5607-5611. 5
31265491 2016
11
Triallelic and epigenetic-like inheritance in human disorders of telomerase. 5
26024875 2015
12
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. 57
11574891 2001
13
Molecular mechanisms underlying the role of HLA-DQ in systemic immune activation in severe aplastic anemia. 62
36334505 2023
14
Coronary spastic angina in a 9-year-old male child with aplastic anemia treated with anti-thymocyte globulin and calcineurin inhibitors. 62
35652570 2023
15
Assessing patient attitudes toward genetic testing for hereditary hematologic malignancy. 62
36209474 2023
16
Production and nonclinical evaluation of an autologous iPSC-derived platelet product for the iPLAT1 clinical trial. 62
36149941 2022
17
Clinical characteristics and prognostic factors in intracranial hemorrhage patients with hematological diseases. 62
36178488 2022
18
Impaired immunosuppressive role of myeloid-derived suppressor cells in acquired aplastic anemia. 62
35734923 2022
19
A mouse model of irradiation and spleen-thymus lymphocyte infusion induced aplastic anemia. 62
36004514 2022
20
The efficacy and safety of cyclosporine A plus androgen versus androgen alone for adult patients with non-severe aplastic anemia in China: a meta-analysis of randomized controlled trials. 62
35688457 2022
21
Iron chelation of hetrombopag in aplastic anemia: a post hoc analysis of a phase II study. 62
36220881 2022
22
Real-world experience of treatment with thrombopoietin receptor agonists in anti-thymocyte globulin-naïve patients with aplastic anemia: an observational retrospective analysis in a single institution. 62
35306963 2022
23
Comparable long-term outcomes between upfront haploidentical and identical sibling donor transplant in aplastic anemia: a national registry-based study. 62
35615930 2022
24
A case of azathioprine-induced aplastic anemia. 62
35799500 2022
25
Very severe aplastic anemia with papillary thyroid carcinoma: treatment with allo-HSCT-a case report and literature review. 62
36269399 2022
26
Quantitative Assessment of Bone Marrow Activity Using 18 F-FLT PET in Aplastic Anemia and Myelodysplastic Syndromes. 62
36190714 2022
27
Outcomes of patients who underwent treatment for anti-HLA donor-specific antibodies before receiving a haploidentical hematopoietic cell transplant. 62
36129238 2022
28
Very severe immune aplastic anemia after mRNA vaccination against COVID-19 responds well to immunosuppressive therapy: clinical characteristics and comparison to previous reports. 62
36314944 2022
29
Outcomes and risk factors of hemorrhagic cystitis in pediatric allogeneic hematopoietic stem cell transplantation recipients using different graft source and condition with severe aplastic anemia. 62
35688452 2022
30
SARS-CoV-2 mRNA vaccination of aplastic anemia patients is safe and effective. 62
36371670 2022
31
Outcome of peripheral blood stem cell transplantation from HLA-identical sibling donors for adult patients with aplastic anemia. 62
36378405 2022
32
Prognostic Impact of Quantifying Sarcopenia and Adipopenia by Chest CT in Severe Aplastic Anemia Patients Treated With Allogeneic Hematopoietic Stem Cell Transplantation. 62
36379814 2022
33
Impact of antithymocyte globulin on blood cyclosporin A levels in aplastic anemia patients. 62
36435888 2022
34
Efficacy and safety of equine anti-thymocyte immunoglobulin (eATG) in three Japanese patients with moderate to very severe aplastic anemia: a case series. 62
36441357 2022
35
Dysmegakaryopoiesis and Transient Mild Increase in Bone Marrow Blasts in Patients With Aplastic Anemia Treated With Eltrombopag May Be Signs of Hematologic Improvement and Not Portend Clonal Evolution. 62
36018052 2022
36
Hematopoietic stem cell transplantation activity in China 2020-2021 during the SARS-CoV-2 pandemic: a report from the Chinese Blood and Marrow Transplantation Registry Group. 62
36402457 2022
37
Clinical significance of the increased expression of the WT1 gene in peripheral blood of patients with acquired aplastic anemia. 62
36467821 2022
38
Genetic analysis of a Fanconi anemia case revealed the presence of FANCF mutation (exon 1;469>C-T) with implications to develop acute myeloid leukemia. 62
36369330 2022
39
Haploidentical hematopoietic cell transplant for severe aplastic anemia in children with carbapenem-resistant enterocolitis. 62
35502913 2022
40
Pre-existing pulmonary fibrosis is associated with adverse outcomes after lung resection. 62
36347082 2022
41
Cytokines help suggest aplastic anemia with pulmonary bacterial or co-fungal infection. 62
36319826 2022
42
Linalool reverses benzene-induced cytotoxicity, oxidative stress and lysosomal/mitochondrial damages in human lymphocytes. 62
34304650 2022
43
Aplastic anemia: a new complication in the recent mysterious hepatitis outbreak among children worldwide: two case reports. 62
36329514 2022
44
Feasibility of electronic patient-reported outcome monitoring and self-management program in aplastic anemia and paroxysmal nocturnal hemoglobinuria-a pilot study (ePRO-AA-PNH). 62
36326854 2022
45
Avatrombopag is effective in patients with chemoradiotherapy-induced aplastic anemia: a single-center, retrospective study. 62
36400314 2022
46
First-line immunosuppressive therapy with rATG and CsA for severe aplastic anemia: 15 years' experience. 62
36151352 2022
47
What is responsible for acute myocardial infarction in combination with aplastic anemia? A case report and literature review. 62
36405262 2022
48
Feasibility of thoracic CT in assessing anemia for aplastic anemia patients undergoing allogeneic hematopoietic stem cell transplantation. 62
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Thiotepa-based reduced toxicity conditioning in combination with post-transplant cyclophosphamide and mTOR inhibitor for heavily transfused acquired severe aplastic anemia in children and young adults: encouraging outcomes of a pilot study. 62
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A real-word experience of eltrombopag plus rabbit antithymocyte immunoglobulin-based IST in Chinese patients with severe aplastic anemia. 62
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Variations for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

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ClinVar genetic disease variations for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2:

5 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TERC NR_001566.1(TERC):n.212C>G SNV Pathogenic
 36953 GRCh37: 3:169482637-169482637
GRCh38: 3:169764849-169764849
2 TERC NR_001566.1(TERC):n.69_74dup DUP Pathogenic
 446376 rs1553915621 GRCh37: 3:169482774-169482775
GRCh38: 3:169764986-169764987
3 TERC NR_001566.1(TERC):n.107G>T SNV Pathogenic
 446377 rs1553915617 GRCh37: 3:169482742-169482742
GRCh38: 3:169764954-169764954
4 TERC NR_001566.1(TERC):n.118GCGG[1] MICROSAT Pathogenic
 446378 rs1553915612 GRCh37: 3:169482724-169482727
GRCh38: 3:169764936-169764939
5 TERC NR_001566.1(TERC):n.407_408delinsAA INDEL Pathogenic
 446379 rs1553915580 GRCh37: 3:169482441-169482442
GRCh38: 3:169764653-169764654
6 TERC NR_001566.1(TERC):n.143G>A SNV Pathogenic
 39282 rs199422274 GRCh37: 3:169482706-169482706
GRCh38: 3:169764918-169764918
7 TERC NR_001566.1(TERC):n.110_113del DEL Pathogenic
 7325 rs199422270 GRCh37: 3:169482736-169482739
GRCh38: 3:169764948-169764951
8 TERC NR_001566.1(TERC):n.98G>A SNV Pathogenic
 7327 rs199422268 GRCh37: 3:169482751-169482751
GRCh38: 3:169764963-169764963
9 LOC110806306, TERC NR_001566.1(TERC):n.58G>A SNV Pathogenic
 7323 rs113487931 GRCh37: 3:169482791-169482791
GRCh38: 3:169765003-169765003
10 TERC NR_001566.1(TERC):n.116C>T SNV Pathogenic
 7326 rs199422272 GRCh37: 3:169482733-169482733
GRCh38: 3:169764945-169764945
11 TERC NR_001566.1(TERC):n.325G>T SNV Pathogenic
 7328 GRCh37: 3:169482524-169482524
GRCh38: 3:169764736-169764736
12 TERC NR_001566.1(TERC):n.72C>G SNV Pathogenic
 7324 rs199422265 GRCh37: 3:169482777-169482777
GRCh38: 3:169764989-169764989
13 TERC NR_001566.1(TERC):n.204C>G SNV Pathogenic
 7322 rs199422277 GRCh37: 3:169482645-169482645
GRCh38: 3:169764857-169764857
14 TERC NR_001566.1(TERC):n.95G>C SNV Likely Pathogenic
 983511 rs1777963668 GRCh37: 3:169482754-169482754
GRCh38: 3:169764966-169764966
15 LOC110806306, TERC NR_001566.1(TERC):n.36C>T SNV Uncertain Significance
 619284 rs1248582778 GRCh37: 3:169482813-169482813
GRCh38: 3:169765025-169765025
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Expression for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

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Search GEO for disease gene expression data for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2.
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Pathways for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

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GO Terms for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

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Sources for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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