Phenotypes associated with the disease pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 (OMIM:620367):
- Hepatic failure (HP:0001399). Evidence: PCS. Frequency: 1/1. (PMID:35420632)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 2/4. (PMID:35420632)
- Gastric varix (HP:0030169): Extreme dilation of the submucusoal veins in the stomach. Evidence: PCS. Frequency: 1/1. (PMID:35420632)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: PCS. Frequency: 2/2. (PMID:35420632)
- Esophageal varix (HP:0002040): Extreme dilation of the submucusoal veins in the lower portion of the esophagus. Evidence: PCS. Frequency: 1/1. (PMID:35420632)
- Nodular regenerative hyperplasia of liver (HP:0011954): Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis. Evidence: PCS. Frequency: 1/1. (PMID:35420632)
- Usual interstitial pneumonia (HP:0031950): Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing. Evidence: PCS. Frequency: 4/4. (PMID:35420632)
- Cholecystitis (HP:0001082): The presence of inflammatory changes in the gallbladder. Evidence: PCS. Frequency: 1/1. (PMID:35420632)
- Nonproductive cough (HP:0031246): A cough that does not produce phlegm or mucus. Evidence: PCS. Frequency: 1/1. (PMID:35420632)
- Short telomere length (HP:0031413): An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur. Evidence: PCS. Frequency: 4/4. (PMID:35420632)
- Inspiratory crackles (HP:0031996): Crackles that are heard during the inspiratory phase. Evidence: PCS. Frequency: 4/4. (PMID:35420632)
- Decreased DLCO (HP:0045051): Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test. Evidence: PCS. Frequency: 3/3. (PMID:35420632)
- Portal hypertension (HP:0001409): Increased pressure in the portal vein. Evidence: PCS. Frequency: 1/1. (PMID:35420632)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 2/4. (PMID:35420632)
- Clubbing (HP:0001217): Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails. Evidence: PCS. Frequency: 5/5. (PMID:35420632)
- Increased mean corpuscular volume (HP:0005518): Larger than normal size of erythrocytes. Evidence: PCS. Frequency: 1/1. (PMID:35420632)
- Premature graying of hair (HP:0002216): Development of gray hair at a younger than normal age. Evidence: PCS. Frequency: 1/1. (PMID:35420632)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 2/2. (PMID:35420632)
- Pulmonary fibrosis (HP:0002206): Replacement of normal lung tissues by fibroblasts and collagen. Evidence: PCS. Frequency: 2/2. (PMID:35420632)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 1/1. (PMID:35420632)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:35420632)