Amish, Mennonite, and Hutterite
Genetic Disorder Database

Autoimmune disease, multisystem, with facial dysmorphism (ADMFD)

Disorder
OMIM #: #613385  (Click to access OMIM database)
Disorder: Autoimmune disease, multisystem, with facial dysmorphism (ADMFD) 
Also known as: ITCH deficiency 
Clinical
Phenotype: hepatomegaly, developmental delay/mental retardation, splenomegaly, hypotonicity, severe combined immunodeficiency, frontal bossing, flattened midface with a prominent occiput, low-set ears 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: ITCH
Base Change: c.394dupA
Amino Acid Change: Frame shift
Last updated: 2018-12-14 

References
Lohr NJ, Molleston JP, Strauss KA, Torres-Martinez W, Sherman EA, Squires RH, Rider NL, Chikwava KR, Cummings OW, Morton DH, Puffenberger EG. (2010) Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease. Am J Hum Genet 86(3):447-53.
PubMed ID: 20170897 

Back