H01232 | |
H number | H01232 |
Name | Syndromic multisystem autoimmune disease |
Description | Syndromic multisystem autoimmune disease is a group of hereditary disorders that have a number of clinical features in addition to autoimmune disease. For example, ADMFD is characterized by organomegaly, failure to thrive, developmental delay, dysmorphic features, and autoimmune inflammatory cell infiltration of the lungs, liver and gut. |
Category | Immune system disease |
Network | - |
Gene | (ADMFD) ITCH [HSA:83737] [KO:K05632] (AILJK) COPA [HSA:1314] [KO:K05236] (AIS6) SIAE [HSA:54414] [KO:K05970] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 4A43.Y MeSH: D001327 OMIM: 613385 616414 613551 |
Reference | PMID:20170897 (ADMFD) AUTHORS Lohr NJ, Molleston JP, Strauss KA, Torres-Martinez W, Sherman EA, Squires RH, Rider NL, Chikwava KR, Cummings OW, Morton DH, Puffenberger EG TITLE Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease. JOURNAL Am J Hum Genet 86:447-53 (2010) DOI:10.1016/j.ajhg.2010.01.028 PMID:25894502 (AILJK) AUTHORS Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, Thamsen M, Santos-Cortez RL, Lee K, Gambin T, Forbes LR, Law CS, Stray-Pedersen A, Cheng MH, Mace EM, Anderson MS, Liu D, Tang LF, Nicholas SK, Nahmod K, Makedonas G, Canter DL, Kwok PY, Hicks J, Jones KD, Penney S, Jhangiani SN, Rosenblum MD, Dell SD, Waterfield MR, Papa FR, Muzny DM, Zaitlen N, Leal SM, Gonzaga-Jauregui C, Boerwinkle E, Eissa NT, Gibbs RA, Lupski JR, Orange JS, Shum AK TITLE COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. JOURNAL Nat Genet 47:654-60 (2015) DOI:10.1038/ng.3279 PMID:20555325 (AIS6) AUTHORS Surolia I, Pirnie SP, Chellappa V, Taylor KN, Cariappa A, Moya J, Liu H, Bell DW, Driscoll DR, Diederichs S, Haider K, Netravali I, Le S, Elia R, Dow E, Lee A, Freudenberg J, De Jager PL, Chretien Y, Varki A, MacDonald ME, Gillis T, Behrens TW, Bloch D, Collier D, Korzenik J, Podolsky DK, Hafler D, Murali M, Sands B, Stone JH, Gregersen PK, Pillai S TITLE Functionally defective germline variants of sialic acid acetylesterase in autoimmunity. JOURNAL Nature 466:243-7 (2010) DOI:10.1038/nature09115 |