Phenotypes associated with the disease liver disease, severe congenital (OMIM:619991):
- Inappropriate crying (HP:0030215): Uncontrolled episodes of crying occur without any apparent motivating stimuli. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Aminoaciduria (HP:0003355): An increased concentration of an amino acid in the urine. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Hypoproteinemia (HP:0003075): A decreased concentration of protein in the blood. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 5/14. (PMID:35864190)
- Systolic heart murmur (HP:0031664): A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2. Evidence: PCS. Frequency: 3/14. (PMID:35864190)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Hyperechogenic kidneys (HP:0004719): 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: 1/14. (PMID:35864190)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: PCS. Frequency: 3/14. (PMID:35864190)
- Hyperalaninemia (HP:0003348): An increased concentration of alanine in the blood. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 7/14. (PMID:35864190)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Cough (HP:0012735): A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Evidence: PCS. Frequency: 2/14. (PMID:35864190)
- Elevated hepatic iron concentration (HP:0012465): An increased level of iron in liver tissues. Evidence: PCS. Frequency: 3/14. (PMID:35864190)
- Exocrine pancreatic insufficiency (HP:0001738): Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Blue nevus (HP:0100814): A solitary, bluish, smooth surfaced macule, papule or plaque that is generally round or oval in shape. The histopathology of blue nevi varies by subtype, but general characteristics include a vertical wedge or bulbous shaped proliferation of spindle cells, dendritic melanocytes, and melanophages into a sclerotic dermis or subcutis. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Autosomal recessive inheritance (HP:0000007): 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:35864190)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 2/14. (PMID:35864190)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: PCS. Frequency: 2/14. (PMID:35864190)
- Hepatic steatosis (HP:0001397): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: PCS. Frequency: 3/14. (PMID:35864190)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Hepatic failure (HP:0001399). Evidence: PCS. Frequency: 6/14. (PMID:35864190)
- Protein-losing enteropathy (HP:0002243): Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 10/14. (PMID:35864190)
- Chronic gastritis (HP:0005231): A chronic form of gastritis. Evidence: PCS. Frequency: 2/14. (PMID:35864190)
- Hepatic encephalopathy (HP:0002480): 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: 1/14. (PMID:35864190)
- Dry hair (HP:0011359): Hair that lacks the luster (shine or gleam) of normal hair. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Ballooning hepatocyte degeneration (HP:0033193): Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarefied, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62. Evidence: PCS. Frequency: 4/14. (PMID:35864190)
- Portal inflammation (HP:0033196): Infiltration of portal fields by inflammatory cells. Evidence: PCS. Frequency: 4/14. (PMID:35864190)
- Left atrial enlargement (HP:0031295): Increase in size of the left atrium. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Irritability (HP:0000737): An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity). Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Short attention span (HP:0000736): Reduced attention span characterized by distractibility and impulsivity. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Increased total lymphocyte count (HP:0100827): Increase in the number or proportion of lymphocytes in the blood. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Dilatation of the ventricular cavity (HP:0006698): A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole. Evidence: PCS. Frequency: 2/14. (PMID:35864190)
- Elevated circulating hepatic transaminase concentration (HP:0002910): 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: 10/14. (PMID:35864190)
- Metabolic acidosis (HP:0001942): Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. Evidence: PCS. Frequency: 3/14. (PMID:35864190)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: PCS. Frequency: 8/14. (PMID:35864190)
- Subvalvular aortic stenosis (HP:0001682): A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: PCS. Frequency: 4/14. (PMID:35864190)
- Alpha-aminobutyric aciduria (HP:0025631): Increased amount of alpha-aminobutyric acid in the urine. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Malnutrition (HP:0004395): A deficiency in the intake of energy and nutrients. Evidence: PCS. Frequency: 4/14. (PMID:35864190)
- Dependency on parenteral nutrition (HP:0033994): Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Pneumonia (HP:0002090): Inflammation of any part of the lung parenchyma. Evidence: PCS. Frequency: 2/14. (PMID:35864190)
- Poor fine motor coordination (HP:0007010): An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Biliary hyperplasia (HP:0006560): Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia. Evidence: PCS. Frequency: 4/14. (PMID:35864190)
- Cholesteatoma (HP:0009797): Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Recurrent fever (HP:0001954): Periodic (episodic or recurrent) bouts of fever. Evidence: PCS. Frequency: 2/14. (PMID:35864190)
- Increased hepatic glycogen content (HP:0006568): An increase in the amount of glycogen stored in hepatocytes compared to normal. Evidence: PCS. Frequency: 2/14. (PMID:35864190)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 2/14. (PMID:35864190)
- Peritonitis (HP:0002586): Inflammation of the peritoneum. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: PCS. Frequency: 2/14. (PMID:35864190)
- Macrocephaly at birth (HP:0004488): The presence of an abnormally large skull with onset at birth. Evidence: PCS. Frequency: 1/14. Onset: Congenital onset (HP:0003577). (PMID:35864190)
- Delayed CNS myelination (HP:0002188): Delayed myelination in the central nervous system. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Dermal translucency (HP:0010648): An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Abnormal circulating thyroid hormone concentration (HP:0031508): Any deviation from the normal range of the hormones produced by the thyroid gland. Evidence: PCS. Frequency: 4/14. (PMID:35864190)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: PCS. Frequency: 11/14. (PMID:35864190)
- Cow milk allergy (HP:0100327): Hypersensitivity in form of an adverse immune reaction against cow milk protein. Evidence: PCS. Frequency: 4/14. (PMID:35864190)
- Abnormality of coagulation (HP:0001928): An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot. Evidence: PCS. Frequency: 7/14. (PMID:35864190)
- Intrahepatic cholestasis (HP:0001406): Impairment of bile flow due to obstruction in the small bile ducts within the liver. Evidence: PCS. Frequency: 5/14. (PMID:35864190)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: PCS. Frequency: 2/14. (PMID:35864190)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: PCS. Frequency: 5/14. (PMID:35864190)
- Ascites (HP:0001541): Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). Evidence: PCS. Frequency: 4/14. (PMID:35864190)
- Elevated brain N-acetyl aspartate level by MRS (HP:0025053): An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS). Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: PCS. Frequency: 6/14. (PMID:35864190)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: PCS. Frequency: 3/14. (PMID:35864190)
- Pancreatic hypoplasia (HP:0002594): Hypoplasia of the pancreas. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Increased circulating ferritin concentration (HP:0003281): Increased concentration of ferritin in the blood circulation. Evidence: PCS. Frequency: 5/14. (PMID:35864190)
- Status asthmaticus (HP:0012653): Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Hyperbilirubinemia (HP:0002904): An increased amount of bilirubin in the blood. Evidence: PCS. Frequency: 5/14. (PMID:35864190)
- Umbilical hernia (HP:0001537): Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Evidence: PCS. Frequency: 5/14. (PMID:35864190)
- Hyponatremia (HP:0002902): The concentration of sodium in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Eczematoid dermatitis (HP:0000964): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Hypocalcemia (HP:0002901): The concentration of calcium in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/14. Onset: Neonatal onset (HP:0003623). (PMID:35864190)
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Triangular face (HP:0000325): Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Patent foramen ovale (HP:0001655): Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. Evidence: PCS. Frequency: 2/14. (PMID:35864190)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: 6/14. (PMID:35864190)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 10/14. (PMID:35864190)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 5/14. (PMID:35864190)
- Narrow nasal ridge (HP:0000418): Decreased width of the nasal ridge. Evidence: PCS. Frequency: 2/14. (PMID:35864190)
- Elevated circulating alpha-fetoprotein concentration (HP:0006254): The concentration of alpha-fetoprotein in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 6/14. (PMID:35864190)
- Hyperammonemia (HP:0001987): An increased concentration of ammonia in the blood. Evidence: PCS. Frequency: 2/14. (PMID:35864190)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 10/14. (PMID:35864190)
- Decreased total leukocyte count (HP:0001882): An abnormal decreased number of leukocytes in the blood. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Cardiomegaly (HP:0001640): Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Hydrocele testis (HP:0000034): Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis. Evidence: PCS. Frequency: 2/14. (PMID:35864190)
- Abnormal left ventricular function (HP:0005162): Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Neurodevelopmental delay (HP:0012758): Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 2/14. (PMID:35864190)
- Decreased circulating vitamin D concentration (HP:0100512): The concentration of vitamin D in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 2/14. (PMID:35864190)
- Decreased circulating vitamin E concentration (HP:0100513): A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Pulmonary edema (HP:0100598): Fluid accumulation in the lungs. Evidence: PCS. Frequency: 2/14. (PMID:35864190)
- Hyperinsulinemic hypoglycemia (HP:0000825): An increased concentration of insulin combined with a decreased concentration of glucose in the blood. Evidence: PCS. Frequency: 5/14. (PMID:35864190)
- Abnormal hepatic echogenicity (HP:0031142): Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen). Evidence: PCS. Frequency: 7/14. (PMID:35864190)
- Reduced circulating vitamin A concentration (HP:0004905): Concentration of vitamin A below the lower limit of normal in the blood circulation. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. Frequency: 9/14. (PMID:35864190)
- Plagiocephaly (HP:0001357): Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. Evidence: PCS. Frequency: 1/14. (PMID:35864190)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 3/14. (PMID:35864190)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: PCS. Frequency: 1/14. Onset: Congenital onset (HP:0003577). (PMID:35864190)