KEGG   DISEASE: Syndromic multisystem autoimmune disease
H01232                      Disease                                
Syndromic multisystem autoimmune disease
Multisystem autoimmune disease with facial dysmorphism (ADMFD)
Autoimmune interstitial lung, joint, and kidney disease (AILJK)
Autoimmune disease, susceptibility to (AIS)
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.
Immune system disease
Human diseases [BR:br08402]
 Immune system diseases
  Allergies and autoimmune diseases
   H01232  Syndromic multisystem autoimmune disease
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Nonorgan specific systemic autoimmune disorders
   4A43  Overlap or undifferentiated nonorgan specific systemic autoimmune disease
    H01232  Syndromic multisystem autoimmune disease
hsa04668  TNF signaling pathway
hsa04144  Endocytosis
hsa04120  Ubiquitin mediated proteolysis
(ADMFD) ITCH [HSA:83737] [KO:K05632]
(AILJK) COPA [HSA:1314] [KO:K05236]
(AIS6) SIAE [HSA:54414] [KO:K05970]
Other DBs
ICD-11: 4A43.Y
MeSH: D001327
OMIM: 613385 616414 613551
PMID:20170897 (ADMFD)
Lohr NJ, Molleston JP, Strauss KA, Torres-Martinez W, Sherman EA, Squires RH, Rider NL, Chikwava KR, Cummings OW, Morton DH, Puffenberger EG
Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.
Am J Hum Genet 86:447-53 (2010)
PMID:25894502 (AILJK)
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
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.
Nat Genet 47:654-60 (2015)
PMID:20555325 (AIS6)
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
Functionally defective germline variants of sialic acid acetylesterase in autoimmunity.
Nature 466:243-7 (2010)

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