PFBMFT4
MCID: PLM141
MIFTS: 25

Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 (PFBMFT4)

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, 4:

Name: Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 57 29 6
Pfbmft4 57 72
Fibrosis, Pulmonary, and/or Bone Marrow Failure, Telomere-Related, Type 4 39
Pulmonary Fibrosis, and/or Bone Marrow Failure, Telomere-Related, 4 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, 4:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset incomplete penetrance


Classifications:



External Ids:

OMIM® 57 616371
OMIM Phenotypic Series 57 PS614742
MeSH 44 D011658

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

UniProtKB/Swiss-Prot : 72 Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 4: 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, 4, is also known as pfbmft4. An important gene associated with Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 is PARN (Poly(A)-Specific Ribonuclease). Affiliated tissues include bone marrow, bone and myeloid, and related phenotypes are premature graying of hair and decreased dlco

More information from OMIM: 616371 PS614742

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

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, 4:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 premature graying of hair 31 occasional (7.5%) HP:0002216
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 pulmonary fibrosis 31 HP:0002206
6 cough 31 HP:0012735
7 honeycomb lung 31 HP:0025175
8 short telomere length 31 HP:0031413

Symptoms via clinical synopsis from OMIM®:

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

Skin Nails Hair Hair:
premature graying of the hair (in some patients)

Laboratory Abnormalities:
decreased telomere length in lymphocytes

Clinical features from OMIM®:

616371 (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, 4

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, 4:

# Genetic test Affiliating Genes
1 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 29 PARN

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, 4:

40
Bone Marrow, Bone, Myeloid, Lung

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

Articles related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4:

# 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
From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants. 6
31448843 2019
3
An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis. 6
28099038 2017
4
Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up. 6
26810774 2016
5
The deadenylating nuclease (DAN) is involved in poly(A) tail removal during the meiotic maturation of Xenopus oocytes. 6
9736620 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, 4:

6 (show top 50) (show all 134)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PARN NM_002582.4(PARN):c.246-2A>G SNV Pathogenic 190468 rs751381953 GRCh37: 16:14721046-14721046
GRCh38: 16:14627189-14627189
2 PARN NM_002582.4(PARN):c.1262A>G (p.Lys421Arg) SNV Pathogenic 190471 rs777090017 GRCh37: 16:14674731-14674731
GRCh38: 16:14580874-14580874
3 PARN NC_000016.9:g.(?_14725823)_(14643928_?)del Deletion Pathogenic 974597 GRCh37:
GRCh38:
4 PARN NM_002582.4(PARN):c.529C>T (p.Gln177Ter) SNV Pathogenic 190469 rs876661305 GRCh37: 16:14704526-14704526
GRCh38: 16:14610669-14610669
5 PARN NM_002582.4(PARN):c.563dup (p.Glu189fs) Duplication Pathogenic 190470 rs878853260 GRCh37: 16:14702971-14702972
GRCh38: 16:14609114-14609115
6 PARN NM_002582.4(PARN):c.272A>G (p.Tyr91Cys) SNV Pathogenic 542669 rs201765587 GRCh37: 16:14721018-14721018
GRCh38: 16:14627161-14627161
7 PARN NM_002582.4(PARN):c.563dup (p.Glu189fs) Duplication Pathogenic 190470 rs878853260 GRCh37: 16:14702971-14702972
GRCh38: 16:14609114-14609115
8 PARN NM_002582.4(PARN):c.1124_1133del (p.Gln375fs) Deletion Pathogenic 835748 GRCh37: 16:14676097-14676106
GRCh38: 16:14582240-14582249
9 PARN NM_002582.4(PARN):c.657G>A (p.Trp219Ter) SNV Pathogenic 857552 GRCh37: 16:14702140-14702140
GRCh38: 16:14608283-14608283
10 PARN NM_002582.4(PARN):c.709C>T (p.Arg237Ter) SNV Pathogenic 933700 GRCh37: 16:14698077-14698077
GRCh38: 16:14604220-14604220
11 PARN NM_002582.4(PARN):c.709C>T (p.Arg237Ter) SNV Pathogenic 933700 GRCh37: 16:14698077-14698077
GRCh38: 16:14604220-14604220
12 PARN NM_002582.4(PARN):c.713dup (p.Tyr238Ter) Duplication Pathogenic 956648 GRCh37: 16:14698072-14698073
GRCh38: 16:14604215-14604216
13 PARN NM_002582.4(PARN):c.1670+1G>T SNV Likely pathogenic 945611 GRCh37: 16:14576494-14576494
GRCh38: 16:14482637-14482637
14 PARN NM_002582.4(PARN):c.1749_1750del (p.Glu585fs) Deletion Likely pathogenic 977495 GRCh37: 16:14540859-14540860
GRCh38: 16:14447002-14447003
15 PARN NM_002582.4(PARN):c.1006-2A>G SNV Likely pathogenic 870491 GRCh37: 16:14678281-14678281
GRCh38: 16:14584424-14584424
16 PARN NM_002582.4(PARN):c.784-170_840+174del Deletion Likely pathogenic 973098 GRCh37: 16:14693587-14693987
GRCh38: 16:14599730-14600130
17 PARN NM_002582.4(PARN):c.1067A>G (p.Asn356Ser) SNV Uncertain significance 981524 GRCh37: 16:14678218-14678218
GRCh38: 16:14584361-14584361
18 PARN NM_002582.4(PARN):c.245A>G (p.Lys82Arg) SNV Uncertain significance 988015 GRCh37: 16:14721126-14721126
GRCh38: 16:14627269-14627269
19 PARN NM_002582.4(PARN):c.1843A>G (p.Lys615Glu) SNV Uncertain significance 542670 rs368440052 GRCh37: 16:14540766-14540766
GRCh38: 16:14446909-14446909
20 PARN NM_002582.4(PARN):c.1785T>G (p.Asp595Glu) SNV Uncertain significance 581798 rs200434143 GRCh37: 16:14540824-14540824
GRCh38: 16:14446967-14446967
21 PARN NM_002582.4(PARN):c.1697A>G (p.Lys566Arg) SNV Uncertain significance 582194 rs1567284498 GRCh37: 16:14540912-14540912
GRCh38: 16:14447055-14447055
22 PARN NM_002582.4(PARN):c.853A>G (p.Ile285Val) SNV Uncertain significance 639688 rs376031010 GRCh37: 16:14687223-14687223
GRCh38: 16:14593366-14593366
23 PARN NM_002582.4(PARN):c.1493G>A (p.Ser498Asn) SNV Uncertain significance 640742 rs200471459 GRCh37: 16:14576672-14576672
GRCh38: 16:14482815-14482815
24 PARN NM_002582.4(PARN):c.924A>C (p.Leu308Phe) SNV Uncertain significance 643824 rs1336426171 GRCh37: 16:14680213-14680213
GRCh38: 16:14586356-14586356
25 PARN NM_002582.4(PARN):c.1842G>A (p.Met614Ile) SNV Uncertain significance 650846 rs913617123 GRCh37: 16:14540767-14540767
GRCh38: 16:14446910-14446910
26 PARN NM_002582.4(PARN):c.1351A>G (p.Thr451Ala) SNV Uncertain significance 651929 rs984383174 GRCh37: 16:14647976-14647976
GRCh38: 16:14554119-14554119
27 PARN NM_002582.4(PARN):c.1661G>A (p.Arg554His) SNV Uncertain significance 652926 rs372489171 GRCh37: 16:14576504-14576504
GRCh38: 16:14482647-14482647
28 PARN NM_002582.4(PARN):c.702+5C>T SNV Uncertain significance 653186 rs368739970 GRCh37: 16:14700336-14700336
GRCh38: 16:14606479-14606479
29 PARN NM_002582.4(PARN):c.407A>T (p.Gln136Leu) SNV Uncertain significance 653970 rs374762200 GRCh37: 16:14704648-14704648
GRCh38: 16:14610791-14610791
30 PARN NM_002582.4(PARN):c.1789T>C (p.Cys597Arg) SNV Uncertain significance 654763 rs1596433239 GRCh37: 16:14540820-14540820
GRCh38: 16:14446963-14446963
31 PARN NM_002582.4(PARN):c.449G>A (p.Arg150His) SNV Uncertain significance 654928 rs755153974 GRCh37: 16:14704606-14704606
GRCh38: 16:14610749-14610749
32 PARN NM_002582.4(PARN):c.1297C>G (p.Leu433Val) SNV Uncertain significance 658043 rs201782700 GRCh37: 16:14649532-14649532
GRCh38: 16:14555675-14555675
33 PARN NM_002582.4(PARN):c.1405+3A>G SNV Uncertain significance 661001 rs368839652 GRCh37: 16:14647919-14647919
GRCh38: 16:14554062-14554062
34 PARN NM_002582.4(PARN):c.1219C>G (p.His407Asp) SNV Uncertain significance 662466 rs1596738260 GRCh37: 16:14674774-14674774
GRCh38: 16:14580917-14580917
35 PARN NM_002582.4(PARN):c.1501G>T (p.Ala501Ser) SNV Uncertain significance 662569 rs199651788 GRCh37: 16:14576664-14576664
GRCh38: 16:14482807-14482807
36 PARN NM_002582.4(PARN):c.34C>T (p.Leu12Phe) SNV Uncertain significance 663050 rs777848795 GRCh37: 16:14723517-14723517
GRCh38: 16:14629660-14629660
37 PARN NM_002582.4(PARN):c.1650T>A (p.Asn550Lys) SNV Uncertain significance 665885 rs1368350204 GRCh37: 16:14576515-14576515
GRCh38: 16:14482658-14482658
38 PARN NM_002582.4(PARN):c.665C>G (p.Pro222Arg) SNV Uncertain significance 858476 GRCh37: 16:14700378-14700378
GRCh38: 16:14606521-14606521
39 PARN NM_002582.4(PARN):c.434A>C (p.Gln145Pro) SNV Uncertain significance 859599 GRCh37: 16:14704621-14704621
GRCh38: 16:14610764-14610764
40 PARN NM_002582.4(PARN):c.19+4C>T SNV Uncertain significance 862329 GRCh37: 16:14723960-14723960
GRCh38: 16:14630103-14630103
41 PARN NM_002582.4(PARN):c.1297C>G (p.Leu433Val) SNV Uncertain significance 658043 rs201782700 GRCh37: 16:14649532-14649532
GRCh38: 16:14555675-14555675
42 PARN NC_000016.10:g.(?_14436697)_(14609143_?)dup Duplication Uncertain significance 831172 GRCh37: 16:14530554-14703000
GRCh38:
43 PARN NM_002582.4(PARN):c.1381C>G (p.Leu461Val) SNV Uncertain significance 838129 GRCh37: 16:14647946-14647946
GRCh38: 16:14554089-14554089
44 PARN NM_002582.4(PARN):c.917C>T (p.Ala306Val) SNV Uncertain significance 844990 GRCh37: 16:14687159-14687159
GRCh38: 16:14593302-14593302
45 PARN NM_002582.4(PARN):c.573A>T (p.Leu191Phe) SNV Uncertain significance 846723 GRCh37: 16:14702962-14702962
GRCh38: 16:14609105-14609105
46 PARN NM_002582.4(PARN):c.1171A>G (p.Ile391Val) SNV Uncertain significance 846746 GRCh37: 16:14676059-14676059
GRCh38: 16:14582202-14582202
47 PARN NM_002582.4(PARN):c.1762G>T (p.Asp588Tyr) SNV Uncertain significance 848576 GRCh37: 16:14540847-14540847
GRCh38: 16:14446990-14446990
48 PARN NM_002582.4(PARN):c.1891A>G (p.Thr631Ala) SNV Uncertain significance 853379 GRCh37: 16:14530603-14530603
GRCh38: 16:14436746-14436746
49 PARN NM_002582.4(PARN):c.1458C>G (p.Ser486Arg) SNV Uncertain significance 853818 GRCh37: 16:14645900-14645900
GRCh38: 16:14552043-14552043
50 PARN NM_002582.4(PARN):c.383G>A (p.Arg128Gln) SNV Uncertain significance 854744 GRCh37: 16:14711452-14711452
GRCh38: 16:14617595-14617595

UniProtKB/Swiss-Prot genetic disease variations for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4:

72
# Symbol AA change Variation ID SNP ID
1 PARN p.Lys421Arg VAR_073783 rs777090017

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, 4.

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,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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