Amish, Mennonite, and Hutterite
Genetic Disorder Database

Gerodermia Osteodysplastica

Disorder
OMIM #: #231070  (Click to access OMIM database)
Disorder: Gerodermia Osteodysplastica  
Also known as: Walt Disney Dwarfism 
Clinical
Phenotype: other skin abormalities, loose redundant skin, joint hypermobility and/or lax ligaments, growth deficiency, osteoporosis  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Colony Mennonite  
Gene: GORAB
Base Change: G>T, at nucleotide 442
Amino Acid Change: glu 148 --> term
Last updated: 2018-11-01 

References
Hennies HC, Kornak U, Zhang H, Egerer J, Zhang X, Seifert W, Kühnisch J, Budde B, Nätebus M, Brancati F, Wilcox WR, Müller D, Kaplan PB, Rajab A, Zampino G, Fodale V, Dallapiccola B, Newman W, Metcalfe K, Clayton-Smith J, Tassabehji M, Steinmann B, Barr FA, Nürnberg P, Wieacker P, Mundlos S. (2008) Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet Dec;40(12):1410-2.
PubMed ID: 18997784 
Hunter AG, Martsolf JT, Baker CG, Reed MH. (1978) Geroderma osteodysplastica. A report of two affected families. Hum Genet Feb 16;40(3):311-24.
PubMed ID: 631850 

Back