PFBMFT2
MCID: PLM175
MIFTS: 49

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

Categories: Bone diseases, Cancer diseases, Genetic diseases, Immune diseases

Aliases & Classifications for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

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 58 30 6 74
Aplastic Anemia 58 74
Fibrosis, Pulmonary, and/or Bone Marrow Failure, Telomere-Related, Type 2 41
Pulmonary Fibrosis, Idiopathic, Susceptibility to 58
Pulmonary Fibrosis, Idiopathic 58
Pfbmft2 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
adult onset
incomplete penetrance
variable manifestations


HPO:

33
pulmonary fibrosis and/or bone marrow failure, telomere-related, 2:
Onset and clinical course adult onset incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



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

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

Description from OMIM: 614743

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

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

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 335)
# Related Disease Score Top Affiliating Genes
1 aplastic anemia 13.0
2 pulmonary fibrosis, idiopathic 12.9
3 retinopathy aplastic anemia neurological abnormalities 12.3
4 bone marrow failure syndrome 1 12.0
5 congenital hypoplastic anemia 11.9
6 dyskeratosis congenita, autosomal dominant 6 11.8
7 deficiency anemia 11.7
8 paroxysmal nocturnal hemoglobinuria 11.7
9 dyskeratosis congenita, autosomal dominant 2 11.6
10 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 11.6
11 dyskeratosis congenita 11.5
12 eosinophilic fasciitis 11.5
13 revesz syndrome 11.4
14 idiopathic interstitial pneumonia 11.4
15 amegakaryocytic thrombocytopenia, congenital 11.4
16 immunodeficiency 21 11.4
17 wt limb-blood syndrome 11.3
18 dyskeratosis congenita, autosomal dominant 3 11.3
19 dyskeratosis congenita, autosomal recessive 5 11.3
20 dyskeratosis congenita, autosomal recessive 1 11.1
21 lymphoproliferative syndrome, x-linked, 1 11.1
22 dyskeratosis congenita, autosomal recessive 2 11.1
23 dyskeratosis congenita, autosomal recessive 3 11.1
24 dyskeratosis congenita, autosomal recessive 6 11.1
25 pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 11.1
26 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 11.1
27 myelophthisic anemia 11.1
28 sideroblastic anemia 11.1
29 littoral cell angioma of the spleen 11.1
30 pulmonary fibrosis 10.9
31 leukemia 10.9
32 hepatitis 10.8
33 myelodysplastic syndrome 10.8
34 hematopoietic stem cell transplantation 10.8
35 hemoglobinuria 10.8
36 granulocytopenia 10.5
37 acute leukemia 10.5
38 graft-versus-host disease 10.5
39 myeloid leukemia 10.5
40 lupus erythematosus 10.5
41 fanconi anemia, complementation group a 10.4
42 systemic lupus erythematosus 10.4
43 thymoma, familial 10.4
44 leukemia, acute myeloid 10.4
45 thrombocytopenia 10.4
46 thymoma 10.4
47 lymphoproliferative syndrome 10.4
48 acute liver failure 10.4
49 lymphoma 10.4
50 hepatitis c 10.4

Comorbidity relations with Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 via Phenotypic Disease Network (PDN): (show all 17)


Acquired Thrombocytopenia Active Peptic Ulcer Disease
Acute Cystitis Acute Kidney Failure
Aortic Valve Disease 1 Chronic Kidney Failure
Decubitus Ulcer Deficiency Anemia
Familial Atrial Fibrillation Heart Disease
Hypothyroidism Iron Deficiency Anemia
Ischemic Heart Disease 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

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

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

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 cirrhosis 33 occasional (7.5%) HP:0001394
2 pulmonary fibrosis 33 HP:0002206
3 bone marrow hypocellularity 33 HP:0005528
4 aplastic anemia 33 HP:0001915
5 premature graying of hair 33 HP:0002216
6 leukemia 33 HP:0001909
7 myeloid leukemia 33 HP:0012324

Symptoms via clinical synopsis from OMIM:

58
Respiratory Lung:
pulmonary fibrosis

Skin Nails Hair Hair:
premature graying of the hair

Laboratory Abnormalities:
decreased telomere length in lymphocytes

Hematology:
pancytopenia
aplastic anemia
bone marrow failure

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

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


angina pectoris, edema, chest pain

Drugs & Therapeutics for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

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 228)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 135968-09-1
2
tannic acid Approved Phase 4,Phase 3,Phase 2,Phase 1 1401-55-4
3
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 22916-47-8 4189
4
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
5
Sargramostim Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 123774-72-1, 83869-56-1
6
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 50-18-0, 6055-19-2 2907
7
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 1 53-03-2 5865
8
Iron Approved, Experimental Phase 4,Phase 2 7439-89-6, 15438-31-0 27284 23925
9
Deferasirox Approved, Investigational Phase 4,Phase 2 201530-41-8 5493381
10
Radium Ra 223 dichloride Approved, Investigational Phase 4,Phase 1,Phase 2 444811-40-9
11
Posaconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Not Applicable 171228-49-2 147912
12
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
13
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
14
Sodium Citrate Approved, Investigational Phase 4 68-04-2
15
Mechlorethamine Approved, Investigational Phase 4,Phase 2,Not Applicable 51-75-2 4033
16
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Not Applicable 1406-16-2
17
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
18
Calcium Approved, Nutraceutical Phase 4,Phase 3,Not Applicable 7440-70-2 271
19
Vitamin D3 Approved, Nutraceutical Phase 4,Not Applicable 67-97-0 5280795 6221
20
Ergocalciferol Approved, Nutraceutical Phase 4,Not Applicable 50-14-6 5280793
21
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 5283731 6433735
22 Cyclosporins Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
23 Dermatologic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
24 Alkylating Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
25 Calcineurin Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
26 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
27 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
28 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
29 Antifungal Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
30 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
31 Antineoplastic Agents, Alkylating Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
32 Antilymphocyte Serum Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
33 Thymoglobulin Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
34 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
35 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
36 Autonomic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
37 Neuroprotective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
38 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
39 Antiparasitic Agents Phase 4,Phase 2,Not Applicable
40 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
41 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
42 Bone Density Conservation Agents Phase 4,Phase 1,Phase 2,Not Applicable
43 Antibodies Phase 4,Phase 2,Phase 1,Not Applicable
44 Immunoglobulins Phase 4,Phase 2,Phase 1,Not Applicable
45 Iron Chelating Agents Phase 4,Phase 2
46 Chelating Agents Phase 4,Phase 2
47 Steroid Synthesis Inhibitors Phase 4,Phase 2,Not Applicable
48 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 2,Not Applicable
49 Antiprotozoal Agents Phase 4,Phase 2,Not Applicable
50 Hematinics Phase 4

Interventional clinical trials:

(show top 50) (show all 282)
# Name Status NCT ID Phase Drugs
1 Moderate-dose Cyclophosphamide for Childhood Acquired Aplastic Anemia Unknown status NCT01995331 Phase 4 cyclophosphamide,cyclosporine A
2 Different Doses of Anti-thymocyte Globin to Treat Child Severe Aplastic Anemia Unknown status NCT01997372 Phase 4 ATG
3 Treatment Protocol of Child SAA With the Injection of Mesenchymal Stem Cells(Umbilical Cord Derived) Unknown status NCT02218437 Phase 4 MSC+ATG
4 Safety and Efficacy of Exjade in the Treatment of Transfusion-dependent Iron Overload in Aplastic Anemia Patients Completed NCT01818726 Phase 4 ICL670A and standard immunosupressive therapy (Cyclosporine A);Immunosupressive therapy (Cyclosporine A)
5 Safety and Efficacy of Desferasirox in Chinese Patients With Iron Overload and Aplastic Anemia Completed NCT01546415 Phase 4 Desferasirox
6 The Efficacy of Immunosuppressive Therapy Combined With Cord Blood Transfusion in Treatment of Severe Aplastic Anemia Recruiting NCT02745717 Phase 4 Thymoglobulin;Cyclosporine Oral Product
7 Eltrombopag in Children With Idiopathic Aplastic Anemia Recruiting NCT03243656 Phase 4 Eltrombopag
8 Diabetic Artery Obstruction: is it Possible to Reduce Ischemic Events With Cilostazol? Recruiting NCT02983214 Phase 4 Clopidogrel;Cilostazol
9 Radium-223 Dichloride Long-term Follow-up Program Recruiting NCT02312960 Phase 4
10 King's Invasive Aspergillosis Study II Active, not recruiting NCT02875743 Phase 4 Posaconazole
11 Ferric Citrate in ESRD Pilot Project Active, not recruiting NCT03055598 Phase 4 Ferric Citrate
12 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 in Pediatric Patients Undergoing HSCT Enrolling by invitation NCT03176849 Phase 4
13 ATG Combined With Cyclophosphamide And Cord Blood Transfusion in Treating Patients With Severe Aplastic Anemia Not yet recruiting NCT02838992 Phase 4 Rabbit ATG, (Genzyme);Cy;CsA
14 Combination of Thrombopoietin Mimetic and Immunosuppressive Therapy in Aplastic Anaemia Not yet recruiting NCT03896971 Phase 4 Combination of thrombopoietin mimetic and cyclosporin A
15 Comparison of Cy-Atg vs Flu-Atg for the Conditioning Therapy in Allo-HCT for Adult Aplastic Anemia Unknown status NCT01145976 Phase 3 Cy-ATG;Flu-ATG
16 Randomised Study Comparing Different Dosages of Rabbit ATG in Patients With SAA Unknown status NCT01844635 Phase 3 Thymoglobulin
17 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
18 Stem Cell Transplant (SCT) for Dyskeratosis Congenita or SAA Completed NCT00455312 Phase 2, Phase 3 Campath 1H;Cyclophosphamide;Fludarabine;antithymocyte globulin;Methylprednisolone
19 Multi-Center Trial of Anti-Thymocyte Globulin in Treatment of Aplastic Anemia and Other Hematologic Disorders Completed NCT00000597 Phase 3 antilymphocyte serum;nandrolone
20 Eculizumab to Treat Paroxysmal Nocturnal Hemoglobinuria Completed NCT00098280 Phase 3 Eculizumab
21 High Dose Cyclophosphamide for Treatment of Scleroderma Completed NCT00501995 Phase 3 IV Cyclophosphamide
22 Efficacy and Safety of Eltrombopag + CSA in Patients With Moderate Aplastic Anemia (EMAA) Recruiting NCT02773225 Phase 2, Phase 3 Eltrombopag;Placebo (for Eltrombopag)
23 Eltrombopag+hATG+CsA vs. hATG+CsA in Children With Severe AA Recruiting NCT03413306 Phase 3 Eltrombopag;IST (ATG + CsA)
24 hATG+CsA vs hATG+CsA+Eltrombopag for SAA Recruiting NCT02099747 Phase 3 hATG;CsA;Eltrombopag
25 Transfusion Strategy in Hematological Intensive Care Unit Recruiting NCT02461264 Phase 3 Single red blood packed cells Transfusion;Two packed red blood cells Transfusion
26 Study of Romiplostim(AMG531) in Subjects With Aplastic Anemia Active, not recruiting NCT02773290 Phase 2, Phase 3
27 Combination Chemotherapy and Donor Stem Cell Transplant in Treating Patients With Aplastic Anemia or Hematologic Cancer Active, not recruiting NCT00003816 Phase 2, Phase 3 busulfan;carboplatin;cyclophosphamide;etoposide;fludarabine phosphate;melphalan;thiotepa
28 Study of AMG531(Romiplostim) in Patients With Aplastic Anemia Not yet recruiting NCT03957694 Phase 2, Phase 3 Romiplostim
29 Peripheral Blood Allogenic Stem Cell Transplantation Using Non-anti Thymocyte Globulin Regimens in Severe Aplastic Anemia Patients Not yet recruiting NCT03295058 Phase 2, Phase 3 Non ATG Conditioning regimen;GVHD Prophylaxis;ATG conditioning regimen
30 Hetrombopag or Placebo in Treatment-Naive Severe Aplastic Anemia Not yet recruiting NCT03825744 Phase 3 Hetrombopag Olamine+Standard Therapy;Placebo+Standard Therapy
31 Randomized Study In Severe Aplastic Anemia Patients Receiving Atg, Cyclosporin A, With Or Without G-CSF (SAA-G-CSF) Terminated NCT01163942 Phase 3 G-CSF;Early retreatment with ATG
32 Trial of Two Central Venous Catheter (CVC) Flushing Schemes in Pediatric Hematology and Oncology Patients Terminated NCT01343680 Phase 3 Heparin;Normal saline
33 A Study of Eltrombopag or Placebo in Combination With Azacitidine in Subjects With International Prognostic Scoring System (IPSS) Intermediate-1, Intermediate-2 or High-risk Myelodysplastic Syndromes (MDS) Terminated NCT02158936 Phase 3 Eltrombopag;Azacitidine;Placebo;Placebo
34 Safety and Efficacy of Patient's Own AD-MSC and AD-HSC Transplantation in Patients With Severe Aplastic Anemia Unknown status NCT02407470 Phase 1, Phase 2 Rabbit antithymoglobulin (ATG)
35 Study of Fludarabine + Cyclophosphamide + TBI Conditioning Regimen for Double Units Cord Blood Transplantation(CBT)in Severe Aplastic Anemia(SAA) Unknown status NCT00881933 Phase 1, Phase 2
36 A Single-Arm Phase 2 Study With Optimized Standard Protocol for Severe Aplastic Anemia Unknown status NCT02203396 Phase 2 rabbit ATG, Cyclosporine, Levamisole
37 Mesenchymal Stem Cells Co-transplantation in Alternative Donor Transplantation of Severe Aplastic Anemia. Unknown status NCT02247973 Phase 2
38 Haploidentical Stem Cell Transplantation for Children With Acquired Severe Aplastic Anemia Unknown status NCT01759732 Phase 2 Fludarabine;Cyclophosphamide
39 Reduced Toxicity Fludarabine (Flu) + Cyclophosphamide (CPM) + Rabbit Antithymocyte Globulin (rATG) Conditioning Regimen for Unrelated Donor Transplantation in Severe Aplastic Anemia (SAA) Unknown status NCT00882323 Phase 2 Cyclophosphamide, Fludarabine, Thymoglobulin
40 Rabbit Antithymocyte Globulin (Thymoglobuline) With Ciclosporin for Patients With Acquired Aplastic Anaemia Unknown status NCT00471848 Phase 2 rabbit antithymocyte globulin
41 Mesenchymal Stem Cells Transplantation to Patients With Relapsed/Refractory Aplastic Anemia. Unknown status NCT01305694 Phase 1, Phase 2
42 Alemtuzumab and Low-Dose Cyclosporine in Treating Patients With Severe Aplastic Anemia or Acquired Marrow Failure Unknown status NCT00895739 Phase 2 cyclosporine
43 Safety and Efficacy Study of Umbilical Cord/Placenta-Derived Mesenchymal Stem Cells to Treat Severe Aplastic Anemia Unknown status NCT01182662 Phase 2
44 Safety and Efficacy Study of Ex Vivo Immunotherapy for Treatment of Aplastic Anemia Unknown status NCT00399971 Phase 1, Phase 2 Ex vivo immunotherapy
45 Flu+CPM+rATG Conditioning Regimes for Unrelated Bone Marrow Transplantation (UBMT)(or Mobilized Peripheral Blood)in Severe Aplastic Anemia (SAA) Unknown status NCT00737685 Phase 2 cyclophosphamide, fludarabine , thymoglobulin
46 Sirolimus and Cyclosporine for Treatment-Resistant Aplastic Anemia Unknown status NCT00319878 Phase 1, Phase 2 Sirolimus;Cyclosporine
47 Umbilical Cord Blood and Placental Blood Transplantation in Treating Patients With Hematologic Cancer or Aplastic Anemia Unknown status NCT00008164 Phase 2
48 Nandrolone Decanoate in the Treatment of Telomeropathies Unknown status NCT02055456 Phase 1, Phase 2 Nandrolone Decanoate
49 Effectiveness and Safety of MMSCs for Enhancing Hematopoietic Recovery and Prophylaxis of Neutropenic Enterocolitis Unknown status NCT02145923 Phase 1, Phase 2 High-dose chemotherapy;Bone marrow derived allogeneic MMSCs infusion
50 Safety Study of CD3/CD19 Depleted Haploidentical Stem Cells Unknown status NCT01919866 Phase 1, Phase 2

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

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

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 30 TERC

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

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

42
Bone, Bone Marrow, T Cells, Myeloid, Kidney, Prostate, B Cells

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

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

(show top 50) (show all 3170)
# Title Authors Year
1
Corticosteroid Therapy for Indeterminate Pediatric Acute Liver Failure and Aplastic Anemia with Acute Hepatitis. ( 30770193 )
2019
2
Effectiveness of eculizumab in patients with paroxysmal nocturnal hemoglobinuria (PNH) with or without aplastic anemia in the International PNH Registry. ( 30370949 )
2019
3
Efficacy and Safety of Eltrombopag for Aplastic Anemia: A Systematic Review and Meta-analysis. ( 30406906 )
2019
4
Successful long-term hematological and immunological reconstitution by autologous cord blood transplantation combined with post-transplant immunosuppression in two children with severe aplastic anemia. ( 30407702 )
2019
5
Epidemiological, clinical and genetic characterization of aplastic anemia patients in Pakistan. ( 30426156 )
2019
6
NK cells suppress CD8+ T cell immunity via NKG2D in severe aplastic anemia. ( 30471872 )
2019
7
The world's first clinical trial for an aplastic anemia patient with thrombocytopenia administering platelets generated from autologous iPS cells. ( 30535854 )
2019
8
Autologous cord blood transplantation in children with acquired severe aplastic anemia. ( 30536537 )
2019
9
Long-term safety and efficacy of deferasirox in patients with myelodysplastic syndrome, aplastic anemia and other rare anemia in Taiwan. ( 30558522 )
2019
10
First line treatment of aplastic anemia with thymoglobuline in Europe and Asia: Outcome of 955 patients treated 2001-2012. ( 30561167 )
2019
11
Immunosuppressive therapy with rabbit antithymocyte globulin therapy for acquired aplastic anemia: a multi-institutional retrospective study in Japanese adult patients. ( 30627868 )
2019
12
Fatigue, symptom burden, and health-related quality of life in patients with myelodysplastic syndrome, aplastic anemia, and paroxysmal nocturnal hemoglobinuria. ( 30632713 )
2019
13
Comparable Outcome with a Faster Engraftment of Optimized Haploidentical Hematopoietic Stem Cell Transplantation Compared with Transplantations from Other Donor Types in Pediatric Acquired Aplastic Anemia. ( 30639824 )
2019
14
Consider Allogeneic Bone Marrow Transplantation for Older, Fit Patients with Aplastic Anemia. ( 30641134 )
2019
15
A cohort study of immune and hematopoietic functionality changes in severe aplastic anemia patients treated with immunosuppressive therapy. ( 30653151 )
2019
16
Comparison of Outcomes of Frontline Immunosuppressive Therapy and Frontline Haploidentical Hematopoietic Stem Cell Transplantation for Children with Severe Aplastic Anemia Who Lack an HLA-Matched Sibling Donor. ( 30658223 )
2019
17
Nationwide survey in France on the use of romiplostim in patients with refractory severe aplastic anemia. ( 30670823 )
2019
18
Immunosuppressive therapy versus haploidentical transplantation in adults with acquired severe aplastic anemia. ( 30670825 )
2019
19
Antithymocyte globulin and cyclosporin: standard of care also for older patients with aplastic anemia. ( 30705112 )
2019
20
Successful treatment of severe aplastic anemia with syngeneic stem cell transplantation in the setting of active disseminated mucormycosis. ( 30705813 )
2019
21
False Negativity of Tc-99m Labeled Sodium Phytate Bone Marrow Imaging Under the Effect of G-CSF Prescription in Aplastic Anemia: A Case Report. ( 30705914 )
2019
22
A Case of Aplastic Anemia Associated With Long-Term Metronidazole Use. ( 30727812 )
2019
23
GDF11 is increased in patients with aplastic anemia. ( 30727851 )
2019
24
Contribution of autophagy-related gene 5 variants to acquired aplastic anemia in Han-Chinese population. ( 30767262 )
2019
25
CD56bright natural killer cells exhibit abnormal phenotype and function in severe aplastic anemia. ( 30779419 )
2019
26
Nivolumab Induced Lethal Aplastic Anemia in a Patient with Metastatic Melanoma. ( 30792642 )
2019
27
Multiple risks analysis for aplastic anemia in Zhejiang, China: A case-control study. ( 30813154 )
2019
28
Current concepts of the Pathogenesis of Aplastic Anemia. ( 30864496 )
2019
29
Exosomal sphingosine 1-phosphate secreted by mesenchymal stem cells regulated Treg/Th17 balance in aplastic anemia. ( 30889317 )
2019
30
Escape hematopoiesis by HLA-B5401-lacking hematopoietic stem progenitor cells in men with acquired aplastic anemia. ( 30890597 )
2019
31
Clinical and morphologic predictors of outcome in older aplastic anemia patients treated with eltrombopag. ( 30890599 )
2019
32
Eltrombopag combined with cyclosporine may have an effect on very severe aplastic anemia. ( 30891613 )
2019
33
Development of hemolytic paroxysmal nocturnal hemoglobinuria without graft loss following hematopoietic stem cell transplantation for acquired aplastic anemia. ( 30900367 )
2019
34
Abnormalities of quantities and functions of CD56bright natural killer cells in non-severe aplastic Anemia. ( 30907293 )
2019
35
Aplastic Anemia & MDS International Foundation (AA&MDSIF): Bone Marrow Failure Disease Scientific Symposium 2018. ( 30908982 )
2019
36
Evaluation of eltrombopag in patients with aplastic anemia in real-world experience. ( 30911464 )
2019
37
Use of eltrombopag in aplastic anemia in Europe. ( 30915499 )
2019
38
The oral microbiome of patients undergoing treatment for severe aplastic anemia: a pilot study. ( 30919073 )
2019
39
Comparable Outcomes of First-Line Hematopoietic Stem Cell Transplantation from Unrelated and Matched Sibling Donors in Adult Patients with Aplastic Anemia: A Retrospective Single-Center Study. ( 30926448 )
2019
40
Immunosuppressive therapy for pediatric aplastic anemia: a North American Pediatric Aplastic Anemia Consortium study. ( 30948484 )
2019
41
Hodgkin lymphoma patients have an increased incidence of idiopathic acquired aplastic anemia. ( 30951562 )
2019
42
Increased CD8+CD27+perforin+ T cells and decreased CD8+CD70+ T cells may be immune biomarkers for aplastic anemia severity. ( 30953940 )
2019
43
Outcome of allogeneic hematopoietic stem cell transplantation in adult patients with hepatitis-associated aplastic anemia. ( 30963471 )
2019
44
Immunosuppressive therapy (IST) in adult patients with acquired aplastic anemia (AA): A single-center experience over the past 15 years. ( 30977158 )
2019
45
Eltrombopag for refractory severe aplastic anemia: dosing, duration, long term outcomes and clonal evolution. ( 30992268 )
2019
46
Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes. ( 30995915 )
2019
47
Early Detection of Myelodysplastic Syndrome/Leukemia-associated Mutations Using NGS Is Critical in Treating Aplastic Anemia. ( 31016513 )
2019
48
Treatment of menorrhagia due to aplastic anemia by hysteroscopic resection of endometrial functional layer and levonorgestrel-releasing intra-uterine system: Three case reports. ( 31027059 )
2019
49
Treatment Effect of Low-Intensity Pulsed Ultrasound on Benzene- and Cyclophosphamide-Induced Aplastic Anemia in Rabbits. ( 31087076 )
2019
50
Current Treatment Patterns of Aplastic Anemia in China: A Prospective Cohort Registry Study. ( 31091521 )
2019

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

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

6 (show all 25)
# Gene Variation Type Significance SNP ID Assembly Location
1 TERC NR_001566.1(TERC): n.204C> G single nucleotide variant Pathogenic rs199422277 GRCh37 Chromosome 3, 169482645: 169482645
2 TERC NR_001566.1(TERC): n.204C> G single nucleotide variant Pathogenic rs199422277 GRCh38 Chromosome 3, 169764857: 169764857
3 TERC NR_001566.1(TERC): n.58G> A single nucleotide variant Benign rs113487931 GRCh37 Chromosome 3, 169482791: 169482791
4 TERC NR_001566.1(TERC): n.58G> A single nucleotide variant Benign rs113487931 GRCh38 Chromosome 3, 169765003: 169765003
5 TERC NR_001566.1(TERC): n.72C> G single nucleotide variant Pathogenic rs199422265 GRCh37 Chromosome 3, 169482777: 169482777
6 TERC NR_001566.1(TERC): n.72C> G single nucleotide variant Pathogenic rs199422265 GRCh38 Chromosome 3, 169764989: 169764989
7 TERC NR_001566.1(TERC): n.110_113delGACT deletion Pathogenic rs199422270 GRCh37 Chromosome 3, 169482736: 169482739
8 TERC NR_001566.1(TERC): n.110_113delGACT deletion Pathogenic rs199422270 GRCh38 Chromosome 3, 169764948: 169764951
9 TERC NR_001566.1(TERC): n.116C> T single nucleotide variant Pathogenic rs199422272 GRCh37 Chromosome 3, 169482733: 169482733
10 TERC NR_001566.1(TERC): n.116C> T single nucleotide variant Pathogenic rs199422272 GRCh38 Chromosome 3, 169764945: 169764945
11 TERC NR_001566.1(TERC): n.98G> A single nucleotide variant Pathogenic rs199422268 GRCh37 Chromosome 3, 169482751: 169482751
12 TERC NR_001566.1(TERC): n.98G> A single nucleotide variant Pathogenic rs199422268 GRCh38 Chromosome 3, 169764963: 169764963
13 TERC TERC, 325G-T single nucleotide variant Pathogenic
14 TERC TERC, 143G-A single nucleotide variant Pathogenic
15 TERC TERC, 212C-G single nucleotide variant Pathogenic
16 TERC NR_001566.1(TERC): n.407_408delTCinsAA indel Pathogenic rs1553915580 GRCh37 Chromosome 3, 169482441: 169482442
17 TERC NR_001566.1(TERC): n.407_408delTCinsAA indel Pathogenic rs1553915580 GRCh38 Chromosome 3, 169764653: 169764654
18 TERC NR_001566.1(TERC): n.122_125delGCGG deletion Pathogenic rs1553915612 GRCh37 Chromosome 3, 169482724: 169482727
19 TERC NR_001566.1(TERC): n.122_125delGCGG deletion Pathogenic rs1553915612 GRCh38 Chromosome 3, 169764936: 169764939
20 TERC NR_001566.1(TERC): n.107G> T single nucleotide variant Pathogenic rs1553915617 GRCh38 Chromosome 3, 169764954: 169764954
21 TERC NR_001566.1(TERC): n.107G> T single nucleotide variant Pathogenic rs1553915617 GRCh37 Chromosome 3, 169482742: 169482742
22 TERC NR_001566.1(TERC): n.69_74dup duplication Pathogenic rs1553915621 GRCh37 Chromosome 3, 169482775: 169482780
23 TERC NR_001566.1(TERC): n.69_74dup duplication Pathogenic rs1553915621 GRCh38 Chromosome 3, 169764987: 169764992
24 TERC NR_001566.1(TERC): n.36C> T single nucleotide variant Uncertain significance rs1248582778 GRCh37 Chromosome 3, 169482813: 169482813
25 TERC NR_001566.1(TERC): n.36C> T single nucleotide variant Uncertain significance rs1248582778 GRCh38 Chromosome 3, 169765025: 169765025

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

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

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

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

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

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