PFBMFT3
MCID: PLM143
MIFTS: 34

Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 (PFBMFT3)

Categories: Bone diseases, Cancer diseases, Genetic diseases, Immune diseases, Respiratory 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, 3:

Name: Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 57 29 6
Pfbmft3 57 72
Fibrosis, Pulmonary, and/or Bone Marrow Failure, Telomere-Related, Type 3 39
Pulmonary Fibrosis, and/or Bone Marrow Failure, Telomere-Related, 3 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
adult onset
incomplete penetrance
variable manifestations

Inheritance:
autosomal dominant


HPO:

31
pulmonary fibrosis and/or bone marrow failure, telomere-related, 3:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset incomplete penetrance


Classifications:



External Ids:

OMIM® 57 616373
OMIM Phenotypic Series 57 PS614742
MeSH 44 D011658
SNOMED-CT via HPO 68 263681008 51615001

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

UniProtKB/Swiss-Prot : 72 Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 3: 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.

MalaCards based summary : Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3, also known as pfbmft3, is related to pulmonary fibrosis and dyskeratosis congenita, autosomal recessive 5. An important gene associated with Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 is RTEL1 (Regulator Of Telomere Elongation Helicase 1). Affiliated tissues include bone marrow, bone and myeloid, and related phenotypes are pulmonary fibrosis and decreased dlco

More information from OMIM: 616373 PS614742

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

Graphical network of the top 20 diseases related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3:



Diseases related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3

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

Human phenotypes related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 pulmonary fibrosis 31 very rare (1%) HP:0002206
2 decreased dlco 31 very rare (1%) HP:0045051
3 reduced forced vital capacity 31 very rare (1%) HP:0032341
4 reduced forced expiratory volume in one second 31 very rare (1%) HP:0032342
5 usual interstitial pneumonia 31 HP:0031950
6 short telomere length 31 HP:0031413

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Respiratory Lung:
pulmonary fibrosis

Laboratory Abnormalities:
decreased telomere length in lymphocytes

Clinical features from OMIM®:

616373 (Updated 20-May-2021)

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, 3

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, 3:

# Genetic test Affiliating Genes
1 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 29 RTEL1

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, 3:

40
Bone Marrow, Bone, Myeloid

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

Articles related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3:

(show all 20)
# Title Authors PMID Year
1
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. 6 57
25848748 2015
2
Rare variants in RTEL1 are associated with familial interstitial pneumonia. 57 6
25607374 2015
3
Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. 57 6
23959892 2013
4
Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome. 6 57
19461895 2009
5
Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea. 6
28930861 2017
6
An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis. 6
28099038 2017
7
Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders. 6
27824607 2017
8
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. 6
27418648 2016
9
Novel Compound Heterozygous RTEL1 Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome. 6
27128385 2016
10
Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain. 6
26847928 2016
11
TCR αβ and CD19-depleted haploidentical stem cell transplant with reduced intensity conditioning for Hoyeraal-Hreidarsson syndrome with RTEL1 mutation. 6
26808564 2016
12
A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency. 6
26025130 2015
13
Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population. 6
25047097 2015
14
TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding. 6
25620558 2015
15
Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD. 6
25099625 2014
16
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. 6
24009516 2013
17
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. 6
23329068 2013
18
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 6
23453664 2013
19
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. 6
17576681 2007
20
Statistical features of human exons and their flanking regions. 6
9536098 1998

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, 3:

6 (show top 50) (show all 560)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RTEL1-TNFRSF6B , RTEL1 NM_032957.4(RTEL1):c.607G>T (p.Glu203Ter) SNV Pathogenic 540926 rs1555899932 GRCh37: 20:62294239-62294239
GRCh38: 20:63662886-63662886
2 RTEL1-TNFRSF6B , RTEL1 NM_016434.3(RTEL1):c.3371A>C (p.His1124Pro) SNV Pathogenic 190475 rs786205702 GRCh37: 20:62326446-62326446
GRCh38: 20:63695093-63695093
3 RTEL1-TNFRSF6B , RTEL1 NM_016434.3(RTEL1):c.2005C>T (p.Gln669Ter) SNV Pathogenic 253011 rs1555811762 GRCh37: 20:62320981-62320981
GRCh38: 20:63689628-63689628
4 RTEL1-TNFRSF6B , RTEL1 NM_032957.4(RTEL1):c.1523C>T (p.Pro508Leu) SNV Pathogenic 190473 rs786205700 GRCh37: 20:62319093-62319093
GRCh38: 20:63687740-63687740
5 RTEL1-TNFRSF6B , RTEL1 NM_001283010.1(RTEL1):c.-68del Deletion Pathogenic 190472 rs863223336 GRCh37: 20:62297419-62297419
GRCh38: 20:63666066-63666066
6 RTEL1-TNFRSF6B , RTEL1 NM_016434.3(RTEL1):c.1001_1014del (p.Leu334fs) Deletion Pathogenic 665122 rs1601133145 GRCh37: 20:62309662-62309675
GRCh38: 20:63678309-63678322
7 RTEL1-TNFRSF6B , RTEL1 NM_001283009.2(RTEL1):c.1606G>T (p.Glu536Ter) SNV Pathogenic 836446 GRCh37: 20:62319502-62319502
GRCh38: 20:63688149-63688149
8 RTEL1-TNFRSF6B , RTEL1 NM_001283009.2(RTEL1):c.3289del (p.Ala1097fs) Deletion Pathogenic 842863 GRCh37: 20:62326272-62326272
GRCh38: 20:63694919-63694919
9 RTEL1-TNFRSF6B , RTEL1 NM_001283009.2(RTEL1):c.361C>T (p.Gln121Ter) SNV Pathogenic 846262 GRCh37: 20:62293262-62293262
GRCh38: 20:63661909-63661909
10 RTEL1-TNFRSF6B , RTEL1 NM_001283009.2(RTEL1):c.2850del (p.Gly951fs) Deletion Pathogenic 839752 GRCh37: 20:62324354-62324354
GRCh38: 20:63693001-63693001
11 RTEL1-TNFRSF6B , RTEL1 NM_001283009.2(RTEL1):c.2485C>T (p.Gln829Ter) SNV Pathogenic 935262 GRCh37: 20:62322229-62322229
GRCh38: 20:63690876-63690876
12 RTEL1-TNFRSF6B , RTEL1 NM_001283009.2(RTEL1):c.2461G>T (p.Glu821Ter) SNV Pathogenic 937819 GRCh37: 20:62322205-62322205
GRCh38: 20:63690852-63690852
13 RTEL1-TNFRSF6B , RTEL1 NM_001283009.2(RTEL1):c.475C>T (p.Gln159Ter) SNV Pathogenic 938109 GRCh37: 20:62293978-62293978
GRCh38: 20:63662625-63662625
14 RTEL1-TNFRSF6B , RTEL1 NM_001283009.2(RTEL1):c.2725C>T (p.Gln909Ter) SNV Pathogenic 941068 GRCh37: 20:62324230-62324230
GRCh38: 20:63692877-63692877
15 RTEL1-TNFRSF6B , RTEL1 NM_001283009.2(RTEL1):c.3169C>T (p.Gln1057Ter) SNV Pathogenic 957573 GRCh37: 20:62326153-62326153
GRCh38: 20:63694800-63694800
16 RTEL1-TNFRSF6B , RTEL1 NM_001283009.2(RTEL1):c.2089C>T (p.Arg697Ter) SNV Pathogenic 959673 GRCh37: 20:62321166-62321166
GRCh38: 20:63689813-63689813
17 RTEL1-TNFRSF6B , RTEL1 NM_001283009.2(RTEL1):c.2223del (p.Ile742fs) Deletion Pathogenic 973866 GRCh37: 20:62321521-62321521
GRCh38: 20:63690168-63690168
18 RTEL1-TNFRSF6B , RTEL1 NM_001283009.2(RTEL1):c.2038C>T (p.Gln680Ter) SNV Pathogenic 957069 GRCh37: 20:62321115-62321115
GRCh38: 20:63689762-63689762
19 RTEL1-TNFRSF6B , RTEL1 NM_016434.3(RTEL1):c.2812del (p.Leu938fs) Deletion Pathogenic 577500 rs1449687529 GRCh37: 20:62324313-62324313
GRCh38: 20:63692960-63692960
20 RTEL1-TNFRSF6B , RTEL1 NM_032957.4(RTEL1):c.3028C>T (p.Arg1010Ter) SNV Pathogenic 65417 rs373740199 GRCh37: 20:62324600-62324600
GRCh38: 20:63693247-63693247
21 RTEL1-TNFRSF6B , RTEL1 NM_001283009.2(RTEL1):c.9del (p.Lys3_Ile4insTer) Deletion Pathogenic 1048767 GRCh37: 20:62290764-62290764
GRCh38: 20:63659411-63659411
22 RTEL1-TNFRSF6B , RTEL1 NM_016434.3(RTEL1):c.2957G>A (p.Arg986Gln) SNV Pathogenic 217285 rs146221660 GRCh37: 20:62324601-62324601
GRCh38: 20:63693248-63693248
23 RTEL1-TNFRSF6B , RTEL1 NM_016434.3(RTEL1):c.2219_2227del (p.His740_Ile742del) Deletion Pathogenic 217283 rs863225053 GRCh37: 20:62321515-62321523
GRCh38: 20:63690162-63690170
24 RTEL1-TNFRSF6B , RTEL1 NM_016434.3(RTEL1):c.2413+1G>C SNV Pathogenic 217284 rs776744306 GRCh37: 20:62321795-62321795
GRCh38: 20:63690442-63690442
25 RTEL1-TNFRSF6B , RTEL1 NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) SNV Pathogenic 42018 rs201540674 GRCh37: 20:62326972-62326972
GRCh38: 20:63695619-63695619
26 RTEL1-TNFRSF6B , RTEL1 NM_016434.3(RTEL1):c.2920C>T (p.Arg974Ter) SNV Pathogenic 42020 rs398123017 GRCh37: 20:62324564-62324564
GRCh38: 20:63693211-63693211
27 RTEL1-TNFRSF6B , RTEL1 NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) SNV Pathogenic 42018 rs201540674 GRCh37: 20:62326972-62326972
GRCh38: 20:63695619-63695619
28 RTEL1-TNFRSF6B , RTEL1 NM_032957.4(RTEL1):c.1548G>T (p.Met516Ile) SNV Pathogenic 42019 rs370343781 GRCh37: 20:62319118-62319118
GRCh38: 20:63687765-63687765
29 RTEL1-TNFRSF6B , RTEL1 NM_032957.4(RTEL1):c.2686C>T (p.Arg896Ter) SNV Pathogenic/Likely pathogenic 554068 rs961593162 GRCh37: 20:62323152-62323152
GRCh38: 20:63691799-63691799
30 RTEL1-TNFRSF6B , RTEL1 NM_001283009.2(RTEL1):c.901_919+72del Deletion Likely pathogenic 651186 rs1569090870 GRCh37: 20:62305400-62305490
GRCh38: 20:63674047-63674137
31 RTEL1-TNFRSF6B , RTEL1 NM_016434.3(RTEL1):c.1596-1_1596delinsAA Indel Likely pathogenic 639828 rs1601163764 GRCh37: 20:62319491-62319492
GRCh38: 20:63688138-63688139
32 RTEL1-TNFRSF6B , RTEL1 NM_016434.3(RTEL1):c.3652+63_3652+64del Microsatellite Likely pathogenic 656263 rs1363658406 GRCh37: 20:62326893-62326894
GRCh38: 20:63695540-63695541
33 RTEL1-TNFRSF6B , RTEL1 NM_001283009.2(RTEL1):c.2782_2992+170del Deletion Likely pathogenic 949701 GRCh37: 20:62324287-62324806
GRCh38: 20:63692934-63693453
34 RTEL1-TNFRSF6B , RTEL1 NM_032957.4(RTEL1):c.3182-2A>T SNV Likely pathogenic 551868 rs377461417 GRCh37: 20:62326092-62326092
GRCh38: 20:63694739-63694739
35 RTEL1-TNFRSF6B , RTEL1 NM_001283009.2(RTEL1):c.1266+3_1266+80del Deletion Likely pathogenic 858747 GRCh37: 20:62316921-62316998
GRCh38: 20:63685568-63685645
36 RTEL1-TNFRSF6B , RTEL1 NM_001283009.2(RTEL1):c.1191+1G>C SNV Likely pathogenic 957214 GRCh37: 20:62312073-62312073
GRCh38: 20:63680720-63680720
37 RTEL1-TNFRSF6B , RTEL1 NM_001283009.2(RTEL1):c.302-8_303del Deletion Likely pathogenic 967687 GRCh37: 20:62293194-62293203
GRCh38: 20:63661841-63661850
38 RTEL1-TNFRSF6B , RTEL1 NM_001283009.1(RTEL1):c.2444G>T (p.Ser815Ile) SNV Conflicting interpretations of pathogenicity 540960 rs150461578 GRCh37: 20:62322188-62322188
GRCh38: 20:63690835-63690835
39 RTEL1-TNFRSF6B , RTEL1 NM_032957.4(RTEL1):c.3059C>A (p.Pro1020His) SNV Conflicting interpretations of pathogenicity 436594 rs373210484 GRCh37: 20:62324631-62324631
GRCh38: 20:63693278-63693278
40 RTEL1-TNFRSF6B , RTEL1 NM_032957.4(RTEL1):c.2971G>C (p.Val991Leu) SNV Uncertain significance 639594 rs149537474 GRCh37: 20:62324543-62324543
GRCh38: 20:63693190-63693190
41 RTEL1-TNFRSF6B , RTEL1 NM_032957.4(RTEL1):c.3577T>C (p.Ser1193Pro) SNV Uncertain significance 642282 rs143248833 GRCh37: 20:62326686-62326686
GRCh38: 20:63695333-63695333
42 RTEL1-TNFRSF6B , RTEL1 NM_032957.4(RTEL1):c.2779G>A (p.Val927Met) SNV Uncertain significance 646165 rs143317975 GRCh37: 20:62324212-62324212
GRCh38: 20:63692859-63692859
43 RTEL1-TNFRSF6B , RTEL1 NM_032957.4(RTEL1):c.2333G>A (p.Arg778Gln) SNV Uncertain significance 646356 rs141423196 GRCh37: 20:62321559-62321559
GRCh38: 20:63690206-63690206
44 RTEL1-TNFRSF6B , RTEL1 NM_032957.4(RTEL1):c.526A>G (p.Lys176Glu) SNV Uncertain significance 650862 rs1234907654 GRCh37: 20:62293957-62293957
GRCh38: 20:63662604-63662604
45 RTEL1-TNFRSF6B , RTEL1 NM_032957.4(RTEL1):c.610+3A>G SNV Uncertain significance 651744 rs201706459 GRCh37: 20:62294245-62294245
GRCh38: 20:63662892-63662892
46 RTEL1-TNFRSF6B , RTEL1 NM_032957.4(RTEL1):c.2993G>A (p.Arg998Gln) SNV Uncertain significance 652154 rs369716125 GRCh37: 20:62324565-62324565
GRCh38: 20:63693212-63693212
47 RTEL1-TNFRSF6B , RTEL1 NM_032957.4(RTEL1):c.3250G>A (p.Val1084Met) SNV Uncertain significance 652372 rs116768542 GRCh37: 20:62326162-62326162
GRCh38: 20:63694809-63694809
48 RTEL1-TNFRSF6B , RTEL1 NM_032957.4(RTEL1):c.3484C>T (p.Arg1162Trp) SNV Uncertain significance 654387 rs6062495 GRCh37: 20:62326487-62326487
GRCh38: 20:63695134-63695134
49 RTEL1-TNFRSF6B , RTEL1 NM_032957.4(RTEL1):c.3464C>T (p.Thr1155Met) SNV Uncertain significance 656747 rs372852392 GRCh37: 20:62326467-62326467
GRCh38: 20:63695114-63695114
50 RTEL1-TNFRSF6B , RTEL1 NM_032957.4(RTEL1):c.2378G>A (p.Arg793His) SNV Uncertain significance 659476 rs369014080 GRCh37: 20:62321687-62321687
GRCh38: 20:63690334-63690334

UniProtKB/Swiss-Prot genetic disease variations for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3:

72
# Symbol AA change Variation ID SNP ID
1 RTEL1 p.Pro484Leu VAR_073795 rs786205700
2 RTEL1 p.Pro647Leu VAR_073796 rs117709162
3 RTEL1 p.His1124Pro VAR_073797 rs786205702

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, 3.

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

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

Biological processes related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.43 RTEL1-TNFRSF6B RTEL1
2 DNA repair GO:0006281 9.4 RTEL1-TNFRSF6B RTEL1
3 DNA replication GO:0006260 9.37 RTEL1-TNFRSF6B RTEL1
4 DNA recombination GO:0006310 9.32 RTEL1-TNFRSF6B RTEL1
5 DNA duplex unwinding GO:0032508 9.26 RTEL1-TNFRSF6B RTEL1
6 nucleobase-containing compound metabolic process GO:0006139 9.16 RTEL1-TNFRSF6B RTEL1
7 telomere maintenance GO:0000723 8.96 RTEL1-TNFRSF6B RTEL1
8 regulation of double-strand break repair via homologous recombination GO:0010569 8.62 RTEL1-TNFRSF6B RTEL1

Molecular functions related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleic acid binding GO:0003676 9.37 RTEL1-TNFRSF6B RTEL1
2 helicase activity GO:0004386 9.32 RTEL1-TNFRSF6B RTEL1
3 iron-sulfur cluster binding GO:0051536 9.26 RTEL1-TNFRSF6B RTEL1
4 DNA helicase activity GO:0003678 9.16 RTEL1-TNFRSF6B RTEL1
5 4 iron, 4 sulfur cluster binding GO:0051539 8.96 RTEL1-TNFRSF6B RTEL1
6 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 8.62 RTEL1-TNFRSF6B RTEL1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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28 GO
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30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
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71 UMLS via Orphanet
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