Autoimmune disease, multisystem, with facial dysmorphism
| Disorder | |
|---|---|
| OMIM #: | #613385 (Click to access OMIM database) |
| Disorder: | Autoimmune disease, multisystem, with facial dysmorphism |
| Also known as: | ADMFD ITCH deficiency |
| Clinical | |
| Phenotype: | short stature, hepatomegaly, developmental delay, splenomegaly, hypotonia, severe combined immunodeficiency, macrocephaly, frontal bossing, midfacial hypoplasia, prominent occiput, micrognathia, low-set ears, proptosis, chronic lung disease |
| 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: | p.Ile132Asnfs*9 |
| Last updated: | 2023-02-01 |
| 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 |
| Wolfe R, Heiman P, D'Annibale O, Karunanidhi A, Powers A, Mcguire M, Seminotti B, Dobrowolski SF, Reyes-Múgica M, Torok KS, Mohsen AW, Vockley J, Ghaloul-Gonzalez L. (2022) ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction. Mol Genet Metab Rep Oct 29;33:100932. PubMed ID: 36338154 |
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