The Human Phenotype Ontology table provides information on the disease phenotypes associated with a particular gene.
Gene: CAT
Cytoband position: 11p13
OMIM: 115500
RVIS score: -0.31
RVIS percentage: 32.15
| Phenotype name | HPO ID | Alternative HPO ID | Phenotype description |
|---|---|---|---|
| Abnormality of head or neck | HP:0000152 | None | An abnormality of head and neck. |
| Abnormality of the mouth | HP:0000153 | None | An abnormality of the mouth. |
| Oral ulcer | HP:0000155 | None | Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. |
| Abnormal oral cavity morphology | HP:0000163 | None | Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. |
| Abnormality of the dentition | HP:0000164 | HP:0006348 | Any abnormality of the teeth. |
| Severe periodontitis | HP:0000166 | None | A severe form of periodontitis. |
| Vitiligo | HP:0001045 | None | None |
| Abnormal bleeding | HP:0001892 | HP:0008183 | An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. |
| Anemia | HP:0001903 | HP:0005509 | A reduction in erythrocytes volume or hemoglobin concentration. |
| Microcytic anemia | HP:0001935 | None | A kind of anemia in which the volume of the red blood cells is reduced. |
| Abnormality of the respiratory system | HP:0002086 | None | An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. |
| Abnormality of the upper respiratory tract | HP:0002087 | None | An abnormality of the upper respiratory tract. |
| Neoplasm of the larynx | HP:0100605 | None | None |
| Neoplasm of the respiratory system | HP:0100606 | None | A tumor (abnormal growth of tissue) of the respiratory system. |
| Type I diabetes mellitus | HP:0100651 | None | A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin. |
| Schizophrenia | HP:0100753 | None | A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%. |
| Gangrene | HP:0100758 | None | A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis). |
| Abnormality of the vasculature | HP:0002597 | None | An abnormality of the vasculature. |
| Neoplasm | HP:0002664 | HP:0006741 | An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour). |
| Abnormality of the immune system | HP:0002715 | HP:0010986 | An abnormality of the immune system. |
| Type II diabetes mellitus | HP:0005978 | HP:0100652 | A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia. |
| Premature loss of permanent teeth | HP:0006357 | None | Premature loss of the permanent teeth. |
| Premature loss of teeth | HP:0006480 | HP:0006343 | Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal. |
| Old-aged sensorineural hearing impairment | HP:0040113 | None | None |
| Abnormal vascular morphology | HP:0025015 | None | None |
| Constitutional symptom | HP:0025142 | None | A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual. |
| Anemia of inadequate production | HP:0010972 | HP:0005553 | A kind of anemia characterized by inadequate production of erythrocytes. |
| Abnormality of immune system physiology | HP:0010978 | None | A functional abnormality of the immune system. |
| Abnormal systemic arterial morphology | HP:0011004 | HP:0005114 | An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries. |
| Abnormal glucose homeostasis | HP:0011014 | None | Abnormality of glucose homeostasis. |
| Abnormality of skin morphology | HP:0011121 | None | Any morphological abnormality of the skin. |
| Functional abnormality of the inner ear | HP:0011389 | None | An abnormality of the function of the inner ear. |
| Abnormal central motor function | HP:0011442 | None | An anomaly of the control or production of movement in the central nervous system. |
| Neoplasm by anatomical site | HP:0011793 | None | Neoplasm categorized according to the anatomical site of origin of the neoplasm. |
| Abnormal oral mucosa morphology | HP:0011830 | None | Abnormality of the oral mucosa. |
| Abnormal respiratory system morphology | HP:0012252 | None | A structural anomaly of the respiratory system. |
| Abnormal homeostasis | HP:0012337 | None | An anomaly in the processes involved in the maintenance of an internal equilibrium. |
| Abnormal enzyme/coenzyme activity | HP:0012379 | None | An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme. |
| Abnormality of cardiovascular system morphology | HP:0030680 | HP:0002565 | Any structural anomaly of the heart and great vessels. |
| Abnormal ear physiology | HP:0031704 | None | Any functional anomaly of the ear. |
| Abnormal oral morphology | HP:0031816 | None | Any structural anomaly of the mouth, which is also known as the oral cavity. |
| Abnormality of the gingiva | HP:0000168 | None | Any abnormality of the gingiva (also known as gums). |
| Gingival bleeding | HP:0000225 | HP:0000167 | Hemorrhage affecting the gingiva. |
| Gingivitis | HP:0000230 | None | Inflammation of the gingiva. |
| Abnormality of the head | HP:0000234 | None | An abnormality of the head. |
| Abnormality of the face | HP:0000271 | None | An abnormality of the face. |
| Hearing abnormality | HP:0000364 | None | An abnormality of the sensory perception of sound. |
| Hearing impairment | HP:0000365 | HP:0008563 | A decreased magnitude of the sensory perception of sound. |
| Sensorineural hearing impairment | HP:0000407 | HP:0008614 | A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. |
| Abnormal blood vessel morphology | HP:0033353 | None | Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein). |
| Abnormality of the ear | HP:0000598 | None | An abnormality of the ear. |
| Periodontitis | HP:0000704 | HP:0006301 | Inflammation of the periodontium. |
| Abnormality of the nervous system | HP:0000707 | HP:0006987 | An abnormality of the nervous system. |
| Behavioral abnormality | HP:0000708 | HP:0002456 | An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. |
| Abnormality of the endocrine system | HP:0000818 | None | An abnormality of the endocrine system. |
| Diabetes mellitus | HP:0000819 | HP:0008260 | A group of abnormalities characterized by hyperglycemia and glucose intolerance. |
| Abnormality of the skin | HP:0000951 | HP:0007580 | An abnormality of the skin. |
| Abnormality of skin pigmentation | HP:0001000 | HP:0200045 | An abnormality of the pigmentation of the skin. |
| Reduced catalase level | HP:0012517 | None | An abnormally decreased amount of catalase level. |
| Abnormality of the integument | HP:0001574 | None | An abnormality of the integument, which consists of the skin and the superficial fascia. |
| Abnormality of the larynx | HP:0001600 | None | An abnormality of the larynx. |
| Abnormality of the cardiovascular system | HP:0001626 | None | Any abnormality of the cardiovascular system. |
| Abnormality of blood and blood-forming tissues | HP:0001871 | HP:0003135 | An abnormality of the hematopoietic system. |
| Abnormal erythrocyte morphology | HP:0001877 | HP:0010973 | Any structural abnormality of erythrocytes (red-blood cells). |
| Abnormality of metabolism/homeostasis | HP:0001939 | HP:0004367 | None |
| Abnormal nervous system physiology | HP:0012638 | None | A functional anomaly of the nervous system. |
| Abnormal inflammatory response | HP:0012647 | None | Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
| Increased inflammatory response | HP:0012649 | None | A abnormal increase in the inflammatory response to injury or infection. |
| Autosomal recessive inheritance | HP:0000007 | HP:0001526 | 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). |
| Parkinsonism | HP:0001300 | None | Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. |
| Abnormality of extrapyramidal motor function | HP:0002071 | HP:0007113 | A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless). |
| Pain | HP:0012531 | None | An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. |
| Glucose intolerance | HP:0001952 | HP:0000833 | Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM). |
| Arteriosclerosis | HP:0002634 | None | Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity. |