PFBMFT1
MCID: PLM139
MIFTS: 27

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

Categories: Genetic diseases, Bone diseases, Immune diseases

Aliases & Classifications for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...

Aliases & Descriptions for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1:

Name: Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 54 69
Pulmonary Fibrosis, and/or Bone Marrow Failure, Telomere-Related, 1 66 29
Pfbmft1 66

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 614742
MeSH 42 D011658

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

OMIM : 54 Shortened telomeres can cause a wide variety of clinical features that constitute a phenotypic spectrum. The most... (614742) more...

MalaCards based summary : Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1, also known as pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1, is related to dyskeratosis congenita, autosomal dominant 1 and pulmonary fibrosis, idiopathic, and has symptoms including pulmonary fibrosis, bone marrow hypocellularity and aplastic anemia. An important gene associated with Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 is TERT (Telomerase Reverse Transcriptase). The drugs Miconazole and Nandrolone have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid.

UniProtKB/Swiss-Prot : 66 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 related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita, autosomal dominant 1 10.8
2 pulmonary fibrosis, idiopathic 10.8

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

Symptoms by clinical synopsis from OMIM:

614742

Clinical features from OMIM:

614742

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

32 (show all 6)
id 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 HP:0001394
5 premature graying of hair 32 HP:0002216
6 leukemia 32 HP:0001909

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

Drugs for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
2
Nandrolone Approved, Experimental, Illicit Phase 1, Phase 2 434-22-0, 62-90-8 9904 229455
3
Nandrolone decanoate Approved, Illicit Phase 1, Phase 2 360-70-3 9677
4
decanoic acid Experimental Phase 1, Phase 2 334-48-5 2969
5 Anabolic Agents Phase 1, Phase 2
6 Androgens Phase 1, Phase 2
7 Antifungal Agents Phase 1, Phase 2
8 Anti-Infective Agents Phase 1, Phase 2
9 Hormone Antagonists Phase 1, Phase 2
10 Hormones Phase 1, Phase 2
11 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Nandrolone Decanoate in the Treatment of Telomeropathies Recruiting NCT02055456 Phase 1, Phase 2

Search 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:

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

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:

39
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:

66 (show all 14)
id 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 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 TERT NM_198253.2(TERT): c.2080G> A (p.Val694Met) single nucleotide variant Pathogenic rs121918662 GRCh37 Chromosome 5, 1279456: 1279456
2 TERT NM_198253.2(TERT): c.2315A> G (p.Tyr772Cys) single nucleotide variant Pathogenic rs121918663 GRCh37 Chromosome 5, 1272367: 1272367
3 TERT NM_198253.2(TERT): c.3268G> A (p.Val1090Met) single nucleotide variant Pathogenic rs121918664 GRCh37 Chromosome 5, 1254510: 1254510
4 TERT NM_198253.2(TERT): c.2594G> A (p.Arg865His) single nucleotide variant Pathogenic rs121918666 GRCh37 Chromosome 5, 1266639: 1266639
5 TERT NM_198253.2(TERT): c.2240delT (p.Val747Alafs) deletion Pathogenic rs199422300 GRCh37 Chromosome 5, 1278802: 1278802
6 TERT NM_198253.2(TERT): c.219+1G> A single nucleotide variant Pathogenic rs199422309 GRCh37 Chromosome 5, 1294885: 1294885
7 TERT NM_198253.2(TERT): c.2583-2A> C single nucleotide variant Pathogenic rs111576740 GRCh37 Chromosome 5, 1266652: 1266652
8 TERT NM_198253.2(TERT): c.164T> A (p.Leu55Gln) single nucleotide variant Pathogenic rs387907247 GRCh37 Chromosome 5, 1294941: 1294941
9 TERT NM_198253.2(TERT): c.508G> A (p.Val170Met) single nucleotide variant Pathogenic rs387907248 GRCh37 Chromosome 5, 1294493: 1294493
10 TERT NM_198253.2(TERT): c.2146G> A (p.Ala716Thr) single nucleotide variant Pathogenic rs387907249 GRCh37 Chromosome 5, 1278896: 1278896
11 TERT NM_198253.2(TERT): c.2705A> G (p.Lys902Arg) single nucleotide variant Pathogenic rs387907250 GRCh37 Chromosome 5, 1264657: 1264657
12 TERT NM_198253.2(TERT): c.2768C> T (p.Pro923Leu) single nucleotide variant Pathogenic rs387907251 GRCh37 Chromosome 5, 1264594: 1264594

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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