Gene: CYP21A2
Cytoband position: 6p21.33
OMIM: 613815
RVIS score: None
RVIS percentage: None
| Phenotype name | HPO ID | Alternative HPO ID | Phenotype description |
|---|---|---|---|
| Abnormal urinary electrolyte concentration | HP:0012591 | None | An abnormality in the concentration of electrolytes in the urine. |
| Abnormality of the musculoskeletal system | HP:0033127 | None | An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. |
| Abnormal systemic blood pressure | HP:0030972 | None | A chronic deviation from normal pressure in the systemic arterial system. |
| Abnormality of the skeletal system | HP:0000924 | None | An abnormality of the skeletal system. |
| Increased circulating cortisol level | HP:0003118 | HP:0000850,HP:0001578,HP:0004316 | Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features. |
| Adrenogenital syndrome | HP:0000840 | HP:0001921 | Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects. |
| Abnormality of the adrenal glands | HP:0000834 | None | Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. |
| Puberty and gonadal disorders | HP:0008373 | HP:0000827 | None |
| Hypertension | HP:0000822 | HP:0004949,HP:0005126 | The presence of chronic increased pressure in the systemic arterial system. |
| Abnormality of the endocrine system | HP:0000818 | None | An abnormality of the endocrine system. |
| Abnormal external genitalia | HP:0000811 | None | None |
| Abnormality of the urethra | HP:0000795 | None | An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body. |
| Gynecomastia | HP:0000771 | HP:0000770 | Abnormal development of large mammary glands in males resulting in breast enlargement. |
| Abnormality of the breast | HP:0000769 | None | An abnormality of the breast. |
| Abnormal thorax morphology | HP:0000765 | HP:0100655 | Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). |
| Elevated circulating 21-deoxycortisol concentration | HP:6000516 | None | The concentration of 21-deoxycortisol in the blood circulation is above the upper limit of normal. |
| Abnormal homeostasis | HP:0012337 | None | An anomaly in the processes involved in the maintenance of an internal equilibrium. |
| Hypoglycemia | HP:0001943 | HP:0003356 | A decreased concentration of glucose in the blood. |
| Abnormal reproductive system morphology | HP:0012243 | None | A structural or developmental anomaly of any of the tissues involved in the genital system. |
| Abnormal circulating hormone concentration | HP:0003117 | None | Concentration of a hormone in the blood circulation outside of normal limits. |
| Abnormality of the cardiovascular system | HP:0001626 | HP:0003116 | Any abnormality of the cardiovascular system. |
| Abnormality of urine homeostasis | HP:0003110 | HP:0011865,HP:0011866 | An abnormality of the composition of urine or the levels of its components. |
| Abnormality of circulating glucocorticoid level | HP:0012111 | None | An abnormality of the concentration of a glucocorticoid in the blood. |
| Abnormal axial skeleton morphology | HP:0009121 | None | An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. |
| Renal salt wasting | HP:0000127 | None | A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s). |
| Abnormality of the genitourinary system | HP:0000119 | HP:0008658,HP:0008688,HP:0008704,HP:0008713 | The presence of any abnormality of the genitourinary system. |
| Phenotypic abnormality | HP:0000118 | None | A phenotypic abnormality. |
| Abnormality of the urinary system | HP:0000079 | None | An abnormality of the urinary system. |
| Abnormality of the genital system | HP:0000078 | None | An abnormality of the genital system. |
| Hypospadias | HP:0000047 | None | 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. |
| Abnormal penis morphology | HP:0000036 | None | Abnormality of the male external sex organ. |
| Abnormal male external genitalia morphology | HP:0000032 | None | Any structural abnormality of male external genitalia. |
| Autosomal recessive inheritance | HP:0000007 | HP:0001416,HP:0001526,HP:0031362 | 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). |
| Mode of inheritance | HP:0000005 | HP:0001425,HP:0001453,HP:0001461,HP:0010985 | The pattern in which a particular genetic trait or disorder is passed from one generation to the next. |
| All | HP:0000001 | None | None |
| Abnormality of the lower urinary tract | HP:0010936 | None | An abnormality of the lower urinary tract. |
| Recurrent fever | HP:0001954 | HP:0004903,HP:0005962,HP:0005966,HP:0005980 | Periodic (episodic or recurrent) bouts of fever. |
| Fever | HP:0001945 | None | Body temperature elevated above the normal range. |
| Abnormality of metabolism/homeostasis | HP:0001939 | HP:0002146,HP:0004355,HP:0004367 | None |
| Displacement of the urethral meatus | HP:0100627 | None | A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina). |
| Growth abnormality | HP:0001507 | HP:0008904 | None |
| Abnormality of the male genitalia | HP:0010461 | None | Abnormality of the male genital system. |
| Abnormality of temperature regulation | HP:0004370 | None | An abnormality of temperature homeostasis. |
| Mendelian inheritance | HP:0034345 | None | A mode of inheritance of diseases whose pathophysiology can be traced back to deleterious variants in a single gene. The inheritance patterns of these single-gene (monogenic) diseases are often referred to as Mendelian in honor of Gregor Mendel. |
| Abnormal breast morphology | HP:0031093 | None | Any anomaly of the structure of the breast. |
| Abnormal endocrine morphology | HP:0031071 | None | Any anomaly of the structure of an organ ofthe endocrine system. |
| Abnormal skeletal morphology | HP:0011842 | None | An abnormality of the form, structure, or size of the skeletal system. |
| Abnormality of adrenal physiology | HP:0011733 | HP:0002855 | A functional abnormality of the adrenal glands. |
| Abnormal adrenal morphology | HP:0011732 | None | Any structural anomaly of the adrenal glands. |
| Abnormality of circulating cortisol level | HP:0011731 | None | An abnormality of the concentration of cortisol in the blood. |
| Adrenal overactivity | HP:0002717 | None | None |
| Increased blood pressure | HP:0032263 | None | Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension. |
| Abnormality of the urinary system physiology | HP:0011277 | None | None |
| Adrenal hyperplasia | HP:0008221 | None | Enlargement of the adrenal gland. |
| Abnormal male urethral meatus morphology | HP:0032076 | None | None |
| Abnormal cardiovascular system physiology | HP:0011025 | None | Abnormal functionality of the cardiovascular system. |
| Abnormal glucose homeostasis | HP:0011014 | None | Abnormality of glucose homeostasis. |
| Abnormal blood glucose concentration | HP:0011015 | None | An abnormality of the concentration of glucose in the blood. |