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PFBMFT5
MCID: PLM195
MIFTS: 19
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Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5 (PFBMFT5)
Categories:
Bone diseases, Cancer diseases, Genetic diseases, Immune diseases, Respiratory 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:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Miscellaneous:
adult onset one family has been reported (last curated november 2019)
Inheritance:
autosomal dominant HPO:31
pulmonary fibrosis and/or bone marrow failure, telomere-related, 5:
Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Cancer diseases Anatomical: Respiratory diseases Bone diseases Immune diseases |
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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, and related phenotypes are pulmonary fibrosis and bone marrow hypocellularity OMIM® : 57 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) (Updated 05-Mar-2021) |
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,...
Human phenotypes related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5:31
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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 Marrow,
Bone,
Myeloid
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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
UniProtKB/Swiss-Prot genetic disease variations for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5:73
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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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