OMIM: 155541, 155540, 176830, 614962, 614963, 603128
OMIM: 201910
OMIM: 202010
OMIM: 202110
OMIM: 201810
OMIM: 201810
Schwere neonatale Form
OMIM: 613370
Gen und Locus | OMIM | Erbgang |
ANOS1, Xp22.3 | X-chromosomal rezessiv | |
FGFR1, 8p11.23 | autosomal dominant | |
PROK2, 3p13 | autosomal dominant | |
PROKR2, 20p12.3 | autosomal dominant | |
CHD7, 8q12.2 | autosomal dominant | |
GNRHR, 4q13.2 | autosomal rezessiv | |
IL17RD, 3p14.3 | autosomal dominant, autosomal rezessiv | |
SOX10, 22q13.1 | autosomal dominant | |
TACR3, 4q24 | autosomal rezessiv |
OMIM: 606391
MODY | Gen und Locus | OMIM |
MODY 1 | HNF4A, Locus 20q12-q13.1 | |
MODY 2 | GCK, Locus 7p13 | |
MODY 3 | HNF1A, Locus 12q24.2 | |
MODY 4 | PDX1, Locus 13q12.1 | |
MODY 5 | HNF1B, Locus 17q12 | |
MODY 6 | NEUROD1, Locus 2q31 | |
MODY 7 | KLF11, Locus 2p25.1 | |
MODY 8 | CEL, Locus 9q34.13 | |
MODY 9 | PAX4, Locus 7q32.1 | |
MODY 10 | INS, Locus 11p15.5 | |
MODY 11 | BLK, Locus 8p32.1 | |
MODY 13 | KCNJ11, Locus 11p15.1 | |
MODY 14 | APPL1, Locus 3p14.3 |