PFBMFT5
MCID: PLM195
MIFTS: 16

Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5 (PFBMFT5)

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, 5:

Name: Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5 56 29 6
Pulmonary Fibrosis, and/or Bone Marrow Failure, Telomere-Related, 5 73 17
Pfbmft5 56 73

Characteristics:

OMIM:

56
Miscellaneous:
adult onset
one family has been reported (last curated november 2019)

Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM 56 618674
OMIM Phenotypic Series 56 PS614742
MeSH 43 D011658
MedGen 41 CN262924

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

UniProtKB/Swiss-Prot : 73 Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5: 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. PFBMFT5 inheritance is autosomal dominant.

MalaCards based summary : Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5, is also known as pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5. An important gene associated with Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5 is ZCCHC8 (Zinc Finger CCHC-Type Containing 8). Affiliated tissues include bone marrow, bone and myeloid.

OMIM : 56 Individuals with PFBMFT5 have an age-dependent, rapidly progressive phenotype of pulmonary fibrosis and/or bone marrow failure with short telomeres and low levels of TERC (602322), a specialized noncoding RNA that provides the template for telomere repeat addition (Gable et al., 2019). (618674)

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:

56
Respiratory Lung:
pulmonary fibrosis

Laboratory Abnormalities:
shortened telomeres
low levels of terc

Hematology:
bone marrow failure

Clinical features from OMIM:

618674

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, 5

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, 5:

# Genetic test Affiliating Genes
1 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5 29

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, 5:

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, 5:

# Title Authors PMID Year
1
ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation. 6 56
31488579 2019

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, 5:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZCCHC8 NM_017612.5(ZCCHC8):c.557C>T (p.Pro186Leu)SNV Pathogenic 694674 12:122968055-122968055 12:122483508-122483508

UniProtKB/Swiss-Prot genetic disease variations for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5:

73
# Symbol AA change Variation ID SNP ID
1 ZCCHC8 p.Pro186Leu VAR_083448

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, 5.

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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