Microcephaly, Amish type
| Disorder | |
|---|---|
| OMIM #: | #607196 (Click to access OMIM database) |
| Disorder: | Microcephaly, Amish type |
| Also known as: | Amish lethal microcephaly thiamine metabolism dysfunction syndrome 3 (THMD3) |
| Clinical | |
| Phenotype: | extreme microcephaly, facial appearance similar to anencephaly, micrognathia, hepatomegaly, difficulty maintaining body temperature, lethargy, no psychomotor development, no gyral development, increased levels of 2-ketoglutarate and 2-ketoadipate in urine, sudden death |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | SLC25A19 |
| Base Change: | G>C, at nucleotide 530 |
| Amino Acid Change: | gly 177 --> ala |
| Last updated: | 2022-11-07 |
| References |
|---|
| Kelley RI, Robinson D, Puffenberger EG, Strauss KA, Morton DH. (2002) Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria. Am J Med Genet Nov 1;112(4):318-26. PubMed ID: 12376931 |
| Rosenberg M, Agarwala R, Bouffard G, Davis J, Fiermonte G, Hilliard M, Koch T, Kalikin F, Makalowska I, Morton D, Petty E, Weber J, Palmieri F, Kelley R, Schäffer A, Biesecker L. (2002) Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nat Genet Sep;32(1):175-9. PubMed ID: 12185364 |
| Siu VM, Ratko S, Prasad AN, Prasad C, Rupar CA. (2010) Amish microcephaly: Long-term survival and biochemical characterization. Am J Med Genet A Jul;152A(7):1747-51. PubMed ID: 20583149 |
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