| H00990 | |
| H number | H00990 |
| Name | Microcephaly, Amish type |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | SLC25A19 [HSA:60386] [KO:K15108] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD20.2 ICD-10: Q02 MeSH: C538247 OMIM: 607196 |
| Reference | PMID:14598172 AUTHORS Palmieri F TITLE The mitochondrial transporter family (SLC25): physiological and pathological implications. JOURNAL Pflugers Arch 447:689-709 (2004) DOI:10.1007/s00424-003-1099-7 PMID:12185364 AUTHORS 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 TITLE Mutant deoxynucleotide carrier is associated with congenital microcephaly. JOURNAL Nat Genet 32:175-9 (2002) DOI:10.1038/ng948 |