Smith-Lemli-Opitz syndrom
En autosomal recessiv störning av KOLESTEROLmetabolism. Det orsakas av en brist på 7-dehydrokolesterolreduktas, enzymet som omvandlar 7-dehydrokolesterol till kolesterol, vilket leder till ett onormalt lågt plasmakolesterol. Detta syndrom kännetecknas av flera medfödda ABNORMITETER, tillväxtbrist och intellektuell funktionshinder.
Förklaring på engelska
An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.
Synonym, svenska: SLO-syndrom; RSH-SLO syndrom; Smith-Lemli-Opitz syndrom, typ 1; Smith-Lemli-Opitz syndrom, typ 2
Synonym, engelska: Smith Lemli Opitz Syndrome; SLO Syndrome; SLO Syndromes; Syndrome, SLO; Syndromes, SLO; Hyperotosis Corticalis Generalisata Familiaris; RSH Syndrome; RSH Syndromes; Syndrome, RSH; Syndromes, RSH; RSH-SLO Syndrome; RSH SLO Syndrome; RSH-SLO Syndromes; Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung; Smith-Lemli-Opitz Syndrome, Type II; Smith Lemli Opitz Syndrome, Type II; Rutledge Lethal Multiple Congenital Anomaly Syndrome; Rutledge Friedman Harrod Syndrome; Smith-Lemli-Opitz Syndrome, Type 2; Smith Lemli Opitz Syndrome, Type 2; Lethal Acrodysgenital Syndrome; Acrodysgenital Syndrome, Lethal; Acrodysgenital Syndromes, Lethal; Lethal Acrodysgenital Syndromes; Syndrome, Lethal Acrodysgenital; 7-Dehydrocholesterol Reductase Deficiency; 7-Dehydrocholesterol Reductase Deficiencies; Deficiencies, 7-Dehydrocholesterol Reductase; Deficiency, 7-Dehydrocholesterol Reductase; Reductase Deficiencies, 7-Dehydrocholesterol; Reductase Deficiency, 7-Dehydrocholesterol; Smith-Lemli-Opitz Syndrome, Type I; Smith Lemli Opitz Syndrome, Type I; Smith-Lemli-Opitz Syndrome, Type 1; Smith Lemli Opitz syndrome, type 1
| Svensk term | Smith-Lemli-Opitz syndrom |
| Synonym på svenska | SLO-syndrom; RSH-SLO syndrom; Smith-Lemli-Opitz syndrom, typ 1; Smith-Lemli-Opitz syndrom, typ 2 |
| Synonym på engelska | Smith Lemli Opitz Syndrome; SLO Syndrome; SLO Syndromes; Syndrome, SLO; Syndromes, SLO; Hyperotosis Corticalis Generalisata Familiaris; RSH Syndrome; RSH Syndromes; Syndrome, RSH; Syndromes, RSH; RSH-SLO Syndrome; RSH SLO Syndrome; RSH-SLO Syndromes; Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung; Smith-Lemli-Opitz Syndrome, Type II; Smith Lemli Opitz Syndrome, Type II; Rutledge Lethal Multiple Congenital Anomaly Syndrome; Rutledge Friedman Harrod Syndrome; Smith-Lemli-Opitz Syndrome, Type 2; Smith Lemli Opitz Syndrome, Type 2; Lethal Acrodysgenital Syndrome; Acrodysgenital Syndrome, Lethal; Acrodysgenital Syndromes, Lethal; Lethal Acrodysgenital Syndromes; Syndrome, Lethal Acrodysgenital; 7-Dehydrocholesterol Reductase Deficiency; 7-Dehydrocholesterol Reductase Deficiencies; Deficiencies, 7-Dehydrocholesterol Reductase; Deficiency, 7-Dehydrocholesterol Reductase; Reductase Deficiencies, 7-Dehydrocholesterol; Reductase Deficiency, 7-Dehydrocholesterol; Smith-Lemli-Opitz Syndrome, Type I; Smith Lemli Opitz Syndrome, Type I; Smith-Lemli-Opitz Syndrome, Type 1; Smith Lemli Opitz syndrome, type 1 |
| Engelsk term | Smith-Lemli-Opitz Syndrome |
| MESH ID | D019082 |