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 57 29 6 72
Aplastic Anemia 57 72
Fibrosis, Pulmonary, and/or Bone Marrow Failure, Telomere-Related, Type 2 40
Pulmonary Fibrosis, Idiopathic, Susceptibility to 57
Pulmonary Fibrosis, Idiopathic 57
Pfbmft2 57

Characteristics:

OMIM:

57
Miscellaneous:
adult onset
incomplete penetrance
variable manifestations

Inheritance:
autosomal dominant


HPO:

32
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:

MedGen 42 C3553622
UMLS 72 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 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 Mechlorethamine and Radium Ra 223 dichloride 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

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 646)
# Related Disease Score Top Affiliating Genes
1 aplastic anemia 13.2
2 pulmonary fibrosis, idiopathic 13.0
3 retinopathy aplastic anemia neurological abnormalities 12.4
4 rare acquired aplastic anemia 12.4
5 rare constitutional aplastic anemia 12.4
6 congenital hypoplastic anemia 12.2
7 bone marrow failure syndrome 1 12.2
8 deficiency anemia 12.0
9 dyskeratosis congenita, autosomal dominant 6 12.0
10 idiopathic interstitial pneumonia 12.0
11 paroxysmal nocturnal hemoglobinuria 11.9
12 dyskeratosis congenita 11.7
13 dyskeratosis congenita, autosomal dominant 2 11.7
14 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 11.7
15 fanconi anemia, complementation group a 11.6
16 eosinophilic fasciitis 11.6
17 shwachman-diamond syndrome 1 11.6
18 revesz syndrome 11.6
19 sideroblastic anemia 11.6
20 amegakaryocytic thrombocytopenia, congenital 11.5
21 hoyeraal hreidarsson syndrome 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 hematopoietic stem cell transplantation 11.0
39 pulmonary fibrosis 11.0
40 acute graft versus host disease 11.0
41 hemoglobinuria 11.0
42 acute leukemia 10.8
43 leukemia 10.8
44 neutropenia 10.8
45 thrombocytopenia 10.8
46 granulocytopenia 10.8
47 chronic graft versus host disease 10.7
48 leukemia, acute myeloid 10.7
49 fibrosis of extraocular muscles, congenital, 1 10.7
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 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:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 cirrhosis 32 occasional (7.5%) HP:0001394
2 pulmonary fibrosis 32 HP:0002206
3 bone marrow hypocellularity 32 HP:0005528
4 aplastic anemia 32 HP:0001915
5 premature graying of hair 32 HP:0002216
6 leukemia 32 HP:0001909
7 myeloid leukemia 32 HP:0012324

Symptoms via clinical synopsis from OMIM:

57
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 277)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mechlorethamine Approved, Investigational Phase 4 51-75-2 4033
2
Radium Ra 223 dichloride Approved, Investigational Phase 4 444811-40-9
3
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
4
Pirfenidone Approved, Investigational Phase 4 53179-13-8 40632
5
Nintedanib Approved Phase 4 656247-17-5 56843413
6
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 23925 27284
7
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381
8
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
9
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
10
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
11
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
12
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 6433735 5283731
13 Nitrogen Mustard Compounds Phase 4
14 Antiparasitic Agents Phase 4
15 Cytochrome P-450 Enzyme Inhibitors Phase 4
16 Antiprotozoal Agents Phase 4
17 Anticoagulants Phase 4
18 14-alpha Demethylase Inhibitors Phase 4
19 Steroid Synthesis Inhibitors Phase 4
20 Hematinics Phase 4
21 Ferric Compounds Phase 4
22 Hormones Phase 4
23 Bone Density Conservation Agents Phase 4
24 Vitamins Phase 4
25 Calciferol Phase 4
26 Calcium, Dietary Phase 4
27 Hydroxycholecalciferols Phase 4
28 Vitamin D2 Phase 4
29 Ergocalciferols Phase 4
30 Analgesics Phase 4
31 Analgesics, Non-Narcotic Phase 4
32 Anti-Inflammatory Agents, Non-Steroidal Phase 4
33 Micronutrients Phase 4
34 Nutrients Phase 4
35 Chelating Agents Phase 4
36 Trace Elements Phase 4
37 Iron Chelating Agents Phase 4
38
Sirolimus Approved, Investigational Phase 3 53123-88-9 6436030 5284616 46835353
39
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
40
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
41
Pioglitazone Approved, Investigational Phase 3 111025-46-8 4829
42
Nandrolone phenpropionate Approved, Illicit, Investigational Phase 3 62-90-8 229455
43
Nandrolone decanoate Approved, Illicit Phase 3 360-70-3 9677
44
Sargramostim Approved, Investigational Phase 3 83869-56-1, 123774-72-1
45
Everolimus Approved Phase 3 159351-69-6 6442177 70789204
46
Iodine Approved, Investigational Phase 3 7553-56-2 807
47
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
48
Doxycycline Approved, Investigational, Vet_approved Phase 3 564-25-0 54671203
49
Thiotepa Approved, Investigational Phase 2, Phase 3 52-24-4 5453
50
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 498142 38904

Interventional clinical trials:

(show top 50) (show all 573)
# 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 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
5 Child With Severe Aplastic Anemia (SAA) Therapy: the Injection of Umbilical Cord Derived Mesenchymal Stem Cells. Unknown status NCT02218437 Phase 4 MSC+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 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
10 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
11 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
12 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
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 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
20 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
21 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
22 Pragmatic Management of Progressive Disease in Idiopathic Pulmonary Fibrosis: a Randomized Trial Not yet recruiting NCT03939520 Phase 4 pirfenidone and nintedanib;pirfenidone or nintedanib
23 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
24 Employment of 68Ga-DOTA-NOC in Patients With Idiopathic Pulmonary Fibrosis Terminated NCT01321996 Phase 4
25 Treatment of Pulmonary Arterial Hypertension Secondary to Idiopathic Pulmonary Hypertension With Bosentan: A Single Center Pilot Study Withdrawn NCT00625469 Phase 4 bosentan
26 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
27 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
28 Minocycline Treatment in Patients With Idiopathic Pulmonary Fibrosis Being Treated With Standard of Care Therapy- a Pilot Study Unknown status NCT00203697 Phase 3 minocycline
29 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
30 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
31 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
32 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
33 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
34 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
35 Open-Label Extension Study in Patients With Idiopathic Pulmonary Fibrosis Who Completed Protocol AC-052-321 (NCT00391443) Completed NCT00631475 Phase 3 Bosentan
36 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
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 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
39 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
40 Multi-Center Trial of Anti-Thymocyte Globulin in Treatment of Aplastic Anemia and Other Hematologic Disorders Completed NCT00000597 Phase 3 antilymphocyte serum;nandrolone
41 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
42 An Open-Label Extension Study of the Long Term Safety of Pirfenidone in Patients With Idiopathic Pulmonary Fibrosis (IPF) Completed NCT00662038 Phase 3 pirfenidone
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 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
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 NCT01335464 Phase 3 placebo;BIBF 1120
46 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
47 A Randomized, Double-Blind, Placebo Controlled, Phase 3, Three-Arm Study of the Safety and Efficacy of Pirfenidone in Patients With Idiopathic Pulmonary Fibrosis Completed NCT00287716 Phase 3 Pirfenidone;Placebo
48 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
49 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)
50 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

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:

41
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 7726)
# Title Authors PMID Year
1
Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase. 38 8 71
21436073 2011
2
Telomerase mutations in families with idiopathic pulmonary fibrosis. 38 8 71
17392301 2007
3
Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia. 8 71
19760749 2009
4
Short telomeres are a risk factor for idiopathic pulmonary fibrosis. 8 71
18753630 2008
5
Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA. 8 71
14630445 2003
6
Association between aplastic anaemia and mutations in telomerase RNA. 8 71
12090986 2002
7
Progressive telomere shortening in aplastic anemia. 38 8
9572992 1998
8
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. 8
11574891 2001
9
Clinical outcomes of immunosuppressive therapy for severe aplastic anemia patients with absolute neutrophil count of zero. 38
31221029 2019
10
Abnormalities of quantities and functions of CD56bright natural killer cells in non-severe aplastic Anemia. 38
30907293 2019
11
Long-term safety and efficacy of deferasirox in patients with myelodysplastic syndrome, aplastic anemia and other rare anemia in Taiwan. 38
30558522 2019
12
GDF11 is increased in patients with aplastic anemia. 38
30727851 2019
13
Wilms' tumor 1 mRNA expression: a good tool for differentiating between myelodysplastic syndrome and aplastic anemia in children? 38
31210595 2019
14
Pathogenesis of aplastic anemia. 38
31315542 2019
15
Aplastic anemia associated with Crohn's disease: a tertiary center retrospective study. 38
31256218 2019
16
Predicting response to porcine antilymphocyte globulin plus cyclosporine A in children with acquired severe aplastic anemia. 38
31112993 2019
17
Exosomal sphingosine 1-phosphate secreted by mesenchymal stem cells regulated Treg/Th17 balance in aplastic anemia. 38
30889317 2019
18
Healthcare costs and resource utilization in patients with severe aplastic anemia in the US. 38
31296074 2019
19
Immunosuppressive therapy versus haploidentical transplantation in adults with acquired severe aplastic anemia. 38
30670825 2019
20
Eltrombopag in Immune Thrombocytopenia, Aplastic Anemia, and Myelodysplastic Syndrome: From Megakaryopoiesis to Immunomodulation. 38
31292909 2019
21
Effect of Stem Cell Source and Dose on Allogeneic Hematopoietic Stem Cell Transplantation in Adult Patients with Idiopathic Aplastic Anemia: Data from the Korean Aplastic Anemia Trials. 38
31390612 2019
22
Eltrombopag combined with cyclosporine may have an effect on very severe aplastic anemia. 38
30891613 2019
23
Rapamycin ameliorates immune-mediated aplastic anemia by inhibiting the proliferation and metabolism of T cells. 38
31434610 2019
24
Altered expression of leptin and leptin receptor in the development of immune-mediated aplastic anemia in mice. 38
31316601 2019
25
Hematologic recovery induced by eltrombopag in Japanese patients with aplastic anemia refractory or intolerant to immunosuppressive therapy. 38
31183813 2019
26
Reactivation and dynamics of cytomegalovirus and Epstein-Barr virus after rabbit antithymocyte globulin and cyclosporine for aplastic anemia. 38
31381187 2019
27
[Efficacy of Low Dose Combined Chemotherapy for Patients with Relapsed and Refractory Aplastic Anemia-Paroxysmal Nocturnal Hemoglobinuria Syndrome]. 38
31418382 2019
28
The impact of low dose busulfan on gonodal function after allogeneic hematopoietic stem cell transplantation for aplastic anemia. 38
31409867 2019
29
Outcome of Fludarabine Based Conditioning in High Risk Aplastic Anemia Patients Undergoing Matched Related Donor Transplantation: A Single Center Study from Pakistan. 38
31394274 2019
30
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. 38
30926448 2019
31
Haploidentical hematopoietic cell transplantation for severe acquired aplastic anemia: a case-control study of post-transplant cyclophosphamide included regimen vs. anti-thymocyte globulin & colony-stimulating factor-based regimen. 38
31428917 2019
32
Aplastic Anemia Preconditioned with Fludarabine, Cyclophosphamide, and Anti-Thymocyte Globulin. 38
31395850 2019
33
T-cell expression of Bruton's tyrosine kinase promotes autoreactive T-cell activation and exacerbates aplastic anemia. 38
31431692 2019
34
PPAR Gamma-Regulated MicroRNA 199a-5p Underlies Bone Marrow Adiposity in Aplastic Anemia. 38
31400610 2019
35
Nationwide survey in France on the use of romiplostim in patients with refractory severe aplastic anemia. 38
30670823 2019
36
[Pay attention to research of hematopoietic stem cells of aplastic anemia]. 38
31315370 2019
37
[Development and application of the immune-mediated aplastic anemia mouse model]. 38
31315371 2019
38
[Immune abnormality: an important factor in the pathogenesis of aplastic anemia]. 38
31315372 2019
39
Immunosuppressive therapy (IST) in adult patients with acquired aplastic anemia (AA): A single-center experience over the past 15 years. 38
30977158 2019
40
Allogeneic Bone Marrow Transplants for Pediatric Severe Aplastic Anemia: Real-world Data comparing Matched Related and Unrelated Donors in a Developing Country. Retrospective study on behalf of the Pediatric Hematopoietic Stem Cell Transplant Working Group of the Brazilian Bone Marrow Transplantation Society (SBTMO) and the Brazil-Seattle Consortium (Gedeco). 38
31297928 2019
41
Multifaceted roles of thrombopoietin in hematopoietic stem cell regulation. 38
31292976 2019
42
Impact of ABO blood group incompatibility on the outcomes of allogeneic hematopoietic stem cell transplantation. 38
31311753 2019
43
Hematopoietic Cell Transplantation for Paroxysmal Nocturnal Hemoglobinuria in the Age of Eculizumab. 38
30711779 2019
44
Management of aplastic anemia after failure of frontline immunosuppression. 38
31311355 2019
45
Haploidentical donor transplants for severe aplastic anemia. 38
31202429 2019
46
Clinical applicability of proposed algorithm for identifying individuals at risk for hereditary hematologic malignancies. 38
31274040 2019
47
[Recognition of aplastic anemia]. 38
31315369 2019
48
Risk Factors and Predictive Scoring System For Post-Transplant Lymphoproliferative Disorder after Hematopoietic Stem Cell Transplantation. 38
30794929 2019
49
The diagnostic utility of targeted gene panel sequencing in discriminating etiologies of cytopenia. 38
31350794 2019
50
Clinical Profile and Short Term Outcome of Children with Neutropenia. 38
31280411 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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TERC NR_001566.1(TERC): n.72C> G single nucleotide variant Pathogenic rs199422265 3:169482777-169482777 3:169764989-169764989
2 TERC NR_001566.1(TERC): n.110_113del deletion Pathogenic rs199422270 3:169482736-169482739 3:169764948-169764951
3 TERC NR_001566.1(TERC): n.116C> T single nucleotide variant Pathogenic rs199422272 3:169482733-169482733 3:169764945-169764945
4 TERC NR_001566.1(TERC): n.98G> A single nucleotide variant Pathogenic rs199422268 3:169482751-169482751 3:169764963-169764963
5 TERC TERC, 325G-T single nucleotide variant Pathogenic
6 TERC TERC, 143G-A single nucleotide variant Pathogenic
7 TERC TERC, 212C-G single nucleotide variant Pathogenic
8 TERC NR_001566.1(TERC): n.407_408delinsAA indel Pathogenic rs1553915580 3:169482441-169482442 3:169764653-169764654
9 TERC NR_001566.1(TERC): n.122_125delGCGG short repeat Pathogenic rs1553915612 3:169482724-169482727 3:169764936-169764939
10 TERC NR_001566.1(TERC): n.107G> T single nucleotide variant Pathogenic rs1553915617 3:169482742-169482742 3:169764954-169764954
11 TERC NR_001566.1(TERC): n.69_74dupAGGCGC duplication Pathogenic rs1553915621 3:169482775-169482780 3:169764987-169764992
12 TERC NR_001566.1(TERC): n.204C> G single nucleotide variant Pathogenic rs199422277 3:169482645-169482645 3:169764857-169764857
13 TERC NR_001566.1(TERC): n.36C> T single nucleotide variant Uncertain significance rs1248582778 3:169482813-169482813 3:169765025-169765025
14 TERC NR_001566.1(TERC): n.58G> A single nucleotide variant Benign 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....