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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