Phenotypes associated with the disease hepatorenocardiac degenerative fibrosis (OMIM:619902, an entry in Online Mendelian Inheritance in Man):
- Juvenile onset (HP:0003621, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/15. (PMID:35397207)
- Hypersplenism (HP:0001971, a Human Phenotype Ontology term): A malfunctioning of the spleen in which it prematurely destroys red blood cells. Evidence: PCS. Frequency: 2/15. (PMID:35397207)
- Reduced renal corticomedullary differentiation (HP:0005565, a Human Phenotype Ontology term): Reduced differentiation between renal cortex and medulla on diagnostic imaging. Evidence: PCS. Frequency: 3/14. (PMID:35397207)
- Renal interstitial fibrosis (HP:0032948, a Human Phenotype Ontology term): The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic. Evidence: PCS. Frequency: 1/1. (PMID:35397207)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/15. (PMID:35397207)
- Cirrhosis (HP:0001394, a Human Phenotype Ontology term): A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. Evidence: PCS. Frequency: 7/15. (PMID:35397207)
- Hepatic encephalopathy (HP:0002480, a Human Phenotype Ontology term): Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes. Evidence: PCS. Frequency: 2/15. (PMID:35397207)
- Tubular luminal dilatation (HP:0032622, a Human Phenotype Ontology term): Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen. Evidence: PCS. Frequency: 1/1. (PMID:35397207)
- Hepatic bridging fibrosis (HP:0012852, a Human Phenotype Ontology term): Hepatic fibrosis that reaches from a portal area to another portal area. Evidence: PCS. Frequency: 5/15. (PMID:35397207)
- Portal hypertension (HP:0001409, a Human Phenotype Ontology term): Increased pressure in the portal vein. Evidence: PCS. Frequency: 10/15. (PMID:35397207)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 5/15. (PMID:35397207)
- Hypertrophic cardiomyopathy (HP:0001639, a Human Phenotype Ontology term): Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. Evidence: PCS. Frequency: 3/15. Onset: Adult onset (HP:0003581, a Human Phenotype Ontology term). (PMID:35397207)
- Young adult onset (HP:0011462, a Human Phenotype Ontology term): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 7/15. (PMID:35397207)
- Hyperechogenic kidneys (HP:0004719, a Human Phenotype Ontology term): An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. Evidence: PCS. Frequency: 6/14. (PMID:35397207)
- Renal cyst (HP:0000107, a Human Phenotype Ontology term): A fluid filled sac in the kidney. Evidence: PCS. Frequency: 7/14. (PMID:35397207)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:35397207)
- Hepatosplenomegaly (HP:0001433, a Human Phenotype Ontology term): Simultaneous enlargement of the liver and spleen. Evidence: PCS. Frequency: 9/15. (PMID:35397207)
- Elevated circulating hepatic transaminase concentration (HP:0002910, a Human Phenotype Ontology term): Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. Evidence: PCS. Frequency: 10/15. (PMID:35397207)
- Jaundice (HP:0000952, a Human Phenotype Ontology term): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: PCS. (PMID:35397207)
- Enlarged kidney (HP:0000105, a Human Phenotype Ontology term): An abnormal increase in the size of the kidney. Evidence: PCS. Frequency: 4/14. (PMID:35397207)
- Hepatocellular carcinoma (HP:0001402, a Human Phenotype Ontology term): A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver. Evidence: PCS. Frequency: 1/15. Onset: Young adult onset (HP:0011462, a Human Phenotype Ontology term). (PMID:35397207)