PFBMFT1
MCID: PLM139
MIFTS: 23

Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 (PFBMFT1)

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, 1:

Name: Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 57 29 6 73
Pfbmft1 57 75
Fibrosis, Pulmonary, and/or Bone Marrow Failure, Telomere-Related, Type 1 40
Pulmonary Fibrosis, and/or Bone Marrow Failure, Telomere-Related, 1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
adult onset
incomplete penetrance
variable manifestations


HPO:

32
pulmonary fibrosis and/or bone marrow failure, telomere-related, 1:
Onset and clinical course adult onset incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



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

OMIM : 57 Shortened telomeres can cause a wide variety of clinical features that constitute a phenotypic spectrum. The most severe form is dyskeratosis congenita (see, e.g., 127750), characterized by early childhood onset of skin abnormalities, bone marrow failure, predisposition to malignancy, and risk of pulmonary and hepatic fibrosis. Adult-onset pulmonary fibrosis is the most common manifestation of mutant telomerase genes. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Phenotype, age at onset, and severity are determined by telomere length, not just telomerase mutation (summary by Armanios, 2009). The genetic diagnosis of telomere-related bone marrow failure and pulmonary fibrosis has implications for treatment because affected individuals generally do not respond to immunosuppression and may be at increased risk for fatal complications after bone marrow or lung transplantation (Parry et al., 2011). (614742)

MalaCards based summary : Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1, also known as pfbmft1, is related to pulmonary fibrosis, idiopathic. An important gene associated with Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 is TERT (Telomerase Reverse Transcriptase). Affiliated tissues include bone, bone marrow and myeloid, and related phenotypes are pulmonary fibrosis and bone marrow hypocellularity

UniProtKB/Swiss-Prot : 75 Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1: A disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length.

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, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pulmonary fibrosis, idiopathic 11.1

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 patients)

Laboratory Abnormalities:
decreased telomere length in lymphocytes


Clinical features from OMIM:

614742

Human phenotypes related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1:

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

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, 1

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, 1:

# Genetic test Affiliating Genes
1 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 29 TERT

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, 1:

41
Bone, Bone Marrow, Myeloid, Lung, Skin

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

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

UniProtKB/Swiss-Prot genetic disease variations for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1:

75 (show all 14)
# Symbol AA change Variation ID SNP ID
1 TERT p.His412Tyr VAR_025149 rs34094720
2 TERT p.Ala202Thr VAR_036863 rs121918661
3 TERT p.Val694Met VAR_036866 rs121918662
4 TERT p.Tyr772Cys VAR_036867 rs121918663
5 TERT p.Arg865His VAR_036868 rs121918666
6 TERT p.Val1090Met VAR_036870 rs121918664
7 TERT p.Val170Met VAR_068792 rs387907248
8 TERT p.Ala716Thr VAR_068794 rs387907249
9 TERT p.Val791Ile VAR_068795 rs141425941
10 TERT p.Leu841Phe VAR_068796
11 TERT p.Val867Met VAR_068797 rs201159197
12 TERT p.Lys902Arg VAR_068798 rs387907250
13 TERT p.Pro923Leu VAR_068799 rs387907251
14 TERT p.Val1025Phe VAR_068800

ClinVar genetic disease variations for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1:

6 (show all 42)
# Gene Variation Type Significance SNP ID Assembly Location
1 TERT NM_198253.2(TERT): c.604G> A (p.Ala202Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs121918661 GRCh37 Chromosome 5, 1294397: 1294397
2 TERT NM_198253.2(TERT): c.604G> A (p.Ala202Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs121918661 GRCh38 Chromosome 5, 1294282: 1294282
3 TERT NM_198253.2(TERT): c.1234C> T (p.His412Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs34094720 GRCh37 Chromosome 5, 1293767: 1293767
4 TERT NM_198253.2(TERT): c.1234C> T (p.His412Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs34094720 GRCh38 Chromosome 5, 1293652: 1293652
5 TERT NM_198253.2(TERT): c.2080G> A (p.Val694Met) single nucleotide variant Pathogenic rs121918662 GRCh37 Chromosome 5, 1279456: 1279456
6 TERT NM_198253.2(TERT): c.2080G> A (p.Val694Met) single nucleotide variant Pathogenic rs121918662 GRCh38 Chromosome 5, 1279341: 1279341
7 TERT NM_198253.2(TERT): c.2315A> G (p.Tyr772Cys) single nucleotide variant Pathogenic rs121918663 GRCh37 Chromosome 5, 1272367: 1272367
8 TERT NM_198253.2(TERT): c.2315A> G (p.Tyr772Cys) single nucleotide variant Pathogenic rs121918663 GRCh38 Chromosome 5, 1272252: 1272252
9 TERT NM_198253.2(TERT): c.3268G> A (p.Val1090Met) single nucleotide variant Uncertain significance rs121918664 GRCh37 Chromosome 5, 1254510: 1254510
10 TERT NM_198253.2(TERT): c.3268G> A (p.Val1090Met) single nucleotide variant Uncertain significance rs121918664 GRCh38 Chromosome 5, 1254395: 1254395
11 TERT NM_198253.2(TERT): c.2594G> A (p.Arg865His) single nucleotide variant Pathogenic rs121918666 GRCh37 Chromosome 5, 1266639: 1266639
12 TERT NM_198253.2(TERT): c.2594G> A (p.Arg865His) single nucleotide variant Pathogenic rs121918666 GRCh38 Chromosome 5, 1266524: 1266524
13 TERT NM_198253.2(TERT): c.2240delT (p.Val747Alafs) deletion Pathogenic rs199422300 GRCh37 Chromosome 5, 1278802: 1278802
14 TERT NM_198253.2(TERT): c.2240delT (p.Val747Alafs) deletion Pathogenic rs199422300 GRCh38 Chromosome 5, 1278687: 1278687
15 TERT NM_198253.2(TERT): c.219+1G> A single nucleotide variant Pathogenic rs199422309 GRCh37 Chromosome 5, 1294885: 1294885
16 TERT NM_198253.2(TERT): c.219+1G> A single nucleotide variant Pathogenic rs199422309 GRCh38 Chromosome 5, 1294770: 1294770
17 TERT NM_198253.2(TERT): c.1892G> A (p.Arg631Gln) single nucleotide variant Pathogenic rs199422294 GRCh37 Chromosome 5, 1280331: 1280331
18 TERT NM_198253.2(TERT): c.1892G> A (p.Arg631Gln) single nucleotide variant Pathogenic rs199422294 GRCh38 Chromosome 5, 1280216: 1280216
19 TERT NM_198253.2(TERT): c.2583-2A> C single nucleotide variant Pathogenic rs111576740 GRCh37 Chromosome 5, 1266652: 1266652
20 TERT NM_198253.2(TERT): c.2583-2A> C single nucleotide variant Pathogenic rs111576740 GRCh38 Chromosome 5, 1266537: 1266537
21 TERT NM_198253.2(TERT): c.164T> A (p.Leu55Gln) single nucleotide variant Pathogenic rs387907247 GRCh37 Chromosome 5, 1294941: 1294941
22 TERT NM_198253.2(TERT): c.164T> A (p.Leu55Gln) single nucleotide variant Pathogenic rs387907247 GRCh38 Chromosome 5, 1294826: 1294826
23 TERT NM_198253.2(TERT): c.2371G> A (p.Val791Ile) single nucleotide variant Uncertain significance rs141425941 GRCh37 Chromosome 5, 1272311: 1272311
24 TERT NM_198253.2(TERT): c.2371G> A (p.Val791Ile) single nucleotide variant Uncertain significance rs141425941 GRCh38 Chromosome 5, 1272196: 1272196
25 TERT NM_198253.2(TERT): c.2599G> A (p.Val867Met) single nucleotide variant no interpretation for the single variant rs201159197 GRCh37 Chromosome 5, 1266634: 1266634
26 TERT NM_198253.2(TERT): c.2599G> A (p.Val867Met) single nucleotide variant no interpretation for the single variant rs201159197 GRCh38 Chromosome 5, 1266519: 1266519
27 TERT NM_198253.2(TERT): c.508G> A (p.Val170Met) single nucleotide variant Uncertain significance rs387907248 GRCh37 Chromosome 5, 1294493: 1294493
28 TERT NM_198253.2(TERT): c.508G> A (p.Val170Met) single nucleotide variant Uncertain significance rs387907248 GRCh38 Chromosome 5, 1294378: 1294378
29 TERT NM_198253.2(TERT): c.2146G> A (p.Ala716Thr) single nucleotide variant Pathogenic rs387907249 GRCh37 Chromosome 5, 1278896: 1278896
30 TERT NM_198253.2(TERT): c.2146G> A (p.Ala716Thr) single nucleotide variant Pathogenic rs387907249 GRCh38 Chromosome 5, 1278781: 1278781
31 TERT NM_198253.2(TERT): c.2705A> G (p.Lys902Arg) single nucleotide variant Pathogenic rs387907250 GRCh37 Chromosome 5, 1264657: 1264657
32 TERT NM_198253.2(TERT): c.2705A> G (p.Lys902Arg) single nucleotide variant Pathogenic rs387907250 GRCh38 Chromosome 5, 1264542: 1264542
33 TERT NM_198253.2(TERT): c.2768C> T (p.Pro923Leu) single nucleotide variant Pathogenic rs387907251 GRCh37 Chromosome 5, 1264594: 1264594
34 TERT NM_198253.2(TERT): c.2768C> T (p.Pro923Leu) single nucleotide variant Pathogenic rs387907251 GRCh38 Chromosome 5, 1264479: 1264479
35 TERT NM_198253.2(TERT): c.579_580delCCinsTT (p.Arg194Ter) indel Pathogenic GRCh38 Chromosome 5, 1294306: 1294307
36 TERT NM_198253.2(TERT): c.579_580delCCinsTT (p.Arg194Ter) indel Pathogenic GRCh37 Chromosome 5, 1294421: 1294422
37 TERT NM_198253.2(TERT): c.3399A> G (p.Ter1133Trp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 5, 1253843: 1253843
38 TERT NM_198253.2(TERT): c.3399A> G (p.Ter1133Trp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 5, 1253728: 1253728
39 TERT NM_198253.2(TERT): c.2287-5G> A single nucleotide variant Uncertain significance rs561426406 GRCh37 Chromosome 5, 1272400: 1272400
40 TERT NM_198253.2(TERT): c.2287-5G> A single nucleotide variant Uncertain significance rs561426406 GRCh38 Chromosome 5, 1272285: 1272285
41 TERT NM_198253.2(TERT): c.2051A> G (p.Asp684Gly) single nucleotide variant Likely pathogenic rs776981958 GRCh38 Chromosome 5, 1279370: 1279370
42 TERT NM_198253.2(TERT): c.2051A> G (p.Asp684Gly) single nucleotide variant Likely pathogenic rs776981958 GRCh37 Chromosome 5, 1279485: 1279485

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, 1.

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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