Autoinflammatory diseases
What are auto-inflammatory diseases?

GENETIC PHENOTYPES
Acronyme*   OMIM Locus Transmission Disease**   OMIM Other names
IL36RN Interleukin 36 receptor antagonist 605507 2q13 Recessive PSORP14 Psoriasis 14, pustular 614204 DITRA

GPP
PSORP		 Interleukin 36 receptor antagonist deficiency
Generalized Pustular Psoriasis

Acrodermatitis continua of Hallopeau
Palmoplantar pustulosis
LACC1 Laccase (multicopper reductase) domain-containing protein 1 613409 13q14.11 Recessive JUVAR Juvenile Arthritis 618795  
LPIN2 LIPIN 2 605519 18p11.31 Recessive MJDS Majeed syndrome 609628 CRMO1 Chronic Recurrent Multifocal Osteomyelitis 1, with congenital dyserythropoietic anemia, with or without neutrophilic dermatosis
LYN LYN proto-oncogene, Src family tyrosine kinase 165120 8q12.1 Dominant SAIDV Autoinflammatory disease, systemic, with vasculitis 620376 LAVLI syndrome
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 HyperImmunoglobulinemia D and periodic fever Syndrome
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, multiple types 175900 DSAP1 Porokeratosis, Disseminated Duperficial Actinic
NCSTN Nicastrin 605254 1q23.2 Dominant ACNINV1 Acne inversa, familial, 1 142690 Acne inversa, familial
Hidradenitis suppurativa, familial
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    
NLRC4 NLR family, caspase recruitment domain-containing 4 606831 2p22.3 Dominant FCAS4 Familial cold autoinflammatory syndrome 4 616115    
NLRP1 NLR pyrin domain containing protein 1 606636 17p13.2 Dominant/Recessive AIADK Autoinflammation with arthritis and dyskeratosis 617388    
NLRP12 NLR pyrin domain containing protein 12 609648 19q13.42 Dominant FCAS2 Familial Cold Autoinflammatory Syndrome 2 611762 NAPS12 NLRP12 Associated Periodic Syndrome
*Gene name as approved by HUGO **Disease name as approved by OMIM
 
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