MCID: PLM141
MIFTS: 17

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

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, 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
variable manifestations
incomplete penetrance


HPO:

32
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
MeSH 44 D011658
SNOMED-CT via HPO 69 263681008 51615001 387833009

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 marrow, bone and myeloid, and related phenotypes are pulmonary fibrosis and premature graying of hair

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

Laboratory Abnormalities:
decreased telomere length in lymphocytes

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


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 premature graying of hair 32 occasional (7.5%) HP:0002216
3 bone marrow hypocellularity 32 HP:0005528

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 Marrow, Bone, 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 36)
# 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 GRCh37 Chromosome 16, 14540868: 14540868
10 PARN NM_002582.3(PARN): c.1741G> A (p.Gly581Arg) single nucleotide variant Benign rs75007073 GRCh38 Chromosome 16, 14447011: 14447011
11 PARN NM_002582.3(PARN): c.1690G> A (p.Val564Ile) single nucleotide variant Benign rs35722504 GRCh37 Chromosome 16, 14540919: 14540919
12 PARN NM_002582.3(PARN): c.1690G> A (p.Val564Ile) single nucleotide variant Benign rs35722504 GRCh38 Chromosome 16, 14447062: 14447062
13 PARN NM_002582.3(PARN): c.1102A> T (p.Ser368Cys) single nucleotide variant Benign/Likely benign rs138984302 GRCh38 Chromosome 16, 14582271: 14582271
14 PARN NM_002582.3(PARN): c.1102A> T (p.Ser368Cys) single nucleotide variant Benign/Likely benign rs138984302 GRCh37 Chromosome 16, 14676128: 14676128
15 PARN NM_002582.3(PARN): c.840+6delT deletion Benign/Likely benign rs531994703 GRCh38 Chromosome 16, 14599898: 14599898
16 PARN NM_002582.3(PARN): c.840+6delT deletion Benign/Likely benign rs531994703 GRCh37 Chromosome 16, 14693755: 14693755
17 PARN NM_002582.3(PARN): c.1383T> C (p.Leu461=) single nucleotide variant Benign rs143472178 GRCh38 Chromosome 16, 14554087: 14554087
18 PARN NM_002582.3(PARN): c.1383T> C (p.Leu461=) single nucleotide variant Benign rs143472178 GRCh37 Chromosome 16, 14647944: 14647944
19 PARN NM_002582.3(PARN): c.1406-9C> T single nucleotide variant Likely benign rs530099133 GRCh38 Chromosome 16, 14552104: 14552104
20 PARN NM_002582.3(PARN): c.1406-9C> T single nucleotide variant Likely benign rs530099133 GRCh37 Chromosome 16, 14645961: 14645961
21 PARN NM_002582.3(PARN): c.1377C> T (p.Ser459=) single nucleotide variant Likely benign rs530411927 GRCh37 Chromosome 16, 14647950: 14647950
22 PARN NM_002582.3(PARN): c.1377C> T (p.Ser459=) single nucleotide variant Likely benign rs530411927 GRCh38 Chromosome 16, 14554093: 14554093
23 PARN NM_002582.3(PARN): c.1491C> T (p.Thr497=) single nucleotide variant Likely benign rs750683123 GRCh38 Chromosome 16, 14482817: 14482817
24 PARN NM_002582.3(PARN): c.1491C> T (p.Thr497=) single nucleotide variant Likely benign rs750683123 GRCh37 Chromosome 16, 14576674: 14576674
25 PARN NM_002582.3(PARN): c.1843A> G (p.Lys615Glu) single nucleotide variant Uncertain significance rs368440052 GRCh38 Chromosome 16, 14446909: 14446909
26 PARN NM_002582.3(PARN): c.1843A> G (p.Lys615Glu) single nucleotide variant Uncertain significance rs368440052 GRCh37 Chromosome 16, 14540766: 14540766
27 PARN NM_002582.3(PARN): c.465T> C (p.Gly155=) single nucleotide variant Likely benign GRCh38 Chromosome 16, 14610733: 14610733
28 PARN NM_002582.3(PARN): c.465T> C (p.Gly155=) single nucleotide variant Likely benign GRCh37 Chromosome 16, 14704590: 14704590
29 PARN NM_002582.3(PARN): c.272A> G (p.Tyr91Cys) single nucleotide variant Uncertain significance rs201765587 GRCh37 Chromosome 16, 14721018: 14721018
30 PARN NM_002582.3(PARN): c.272A> G (p.Tyr91Cys) single nucleotide variant Uncertain significance rs201765587 GRCh38 Chromosome 16, 14627161: 14627161
31 PARN NM_002582.3(PARN): c.210C> A (p.Gly70=) single nucleotide variant Likely benign rs748166497 GRCh38 Chromosome 16, 14627304: 14627304
32 PARN NM_002582.3(PARN): c.210C> A (p.Gly70=) single nucleotide variant Likely benign rs748166497 GRCh37 Chromosome 16, 14721161: 14721161
33 PARN NM_002582.3(PARN): c.1263-8T> G single nucleotide variant Benign rs182460499 GRCh38 Chromosome 16, 14555717: 14555717
34 PARN NM_002582.3(PARN): c.1263-8T> G single nucleotide variant Benign rs182460499 GRCh37 Chromosome 16, 14649574: 14649574
35 PARN NM_002582.3(PARN): c.703-6T> C single nucleotide variant Likely benign rs370304152 GRCh38 Chromosome 16, 14604232: 14604232
36 PARN NM_002582.3(PARN): c.703-6T> C single nucleotide variant Likely benign rs370304152 GRCh37 Chromosome 16, 14698089: 14698089

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,...

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