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PFBMFT5
MCID: PLM195
MIFTS: 13
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Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5 (PFBMFT5)
Categories:
Bone diseases, Cancer diseases, Genetic diseases, Immune diseases
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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
6
Characteristics:OMIM:56
Miscellaneous:
adult onset one family has been reported (last curated november 2019)
Inheritance:
autosomal dominant Classifications:
MalaCards categories:
Global: Genetic diseases Cancer diseases Anatomical: Bone diseases Immune diseases |
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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)
MalaCards based summary : Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5, is also known as pfbmft5. 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 and bone marrow. |
Diseases in the Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 family:
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Symptoms & Phenotypes for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...
Drugs & Therapeutics for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...
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MalaCards organs/tissues related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5:40
Bone,
Bone Marrow
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Articles related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5:
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Genes related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5:6
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Search
GEO
for disease gene expression data for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5.
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