MCID: PLM175
MIFTS: 48

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

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 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, edema and chest pain. 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 pulmonary fibrosis and bone marrow hypocellularity

Description from OMIM: 614743

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

Diseases in the Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 family:

Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3

Diseases related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 267)
# Related Disease Score Top Affiliating Genes
1 aplastic anemia 13.0
2 pulmonary fibrosis, idiopathic 12.8
3 retinopathy aplastic anemia neurological abnormalities 12.2
4 bone marrow failure syndrome 1 12.0
5 congenital hypoplastic anemia 11.9
6 dyskeratosis congenita, autosomal dominant 6 11.7
7 paroxysmal nocturnal hemoglobinuria 11.6
8 deficiency anemia 11.6
9 dyskeratosis congenita 11.4
10 eosinophilic fasciitis 11.4
11 revesz syndrome 11.4
12 amegakaryocytic thrombocytopenia, congenital 11.4
13 immunodeficiency 21 11.4
14 idiopathic interstitial pneumonia 11.4
15 dyskeratosis congenita, autosomal dominant 2 11.2
16 dyskeratosis congenita, autosomal dominant 3 11.2
17 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 11.2
18 dyskeratosis congenita, autosomal recessive 5 11.2
19 dyskeratosis congenita, autosomal recessive 1 11.1
20 lymphoproliferative syndrome, x-linked, 1 11.1
21 dyskeratosis congenita, autosomal recessive 2 11.1
22 dyskeratosis congenita, autosomal recessive 3 11.1
23 dyskeratosis congenita, autosomal recessive 6 11.1
24 pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 11.1
25 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 11.1
26 myelophthisic anemia 11.1
27 sideroblastic anemia 11.1
28 littoral cell angioma of the spleen 11.1
29 hematopoietic stem cell transplantation 10.7
30 pulmonary fibrosis 10.7
31 hemoglobinuria 10.7
32 hepatitis 10.7
33 myelodysplastic syndrome 10.7
34 leukemia 10.6
35 granulocytopenia 10.5
36 myeloid leukemia 10.4
37 refractory anemia 10.4
38 leukemia, acute myeloid 10.4
39 fanconi anemia, complementation group a 10.3
40 graft-versus-host disease 10.3
41 thrombocytopenia 10.3
42 hemosiderosis 10.3
43 acute liver failure 10.3
44 pure red-cell aplasia 10.3
45 pancytopenia 10.3
46 thymoma 10.3
47 purpura 10.3
48 lymphocytic leukemia 10.2
49 lupus erythematosus 10.2
50 viral infectious disease 10.2

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

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

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 pulmonary fibrosis 32 HP:0002206
2 bone marrow hypocellularity 32 HP:0005528
3 aplastic anemia 32 HP:0001915
4 cirrhosis 32 occasional (7.5%) HP:0001394
5 premature graying of hair 32 HP:0002216
6 leukemia 32 HP:0001909
7 myeloid leukemia 32 HP:0012324

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,...

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, B Cells, 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 1679)
# Title Authors Year
1
A response to the letter to the editor on Shaikh et al. Aplastic anemia secondary to propylthiouracil: A rare and life-threatening adverse effect. ( 29587606 )
2019
2
Successful reduced-intensity conditioning hematopoietic stem cell transplantation for paroxysmal nocturnal hemoglobinuria with aplastic anemia in two children. ( 29722478 )
2018
3
Acquired Aplastic Anemia: What Have We Learned and What Is in the Horizon? ( 29803285 )
2018
4
Celiac disease associated with aplastic anemia in a 6-year-old girl: a case report and review of the literature. ( 29361973 )
2018
5
Fanconi Anemia germline variants as susceptibility factors in aplastic anemia, MDS and AML. ( 29416752 )
2018
6
Unrelated cord blood transplantation in patients with acquired refractory aplastic anemia: a nationwide phase II study. ( 29760162 )
2018
7
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
8
Updated Guidelines for the Treatment of Acquired Aplastic Anemia in Children. ( 29961134 )
2018
9
Horse versus Rabbit Antithymocyte Globulin in Acquired Aplastic Anemia. ( 29897839 )
2018
10
Effects and Predictive Factors of Immunosuppressive Therapy Combined with Umbilical Cord Blood Infusion in Patients with Severe Aplastic Anemia. ( 29869462 )
2018
11
Increased apoptosis and peripheral blood mononuclear cell suppression of bone marrow mesenchymal stem cells in severe aplastic anemia. ( 29870142 )
2018
12
Why is it necessary to examine retina when the patient suffers from aplastic anemia? ( 29749240 )
2018
13
Hepatitis A, cardiomyopathy, aplastic anemia, and acute liver failure: A devastating scenario. ( 29359844 )
2018
14
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
15
Anorexia nervosa-associated pancytopenia mimicking idiopathic aplastic anemia: a case report. ( 29801443 )
2018
16
Circulating S100A8 and S100A9 protein levels in plasma of patients with acquired aplastic anemia and myelodysplastic syndromes. ( 29958797 )
2018
17
Upfront eltrombopag monotherapy induces stable hematologic remission in pediatric patients with nonsevere idiopathic aplastic anemia. ( 29932285 )
2018
18
Skin Induration in a Patient with Aplastic Anemia. ( 29381836 )
2018
19
Idiopathic severe aplastic anemia with a delayed response to immunosuppressive therapy: a case report. ( 29881557 )
2018
20
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
21
Autologous Bone Marrow Transplantation for Polymyositis Combined with Myasthenia Gravis and Aplastic Anemia: A Case Report. ( 29805377 )
2018
22
Efficacy and safety of combined immunosuppressive therapy plus umbilical cord blood infusion in severe aplastic anemia patients: A cohort study. ( 29434791 )
2018
23
Aplastic anemia secondary to propylthiouracil: A rare and life-threatening adverse effect. ( 29357782 )
2018
24
Concurrent treatment of aplastic anemia/Paroxysmal Nocturnal Hemoglobinuria syndrome with immunosuppressive therapy and eculizumab: a UK experience. ( 29545341 )
2018
25
Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres. ( 29980875 )
2018
26
Optimal donor for severe aplastic anemia patient requiring allogeneic hematopoietic stem cell transplantation: A large-sample study from China. ( 29410500 )
2018
27
Sex-specific analysis post-liver transplantation in hemochromatosis with aplastic anemia and hepatocellular carcinoma. ( 29404507 )
2018
28
Epstein Barr Virus Infection Affects Function of Cytotoxic T Lymphocytes in Patients with Severe Aplastic Anemia. ( 29862282 )
2018
29
Acute hepatitis as a prequel to very severe aplastic anemia. ( 29316578 )
2018
30
Patient features and survival of pediatric aplastic anemia in the USA: a large institution experience. ( 29901745 )
2018
31
Allogeneic Matched Related Donor Bone Marrow Transplantation for Pediatric Patients With Severe Aplastic Anemia Using "Low-dose" Cyclophosphamide, ATG Plus Fludarabine. ( 29432302 )
2018
32
Danazol increases T regulatory cells in patients with aplastic anemia. ( 29415633 )
2018
33
A composite mouse model of aplastic anemia complicated with iron overload. ( 29434729 )
2018
34
Recurrent ovarian hemorrhage in a patient with aplastic anemia: A case report. ( 29979439 )
2018
35
Hematopoietic stem cell loss and hematopoietic failure in severe aplastic anemia is driven by macrophages and aberrant podoplanin expression. ( 29773597 )
2018
36
iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors. ( 29374141 )
2018
37
Rabbit antithymocyte globulin dose does not affect response or survival as first-line therapy for acquired aplastic anemia: a multicenter retrospective study. ( 29978284 )
2018
38
Unmanipulated Haploidentical Hematopoietic Stem Cell Transplantation Achieved Outcomes Comparable With Matched Unrelated Donor Transplantation in Young Acquired Severe Aplastic Anemia. ( 29772350 )
2018
39
Autologous cord blood transplantation in children with acquired severe aplastic anemia. ( 30536537 )
2018
40
Correction to: Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres. ( 30552465 )
2018
41
Comparable Outcomes after HLA-Matched Sibling and Alternative Donor Hematopoietic Cell Transplantation for Children with Fanconi Anemia and Severe Aplastic Anemia. ( 29203412 )
2018
42
Efficacy of antithymocyte globulin as first-line treatment for aplastic anemia-a single-center experience. ( 29247402 )
2018
43
Nutritional support contributes to recuperation in a rat model of aplastic anemia by enhancing mitochondrial function. ( 29290359 )
2018
44
First-line choice for severe aplastic anemia in children: Transplantation from a haploidentical donor vs immunosuppressive therapy. ( 29297952 )
2018
45
Amegakaryocytic Thrombocytopenia and Subsequent Aplastic Anemia Associated with Apparent Epstein-Barr Virus Infection. ( 29301129 )
2018
46
Comparative study of porcine anti-human lymphocyte immunoglobulin and rabbit anti-human thymocyte immunoglobulin as a first-line treatment of acquired severe aplastic anemia. ( 29306655 )
2018
47
Influence of genetic polymorphisms of IL23R, STAT3, IL12B, and STAT4 on the risk of aplastic anemia and the effect of immunosuppressive therapy. ( 29330562 )
2018
48
Deep sequencing and flow cytometric characterization of expanded effector memory CD8+CD57+ T cells frequently reveals T-cell receptor Vβ oligoclonality and CDR3 homology in acquired aplastic anemia. ( 29419434 )
2018
49
Aplastic Anemia and Risk of Incident Atrial Fibrillation - A Nationwide Cohort Study. ( 29459495 )
2018
50
Hematopoiesis by iPSC-derived hematopoietic stem cells of aplastic anemia that escape cytotoxic T-cell attack. ( 29472446 )
2018

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

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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10 dbSNP
11 DGIdb
17 ExPASy
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31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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