KEGG DISEASE: Pulmonary fibrosis and/or bone marrow failure, telomere-related

DISEASE: Pulmonary fibrosis and/or bone marrow failure, telomere-related

Entry

H02569                      Disease

Name

Pulmonary fibrosis and/or bone marrow failure, telomere-related

Supergrp

Idiopathic pulmonary fibrosis [DS:H01299]

Description

Pulmonary fibrosis and/or bone marrow failure, telomere-related (PFBMFT) is also known as human telomere biology disorders, or short telomere syndromes. PFBMFT is a group of hereditary disorders caused by inherited loss-of-function mutations in telomere associated genes. It has a wide phenotypic spectrum that include bone marrow failure, pulmonary and liver fibrosis, mucocutaneous fragility, and predisposition to myelodysplastic syndromes and cancer.

Category

Hematologic disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   3A70  Aplastic anaemia
    H02569  Pulmonary fibrosis and/or bone marrow failure, telomere-related
Pathway-based classification of diseases [BR:br08402]
Replication and repair
  nt06509  DNA replication
   H02569  Pulmonary fibrosis and/or bone marrow failure, telomere-related
  nt06510  Telomere length regulation
   H02569  Pulmonary fibrosis and/or bone marrow failure, telomere-related
  nt06502  Nucleotide excision repair
   H02569  Pulmonary fibrosis and/or bone marrow failure, telomere-related
  nt06506  Double-strand break repair
   H02569  Pulmonary fibrosis and/or bone marrow failure, telomere-related
  nt06508  Interstrand crosslink repair
   H02569  Pulmonary fibrosis and/or bone marrow failure, telomere-related

Pathway

hsa03420 Nucleotide excision repair

Network

nt06502 Nucleotide excision repair
nt06506 Double-strand break repair
nt06508 Interstrand crosslink repair
nt06509 DNA replication
nt06510 Telomere length regulation

Gene

(PFBMFT1) TERT [HSA:7015] [KO:K11126]
(PFBMFT2) TERC [HSA:7012] [KO:K22183]
(PFBMFT3) RTEL1 [HSA:51750] [KO:K11136]
(PFBMFT4) PARN [HSA:5073] [KO:K01148]
(PFBMFT5) ZCCHC8 [HSA:55596] [KO:K13128]
(PFBMFT6) RPA1 [HSA:6117] [KO:K07466]
(PFBMFT7) NAF1 [HSA:92345] [KO:K14763]
(PFBMFT8) POT1 [HSA:25913] [KO:K11109]
(PFBMFT9) NOP10 [HSA:55505] [KO:K11130]

Other DBs

ICD-11:

3A70.0

OMIM:

614742 614743 616373 616371 618674 619767 620365 620367 620400

Reference

PMID:22512499

Authors

Gansner JM, Rosas IO, Ebert BL

Title

Pulmonary fibrosis, bone marrow failure, and telomerase mutation.

Journal

N Engl J Med 366:1551-3 (2012)
DOI:10.1056/NEJMc1200999

Reference

PMID:15814878 (PFBMFT1)

Authors

Yamaguchi H, Calado RT, Ly H, Kajigaya S, Baerlocher GM, Chanock SJ, Lansdorp PM, Young NS

Title

Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.

Journal

N Engl J Med 352:1413-24 (2005)
DOI:10.1056/NEJMoa042980

Reference

PMID:12090986 (PFBMFT2)

Authors

Vulliamy T, Marrone A, Dokal I, Mason PJ

Title

Association between aplastic anaemia and mutations in telomerase RNA.

Journal

Lancet 359:2168-70 (2002)
DOI:10.1016/S0140-6736(02)09087-6

Reference

PMID:25848748 (PFBMFT3 PFBMFT4)

Authors

Stuart BD, Choi J, Zaidi S, Xing C, Holohan B, Chen R, Choi M, Dharwadkar P, Torres F, Girod CE, Weissler J, Fitzgerald J, Kershaw C, Klesney-Tait J, Mageto Y, Shay JW, Ji W, Bilguvar K, Mane S, Lifton RP, Garcia CK

Title

Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.

Journal

Nat Genet 47:512-7 (2015)
DOI:10.1038/ng.3278

Reference

PMID:31488579 (PFBMFT5)

Authors

Gable DL, Gaysinskaya V, Atik CC, Talbot CC Jr, Kang B, Stanley SE, Pugh EW, Amat-Codina N, Schenk KM, Arcasoy MO, Brayton C, Florea L, Armanios M

Title

ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation.

Journal

Genes Dev 33:1381-1396 (2019)
DOI:10.1101/gad.326785.119

Reference

PMID:34767620 (PFBMFT6)

Authors

Sharma R, Sahoo SS, Honda M, Granger SL, Goodings C, Sanchez L, Kunstner A, Busch H, Beier F, Pruett-Miller SM, Valentine MB, Fernandez AG, Chang TC, Geli V, Churikov D, Hirschi S, Pastor VB, Boerries M, Lauten M, Kelaidi C, Cooper MA, Nicholas S, Rosenfeld JA, Polychronopoulou S, Kannengiesser C, Saintome C, Niemeyer CM, Revy P, Wold MS, Spies M, Erlacher M, Coulon S, Wlodarski MW

Title

Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue.

Journal

Blood 139:1039-1051 (2022)
DOI:10.1182/blood.2021011980

Reference

PMID:27510903 (PFBMFT7)

Authors

Stanley SE, Gable DL, Wagner CL, Carlile TM, Hanumanthu VS, Podlevsky JD, Khalil SE, DeZern AE, Rojas-Duran MF, Applegate CD, Alder JK, Parry EM, Gilbert WV, Armanios M

Title

Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema.

Journal

Sci Transl Med 8:351ra107 (2016)
DOI:10.1126/scitranslmed.aaf7837

Reference

PMID:35420632 (PFBMFT8)

Authors

Kelich J, Aramburu T, van der Vis JJ, Showe L, Kossenkov A, van der Smagt J, Massink M, Schoemaker A, Hennekam E, Veltkamp M, van Moorsel CHM, Skordalakes E

Title

Telomere dysfunction implicates POT1 in patients with idiopathic pulmonary fibrosis.

Journal

J Exp Med 219:213140 (2022)
DOI:10.1084/jem.20211681

Reference

PMID:32139460 (PFBMFT9)

Authors

Kannengiesser C, Manali ED, Revy P, Callebaut I, Ba I, Borgel A, Oudin C, Haritou A, Kolilekas L, Malagari K, Borie R, Lainey E, Boileau C, Crestani B, Papiris SA

Title

First heterozygous NOP10 mutation in familial pulmonary fibrosis.

Journal

Eur Respir J 55:1902465 (2020)
DOI:10.1183/13993003.02465-2019

LinkDB

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