MCID: PLM175
MIFTS: 38

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

Categories: Genetic diseases, Bone 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 73
Aplastic Anemia 57 73
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
Inheritance:
autosomal dominant

Miscellaneous:
adult onset
incomplete penetrance
variable manifestations


HPO:

32
pulmonary fibrosis and/or bone marrow failure, telomere-related, 2:
Onset and clinical course adult onset incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



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

MalaCards based summary : Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2, also known as aplastic anemia, is related to aplastic anemia and pulmonary fibrosis, idiopathic, and has symptoms including angina pectoris, chest pain and edema. An important gene associated with Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 is TERC (Telomerase RNA Component). Affiliated tissues include bone, bone marrow and t cells, and related phenotypes are cirrhosis and leukemia

Description from OMIM: 614743

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

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 229)
# Related Disease Score Top Affiliating Genes
1 aplastic anemia 12.8
2 pulmonary fibrosis, idiopathic 12.6
3 retinopathy aplastic anemia neurological abnormalities 12.1
4 bone marrow failure syndrome 1 11.8
5 congenital hypoplastic anemia 11.8
6 dyskeratosis congenita, autosomal dominant 6 11.6
7 paroxysmal nocturnal hemoglobinuria 11.5
8 dyskeratosis congenita 11.3
9 eosinophilic fasciitis 11.3
10 revesz syndrome 11.3
11 amegakaryocytic thrombocytopenia, congenital 11.2
12 immunodeficiency 21 11.2
13 idiopathic interstitial pneumonia 11.2
14 dyskeratosis congenita, autosomal dominant 2 11.1
15 dyskeratosis congenita, autosomal dominant 3 11.1
16 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 11.1
17 dyskeratosis congenita, autosomal recessive 5 11.1
18 dyskeratosis congenita, autosomal recessive 1 10.9
19 lymphoproliferative syndrome, x-linked, 1 10.9
20 dyskeratosis congenita, autosomal recessive 2 10.9
21 dyskeratosis congenita, autosomal recessive 3 10.9
22 dyskeratosis congenita, autosomal recessive 6 10.9
23 pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 10.9
24 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 10.9
25 deficiency anemia 10.9
26 myelophthisic anemia 10.9
27 sideroblastic anemia 10.9
28 littoral cell angioma of the spleen 10.9
29 myelodysplastic syndrome 10.6
30 hemoglobinuria 10.5
31 hematopoietic stem cell transplantation 10.5
32 hepatitis 10.5
33 leukemia 10.4
34 pulmonary fibrosis 10.4
35 myeloid leukemia 10.2
36 refractory anemia 10.2
37 leukemia, acute myeloid 10.2
38 fanconi anemia, complementation group a 10.2
39 hemosiderosis 10.2
40 graft-versus-host disease 10.1
41 thrombocytopenia 10.1
42 pure red-cell aplasia 10.1
43 purpura 10.1
44 fasciitis 10.1
45 autoimmune lymphoproliferative syndrome, type v 10.1
46 acute liver failure 10.1
47 thrombosis 10.1
48 pancytopenia 10.1
49 thymoma 10.1
50 aging 10.0

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


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

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



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

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

Symptoms via clinical synopsis from OMIM:

57
Respiratory Lung:
pulmonary fibrosis

Skin Nails Hair Hair:
premature graying of the hair

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

Hematology:
pancytopenia
aplastic anemia
bone marrow failure

Abdomen Liver:
cirrhosis (in some)

Laboratory Abnormalities:
decreased telomere length in lymphocytes


Clinical features from OMIM:

614743

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

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

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


angina pectoris, chest pain, edema

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

Search Clinical Trials , 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, Myeloid, Liver, Kidney, Lung

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 1290)
# Title Authors Year
1
Successful reduced-intensity conditioning hematopoietic stem cell transplantation for paroxysmal nocturnal hemoglobinuria with aplastic anemia in two children. ( 29722478 )
2018
2
Acquired Aplastic Anemia: What Have We Learned and What Is in the Horizon? ( 29803285 )
2018
3
Celiac disease associated with aplastic anemia in a 6-year-old girl: a case report and review of the literature. ( 29361973 )
2018
4
Fanconi Anemia germline variants as susceptibility factors in aplastic anemia, MDS and AML. ( 29416752 )
2018
5
Unrelated cord blood transplantation in patients with acquired refractory aplastic anemia: a nationwide phase II study. ( 29760162 )
2018
6
Comparison of the effects of deferasirox, deferoxamine, and combination of deferasirox and deferoxamine on an aplastic anemia mouse model complicated with iron overload. ( 29760547 )
2018
7
Updated Guidelines for the Treatment of Acquired Aplastic Anemia in Children. ( 29961134 )
2018
8
Horse versus Rabbit Antithymocyte Globulin in Acquired Aplastic Anemia. ( 29897839 )
2018
9
Effects and Predictive Factors of Immunosuppressive Therapy Combined with Umbilical Cord Blood Infusion in Patients with Severe Aplastic Anemia. ( 29869462 )
2018
10
Increased apoptosis and peripheral blood mononuclear cell suppression of bone marrow mesenchymal stem cells in severe aplastic anemia. ( 29870142 )
2018
11
Why is it necessary to examine retina when the patient suffers from aplastic anemia? ( 29749240 )
2018
12
Hepatitis A, cardiomyopathy, aplastic anemia, and acute liver failure: A devastating scenario. ( 29359844 )
2018
13
Nationwide survey on the use of horse antithymocyte globulins (ATGAM) in patients with acquired aplastic anemia: A report on behalf of the French Reference Center for Aplastic Anemia. ( 29377260 )
2018
14
Anorexia nervosa-associated pancytopenia mimicking idiopathic aplastic anemia: a case report. ( 29801443 )
2018
15
Circulating S100A8 and S100A9 protein levels in plasma of patients with acquired aplastic anemia and myelodysplastic syndromes. ( 29958797 )
2018
16
Upfront eltrombopag monotherapy induces stable hematologic remission in pediatric patients with nonsevere idiopathic aplastic anemia. ( 29932285 )
2018
17
Skin Induration in a Patient with Aplastic Anemia. ( 29381836 )
2018
18
Idiopathic severe aplastic anemia with a delayed response to immunosuppressive therapy: a case report. ( 29881557 )
2018
19
Acquired amegakaryocytic thrombocytopenia and red cell aplasia in a patient with thymoma progressing to aplastic anemia successfully treated with allogenic stem cell transplantation. ( 29409729 )
2018
20
Autologous Bone Marrow Transplantation for Polymyositis Combined with Myasthenia Gravis and Aplastic Anemia: A Case Report. ( 29805377 )
2018
21
Efficacy and safety of combined immunosuppressive therapy plus umbilical cord blood infusion in severe aplastic anemia patients: A cohort study. ( 29434791 )
2018
22
Aplastic anemia secondary to propylthiouracil: A rare and life-threatening adverse effect. ( 29357782 )
2018
23
Concurrent treatment of aplastic anemia/Paroxysmal Nocturnal Hemoglobinuria syndrome with immunosuppressive therapy and eculizumab: a UK experience. ( 29545341 )
2018
24
Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres. ( 29980875 )
2018
25
Optimal donor for severe aplastic anemia patient requiring allogeneic hematopoietic stem cell transplantation: A large-sample study from China. ( 29410500 )
2018
26
Sex-specific analysis post-liver transplantation in hemochromatosis with aplastic anemia and hepatocellular carcinoma. ( 29404507 )
2018
27
Epstein Barr Virus Infection Affects Function of Cytotoxic T Lymphocytes in Patients with Severe Aplastic Anemia. ( 29862282 )
2018
28
Acute hepatitis as a prequel to very severe aplastic anemia. ( 29316578 )
2018
29
Patient features and survival of pediatric aplastic anemia in the USA: a large institution experience. ( 29901745 )
2018
30
Allogeneic Matched Related Donor Bone Marrow Transplantation for Pediatric Patients With Severe Aplastic Anemia Using "Low-dose" Cyclophosphamide, ATG Plus Fludarabine. ( 29432302 )
2018
31
Danazol increases T regulatory cells in patients with aplastic anemia. ( 29415633 )
2018
32
A composite mouse model of aplastic anemia complicated with iron overload. ( 29434729 )
2018
33
Recurrent ovarian hemorrhage in a patient with aplastic anemia: A case report. ( 29979439 )
2018
34
Hematopoietic stem cell loss and hematopoietic failure in severe aplastic anemia is driven by macrophages and aberrant podoplanin expression. ( 29773597 )
2018
35
iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors. ( 29374141 )
2018
36
Rabbit antithymocyte globulin dose does not affect response or survival as first-line therapy for acquired aplastic anemia: a multicenter retrospective study. ( 29978284 )
2018
37
Unmanipulated Haploidentical Hematopoietic Stem Cell Transplantation Achieved Outcomes Comparable With Matched Unrelated Donor Transplantation in Young Acquired Severe Aplastic Anemia. ( 29772350 )
2018
38
Influence of genetic polymorphisms of IL23R, STAT3, IL12B, and STAT4 on the risk of aplastic anemia and the effect of immunosuppressive therapy. ( 29330562 )
2018
39
Deep sequencing and flow cytometric characterization of expanded effector memory CD8+CD57+ T cells frequently reveals T-cell receptor VI^ oligoclonality and CDR3 homology in acquired aplastic anemia. ( 29419434 )
2018
40
Combined intensive immunosuppression and eculizumab for aplastic anemia in the context of hemolytic paroxysmal nocturnal hemoglobinuria: a retrospective analysis. ( 29131151 )
2018
41
CD106 is a novel mediator of bone marrow mesenchymal stem cells via NF-I_B in the bone marrow failure of acquired aplastic anemia. ( 28764810 )
2017
42
Prevalence of somatic mutations in patients with aplastic anemia using peripheral blood cfDNA as compared with BM. ( 28832022 )
2017
43
Outcome of Second Transplantation Using Umbilical Cord Blood for Graft Failure after Allogeneic Hematopoietic Stem Cell Transplantation for Aplastic Anemia. ( 28844947 )
2017
44
Epstein-Barr Virus-associated Lymphoproliferative Disorder with Encephalitis Following Anti-thymocyte Globulin for Aplastic Anemia Resolved with Rituximab Therapy: A Case Report and Literature Review. ( 28321074 )
2017
45
Erythroid response during iron chelation therapy in a cohort of patients affected by hematologic malignancies and aplastic anemia with transfusion requirement and iron overload: a FISM Italian multicenter retrospective study. ( 28482720 )
2017
46
Observational Monitoring of Patients with Aplastic Anemia and Low/Intermediate-1 Risk of Myelodysplastic Syndromes Complicated with Iron Overload. ( 28866669 )
2017
47
Origins of myelodysplastic syndromes after aplastic anemia. ( 28893734 )
2017
48
Unrelated cord blood transplantation in aplastic anemia: is anti-thymocyte globulin indispensable for conditioning? ( 28783143 )
2017
49
Clinical outcomes in adult patients with aplastic anemia: A single institution experience. ( 28850699 )
2017
50
Zaimoku Y, Takamatsu H, Hosomichi K, et al. Identification of an HLA class I allele closely involved in the autoantigen presentation in acquired aplastic anemia. Blood. 2017;129(21):2908-2916. ( 28838943 )
2017

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 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 TERC NR_001566.1(TERC): n.204C> G single nucleotide variant Pathogenic rs199422277 GRCh37 Chromosome 3, 169482645: 169482645
2 TERC NR_001566.1(TERC): n.204C> G single nucleotide variant Pathogenic rs199422277 GRCh38 Chromosome 3, 169764857: 169764857
3 TERC NR_001566.1(TERC): n.72C> G single nucleotide variant Pathogenic rs199422265 GRCh37 Chromosome 3, 169482777: 169482777
4 TERC NR_001566.1(TERC): n.72C> G single nucleotide variant Pathogenic rs199422265 GRCh38 Chromosome 3, 169764989: 169764989
5 TERC NR_001566.1(TERC): n.110_113delGACT deletion Pathogenic rs199422270 GRCh37 Chromosome 3, 169482736: 169482739
6 TERC NR_001566.1(TERC): n.110_113delGACT deletion Pathogenic rs199422270 GRCh38 Chromosome 3, 169764948: 169764951
7 TERC NR_001566.1(TERC): n.116C> T single nucleotide variant Pathogenic rs199422272 GRCh37 Chromosome 3, 169482733: 169482733
8 TERC NR_001566.1(TERC): n.116C> T single nucleotide variant Pathogenic rs199422272 GRCh38 Chromosome 3, 169764945: 169764945
9 TERC NR_001566.1(TERC): n.98G> A single nucleotide variant Pathogenic rs199422268 GRCh37 Chromosome 3, 169482751: 169482751
10 TERC NR_001566.1(TERC): n.98G> A single nucleotide variant Pathogenic rs199422268 GRCh38 Chromosome 3, 169764963: 169764963
11 TERC TERC, 325G-T single nucleotide variant Pathogenic
12 TERC TERC, 143G-A single nucleotide variant Pathogenic
13 TERC TERC, 212C-G single nucleotide variant Pathogenic

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

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

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

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

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

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