PFBMFT4
MCID: PLM141
MIFTS: 17

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

Categories: Bone diseases, Cancer diseases, Genetic 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, 4:

Name: Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 57 29 6
Pfbmft4 57 75
Fibrosis, Pulmonary, and/or Bone Marrow Failure, Telomere-Related, Type 4 40
Pulmonary Fibrosis, and/or Bone Marrow Failure, Telomere-Related, 4 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
adult onset
incomplete penetrance
variable manifestations


HPO:

32
pulmonary fibrosis and/or bone marrow failure, telomere-related, 4:
Onset and clinical course adult onset incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616371
MeSH 44 D011658

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

UniProtKB/Swiss-Prot : 75 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, bone marrow and myeloid, and related phenotypes are pulmonary fibrosis and bone marrow hypocellularity

Description from OMIM: 616371

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

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 pulmonary fibrosis 32 HP:0002206
2 bone marrow hypocellularity 32 HP:0005528
3 premature graying of hair 32 occasional (7.5%) HP:0002216

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:

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, 4:

75
# Symbol AA change Variation ID SNP ID
1 PARN p.Lys421Arg VAR_073783 rs777090017

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

6 (show all 48)
# Gene Variation Type Significance SNP ID Assembly Location
1 PARN NM_002582.3(PARN): c.246-2A> G single nucleotide variant Pathogenic rs751381953 GRCh37 Chromosome 16, 14721046: 14721046
2 PARN NM_002582.3(PARN): c.246-2A> G single nucleotide variant Pathogenic rs751381953 GRCh38 Chromosome 16, 14627189: 14627189
3 PARN NM_002582.3(PARN): c.529C> T (p.Gln177Ter) single nucleotide variant Pathogenic rs876661305 GRCh37 Chromosome 16, 14704526: 14704526
4 PARN NM_002582.3(PARN): c.529C> T (p.Gln177Ter) single nucleotide variant Pathogenic rs876661305 GRCh38 Chromosome 16, 14610669: 14610669
5 PARN NM_002582.3(PARN): c.563dupT (p.Glu189Argfs) duplication Pathogenic rs878853260 GRCh38 Chromosome 16, 14609115: 14609115
6 PARN NM_002582.3(PARN): c.563dupT (p.Glu189Argfs) duplication Pathogenic rs878853260 GRCh37 Chromosome 16, 14702972: 14702972
7 PARN NM_002582.3(PARN): c.1262A> G (p.Lys421Arg) single nucleotide variant Pathogenic rs777090017 GRCh37 Chromosome 16, 14674731: 14674731
8 PARN NM_002582.3(PARN): c.1262A> G (p.Lys421Arg) single nucleotide variant Pathogenic rs777090017 GRCh38 Chromosome 16, 14580874: 14580874
9 PARN NM_002582.3(PARN): c.1741G> A (p.Gly581Arg) single nucleotide variant Benign rs75007073 GRCh38 Chromosome 16, 14447011: 14447011
10 PARN NM_002582.3(PARN): c.1741G> A (p.Gly581Arg) single nucleotide variant Benign rs75007073 GRCh37 Chromosome 16, 14540868: 14540868
11 PARN NM_002582.3(PARN): c.1690G> A (p.Val564Ile) single nucleotide variant Benign rs35722504 GRCh38 Chromosome 16, 14447062: 14447062
12 PARN NM_002582.3(PARN): c.1690G> A (p.Val564Ile) single nucleotide variant Benign rs35722504 GRCh37 Chromosome 16, 14540919: 14540919
13 PARN NM_002582.3(PARN): c.1613G> C (p.Arg538Pro) single nucleotide variant Uncertain significance rs377199187 GRCh37 Chromosome 16, 14576552: 14576552
14 PARN NM_002582.3(PARN): c.1613G> C (p.Arg538Pro) single nucleotide variant Uncertain significance rs377199187 GRCh38 Chromosome 16, 14482695: 14482695
15 PARN NM_002582.3(PARN): c.1102A> T (p.Ser368Cys) single nucleotide variant Benign/Likely benign rs138984302 GRCh38 Chromosome 16, 14582271: 14582271
16 PARN NM_002582.3(PARN): c.1102A> T (p.Ser368Cys) single nucleotide variant Benign/Likely benign rs138984302 GRCh37 Chromosome 16, 14676128: 14676128
17 PARN NM_002582.3(PARN): c.840+6delT deletion Benign/Likely benign rs531994703 GRCh38 Chromosome 16, 14599898: 14599898
18 PARN NM_002582.3(PARN): c.840+6delT deletion Benign/Likely benign rs531994703 GRCh37 Chromosome 16, 14693755: 14693755
19 PARN NM_002582.3(PARN): c.1383T> C (p.Leu461=) single nucleotide variant Benign rs143472178 GRCh38 Chromosome 16, 14554087: 14554087
20 PARN NM_002582.3(PARN): c.1383T> C (p.Leu461=) single nucleotide variant Benign rs143472178 GRCh37 Chromosome 16, 14647944: 14647944
21 PARN NM_002582.3(PARN): c.1406-9C> T single nucleotide variant Likely benign rs530099133 GRCh38 Chromosome 16, 14552104: 14552104
22 PARN NM_002582.3(PARN): c.1406-9C> T single nucleotide variant Likely benign rs530099133 GRCh37 Chromosome 16, 14645961: 14645961
23 PARN NM_002582.3(PARN): c.1377C> T (p.Ser459=) single nucleotide variant Likely benign rs530411927 GRCh37 Chromosome 16, 14647950: 14647950
24 PARN NM_002582.3(PARN): c.1377C> T (p.Ser459=) single nucleotide variant Likely benign rs530411927 GRCh38 Chromosome 16, 14554093: 14554093
25 PARN NM_002582.3(PARN): c.1491C> T (p.Thr497=) single nucleotide variant Likely benign rs750683123 GRCh38 Chromosome 16, 14482817: 14482817
26 PARN NM_002582.3(PARN): c.1491C> T (p.Thr497=) single nucleotide variant Likely benign rs750683123 GRCh37 Chromosome 16, 14576674: 14576674
27 PARN NM_002582.3(PARN): c.1843A> G (p.Lys615Glu) single nucleotide variant Uncertain significance rs368440052 GRCh38 Chromosome 16, 14446909: 14446909
28 PARN NM_002582.3(PARN): c.1843A> G (p.Lys615Glu) single nucleotide variant Uncertain significance rs368440052 GRCh37 Chromosome 16, 14540766: 14540766
29 PARN NM_002582.3(PARN): c.465T> C (p.Gly155=) single nucleotide variant Likely benign GRCh37 Chromosome 16, 14704590: 14704590
30 PARN NM_002582.3(PARN): c.465T> C (p.Gly155=) single nucleotide variant Likely benign GRCh38 Chromosome 16, 14610733: 14610733
31 PARN NM_002582.3(PARN): c.272A> G (p.Tyr91Cys) single nucleotide variant Uncertain significance rs201765587 GRCh37 Chromosome 16, 14721018: 14721018
32 PARN NM_002582.3(PARN): c.272A> G (p.Tyr91Cys) single nucleotide variant Uncertain significance rs201765587 GRCh38 Chromosome 16, 14627161: 14627161
33 PARN NM_002582.3(PARN): c.210C> A (p.Gly70=) single nucleotide variant Likely benign rs748166497 GRCh37 Chromosome 16, 14721161: 14721161
34 PARN NM_002582.3(PARN): c.210C> A (p.Gly70=) single nucleotide variant Likely benign rs748166497 GRCh38 Chromosome 16, 14627304: 14627304
35 PARN NM_002582.3(PARN): c.1263-8T> G single nucleotide variant Benign rs182460499 GRCh37 Chromosome 16, 14649574: 14649574
36 PARN NM_002582.3(PARN): c.1263-8T> G single nucleotide variant Benign rs182460499 GRCh38 Chromosome 16, 14555717: 14555717
37 PARN NM_002582.3(PARN): c.703-6T> C single nucleotide variant Likely benign rs370304152 GRCh37 Chromosome 16, 14698089: 14698089
38 PARN NM_002582.3(PARN): c.703-6T> C single nucleotide variant Likely benign rs370304152 GRCh38 Chromosome 16, 14604232: 14604232
39 PARN NM_002582.3(PARN): c.466G> T (p.Ala156Ser) single nucleotide variant Uncertain significance rs200103366 GRCh38 Chromosome 16, 14610732: 14610732
40 PARN NM_002582.3(PARN): c.466G> T (p.Ala156Ser) single nucleotide variant Uncertain significance rs200103366 GRCh37 Chromosome 16, 14704589: 14704589
41 PARN NM_002582.3(PARN): c.271T> A (p.Tyr91Asn) single nucleotide variant Uncertain significance rs764315291 GRCh37 Chromosome 16, 14721019: 14721019
42 PARN NM_002582.3(PARN): c.271T> A (p.Tyr91Asn) single nucleotide variant Uncertain significance rs764315291 GRCh38 Chromosome 16, 14627162: 14627162
43 PARN NM_002582.3(PARN): c.1785T> G (p.Asp595Glu) single nucleotide variant Uncertain significance rs200434143 GRCh37 Chromosome 16, 14540824: 14540824
44 PARN NM_002582.3(PARN): c.1785T> G (p.Asp595Glu) single nucleotide variant Uncertain significance rs200434143 GRCh38 Chromosome 16, 14446967: 14446967
45 PARN NM_002582.3(PARN): c.7A> G (p.Ile3Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 14630119: 14630119
46 PARN NM_002582.3(PARN): c.7A> G (p.Ile3Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 14723976: 14723976
47 PARN NM_002582.3(PARN): c.1697A> G (p.Lys566Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 14540912: 14540912
48 PARN NM_002582.3(PARN): c.1697A> G (p.Lys566Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 14447055: 14447055

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

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

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