MCID: PLM143
MIFTS: 24

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

Categories: Genetic diseases, Bone 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, 3:

Name: Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 57 29 6
Pfbmft3 57 75
Fibrosis, Pulmonary, and/or Bone Marrow Failure, Telomere-Related, Type 3 40
Pulmonary Fibrosis, and/or Bone Marrow Failure, Telomere-Related, 3 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
adult onset
variable manifestations
incomplete penetrance


HPO:

32
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
MeSH 44 D011658
SNOMED-CT via HPO 69 263681008 51615001

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

UniProtKB/Swiss-Prot : 75 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 dyskeratosis congenita autosomal dominant 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, bone marrow and myeloid, and related phenotype is pulmonary fibrosis.

Description from OMIM: 616373

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

Diseases related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita autosomal dominant 8.9 RTEL1 RTEL1-TNFRSF6B
2 dyskeratosis congenita, autosomal recessive 5 8.7 RTEL1 RTEL1-TNFRSF6B TNFRSF6B
3 dyskeratosis congenita autosomal recessive 8.6 RTEL1 RTEL1-TNFRSF6B TNFRSF6B
4 dyskeratosis congenita 8.5 RTEL1 RTEL1-TNFRSF6B TNFRSF6B

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

Symptoms via clinical synopsis from OMIM:

57
Respiratory Lung:
pulmonary fibrosis

Laboratory Abnormalities:
decreased telomere length in lymphocytes


Clinical features from OMIM:

616373

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

32
# Description HPO Frequency HPO Source Accession
1 pulmonary fibrosis 32 HP:0002206

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:

41
Bone, Bone Marrow, Myeloid

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, 3:

75
# Symbol AA change Variation ID SNP ID
1 RTEL1 p.Pro484Leu VAR_073795 rs786205700
2 RTEL1 p.Pro647Leu VAR_073796
3 RTEL1 p.His1124Pro VAR_073797 rs786205702

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

6
(show top 50) (show all 194)
# Gene Variation Type Significance SNP ID Assembly Location
1 RTEL1 RTEL1: c.2402G> A (p.Arg801His) single nucleotide variant Pathogenic/Likely pathogenic rs201540674 GRCh37 Chromosome 20, 62326972: 62326972
2 RTEL1 RTEL1: c.2402G> A (p.Arg801His) single nucleotide variant Pathogenic/Likely pathogenic rs201540674 GRCh38 Chromosome 20, 63695619: 63695619
3 RTEL1 NM_016434.3(RTEL1): c.2920C> T (p.Arg974Ter) single nucleotide variant Pathogenic rs398123017 GRCh37 Chromosome 20, 62324564: 62324564
4 RTEL1 NM_016434.3(RTEL1): c.2920C> T (p.Arg974Ter) single nucleotide variant Pathogenic rs398123017 GRCh38 Chromosome 20, 63693211: 63693211
5 RTEL1 NM_001283009.1(RTEL1): c.602delG (p.Gly201Glufs) deletion Pathogenic rs863223336 GRCh37 Chromosome 20, 62297420: 62297420
6 RTEL1 NM_001283009.1(RTEL1): c.602delG (p.Gly201Glufs) deletion Pathogenic rs863223336 GRCh38 Chromosome 20, 63666067: 63666067
7 RTEL1 NM_032957.4(RTEL1): c.1523C> T (p.Pro508Leu) single nucleotide variant Pathogenic rs786205700 GRCh37 Chromosome 20, 62319093: 62319093
8 RTEL1 NM_032957.4(RTEL1): c.1523C> T (p.Pro508Leu) single nucleotide variant Pathogenic rs786205700 GRCh38 Chromosome 20, 63687740: 63687740
9 RTEL1 NM_032957.4(RTEL1): c.3443A> C (p.His1148Pro) single nucleotide variant Pathogenic rs786205702 GRCh37 Chromosome 20, 62326446: 62326446
10 RTEL1 NM_032957.4(RTEL1): c.3443A> C (p.His1148Pro) single nucleotide variant Pathogenic rs786205702 GRCh38 Chromosome 20, 63695093: 63695093
11 RTEL1 NM_032957.4(RTEL1): c.2618G> A (p.Gly873Asp) single nucleotide variant Benign/Likely benign rs190887884 GRCh38 Chromosome 20, 63690937: 63690937
12 RTEL1 NM_032957.4(RTEL1): c.2618G> A (p.Gly873Asp) single nucleotide variant Benign/Likely benign rs190887884 GRCh37 Chromosome 20, 62322290: 62322290
13 RTEL1 NM_001283009.1(RTEL1): c.2219_2227delATGTCATCC (p.His740_Ile742del) deletion Pathogenic rs863225053 GRCh37 Chromosome 20, 62321517: 62321525
14 RTEL1 NM_001283009.1(RTEL1): c.2219_2227delATGTCATCC (p.His740_Ile742del) deletion Pathogenic rs863225053 GRCh38 Chromosome 20, 63690164: 63690172
15 RTEL1 NM_016434.3(RTEL1): c.2413+1G> C single nucleotide variant Pathogenic/Likely pathogenic rs776744306 GRCh38 Chromosome 20, 63690442: 63690442
16 RTEL1 NM_016434.3(RTEL1): c.2413+1G> C single nucleotide variant Pathogenic/Likely pathogenic rs776744306 GRCh37 Chromosome 20, 62321795: 62321795
17 RTEL1 NM_016434.3(RTEL1): c.2957G> A (p.Arg986Gln) single nucleotide variant Pathogenic rs146221660 GRCh38 Chromosome 20, 63693248: 63693248
18 RTEL1 NM_016434.3(RTEL1): c.2957G> A (p.Arg986Gln) single nucleotide variant Pathogenic rs146221660 GRCh37 Chromosome 20, 62324601: 62324601
19 RTEL1 NM_032957.4(RTEL1): c.2077C> T (p.Gln693Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 62320981: 62320981
20 RTEL1 NM_032957.4(RTEL1): c.2077C> T (p.Gln693Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 63689628: 63689628
21 RTEL1 NM_032957.4(RTEL1): c.245C> T (p.Pro82Leu) single nucleotide variant Uncertain significance rs143461704 GRCh37 Chromosome 20, 62292793: 62292793
22 RTEL1 NM_032957.4(RTEL1): c.245C> T (p.Pro82Leu) single nucleotide variant Uncertain significance rs143461704 GRCh38 Chromosome 20, 63661440: 63661440
23 RTEL1 NM_032957.4(RTEL1): c.431C> T (p.Thr144Ile) single nucleotide variant Likely benign rs41297642 GRCh37 Chromosome 20, 62293862: 62293862
24 RTEL1 NM_032957.4(RTEL1): c.431C> T (p.Thr144Ile) single nucleotide variant Likely benign rs41297642 GRCh38 Chromosome 20, 63662509: 63662509
25 RTEL1 NM_001283009.1(RTEL1): c.973C> T (p.Leu325=) single nucleotide variant Conflicting interpretations of pathogenicity rs142739953 GRCh37 Chromosome 20, 62309635: 62309635
26 RTEL1 NM_001283009.1(RTEL1): c.973C> T (p.Leu325=) single nucleotide variant Conflicting interpretations of pathogenicity rs142739953 GRCh38 Chromosome 20, 63678282: 63678282
27 RTEL1 NM_032957.4(RTEL1): c.1332C> T (p.Ser444=) single nucleotide variant Benign/Likely benign rs188479221 GRCh38 Chromosome 20, 63685591: 63685591
28 RTEL1 NM_032957.4(RTEL1): c.1332C> T (p.Ser444=) single nucleotide variant Benign/Likely benign rs188479221 GRCh37 Chromosome 20, 62316944: 62316944
29 RTEL1 NM_001283009.1(RTEL1): c.1349-9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs772899702 GRCh38 Chromosome 20, 63687629: 63687629
30 RTEL1 NM_001283009.1(RTEL1): c.1349-9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs772899702 GRCh37 Chromosome 20, 62318982: 62318982
31 RTEL1 NM_001283009.1(RTEL1): c.1727G> A (p.Arg576His) single nucleotide variant Benign rs115423936 GRCh37 Chromosome 20, 62319885: 62319885
32 RTEL1 NM_001283009.1(RTEL1): c.1727G> A (p.Arg576His) single nucleotide variant Benign rs115423936 GRCh38 Chromosome 20, 63688532: 63688532
33 RTEL1 NM_032957.4(RTEL1): c.1833G> A (p.Pro611=) single nucleotide variant Benign rs116900568 GRCh37 Chromosome 20, 62319919: 62319919
34 RTEL1 NM_032957.4(RTEL1): c.1833G> A (p.Pro611=) single nucleotide variant Benign rs116900568 GRCh38 Chromosome 20, 63688566: 63688566
35 RTEL1 NM_032957.4(RTEL1): c.2385_2387delAGA (p.Glu795del) deletion Benign/Likely benign rs558133631 GRCh38 Chromosome 20, 63690341: 63690343
36 RTEL1 NM_032957.4(RTEL1): c.2385_2387delAGA (p.Glu795del) deletion Benign/Likely benign rs558133631 GRCh37 Chromosome 20, 62321694: 62321696
37 RTEL1 NM_032957.4(RTEL1): c.2672C> T (p.Pro891Leu) single nucleotide variant Uncertain significance rs139083375 GRCh38 Chromosome 20, 63691785: 63691785
38 RTEL1 NM_032957.4(RTEL1): c.2672C> T (p.Pro891Leu) single nucleotide variant Uncertain significance rs139083375 GRCh37 Chromosome 20, 62323138: 62323138
39 RTEL1 NM_032957.4(RTEL1): c.2847C> T (p.Ser949=) single nucleotide variant Benign/Likely benign rs12480346 GRCh38 Chromosome 20, 63692927: 63692927
40 RTEL1 NM_032957.4(RTEL1): c.2847C> T (p.Ser949=) single nucleotide variant Benign/Likely benign rs12480346 GRCh37 Chromosome 20, 62324280: 62324280
41 RTEL1 NM_032957.4(RTEL1): c.2970G> C (p.Glu990Asp) single nucleotide variant Benign/Likely benign rs115464632 GRCh37 Chromosome 20, 62324542: 62324542
42 RTEL1 NM_032957.4(RTEL1): c.2970G> C (p.Glu990Asp) single nucleotide variant Benign/Likely benign rs115464632 GRCh38 Chromosome 20, 63693189: 63693189
43 RTEL1 NM_001283009.1(RTEL1): c.2975C> T (p.Pro992Leu) single nucleotide variant Likely benign rs143967591 GRCh37 Chromosome 20, 62324619: 62324619
44 RTEL1 NM_001283009.1(RTEL1): c.2975C> T (p.Pro992Leu) single nucleotide variant Likely benign rs143967591 GRCh38 Chromosome 20, 63693266: 63693266
45 RTEL1 NM_032957.4(RTEL1): c.3128A> G (p.Gln1043Arg) single nucleotide variant Benign rs116053476 GRCh37 Chromosome 20, 62325788: 62325788
46 RTEL1 NM_032957.4(RTEL1): c.3128A> G (p.Gln1043Arg) single nucleotide variant Benign rs116053476 GRCh38 Chromosome 20, 63694435: 63694435
47 RTEL1 NM_032957.4(RTEL1): c.3484C> A (p.Arg1162=) single nucleotide variant Benign rs6062495 GRCh37 Chromosome 20, 62326487: 62326487
48 RTEL1 NM_032957.4(RTEL1): c.3484C> A (p.Arg1162=) single nucleotide variant Benign rs6062495 GRCh38 Chromosome 20, 63695134: 63695134
49 RTEL1 NM_032957.4(RTEL1): c.3724+41G> A single nucleotide variant Conflicting interpretations of pathogenicity rs181080831 GRCh37 Chromosome 20, 62326874: 62326874
50 RTEL1 NM_032957.4(RTEL1): c.3724+41G> A single nucleotide variant Conflicting interpretations of pathogenicity rs181080831 GRCh38 Chromosome 20, 63695521: 63695521

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 RTEL1-TNFRSF6B
2 DNA repair GO:0006281 9.4 RTEL1 RTEL1-TNFRSF6B
3 DNA replication GO:0006260 9.37 RTEL1 RTEL1-TNFRSF6B
4 DNA recombination GO:0006310 9.32 RTEL1 RTEL1-TNFRSF6B
5 nucleobase-containing compound metabolic process GO:0006139 9.26 RTEL1 RTEL1-TNFRSF6B
6 DNA duplex unwinding GO:0032508 9.16 RTEL1 RTEL1-TNFRSF6B
7 telomere maintenance GO:0000723 8.96 RTEL1 RTEL1-TNFRSF6B
8 regulation of double-strand break repair via homologous recombination GO:0010569 8.62 RTEL1 RTEL1-TNFRSF6B

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 helicase activity GO:0004386 9.37 RTEL1 RTEL1-TNFRSF6B
2 iron-sulfur cluster binding GO:0051536 9.32 RTEL1 RTEL1-TNFRSF6B
3 4 iron, 4 sulfur cluster binding GO:0051539 9.26 RTEL1 RTEL1-TNFRSF6B
4 ATP-dependent DNA helicase activity GO:0004003 9.16 RTEL1 RTEL1-TNFRSF6B
5 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 8.96 RTEL1 RTEL1-TNFRSF6B
6 ATP-dependent helicase activity GO:0008026 8.62 RTEL1 RTEL1-TNFRSF6B

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

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