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

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 56 29 6 71
Aplastic Anemia 56 71
Fibrosis, Pulmonary, and/or Bone Marrow Failure, Telomere-Related, Type 2 39
Pulmonary Fibrosis, Idiopathic, Susceptibility to 56
Pulmonary Fibrosis, Idiopathic 56
Pfbmft2 56

Characteristics:

OMIM:

56
Miscellaneous:
adult onset
incomplete penetrance
variable manifestations

Inheritance:
autosomal dominant


HPO:

31
pulmonary fibrosis and/or bone marrow failure, telomere-related, 2:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset incomplete penetrance


Classifications:



External Ids:

OMIM 56 614743
OMIM Phenotypic Series 56 PS614742
MedGen 41 C3553622
UMLS 71 C0002874 C3553622

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 dyskeratosis congenita and aplastic anemia, 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 Mechlorethamine and Lenograstim 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

More information from OMIM: 614743 PS614742

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 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5

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 637)
# Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita 31.7 TERC LOC110806306
2 aplastic anemia 13.2
3 pulmonary fibrosis, idiopathic 13.0
4 retinopathy aplastic anemia neurological abnormalities 12.4
5 rare acquired aplastic anemia 12.4
6 rare constitutional aplastic anemia 12.4
7 congenital hypoplastic anemia 12.2
8 bone marrow failure syndrome 1 12.2
9 deficiency anemia 12.0
10 dyskeratosis congenita, autosomal dominant 6 12.0
11 idiopathic interstitial pneumonia 12.0
12 paroxysmal nocturnal hemoglobinuria 11.9
13 dyskeratosis congenita, autosomal dominant 2 11.7
14 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 11.7
15 hoyeraal hreidarsson syndrome 11.7
16 fanconi anemia, complementation group a 11.6
17 eosinophilic fasciitis 11.6
18 shwachman-diamond syndrome 1 11.6
19 revesz syndrome 11.6
20 sideroblastic anemia 11.6
21 amegakaryocytic thrombocytopenia, congenital 11.5
22 wt limb-blood syndrome 11.4
23 dyskeratosis congenita, autosomal dominant 3 11.4
24 dyskeratosis congenita, autosomal recessive 5 11.4
25 dyskeratosis congenita, autosomal recessive 1 11.2
26 lymphoproliferative syndrome, x-linked, 1 11.2
27 dyskeratosis congenita, autosomal recessive 2 11.2
28 dyskeratosis congenita, autosomal recessive 3 11.2
29 immunodeficiency 21 11.2
30 dyskeratosis congenita, autosomal recessive 6 11.2
31 pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 11.2
32 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 11.2
33 myelophthisic anemia 11.2
34 littoral cell angioma of the spleen 11.2
35 pancytopenia 11.1
36 graft-versus-host disease 11.1
37 myelodysplastic syndrome 11.0
38 pulmonary fibrosis 11.0
39 acute graft versus host disease 11.0
40 hemoglobinuria 11.0
41 acute leukemia 10.8
42 leukemia 10.8
43 neutropenia 10.8
44 thrombocytopenia 10.8
45 granulocytopenia 10.8
46 chronic graft versus host disease 10.7
47 leukemia, acute myeloid 10.7
48 hepatitis 10.7
49 autoimmune disease 10.7
50 fibrosis of extraocular muscles, congenital, 1 10.7

Comorbidity relations with Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 via Phenotypic Disease Network (PDN): (show all 15)


Acquired Thrombocytopenia Active Peptic Ulcer Disease
Acute Cystitis Acute Kidney Failure
Aortic Valve Disease 1 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

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:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 cirrhosis 31 occasional (7.5%) HP:0001394
2 pulmonary fibrosis 31 HP:0002206
3 bone marrow hypocellularity 31 HP:0005528
4 aplastic anemia 31 HP:0001915
5 premature graying of hair 31 HP:0002216
6 leukemia 31 HP:0001909
7 myeloid leukemia 31 HP:0012324

Symptoms via clinical synopsis from OMIM:

56
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 267)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mechlorethamine Approved, Investigational Phase 4 51-75-2 4033
2
Lenograstim Approved, Investigational Phase 4 135968-09-1
3
Radium Ra 223 dichloride Approved, Investigational Phase 4 444811-40-9
4
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
5
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
6
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
7
Nintedanib Approved Phase 4 656247-17-5 56843413
8
Pirfenidone Approved, Investigational Phase 4 53179-13-8 40632
9
Iron Approved, Experimental Phase 4 7439-89-6, 15438-31-0 23925 27284
10
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381
11
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
12
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
13
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
14
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
15
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 6433735 5283731
16 Nitrogen Mustard Compounds Phase 4
17 Hormone Antagonists Phase 4
18 Hormones Phase 4
19 Anti-Inflammatory Agents Phase 4
20 Gastrointestinal Agents Phase 4
21 Autonomic Agents Phase 4
22 glucocorticoids Phase 4
23 Adjuvants, Immunologic Phase 4
24 Antineoplastic Agents, Hormonal Phase 4
25
protease inhibitors Phase 4
26 HIV Protease Inhibitors Phase 4
27 BB 1101 Phase 4
28 Antiparasitic Agents Phase 4
29 Cytochrome P-450 Enzyme Inhibitors Phase 4
30 Antiprotozoal Agents Phase 4
31 Anticoagulants Phase 4
32 Steroid Synthesis Inhibitors Phase 4
33 Hematinics Phase 4
34 Ferric Compounds Phase 4
35 Vitamins Phase 4
36 Calciferol Phase 4
37 Calcium, Dietary Phase 4
38 Hydroxycholecalciferols Phase 4
39 Vitamin D2 Phase 4
40 Ergocalciferols Phase 4
41 Anti-Inflammatory Agents, Non-Steroidal Phase 4
42 Analgesics, Non-Narcotic Phase 4
43 Analgesics Phase 4
44 Nutrients Phase 4
45 Trace Elements Phase 4
46 Micronutrients Phase 4
47 Chelating Agents Phase 4
48 Iron Chelating Agents Phase 4
49
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030 46835353
50
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021

Interventional clinical trials:

(show top 50) (show all 585)
# Name Status NCT ID Phase Drugs
1 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
2 Moderate-dose Cyclophosphamide for Childhood Acquired Aplastic Anemia Unknown status NCT01995331 Phase 4 cyclophosphamide,cyclosporine A
3 Acute Effect of Sildenafil on Exercise Tolerance and Functional Capacity in COPD, IPF and Post Pneumonectomy Patients Unknown status NCT01382368 Phase 4 Sildenafil
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 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
6 Use of the Endothelin-1 Antagonist Bosentan in Patients With Established Pulmonary Hypertension and Fibrotic Lung Disease. - A Randomised, Placebo-Controlled, Double-Blinded Study. Unknown status NCT00637065 Phase 4 Bosentan;Placebo
7 Digital Auscultation Tool - Development of an Innovative Approach - Using Modern Technologies - to Improve the Diagnosis of Rare Lung Diseases - Expanded Data Collection Idiopathic Pulmonary Fibrosis Completed NCT03503188 Phase 4
8 A Single Arm, Multicenter, Open Label Study of Desferasirox in Chinese Patients With Iron Overload and Aplastic Anemia Completed NCT01546415 Phase 4 Desferasirox
9 A Twelve Week, Open-label, Randomised, Parallel-group Study Evaluating Safety, Tolerability and Pharmacokinetics (PK) of Oral Nintedanib in Combination With Oral Pirfenidone, Compared to Treatment With Nintedanib Alone, in Patients With Idiopathic Pulmonary Fibrosis (IPF) Completed NCT02579603 Phase 4 Nintedanib;Pirfenidone
10 A 12-week, Double Blind, Randomised, Placebo Controlled, Parallel Group Trial Followed by a Single Active Arm Phase of 40 Weeks Evaluating the Effect of Oral Nintedanib 150 mg Twice Daily on Change in Biomarkers of Extracellular Matrix (ECM) Turnover in Patients With Idiopathic Pulmonary Fibrosis (IPF) and Limited Forced Vital Capacity (FVC) Impairment. Completed NCT02788474 Phase 4 nintedanib;placebo
11 Investigation of Drug-drug Interaction Between Nintedanib and Pirfenidone in Patients With IPF (an Open Label, Multiple-dose, Two Group Study) Completed NCT02606877 Phase 4 nintedanib;pirfenidone
12 An Exploratory Multicenter, Open-Label, Single Arm Study of the Safety and Tolerability of Pirfenidone (Esbriet®) in Combination With Nintedanib (Ofev®) in Patients With Idiopathic Pulmonary Fibrosis Completed NCT02598193 Phase 4 Nintedanib;Pirfenidone
13 An Epidemiological Study to Assess the Prevalence of Iron Overload Using MRI in Patients With Transfusional Siderosis (TIMES Study) Completed NCT01736540 Phase 4
14 Study of Pulmonary Rehabilitation In Nintedanib Treated Patients With IPF: Improvements in Activity, Exercise Endurance Time, and QoL Recruiting NCT03717012 Phase 4 Nintedanib
15 The Efficacy of Immunosuppressive Therapy Combined With Cord Blood Transfusion in Treatment of Severe Aplastic Anemia Recruiting NCT02745717 Phase 4 Thymoglobulin;Cyclosporine Oral Product
16 Randomized Clinical Trial of the Use of Eltrombopag in Children With Idiopathic Aplastic Anemia Recruiting NCT03243656 Phase 4 Eltrombopag
17 Treatment With Thrombopoietin Mimetic Plus Immunosuppressive Therapy in Egyptian Patients With Aplastic Anaemia Recruiting NCT03896971 Phase 4 Combination of thrombopoietin mimetic and cyclosporin A
18 A Phase 4 Long-term Follow-up Study to Define the Safety Profile of Radium-223 Dichloride Recruiting NCT02312960 Phase 4
19 Collection of Granulocytes by Apheresis of Healthy Donors Stimulated With Filgrastim (G-CSF) and Dexamethasone Recruiting NCT01553214 Phase 4 Filgrastim;Dexamethasone
20 Incidence of Invasive Fungal Disease in Patients Receiving Immunosuppressive Therapy, Intensive Chemotherapy or Reduced Intensity Haematopoietic Stem Cell Transplantation on Posaconazole Prophylaxis Active, not recruiting NCT02875743 Phase 4 Posaconazole
21 Effect of Auryxia on ESA Utilization in ESRD Patients With High Ferritin & Low Transferrin Saturation: A Pilot Project Active, not recruiting NCT03055598 Phase 4 Ferric Citrate
22 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 Enrolling by invitation NCT03176849 Phase 4
23 Pragmatic Management of Progressive Disease in Idiopathic Pulmonary Fibrosis: a Randomized Trial Not yet recruiting NCT03939520 Phase 4 pirfenidone and nintedanib;pirfenidone or nintedanib
24 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
25 Employment of 68Ga-DOTA-NOC in Patients With Idiopathic Pulmonary Fibrosis Terminated NCT01321996 Phase 4
26 Treatment of Pulmonary Arterial Hypertension Secondary to Idiopathic Pulmonary Hypertension With Bosentan: A Single Center Pilot Study Withdrawn NCT00625469 Phase 4 bosentan
27 Randomized Placebo-Controlled Study of Sildenafil For The Treatment of Pulmonary Hypertension Secondary to Idiopathic Pulmonary Fibrosis: A Pilot Study Withdrawn NCT00625079 Phase 4 sildenafil
28 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
29 Cyclophosphamide Added to Corticosteroid in the Treatment of Acute Exacerbation of Idiopathic Pulmonary Fibrosis: a Placebo-controlled Randomized Trial Unknown status NCT02460588 Phase 3 Cyclophosphamide;Placebo;Corticosteroid (prednisolone)
30 Minocycline Treatment in Patients With Idiopathic Pulmonary Fibrosis Being Treated With Standard of Care Therapy- a Pilot Study Unknown status NCT00203697 Phase 3 minocycline
31 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
32 A Decisional Algorithm to Start Iron Chelation in Minimally Transfused Young Beta-thalassemia Major Patients Naive to Iron Chelation Therapy. A Comparative Randomized Prospective Study Unknown status NCT02173951 Phase 2, Phase 3 Deferiprone
33 Prevention of Coronary Artery in STENT Restenosis With the Combined Use of Pioglitazone and Sirolimus-Eluting Coronary Stent Unknown status NCT00376870 Phase 3 Pioglitazone;Placebo
34 Idiopathic Pulmonary Fibrosis International Group Exploring NAC I Annual Study of the Effects of High-dose N-acetylcysteine (NAC) in Idiopathic Pulmonary Fibrosis (IPF) Completed NCT00639496 Phase 3 n-acetylcysteine;placebo
35 A Randomized, Double-Blind, Placebo-Controlled, Phase III Study of the Safety and Efficacy of Subcutaneous Recombinant Interferon-Gamma 1b in Patients With Idiopathic Pulmonary Fibrosis Completed NCT00047645 Phase 3 Interferon-gamma 1b
36 INSTAGE: A 24-week, Double-blind, Randomized, Parallel-group Study Evaluating the Efficacy and Safety of Oral Nintedanib Co-administered With Oral Sildenafil, Compared to Treatment With Nintedanib Alone, in Patients With Idiopathic Pulmonary Fibrosis (IPF) and Advanced Lung Function Impairment Completed NCT02802345 Phase 3 Nintedanib;Placebo;Sildenafil
37 A Randomized, Double-Blind, Placebo Controlled, Phase 3 Study of the Efficacy and Safety of Pirfenidone in Patients With Idiopathic Pulmonary Fibrosis (ASCEND Trial) Completed NCT01366209 Phase 3 Pirfenidone;Placebo
38 Effects of Bosentan on Morbidity and Mortality in Patients With Idiopathic Pulmonary Fibrosis - a Multicenter, Double-blind, Randomized, Placebo-controlled, Parallel Group, Event-driven, Group Sequential, Phase III Study. Completed NCT00391443 Phase 3 Bosentan;Placebo
39 Phase III Clinical Study of ART-123 for the Treatment of Acute Exacerbation of Idiopathic Pulmonary Fibrosis: a Multicenter Randomized Placebo-controlled Double-blind Study to Assess the Efficacy and Safety of ART-123 Completed NCT02739165 Phase 3 ART-123;Placebo
40 Open-Label Extension Study in Patients With Idiopathic Pulmonary Fibrosis Who Completed Protocol AC-052-321 (NCT00391443) Completed NCT00631475 Phase 3 Bosentan
41 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
42 Multi-Center Trial of Anti-Thymocyte Globulin in Treatment of Aplastic Anemia and Other Hematologic Disorders Completed NCT00000597 Phase 3 antilymphocyte serum;nandrolone
43 A Double-blind, Randomized, Placebo-controlled, Multicenter Study to Assess the Efficacy, Safety, and Tolerability of Bosentan in Patients With Idiopathic Pulmonary Fibrosis, Open Label Extension Completed NCT00071461 Phase 2, Phase 3 bosentan;Placebo
44 A Six Month Double Blind Randomized Placebo Controlled Trial Followed by Each Arm Being Converted to Oral Nintedanib 150 mg Twice Daily Comparing the Effect on High Resolution Computerized Tomography Quantitative Lung Fibrosis Score, Lung Function, Six Minute Walk Test Distance and St. George's Respiratory Questionnaire After Six Months of Treatment in Patients With Idiopathic Pulmonary Fibrosis With Continued Evaluations Over a Period of up to Eighteen Months Completed NCT01979952 Phase 3 Matching Placebo;Nintedanib
45 A 52 Weeks, Double Blind, Randomized, Placebo-controlled Trial Evaluating the Effect of Oral BIBF 1120, 150 mg Twice Daily, on Annual Forced Vital Capacity Decline, in Patients With Idiopathic Pulmonary Fibrosis (IPF) Completed NCT01335477 Phase 3 placebo;BIBF 1120
46 A 52 Weeks, Double Blind, Randomized, Placebo-controlled Trial Evaluating the Effect of Oral BIBF 1120, 150 mg Twice Daily, on Annual Forced Vital Capacity Decline, in Patients With Idiopathic Pulmonary Fibrosis (IPF) Completed NCT01335464 Phase 3 placebo;BIBF 1120
47 An Open-Label Extension Study of the Long Term Safety of Pirfenidone in Patients With Idiopathic Pulmonary Fibrosis (IPF) Completed NCT00662038 Phase 3 pirfenidone
48 A Double-Blind, Placebo-Controlled, Randomized Study of the Efficacy (Gleevec Imatinib Mesylate) in Patients With Idiopathic Pulmonary Fibrosis Completed NCT00131274 Phase 2, Phase 3 Imatinib Mesylate (Gleevec)
49 A Double-Blind, Placebo-Controlled, Multicenter, Dose-Ranging Study of an Anti-human-T-lymphocyte Immune Globulin (EZ-2053) in the Prophylaxis of Acute Pulmonary Allograft Rejection in Adult Recipients of Primary Pulmonary Allograft(s) Completed NCT00105183 Phase 3
50 A Randomized, Double-Blind, Placebo Controlled, Phase 3 Study of the Safety and Efficacy of Pirfenidone in Patients With Idiopathic Pulmonary Fibrosis Completed NCT00287729 Phase 3 Pirfenidone;Placebo

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 29 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:

40
Bone, Bone Marrow, T Cells, Lung, Liver, Myeloid, Testes

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 7824)
# Title Authors PMID Year
1
Telomerase mutations in families with idiopathic pulmonary fibrosis. 61 56 6
17392301 2007
2
Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia. 56 6
19760749 2009
3
Short telomeres are a risk factor for idiopathic pulmonary fibrosis. 56 6
18753630 2008
4
Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA. 56 6
14630445 2003
5
Association between aplastic anaemia and mutations in telomerase RNA. 56 6
12090986 2002
6
Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase. 61 56
21436073 2011
7
Progressive telomere shortening in aplastic anemia. 61 56
9572992 1998
8
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. 6
31265491 2016
9
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. 56
11574891 2001
10
T-lymphocyte subsets and Th1/Th2 cytokines in convalescent patients with Epstein-Barr virus-associated aplastic anemia. 61
31842718 2020
11
Epidemiology of aplastic anemia: a study of 1324 cases. 61
31906834 2020
12
Allogeneic hematopoietic stem cell transplantation for aplastic anemia with pre-transplant conditioning using fludarabine, reduced-dose cyclophosphamide, and low-dose thymoglobulin: A KSGCT prospective study. 61
31804748 2020
13
Changes in Different Cytokines (IL-2, TNF-α, and IFN-γ) Profile in Acquired Aplastic Anemia Patients: A Study From Eastern India. 61
32032240 2020
14
Successful Bone Marrow Recovery After an Immunoablative Regimen With Autologous Cord Blood Transplant in a Child With Idiopathic Severe Aplastic Anemia: A Case Report. 61
32035683 2020
15
Comparison of HLA-matched sibling and unrelated donor transplantation in adult patients with acquired severe aplastic anemia. 61
32024992 2020
16
Clinical diagnosis and treatment recommendations for immune checkpoint inhibitor-related hematological adverse events. 61
32017466 2020
17
Successful treatment of refractory red cell aplasia after allogeneic hematopoietic cell transplantation with daratumumab. 61
31693245 2020
18
Acute Kidney Injury and CKD Associated with Hematopoietic Stem Cell Transplantation. 61
31836598 2020
19
Attenuation of immune-mediated bone marrow damage in conventionally housed mice. 61
31898340 2020
20
Genome-wide Association Study Identifies HLA-DPB1 as a Significant Risk Factor for Severe Aplastic Anemia. 61
32004448 2020
21
[Th17 Cell Subset levels in Peripheral Blood of Patients with Aplastic Anemia and Their Clinical Significance]. 61
32027280 2020
22
[The Outcome of Severe Aplastic Anemia Children Treated with Reduced Dose of Cyclophosphamide Combined Cyclosporine A]. 61
32027281 2020
23
Cord blood infusion-accelerated hematopoietic recovery after combined immunosuppressive therapy with fludarabine and rabbit ATG in severe aplastic anemia. 61
31900878 2020
24
Partial T Cell-Depleted Peripheral Blood Stem Cell Transplantation from HLA-Identical Sibling Donors for Patients with Severe Aplastic Anemia. 61
31493538 2020
25
Synergistic effect of eltrombopag and deferasirox in aplastic anemia: a clinical case and review of the literature. 61
31502895 2020
26
Comparison of frontline treatment with intensive immunosuppression therapy and HLA-haploidentical hematopoietic stem cell transplantation for young patients with severe aplastic anemia - A meta analysis. 61
31743865 2020
27
Dual-layer detector spectral CT versus magnetic resonance imaging for the assessment of iron overload in myelodysplastic syndromes and aplastic anemia. 61
31989387 2020
28
Population frequency of Fanconi pathway gene variants and their association with survival after hematopoietic cell transplant for severe aplastic anemia. 61
31982544 2020
29
Two decades of experience in a combined adult/pediatric allogeneic hematopoietic stem cell transplantation center in Algiers, Algeria. 61
31974679 2020
30
Pharmacokinetics of Basiliximab for the Prevention of Graft-versus-Host Disease in Patients Undergoing Hematopoietic Cell Transplantation with Minimal-Intensity Cyclophosphamide and Fludarabine. 61
31742732 2020
31
Soluble NKG2D Ligands Are Potential Biomarkers and Sentinels of Immune-Mediated Bone Marrow Injury in Bone Marrow Failure Syndromes. 61
31216534 2020
32
Identification of chloramphenicol in human hair leading to a diagnosis of factitious disorder. 61
31913719 2020
33
Epimedium polysaccharides attenuates hematotoxicity by reducing oxidative stress and enhancing immune function in mice model of benzene-induced bone marrow failure. 61
32014688 2020
34
Interferon-γ exerts dual functions on human erythropoiesis via interferon regulatory factor 1 signal pathway. 61
31668371 2020
35
Detection of 6pLOH in an aplastic anemia patient by in phase HLA genotyping. 61
31970935 2020
36
[Progress in diagnosis and treatment in the elderly patients with aplastic anemia]. 61
32023761 2020
37
Hepatitis-associated aplastic anemia from workout supplement: Rare but potentially fatal entity. 61
32030129 2020
38
Impact of ABO incompatibility on outcomes after haploidentical hematopoietic stem cell transplantation for severe aplastic anemia. 61
31932654 2020
39
Successful engraftment of haploidentical bone marrow with post-transplantation cyclophosphamide in patients with aplastic anemia. 61
31944531 2020
40
Management of childhood aplastic anemia following liver transplantation for nonviral hepatitis: A French survey. 61
31925926 2020
41
Design, synthesis and characterization of a PEGylated stanozolol for potential therapeutic applications. 61
31715352 2020
42
Evaluation of laboratory investigative methods of diagnosing clonal hematological disorders in a resource-poor setting. 61
31929204 2020
43
Evaluating and monitoring bone marrow hypoplasia in adults with aplastic anemia via high-resolution iliac magnetic resonance imaging in the current era. 61
31804346 2019
44
Multivariate logistic analysis of predictors of response to immunosuppressive therapy in children with aplastic anemia: a double-center study. 61
31793407 2019
45
miR-144-3p Suppresses Osteogenic Differentiation of BMSCs from Patients with Aplastic Anemia through Repression of TET2. 61
31945725 2019
46
[Effects of VEGF-Notch Signaling Pathway on Proliferation and Apoptosis of Bone Marrow MSC in Patients with Aplastic Anemia]. 61
31839061 2019
47
Long-term safety and efficacy of deferasirox in patients with myelodysplastic syndrome, aplastic anemia and other rare anemia in Taiwan. 61
30558522 2019
48
Hepatitis-associated Aplastic Anemia With Rapid Progression of Liver Fibrosis Due to Repeated Hepatitis. 61
31875639 2019
49
The Role of Human Parvovirus B19 in the Pediatric Patients with Pancytopenia? 61
31850715 2019
50
Wilms' tumor 1 mRNA expression: a good tool for differentiating between myelodysplastic syndrome and aplastic anemia in children? 61
31210595 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 14) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TERC NR_001566.1(TERC):n.72C>GSNV Pathogenic 7324 rs199422265 3:169482777-169482777 3:169764989-169764989
2 TERC NR_001566.1(TERC):n.110_113deldeletion Pathogenic 7325 rs199422270 3:169482736-169482739 3:169764948-169764951
3 TERC NR_001566.1(TERC):n.116C>TSNV Pathogenic 7326 rs199422272 3:169482733-169482733 3:169764945-169764945
4 TERC NR_001566.1(TERC):n.98G>ASNV Pathogenic 7327 rs199422268 3:169482751-169482751 3:169764963-169764963
5 TERC TERC, 325G-TSNV Pathogenic 7328
6 TERC TERC, 143G-ASNV Pathogenic 36952
7 TERC TERC, 212C-GSNV Pathogenic 36953
8 TERC NR_001566.1(TERC):n.407_408delinsAAindel Pathogenic 446379 rs1553915580 3:169482441-169482442 3:169764653-169764654
9 TERC NR_001566.1(TERC):n.122_125delGCGGshort repeat Pathogenic 446378 rs1553915612 3:169482724-169482727 3:169764936-169764939
10 TERC NR_001566.1(TERC):n.107G>TSNV Pathogenic 446377 rs1553915617 3:169482742-169482742 3:169764954-169764954
11 TERC NR_001566.1(TERC):n.69_74dupduplication Pathogenic 446376 rs1553915621 3:169482774-169482775 3:169764986-169764987
12 TERC NR_001566.1(TERC):n.204C>GSNV Pathogenic 7322 rs199422277 3:169482645-169482645 3:169764857-169764857
13 TERC NR_001566.1(TERC):n.36C>TSNV Uncertain significance 619284 rs1248582778 3:169482813-169482813 3:169765025-169765025
14 TERC NR_001566.1(TERC):n.58G>ASNV Benign 7323 rs113487931 3:169482791-169482791 3:169765003-169765003

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,...

3 CDC
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