| HPO |
HP:0001969 |
Abnormal tubulointerstitial morphology |
"An abnormality that involves the tubules and interstitial tissue of the kidney." [HPO:probinson] |
— |
HP:0000091, HP:0032581 |
| HPO |
HP:0001970 |
Tubulointerstitial nephritis |
"A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules." [HP:probinson] |
— |
HP:0001969 |
| HPO |
HP:0001971 |
Hypersplenism |
"A malfunctioning of the spleen in which it prematurely destroys red blood cells." [HPO:probinson] |
The spleen normally functions to remove senescent red blood cells (RBCs) from the circulation. Hypersplenism represents a pathological acceleration of this function, resulting in the premature removal from the circulation of RBCs and other cellular components of the blood, often accompanied by an increase in size of the spleen (splenomegaly). |
HP:0025409 |
| HPO |
HP:0001972 |
Macrocytic anemia |
"A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH)." [HPO:probinson, PMID:19202968] |
The causes of macrocytosis can be broadly classified as megaloblastic and nonmegaloblastic. Megaloblastic processes are characterized on the peripheral smear by macroovalocytes and hypersegmented neutrophils, which are absent in nonmegaloblastic macrocytic processes. Nonmegaloblastic processes have round macrocytes or macroreticulocytes. |
HP:0010972 |
| HPO |
HP:0001973 |
Autoimmune thrombocytopenia |
"The presence of thrombocytopenia in combination with detection of antiplatelet antibodies." [DDD:wouwehand] |
Autoimmune thrombocytopenia is causes by accelerated destruction of auto-antibody sensitized platelets in the reticular-endothelial\nsystem. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Drug-induced autoimmune thrombocytopenia, and autoimmune thrombocytopenia following viral infection. |
HP:0001873, HP:0002960 |
| HPO |
HP:0001974 |
Leukocytosis |
"An abnormal increase in the number of leukocytes in the blood." [HPO:probinson] |
— |
HP:0011893 |
| HPO |
HP:0001975 |
Decreased platelet glycoprotein IIb-IIIa |
"Decreased cell membrane concentration of glycoprotein IIb-IIIa." [DDD:ouwehand] |
The glycoprotein IIb-IIIa is an integrin complex found on platelets that acts a receptor for fibrinogen and aids in platelet activation. |
HP:0011878 |
| HPO |
HP:0001976 |
Reduced antithrombin III activity |
"An abnormality of coagulation related to a decreased concentration of antithrombin-III." [HPO:probinson] |
Antithrombin III (ATIII) inhibits the coagulation cascade by lysing thrombin and factor Xa. The defective inhibition of the coagulation cascade is associated with an increased risk of venous and arterial thrombosis. The physiological target proteases of antithrombin are those of the intrinsic pathway, namely the activated forms of Factor X, Factor IX, Factor XI, Factor XII, and, to a greater extent, Factor II (thrombin), and also the activated form of Factor VII (VIIa) from the the extrinsic pathway. |
HP:0010988, HP:0010989 |
| HPO |
HP:0001977 |
Abnormal thrombosis |
"Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis)." [HPO:probinson] |
— |
HP:0001871 |
| HPO |
HP:0001978 |
Extramedullary hematopoiesis |
"The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms." [HPO:probinson] |
During fetal life, the formation of cellular blood components occurs mainly in the liver, shifting to the bone marrow postnatally. SOme pathological conditions associated with a severe reduction of marrow hematopoiesis are associated with extramedullary hematopoiesis. |
HP:0001871 |
| HPO |
HP:0001980 |
Megaloblastic bone marrow |
"Abnormal increased number of megaloblasts in the bone marrow." [HPO:probinson] |
A megaloblast is an abnormally large nucleated red blood cell found especially in people with pernicious anemia. Megaloblasts, like their normal counterparts, normoblasts, are immature red cell precursors in the bone marrow. Megaloblasts display both a larger size than normoblasts as well as a fine reticular nuclear structure. |
HP:0012145 |
| HPO |
HP:0001981 |
Schistocytosis |
"The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood." [HPO:probinson] |
— |
HP:0004447 |
| HPO |
HP:0001982 |
Sea-blue histiocytosis |
"An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa." [HPO:probinson, PMID:8797061] |
— |
HP:0004311 |
| HPO |
HP:0001983 |
Reduced lymphocyte surface expression of CD43 |
"A reduction in the expression of CD43 on the cell surface of lymphocytes." [HPO:probinson] |
CD43 is a cell-surface sialoglycoprotein that is expressed, typically at high levels, on all leukocytes except most resting B lymphocytes. |
HP:0031383 |
| HPO |
HP:0001984 |
Intolerance to protein |
— |
— |
HP:0012537 |
| HPO |
HP:0001985 |
Hypoketotic hypoglycemia |
"A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies." [HPO:probinson] |
Normally, decreased glucose production leads to increased mitochondrial fatty acid beta-oxidation and the production of ketones. Thus, ketones provide an indication of whether the hypoglycemia is a result of inadequate production or overutilization of glucose (which tends to be associated with low plasma ketone levels). Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. A good starting point for evaluating hypoglycemia is to divide patients into ketotic or non-ketotic. Normal physiologic response to decreased glucose production is increased mitochondrial fatty acid beta-oxidation and the production of ketones. Ketones provide an indirect indication of whether hypoglycemia is the result of inadequate production or of over-utilization of glucose (insulin-induced over-utilization, associated with low urine or plasma ketones). The history of the relationship of the hypoglycemia to feeding is often helpful. Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. Patients with defects in glycogen breakdown, gluconeogenesis, or fatty acid oxidation tend to tolerate short-term fasting much better. |
HP:0001943 |
| HPO |
HP:0001986 |
Hypertonic dehydration |
— |
— |
HP:0001944 |
| HPO |
HP:0001987 |
Hyperammonemia |
"An increased concentration of ammonia in the blood." [HPO:gcarletti] |
— |
HP:0002157 |
| HPO |
HP:0001988 |
Recurrent hypoglycemia |
"Recurrent episodes of decreased concentration of glucose in the blood." [HPO:gcarletti] |
— |
HP:0001943 |
| HPO |
HP:0001989 |
Fetal akinesia sequence |
"Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia)." [HPO:probinson] |
— |
HP:0001558 |
| HPO |
HP:0001991 |
Aplasia/Hypoplasia of toe |
"Absence or hypoplasia of toes." [HPO:probinson] |
— |
HP:0001780, HP:0006494 |
| HPO |
HP:0001992 |
Organic aciduria |
"Excretion of non-amino organic acids in urine." [HPO:probinson] |
— |
HP:0012072 |
| HPO |
HP:0001993 |
Ketoacidosis |
"Acidosis resulting from accumulation of ketone bodies." [HPO:probinson] |
Ketoacidosis can result from diabetes, alcoholic ketoacidosis, prolonged fasting, as well as several hereditary diseases of metabolism. |
HP:0001941, HP:0001946 |
| HPO |
HP:0001994 |
Renal Fanconi syndrome |
"An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water." [HPO:probinson] |
— |
HP:0001947, HP:0011038 |
| HPO |
HP:0001995 |
Hyperchloremic acidosis |
"Acidosis (pH less than 7.35) that develops with an increase in ionic chloride." [PMID:29493965] |
— |
HP:0001941 |