Autoinflammatory diseases
What are auto-inflammatory diseases?
GENETIC | PHENOTYPES | ||||||||
Acronyme* | OMIM | Locus | Transmission | Disease** | OMIM | Other names | |||
MEFV | MEditerranean FeVer | 608107 | 16p13.3 | Recessive | FMF | Familial Mediterranean Fever | 249100 | Familial Mediterranean Fever, autosomal recessive Polyserositis, recurrent Polyserositis, familial paroxysmal |
|
MEFV | MEditerranean FeVer | 608107 | 16p13.3 | Dominant | AFND | Neutrophilic Dermatosis, Acute Febrile | 608068 | PAAND SS |
Pyrin-Associated Autoinflammatory Disease Sweet Syndrome Gomm-Button disease |
MVK | Mevalonate Kinase | 251170 | 12q24.11 | Recessive | HIDS | Hyper IgD Syndrome | 260920 | Periodic Fever, Dutch Type | |
MVK | Mevalonate Kinase | 251170 | 12q24.11 | Recessive | MEVA | Mevalonic Aciduria | 610377 | ||
MVK | Mevalonate Kinase | 251170 | 12q24.11 | Dominant | POROK3 | Porokeratosis 3, Disseminated Superficial Actinic Type | 175900 | DSAP | Disseminated Superficial Actinic Porokeratosis |
NCSTN | Nicastrin | 605254 | 1q23.2 | Dominant | ACNINV1 | Acne inversa, familial, 1 | 142690 | ||
NCSTN | Nicastrin | 605254 | 1q23.2 | Dominant | PASH | Pyoderma gangrenosum, Acne and Suppurative Hidradenitis | |||
NLRC4 | NLR family, caspase recruitment domain-containing 4 | 606831 | 2p22.3 | Dominant | AIFEC | Autoinflammation with infantile enterocolitis | 616050 | ||
NLRP1 | NLR pyrin domain containing protein 1 | 606636 | 17p13.2 | Dominant/Recessive | AIADK | Autoinflammation with arthritis and dyskeratosis | 617388 | ||
NLRP1 | NLR pyrin domain containing protein 1 | 606636 | 17p13.2 | Dominant | MSPC | palmoplantar carcinoma, multiple self-healing | 615225 | ||
NLRP12 | NLR pyrin domain containing protein 12 | 609648 | 19q13.42 | Dominant | FCAS2 | Familial Cold Autoinflammatory Syndrome 2 | 611762 | NAPS12 | NLRP12 Associated Periodic Syndrome |
NLRP3 | NLR pyrin domain containing protein 3 | 606416 | 1q44 | Dominant | FCAS1 | Familial Cold Autoinflammatory Syndrome 1 | 120100 | CAPS1 FCU |
CIAS1 associated periodic syndrome 1 Familial cold urticaria |
NLRP3 | NLR pyrin domain containing protein 3 | 606416 | 1q44 | Dominant | MWS | Muckle-Wells Syndrome | 191900 | CAPS2 | CIAS1 associated periodic syndrome 2 |
NLRP3 | NLR pyrin domain containing protein 3 | 606416 | 1q44 | Dominant | CINCA | Chronic Infantile Neurological Cutaneous and Articular Syndrome | 607115 | CAPS3
NOMID |
CIAS1 associated periodic syndrome 3 Neonatal Onset Multisystem Inflammatory Disease |
NLRP7 | NLR pyrin domain containing protein 7 | 609661 | 19q13.42 | Recessive | HYDM1 | Hydatidiform Mole, Recurrent, 1 | 231090 | RHM | Recurrent hydatiform moles |
*Gene name as approved by HUGO | **Disease name as approved by OMIM | ||||||||
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