Major Affective Disorder 1
| Disorder | |
|---|---|
| OMIM #: | %125480 (Click to access OMIM database) |
| Disorder: | Major Affective Disorder 1 |
| Also known as: | MAFD1, MANIC-DEPRESSIVE PSYCHOSIS MD1, BIPOLAR AFFECTIVE DISORDER BPAD, MANIC-DEPRESSIVE PSYCHOSIS, AUTOSOMAL |
| Clinical | |
| Phenotype: | Characterized by periods of deep and long depression that alternate with periods of an excessively elevated and/or irritable mood known as mania; bipolar disorder; Symptoms of mania include; increased libido, pressured speech, lowered need for sleep, reckless behaviour |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| ReferencesStrauss KA, Markx S, Georgi B, Paul SM, Jinks RN, Hoshi T, McDonald A, First MB, Liu W, Benkert AR, Heaps AD, Tian Y, Chakravarti A, Bucan M, Puffenberger EG. (2014) A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder. Hum Mol Genet Dec 1;23(23):6395-406. PubMed ID: 24986916 1 Amish |
|
| Gene: | KCNH7 |
| Base Change: | G>A, at nucleotide 1181 |
| Amino Acid Change: | arg 394 --> his |
| Last updated: | 2022-11-05 |
| References |
|---|
| Egeland JA. (1988) A genetic study of manic-depressive disorder among the old order Amish of Pennsylvania. Pharmacopsychiatry Mar;21(2):74-5. PubMed ID: 3164866 |
| Georgi B, Craig D, Kember RL, Liu W, Lindquist I, Nasser S, Brown C, Egeland JA, Paul SM, Bućan M. (2014) Genomic view of bipolar disorder revealed by whole genome sequencing in a genetic isolate. PLoS Genet Mar 13;10(3). PubMed ID: 24625924 |
| Gerhard DS, LaBuda MC, Bland SD, Allen C, Egeland JA, and Pauls DL. (1994) Initial report of a genome search for the affective disorder predisposition gene in the old order Amish pedigrees: chromosomes 1 and 11. Am J Med Genet 54(4): 398-404. PubMed ID: 7726215 |
| Ginns EI, Ott J, Egeland JA, Allen CR, Fann CS, Pauls DL, Weissenbachoff J, Carulli JP, Falls KM, Keith TP, and Paul SM. (1996) A genome-wide search for chromosomal loci linked to bipolar affective disorder in the Old Order Amish. Nat Genet 12(4): 431-435. PubMed ID: 8630500 |
| Hou L, Faraci G, Chen DT, Kassem L, Schulze TG, Shugart YY, McMahon FJ. (2013) Amish revisited: next-generation sequencing studies of psychiatric disorders among the Plain people. Trends Genet Jul;29(7):412-8. PubMed ID: 23422049 |
| LaBuda MC, Maldonado M, Marshall D, Otten K, and Gerhard DS. (1996) A follow-up report of a genome search for affective disorder predisposition loci in the Old Order Amish. Am J Hum Genet 59(6): 1343-1362. PubMed ID: 8940281 |
| Strauss KA, Markx S, Georgi B, Paul SM, Jinks RN, Hoshi T, McDonald A, First MB, Liu W, Benkert AR, Heaps AD, Tian Y, Chakravarti A, Bucan M, Puffenberger EG. (2014) A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder. Hum Mol Genet Dec 1;23(23):6395-406. PubMed ID: 24986916 |
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