POLG
Deellabo: | PGD DNA |
Gen (Gen Code): | POLG |
Aliases Gen: | PEO; MDP1; SCAE; MIRAS; POLG1; POLGA; SANDO; MTDPS4A; MTDPS4B; FLJ27114; POLG |
Gen ID (NCBI): | 5428 |
OMIM Gen ID: | 174763 |
Chromosomale locatie: | 15q26.1 |
Genetische aandoening / Analyse: | Mitochondriaal DNA depletie syndroom 4A, Alpers type (MTPS4A) |
OMIM aandoening ID: | 203700 |
Overerving: | AR |
Aliases aandoening: | MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY ALPERS SYNDROME ALPERS-HUTTENLOCHER SYNDROME NEURONAL DEGENERATION OF CHILDHOOD WITH LIVER DISEASE, PROGRESSIVE; PNDC |