Autoinflammatory diseases
What are auto-inflammatory diseases?
| GENETIC | PHENOTYPES | ||||||||
| Acronyme* | OMIM | Locus | Transmission | Disease** | OMIM | Other names | |||
| PSMB8 | Proteasome Subunit, Beta-Type, 8 | 177046 | 6p21.32 | Recessive | PRAAS1 | Proteasome-associated autoinflammatory syndrome 1 | 256040 | CANDLE NKJO ALDD |
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperature syndrome
Nakajo-nishimura syndrome Joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy JMP syndrome Autoinflammation, Lipodystrophy, and Dermatosis syndrome |
| PSMB9 | Proteasome Subunit, Beta-Type, 9 | 177045 | 6p21.32 | Recessive | PRAAS3 | Proteasome-associated autoinflammatory syndrome 3 | 617591 | ||
| PSMB10 | Proteasome Subunit, Beta-Type, 10 | 176847 | 16q22.1 | Recessive | PRAAS5 | Proteasome-associated autoinflammatory syndrome 5 | 619175 | ||
| PSMG2 | Proteasome assembly chaperone 2 | 609702 | 18p11.21 | Recessive | PRAAS4 | Proteasome-associated autoinflammatory syndrome 4 | 619183 | ||
| PSTPIP1 | Proline-Serine-Threonine Phosphatase Interacting Protein 1 | 606347 | 15q24.3 | Dominant | PAPA | Pyogenic sterile arthritis, pyoderma gangrenosum and acne | 604416 | PAPAS FRA |
PAPA syndrome Familial Recurrent Arthritis |
| RBCK1 | Ranbp-Type and C3HC4-Type Zinc Finger-Containing 1 | 610924 | 20p13 | Recessive | PGBM1 | Polyglucosan body myopathy 1 with or without immunodeficiency | 615895 | PBMEI | Polyglucosan Body Myopathy, Early-onset, with or without Immunodeficiency |
| RELA | RELA proto-oncogene, NF-kB subunit | 164014 | 11q13.1 | Dominant | AIFBL3 | Autoinflammatory disease, familial, behcet-like 3 | 618287 | CMCU | Mucocutaneous ulceration, chronic |
| RIPK1 | Receptor interacting serine/threonine kinase 1 | 603453 | 6p25.2 | Dominant | AIEFL | Autoinflammation with episodic fever and lymphadenopathy | 618852 | Cleavage-resistant RIPK1-induced autoinflammatory syndrome CRIA syndrome |
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| RIPK1 | Receptor interacting serine/threonine kinase 1 | 603453 | 6p25.2 | Recessive | IMD57 | Immunodeficiency 57 with autoinflammation | 618108 | ||
| SAMD9L | Sterile alpha motif domain containing 9 like | 611170 | 7q21.2 | Dominant | SAMD9L-SAAD | SAMD9L-associated autoinflammatory disease | |||
| SH3BP2 | SH3-domain binding protein 2 | 602104 | 4p16.3 | Dominant | Cherubism | 118400 | CRBM | ||
| SLC29A3 | Solute carrier family 29 (nucleoside transporter), member 3 | 612373 | 10q22.1 | Recessive | Histiocytosis-lymphadenopathy plus syndrome | 602782 | H Syndrome | ||
| STING1 | Stimulator of interferon response cGAMP interactor 1 | 612374 | 5q31.2 | Dominant | SAVI | Sting-Associated Vasculopathy, Infantile-Onset | 615934 | Autoinflammatory-vasculopathy syndrome | |
| TNFAIP3 | TNF alpha induced protein 3 | 191163 | 6q23.3 | Dominant | AIFBL1 | Autoinflammatory syndrome, familial, Behcet-like 1 | 616744 | AIFBL | |
| TNFRSF1A | Tumor Necrosis Factor Receptor Super Family 1A | 191190 | 12p13.31 | Dominant | FPF | Periodic Fever, Familial, Autosomal Dominant | 142680 | TRAPS FHF |
TNF Receptor Associated Periodic Syndrome Familial Hibernian Fever TNF receptor-associated periodic syndrome |
| TNFRSF11A | Tumor necrosis factor receptor superfamily, member 11A | 603499 | 18q21.33 | Dominant | None yet | ||||
| TRAP1 | TNF receptor associated protein 1 | 606219 | 16p13.3 | Recessive | None yet | ||||
| TRNT1 | tRNA nucleotidyl transferase 1 | 612907 | 3p26.2 | Recessive | SIFD | Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay | 616084 | ||
| UBA1 | Ubiquitin like modifier activating enzyme 1 | 314370 | Xp11.3 | X-linked | VEXAS | VEXAS syndrome | 314370 | ||
| WDR1 | WD repeat domain 1 | 604734 | 4p16.1 | Recessive | PFITS | Periodic Fever, Immunodeficiency, and Thrombocytopenia syndrome | 150550 | Lazy leukocyte syndrome | |
| *Gene name as approved by HUGO | **Disease name as approved by OMIM | ||||||||
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