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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
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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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 29 6 70
Aplastic Anemia 57 70
Fibrosis, Pulmonary, and/or Bone Marrow Failure, Telomere-Related, Type 2 39
Pulmonary Fibrosis, Idiopathic, Susceptibility to 57
Pulmonary Fibrosis, Idiopathic 57
Pfbmft2 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

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 41 C3553622
UMLS 70 C0002874 C3553622
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Summaries for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

About this section
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 Mechlorethamine and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and myeloid, and related phenotypes are cirrhosis and pulmonary fibrosis

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

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 650)
# Related Disease Score Top Affiliating Genes
1 aplastic anemia 32.5 TERC LOC110806306
2 dyskeratosis congenita 31.3 TERC LOC110806306
3 dyskeratosis congenita autosomal dominant 29.5 TERC LOC110806306
4 dyskeratosis congenita, autosomal dominant 1 29.2 TERC LOC110806306
5 pulmonary fibrosis, idiopathic 11.8
6 deficiency anemia 11.7
7 bone marrow failure syndrome 1 11.5
8 dyskeratosis congenita, autosomal dominant 6 11.4
9 paroxysmal nocturnal hemoglobinuria 11.4
10 congenital aplastic anemia 11.2
11 dyskeratosis congenita, autosomal dominant 2 11.2
12 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 11.2
13 dyskeratosis congenita, autosomal recessive 5 11.2
14 hoyeraal hreidarsson syndrome 11.2
15 diamond-blackfan anemia 11.2
16 wt limb-blood syndrome 11.2
17 dyskeratosis congenita, autosomal dominant 3 11.2
18 retinopathy aplastic anemia neurological abnormalities 11.2
19 fanconi anemia, complementation group a 11.2
20 rare acquired aplastic anemia 11.1
21 rare constitutional aplastic anemia 11.1
22 pancytopenia 11.1
23 graft-versus-host disease 11.1
24 eosinophilic fasciitis 11.1
25 shwachman-diamond syndrome 1 11.1
26 revesz syndrome 11.1
27 amegakaryocytic thrombocytopenia, congenital 11.1
28 myelodysplastic syndrome 11.1
29 sideroblastic anemia 11.1
30 immunodeficiency 21 11.0
31 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 11.0
32 dyskeratosis congenita, autosomal recessive 1 11.0
33 lymphoproliferative syndrome, x-linked, 1 11.0
34 dyskeratosis congenita, autosomal recessive 2 11.0
35 dyskeratosis congenita, autosomal recessive 3 11.0
36 dyskeratosis congenita, autosomal recessive 6 11.0
37 pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 11.0
38 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 11.0
39 myelophthisic anemia 11.0
40 littoral cell angioma of the spleen 11.0
41 acute graft versus host disease 11.0
42 hemoglobinuria 11.0
43 acute leukemia 10.9
44 granulocytopenia 10.8
45 neutropenia 10.8
46 chronic graft versus host disease 10.8
47 leukemia, acute myeloid 10.7
48 thrombocytopenia 10.7
49 viral hepatitis 10.7
50 leukemia 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:

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 premature graying of hair 31 HP:0002216
4 leukemia 31 HP:0001909
5 bone marrow hypocellularity 31 HP:0005528
6 myeloid leukemia 31 HP:0012324
7 aplastic anemia 31 HP:0001915

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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 114)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mechlorethamine Approved, Investigational Phase 4 51-75-2 4033
2
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
3
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
4
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
5
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
6
tannic acid Approved Phase 4 1401-55-4
7
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
8
Iron Approved Phase 4 7439-89-6 23925 29936
9
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381 214348
10 Nitrogen Mustard Compounds Phase 4
11 Hormone Antagonists Phase 4
12 Hormones Phase 4
13 Antiparasitic Agents Phase 4
14 Antiprotozoal Agents Phase 4
15 Cytochrome P-450 Enzyme Inhibitors Phase 4
16 Immunosuppressive Agents Phase 4
17 Cyclosporins Phase 4
18 Antirheumatic Agents Phase 4
19 Anti-Infective Agents Phase 4
20 Immunologic Factors Phase 4
21 Dermatologic Agents Phase 4
22 Antilymphocyte Serum Phase 4
23 Calcineurin Inhibitors Phase 4
24 Antifungal Agents Phase 4
25 Chelating Agents Phase 4
26 Iron Chelating Agents Phase 4
27
Vidarabine Approved, Investigational Phase 2, Phase 3 24356-66-9 21704 32326
28
Thiotepa Approved, Investigational Phase 2, Phase 3 52-24-4 5453
29
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 498142 38904
30
Nandrolone phenpropionate Approved, Illicit, Investigational Phase 3 62-90-8 229455
31
Nandrolone decanoate Approved, Illicit Phase 3 360-70-3 9677
32
Nandrolone Experimental, Investigational Phase 3 434-22-0 9904
33 Anabolic Agents Phase 3
34 Antibodies Phase 3
35 Immunoglobulins Phase 3
36 Immunoglobulins, Intravenous Phase 3
37 gamma-Globulins Phase 3
38 Rho(D) Immune Globulin Phase 3
39 Immunoglobulin G Phase 3
40
Levamisole Approved, Investigational, Vet_approved, Withdrawn Phase 2 14769-73-4 26879
41
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
42
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
43
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
44
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
45
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
46
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
47
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
48
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
49
Lenograstim Approved, Investigational Phase 2 135968-09-1
50
Acetaminophen Approved Phase 2 103-90-2 1983

Interventional clinical trials:

(show top 50) (show all 172)
# 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 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
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 A Single Arm, Multicenter, Open Label Study of Desferasirox in Chinese Patients With Iron Overload and Aplastic Anemia Completed NCT01546415 Phase 4 Desferasirox
6 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
7 The Efficacy of Immunosuppressive Therapy Combined With Cord Blood Transfusion in Treatment of Severe Aplastic Anemia Recruiting NCT02745717 Phase 4 Thymoglobulin;Cyclosporine Oral Product
8 Randomized Clinical Trial of the Use of Eltrombopag in Children With Idiopathic Aplastic Anemia Recruiting NCT03243656 Phase 4 Eltrombopag
9 Treatment With Thrombopoietin Mimetic Plus Immunosuppressive Therapy in Egyptian Patients With Aplastic Anaemia Recruiting NCT03896971 Phase 4 Combination of thrombopoietin mimetic and cyclosporin A
10 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
11 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
12 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
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 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
15 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
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 Multi-Center Trial of Anti-Thymocyte Globulin in Treatment of Aplastic Anemia and Other Hematologic Disorders Completed NCT00000597 Phase 3 antilymphocyte serum;nandrolone
18 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
19 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)
20 A Phase 2/3 Study of AMG531 Combined With Ciclosporin A in Patients With Aplastic Anemia Previously Untreated With Immunosuppressive Therapy Recruiting NCT04095936 Phase 2, Phase 3 Romiplostim
21 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)
22 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
23 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 Recruiting NCT04350606 Phase 3
24 A Phase 2/3 Study of AMG531 in Patients With Aplastic Anemia PreviouslyUntreated With Immunosuppressive Therapy Active, not recruiting NCT03957694 Phase 2, Phase 3 Romiplostim
25 Phase 2/3 Study of Romiplostim(AMG531) in Subjects With Aplastic Anemia Refractory to or Ineligible for Immunosuppressive Therapy Active, not recruiting NCT02773290 Phase 2, Phase 3
26 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
27 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
28 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
29 Haploidentical Allogeneic Hematopoietic Stem Cell Transplantation in Children and Adolescents Unknown status NCT02014506 Phase 1, Phase 2 Fludarabine;Cyclophosphamide
30 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
31 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
32 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
33 Phaseâ…¡Trial 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
34 Efficacy and Safety of Thrombopoietin In Patients With Severe and Very Severe Aplastic Anemia Unknown status NCT02857530 Phase 2 rhTPO;placebo
35 Phaseâ… /â…¡Trial 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
36 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
37 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
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 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
40 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)
41 A Single-Arm Phase 2 Study With Optimized Standard Protocol for Severe Aplastic Anemia Unknown status NCT02203396 Phase 2 rabbit ATG, Cyclosporine, Levamisole
42 Prospective Phase II Study of Rabbit Antithymocyte Globulin (ATG, Thymoglobuline®, Genzyme) With Ciclosporin for Patients With Acquired Aplastic Anaemia and Comparison With Matched Historical Patients Treated With Horse ATG and Ciclosporin Unknown status NCT00471848 Phase 2 rabbit antithymocyte globulin
43 Phase II Study of Umbilical Cord/Placenta-Derived Mesenchymal Stem Cells to Treat SAA Unknown status NCT01182662 Phase 2
44 Male Hormones for Telomere Related Diseases Unknown status NCT02055456 Phase 1, Phase 2 Nandrolone Decanoate
45 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2 filgrastim
46 High Dose Cyclophosphamide for the Treatment of Severe Aplastic Anemia and Paroxysmal Nocturnal Hemoglobinuria Completed NCT00004464 Phase 2 cyclophosphamide;filgrastim
47 Phase II Study of Bone Marrow Transplantation Using Related Donors in Patients With Aplastic Anemia Completed NCT00004323 Phase 2 anti-thymocyte globulin;cyclophosphamide;cyclosporine;mesna;methotrexate;methylprednisolone
48 A Phase II Study of Reduced Intensity Double Umbilical Cord Blood Transplantation Using Fludarabine, Melphalan, and Low Dose Total Body Radiation Completed NCT01408563 Phase 2 Fludarabine;Melphalan
49 HLA-HAPLOIDENTICAL FAMILIAL DONOR HEMATOPOIETIC CELL TRANSPLANTATION AFTER REDUCED INTENSITY CONDITIONING OF BUSULFAN, FLUDARABINE, AND ANTI-THYMOCYTE GLOBULIN FOR PATIENTS WITH BONE MARROW FAILURE SYNDROME - A PHASE 2 STUDY Completed NCT00731328 Phase 2
50 A Prospective Phase II Study to Evaluate Cord Blood Transplantation in Inherited or Acquired Severe Aplastic Anemia Refractory or in Relapse After Immunosuppressive Therapy Completed NCT01343953 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 29 TERC
Sources

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

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

40
Bone Marrow, Bone, Myeloid, T Cells, Kidney, Liver, Fetal Liver
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 8179)
# Title Authors PMID Year
1
Telomerase mutations in families with idiopathic pulmonary fibrosis. 6 57 61
17392301 2007
2
Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia. 6 57
19760749 2009
3
Short telomeres are a risk factor for idiopathic pulmonary fibrosis. 57 6
18753630 2008
4
Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA. 57 6
14630445 2003
5
Association between aplastic anaemia and mutations in telomerase RNA. 57 6
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. 6 61
24763404 2014
7
Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase. 61 57
21436073 2011
8
Progressive telomere shortening in aplastic anemia. 57 61
9572992 1998
9
Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. 6
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. 6
31265491 2016
11
Triallelic and epigenetic-like inheritance in human disorders of telomerase. 6
26024875 2015
12
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. 57
11574891 2001
13
Decreased bone marrow regulatory innate lymphoid cells show a distinctive miRNA profiling in aplastic anemia. 61
33375909 2021
14
High-Dose Aluminum Exposure Further Alerts Immune Phenotype in Aplastic Anemia Patients. 61
32761514 2021
15
Daratumumab for pure red cell aplasia post ABO incompatible allogeneic hematopoietic stem cell transplant for aplastic anemia. 61
32653327 2021
16
Effectiveness and safety of tacrolimus with or without eltrombopag, as a part of immunosuppressive treatment of aplastic anemia in adults: a retrospective case series. 61
33420879 2021
17
Identification of metabolic changes leading to cancer susceptibility in Fanconi anemia cells. 61
33316348 2021
18
Efficacy and safety of eltrombopag in the first-line therapy of severe aplastic anemia in children. 61
33798022 2021
19
The Chromatin Remodeling Complex CHD1 Regulates the Primitive State of Mesenchymal Stromal Cells to Control Their Stem Cell Supporting Activity. 61
33593142 2021
20
[Diagnosis and Therapy of aplastic anemia - update 2021]. 61
33780990 2021
21
Unexpected pure red series aplastic anemia secondary to pembrolizumab treatment: a case report and literature review. 61
33625098 2021
22
Hypermethylation-mediated downregulation of long non-coding RNA MEG3 inhibits osteogenic differentiation of bone marrow mesenchymal stem cells and promotes pediatric aplastic anemia. 61
33529912 2021
23
Up-front Treatment With Romiplostim in Children With Acquired Bone Marrow Failure: A Single Institutional Pediatric Case Series. 61
32341259 2021
24
The role of interferon-gamma and its signaling pathway in pediatric hematological disorders. 61
33484058 2021
25
Upregulated expression of leukocyte immunoglobulin-like receptor A3 in patients with severe aplastic anemia. 61
33732319 2021
26
Primary thymus tumors: retrospective case analysis at a reference center in Latin America, 2011-2019. 61
33726691 2021
27
Autoimmune Complications in Hematologic Neoplasms. 61
33810369 2021
28
Misdiagnosed thrombocytopenia in children and adolescents: analysis of the Pediatric and Adult Registry on Chronic ITP. 61
33710335 2021
29
High-dose romiplostim accelerates hematologic recovery in patients with aplastic anemia refractory to eltrombopag. 61
32616921 2021
30
Single-cell transcriptomics dissects hematopoietic cell destruction and T cell engagement in aplastic anemia. 61
33763704 2021
31
Very severe aplastic anemia in an 80-year-old man. 61
33768838 2021
32
Efficacy and safety of immunosuppressive therapy with or without eltrombopag in pediatric patients with acquired aplastic anemia: A Chinese retrospective study. 61
33724146 2021
33
Clinical and prognostic significance of small paroxysmal nocturnal hemoglobinuria clones in myelodysplastic syndrome and aplastic anemia. 61
33664463 2021
34
Expression and function of SLAMF6 in CD8+ T lymphocytes of patients with severe aplastic anemia. 61
33774556 2021
35
Exosomes derived from mesenchymal stem cells regulate Treg/Th17 balance in aplastic anemia by transferring miR-23a-3p. 61
33779886 2021
36
Fatal temozolomide induced aplastic anemia in a female with Glioblastoma multiforme : A case report and literature review. 61
33768906 2021
37
CCR5 maintains macrophages in the bone marrow and drives hematopoietic failure in a mouse model of severe aplastic anemia. 61
33744909 2021
38
Relationship between immune status after ATG treatment and PNH clone evolution in patients with severe aplastic anemia. 61
33249661 2021
39
Somatic mutations in lymphocytes in patients with immune-mediated aplastic anemia. 61
33785863 2021
40
Stem Cell Transplantation for Diamond-Blackfan Anemia. A Retrospective Study on Behalf of the Severe Aplastic Anemia Working Party of the European Blood and Marrow Transplantation Group (EBMT). 61
33781541 2021
41
HLA class I allele-lacking leukocytes predict rare clonal evolution to MDS/AML in patients with acquired aplastic anemia. 61
33754630 2021
42
Recent insights into the role of the microbiome in malignant and benign hematologic diseases. 61
33667659 2021
43
Living-Donor Lung Transplantation for Dyskeratosis Congenita. 61
33753055 2021
44
Sequential Complications of Hypercalcemia, Necrotizing Granulomatous Vasculitis, and Aplastic Anemia Occurring in One Patient with Angioimmunoblastic T-cell Lymphoma. 61
33097193 2021
45
Successful Salvage Therapy by Second Haploidentical Allogeneic Hematopoietic Stem Cell Transplantation in a Severe Aplastic Anemia Patient Presenting Donor-Specific Anti-HLA Antibodies After Graft Failure From Matched Sibling Donor HSCT: A Case Report and Review. 61
33752903 2021
46
Selective T-cell depletion targeting CD45RA as a novel approach for HLA-mismatched hematopoietic stem cell transplantation in pediatric nonmalignant hematological diseases. 61
33772729 2021
47
Diversity, localization and (patho)physiology of mature lymphocyte populations in the bone marrow. 61
33684935 2021
48
A Preliminary Report of Gonadal-Sparing TBI Using a VMAT Technique. 61
32795616 2021
49
When Should We Think of Myelodysplasia or Bone Marrow Failure in a Thrombocytopenic Patient? A Practical Approach to Diagnosis. 61
33801484 2021
50
Eltrombopag for the treatment of refractory thrombocytopenia associated with connective tissue disease. 61
33750817 2021
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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:

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TERC TERC, 325G-T SNV Pathogenic 7328 GRCh37:
GRCh38:
2 TERC TERC, 143G-A SNV Pathogenic 36952 GRCh37:
GRCh38:
3 TERC TERC, 212C-G SNV Pathogenic 36953 GRCh37:
GRCh38:
4 TERC NR_001566.1(TERC):n.69_74dup Duplication Pathogenic 446376 rs1553915621 GRCh37: 3:169482774-169482775
GRCh38: 3:169764986-169764987
5 TERC NR_001566.1(TERC):n.107G>T SNV Pathogenic 446377 rs1553915617 GRCh37: 3:169482742-169482742
GRCh38: 3:169764954-169764954
6 TERC NR_001566.1(TERC):n.122_125delGCGG Microsatellite Pathogenic 446378 rs1553915612 GRCh37: 3:169482724-169482727
GRCh38: 3:169764936-169764939
7 TERC NR_001566.1(TERC):n.407_408delinsAA Indel Pathogenic 446379 rs1553915580 GRCh37: 3:169482441-169482442
GRCh38: 3:169764653-169764654
8 TERC NR_001566.1(TERC):n.204C>G SNV Pathogenic 7322 rs199422277 GRCh37: 3:169482645-169482645
GRCh38: 3:169764857-169764857
9 TERC NR_001566.1(TERC):n.72C>G SNV Pathogenic 7324 rs199422265 GRCh37: 3:169482777-169482777
GRCh38: 3:169764989-169764989
10 TERC NR_001566.1(TERC):n.110_113del Deletion Pathogenic 7325 rs199422270 GRCh37: 3:169482736-169482739
GRCh38: 3:169764948-169764951
11 TERC NR_001566.1(TERC):n.98G>A SNV Pathogenic 7327 rs199422268 GRCh37: 3:169482751-169482751
GRCh38: 3:169764963-169764963
12 LOC110806306 , TERC NR_001566.1(TERC):n.58G>A SNV Pathogenic 7323 rs113487931 GRCh37: 3:169482791-169482791
GRCh38: 3:169765003-169765003
13 TERC NR_001566.1(TERC):n.116C>T SNV Pathogenic 7326 rs199422272 GRCh37: 3:169482733-169482733
GRCh38: 3:169764945-169764945
14 TERC NR_001566.1(TERC):n.95G>C SNV Likely pathogenic 983511 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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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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