| Condition | Indicated | Relationship Strength | Studies | Trials |
|---|
Inborn Urea Cycle Disorder
[description not available] | 0 | 15.09 | 67 | 20 |
Urea Cycle Disorders, Inborn
Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA. | 1 | 19.62 | 134 | 40 |
Encephalopathy, Hepatic
[description not available] | 0 | 14.43 | 48 | 4 |
Hepatic Encephalopathy
A syndrome characterized by central nervous system dysfunction in association with LIVER FAILURE, including portal-systemic shunts. Clinical features include lethargy and CONFUSION (frequently progressing to COMA); ASTERIXIS; NYSTAGMUS, PATHOLOGIC; brisk oculovestibular reflexes; decorticate and decerebrate posturing; MUSCLE SPASTICITY; and bilateral extensor plantar reflexes (see REFLEX, BABINSKI). ELECTROENCEPHALOGRAPHY may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5) | 0 | 14.43 | 48 | 4 |
Bile Duct Obstruction, Intrahepatic
[description not available] | 0 | 2.25 | 1 | 0 |
Cholestasis, Intrahepatic
Impairment of bile flow due to injury to the HEPATOCYTES; BILE CANALICULI; or the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC). | 0 | 2.25 | 1 | 0 |
Hyperammonemia
Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA. | 0 | 9.36 | 9 | 5 |
Deficiency Disease, Ornithine Carbamoyltransferase
[description not available] | 0 | 2.15 | 1 | 0 |
Arginino Succinase Deficiency
[description not available] | 0 | 2.15 | 1 | 0 |
Ornithine Carbamoyltransferase Deficiency Disease
An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50) | 0 | 2.15 | 1 | 0 |
Argininosuccinic Aciduria
Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder. | 0 | 2.15 | 1 | 0 |
Adverse Drug Event
[description not available] | 0 | 9.06 | 37 | 0 |
Pyrexia
[description not available] | 0 | 3.06 | 1 | 0 |
Cough
A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. It is a protective response that serves to clear the trachea, bronchi, and/or lungs of irritants and secretions, or to prevent aspiration of foreign materials into the lungs. | 0 | 3.06 | 1 | 0 |
Fever
An abnormal elevation of body temperature, usually as a result of a pathologic process. | 0 | 3.06 | 1 | 0 |
Neutropenia
A decrease in the number of NEUTROPHILS found in the blood. | 0 | 3.06 | 1 | 0 |
Drug-Related Side Effects and Adverse Reactions
Disorders that result from the intended use of PHARMACEUTICAL PREPARATIONS. Included in this heading are a broad variety of chemically-induced adverse conditions due to toxicity, DRUG INTERACTIONS, and metabolic effects of pharmaceuticals. | 0 | 9.06 | 37 | 0 |
Debility
[description not available] | 0 | 3.12 | 1 | 0 |
Cruveilhier-Baumgarten Syndrome
Liver cirrhosis with intrahepatic portal obstruction, HYPERTENSION, and patent UMBILICAL VEINS. | 0 | 3.12 | 1 | 0 |
Cirrhosis, Liver
[description not available] | 0 | 3.94 | 2 | 0 |
Hypertension, Portal
Abnormal increase of resistance to blood flow within the hepatic PORTAL SYSTEM, frequently seen in LIVER CIRRHOSIS and conditions with obstruction of the PORTAL VEIN. | 0 | 3.12 | 1 | 0 |
Liver Cirrhosis
Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules. | 0 | 3.94 | 2 | 0 |
Orphan Diseases
Rare diseases that have not been well studied. | 0 | 2.08 | 1 | 0 |
Benign Neoplasms
[description not available] | 0 | 9.01 | 36 | 0 |
Neoplasms
New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms. | 0 | 9.01 | 36 | 0 |
Malnourishment
[description not available] | 0 | 3.03 | 1 | 0 |
Aneurysm, Arteriovenous
[description not available] | 0 | 3.03 | 1 | 0 |
Hepatic Failure
[description not available] | 0 | 3.03 | 1 | 0 |
Liver Failure
Severe inability of the LIVER to perform its normal metabolic functions, as evidenced by severe JAUNDICE and abnormal serum levels of AMMONIA; BILIRUBIN; ALKALINE PHOSPHATASE; ASPARTATE AMINOTRANSFERASE; LACTATE DEHYDROGENASES; and albumin/globulin ratio. (Blakiston's Gould Medical Dictionary, 4th ed) | 0 | 3.03 | 1 | 0 |
Malnutrition
An imbalanced nutritional status resulting from insufficient intake of nutrients to meet normal physiological requirement. | 0 | 3.03 | 1 | 0 |