PFBMFT3
MCID: PLM143
MIFTS: 25
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Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 (PFBMFT3)
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, 3:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
adult onset incomplete penetrance variable manifestations HPO:32
pulmonary fibrosis and/or bone marrow failure, telomere-related, 3:
Onset and clinical course adult onset incomplete penetrance Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Cancer diseases Anatomical: Bone diseases Immune diseases |
UniProtKB/Swiss-Prot
:
75
Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 3: 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, 3, also known as pfbmft3, is related to dyskeratosis congenita autosomal dominant and dyskeratosis congenita, autosomal recessive 5. An important gene associated with Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 is RTEL1 (Regulator Of Telomere Elongation Helicase 1). Affiliated tissues include bone, bone marrow and myeloid, and related phenotype is pulmonary fibrosis.
Description from OMIM:
616373
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Diseases in the Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 family:
Diseases related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms & Phenotypes for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related,...
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:616373Human phenotypes related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3:32
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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, 3:41
Bone,
Bone Marrow,
Myeloid
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UniProtKB/Swiss-Prot genetic disease variations for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3:75
ClinVar genetic disease variations for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3:6 (show top 50) (show all 254)
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Search
GEO
for disease gene expression data for Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3.
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Biological processes related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 according to GeneCards Suite gene sharing:
Molecular functions related to Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 according to GeneCards Suite gene sharing:
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