Term ID: 31273
Name: Shock
Synonym:
Definition: The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury.
Comments:
Reference: HP:0031273
Genes and Diseases: Child Nodes: ........Cardiogenic shock (HP:0030149) ........Hypovolemic shock (HP:0031274) ........Distributive shock (HP:0031275) ........Obstructive shock (HP:0031276) Sister Nodes: ..Abnormal cardiac atrial physiology (HP:0025443) ..Abnormal cardiac ventricular function (HP:0030872) ..Abnormal echocardiogram (HP:0003116) ..Abnormal heart sound (HP:0031657) ..Abnormal heart valve physiology (HP:0031653) ..Abnormal systemic blood pressure (HP:0030972) ..Abnormal vascular physiology (HP:0030163) ..Abnormality of blood circulation (HP:0011028) ..Abnormality of cardiovascular system electrophysiology (HP:0030956) ..Angina pectoris (HP:0001681) ..Congestive heart failure (HP:0001635) ..Myocardial infarction (HP:0001658) ..Syncope (HP:0001279) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0031273 HP:0031273 Shock 0 ABCC6 CL E G H 368 57 OMIM:614473 Arterial calcification, generalized, of infancy, 2 415 HP:0031273 HP:0031273 Shock 0 ATRX CL E G H 546 886 ORPHA:100075 Neuroendocrine tumor of stomach 169 HP:0031273 HP:0031273 Shock 0 DAXX CL E G H 1616 2681 ORPHA:100075 Neuroendocrine tumor of stomach HP:0031273 HP:0031273 Shock 0 DSP CL E G H 1832 3052 ORPHA:158687 Lethal acantholytic erosive disorder 747 HP:0031273 HP:0031273 Shock 0 JUP CL E G H 3728 6207 ORPHA:158687 Lethal acantholytic erosive disorder 222 HP:0031273 HP:0031273 Shock 0 LMOD2 CL E G H 442721 6648 OMIM:619897 HP:0031273 HP:0031273 Shock 0 MYL2 CL E G H 4633 7583 OMIM:619424 MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12 131 HP:0031273 HP:0031273 Shock 0 NAA10 CL E G H 8260 18704 ORPHA:276432 Ogden syndrome 23 HP:0031273 HP:0031273 Shock 0 RPL3L CL E G H 6123 10351 OMIM:619371 CARDIOMYOPATHY, DILATED, 2D; CMD2D HP:0031273 HP:0031273 Shock 0 SCNN1A CL E G H 6337 10599 ORPHA:171876 Generalized pseudohypoaldosteronism type 1 67 HP:0031273 HP:0031273 Shock 0 SCNN1B CL E G H 6338 10600 ORPHA:171876 Generalized pseudohypoaldosteronism type 1 61 HP:0031273 HP:0031273 Shock 0 SCNN1G CL E G H 6340 10602 ORPHA:171876 Generalized pseudohypoaldosteronism type 1 57 HP:0031273 HP:0031273 Shock 0 SDHA CL E G H 6389 10680 OMIM:613642 Cardiomyopathy, dilated, 1gg 304 HP:0031273 HP:0031273 Shock 0 TRDN CL E G H 10345 12261 OMIM:615441 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS; CPVT5 145 HP:0031273 HP:0031275 Distributive shock 1 CL E G H HP:0031273 HP:0031276 Obstructive shock 1 CL E G H HP:0031273 HP:0030149 Cardiogenic shock 1 ABCC6 CL E G H 368 57 OMIM:614473 Arterial calcification, generalized, of infancy, 2 415 HP:0031273 HP:0030149 Cardiogenic shock 1 ATRX CL E G H 546 886 ORPHA:100075 Neuroendocrine tumor of stomach HP:0040284 - Very rare 169 HP:0031273 HP:0030149 Cardiogenic shock 1 DAXX CL E G H 1616 2681 ORPHA:100075 Neuroendocrine tumor of stomach HP:0040284 - Very rare HP:0031273 HP:0031274 Hypovolemic shock 1 DSP CL E G H 1832 3052 ORPHA:158687 Lethal acantholytic erosive disorder HP:0040282 - Frequent 747 HP:0031273 HP:0031274 Hypovolemic shock 1 JUP CL E G H 3728 6207 ORPHA:158687 Lethal acantholytic erosive disorder HP:0040282 - Frequent 222 HP:0031273 HP:0030149 Cardiogenic shock 1 LMOD2 CL E G H 442721 6648 OMIM:619897 HP:0031273 HP:0030149 Cardiogenic shock 1 MYL2 CL E G H 4633 7583 OMIM:619424 MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12 131 HP:0031273 HP:0030149 Cardiogenic shock 1 NAA10 CL E G H 8260 18704 ORPHA:276432 Ogden syndrome HP:0040283 - Occasional 23 HP:0031273 HP:0030149 Cardiogenic shock 1 RPL3L CL E G H 6123 10351 OMIM:619371 CARDIOMYOPATHY, DILATED, 2D; CMD2D HP:0031273 HP:0031274 Hypovolemic shock 1 SCNN1A CL E G H 6337 10599 ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0040282 - Frequent 67 HP:0031273 HP:0031274 Hypovolemic shock 1 SCNN1B CL E G H 6338 10600 ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0040282 - Frequent 61 HP:0031273 HP:0031274 Hypovolemic shock 1 SCNN1G CL E G H 6340 10602 ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0040282 - Frequent 57 HP:0031273 HP:0030149 Cardiogenic shock 1 SDHA CL E G H 6389 10680 OMIM:613642 Cardiomyopathy, dilated, 1gg 304
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
