Amish, Mennonite, and Hutterite
Genetic Disorder Database

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, 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:  
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: 2019-07-04 

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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