| H00990 | |
| H番号 | H00990 |
| 名称 | アーミッシュ型小頭症 |
| 概要 | Microcephaly, Amish type (MCPHA) is a lethal, autosomal recessive condition characterized by severe congenital microcephaly, elevated levels of alpha-ketoglutarate in the urine, and premature death. This disorder has been observed in Old Order Amish families. Patients have a homozygous point mutation in SLC25A19 that results in loss of transport activity. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | SLC25A19 [HSA:60386] [KO:K15108] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD20.2 ICD-10: Q02 MeSH: C538247 OMIM: 607196 |
| 文献 | PMID:14598172 著者 Palmieri F タイトル The mitochondrial transporter family (SLC25): physiological and pathological implications. 雑誌 Pflugers Arch 447:689-709 (2004) DOI:10.1007/s00424-003-1099-7 PMID:12185364 著者 Rosenberg MJ, Agarwala R, Bouffard G, Davis J, Fiermonte G, Hilliard MS, Koch T, Kalikin LM, Makalowska I, Morton DH, Petty EM, Weber JL, Palmieri F, Kelley RI, Schaffer AA, Biesecker LG タイトル Mutant deoxynucleotide carrier is associated with congenital microcephaly. 雑誌 Nat Genet 32:175-9 (2002) DOI:10.1038/ng948 |