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  2. Nakajo-Nishimura syndrome

Nakajo-Nishimura syndrome

Disease Export to PDF
Name:
Nakajo-Nishimura syndrome
Description:
Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.
ORPHAcode:
2615
Synonyms:
Amyotrophy-fat tissue anomaly syndrome
NNS
Secondary hypertrophic osteoperiostosis with pernio
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
PSMB8
Created:
13 May 2019 - 01:02
Changed:
01 Feb 2020 - 12:07
  • Periodic Fever (88 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACP5 0.00 0 ,
    ADAM17 0.00 0 ,
    ADAR 0.00 0 ,
    AP1S3 0.00 0 ,
    CARD14 0.00 0 ,
    CASP1 0.00 0 ,
    CASP10 0.00 0 ,
    CDC42 0.00 0 ,
    CEBPE 0.00 0 ,
    ADA2 0.00 0 ,
    COPA 0.00 0 ,
    RIGI 0.00 0 ,
    DNASE2 0.00 0 ,
    DOCK8 0.00 0 ,
    ELF4 0.00 0 ,
    ADGRE2 0.00 0 ,
    F12 0.00 0 ,
    OTULIN 0.00 0 ,
    FAS 0.00 0 ,
    FASLG 0.00 0 ,
    FBLIM1 0.00 0 ,
    HMOX1 0.00 0 ,
    IFIH1 0.00 0 ,
    IKBKG 0.00 0 ,
    IL10 0.00 0 ,
    IL10RA 0.00 0 ,
    IL10RB 0.00 0 ,
    IL1RN 0.00 0 ,
    IL36RN 0.00 0 ,
    LACC1 0.00 0 ,
    LPIN2 0.00 0 ,
    LSM11 0.00 0 ,
    LYN 0.00 0 ,
    MDFIC 0.00 0 ,
    MEFV 0.00 0 ,
    MVK 0.00 0 ,
    NCKAP1L 0.00 0 ,
    NCSTN 0.00 0 ,
    NLRC4 0.00 0 ,
    NLRP1 0.00 0 ,
    NLRP12 0.00 0 ,
    NLRP3 0.00 0 ,
    NLRP7 0.00 0 ,
    NOD2 0.00 0 ,
    PLCG2 0.00 0 ,
    POLA1 0.00 0 ,
    POMP 0.00 0 ,
    PSENEN 0.00 0 ,
    PSMA3 0.00 0 ,
    PSMB10 0.00 0 ,
    PSMB4 0.00 0 ,
    PSMB8 0.00 0 ,
    PSMB9 0.00 0 ,
    PSMG2 0.00 0 ,
    PSTPIP1 0.00 0 ,
    PTEN 0.00 0 ,
    PYCARD 0.00 0 ,
    RBCK1 0.00 0 ,
    RELA 0.00 0 ,
    RIPK1 0.00 0 ,
    RNASEH2A 0.00 0 ,
    RNASEH2B 0.00 0 ,
    RNASEH2C 0.00 0 ,
    RNF213 0.00 0 ,
    RNF31 0.00 0 ,
    RNU7-1 0.00 0 ,
    SAMD9L 0.00 0 ,
    SAMHD1 0.00 0 ,
    SERPING1 0.00 0 ,
    SH3BP2 0.00 0 ,
    SHARPIN 0.00 0 ,
    SLC29A3 0.00 0 ,
    STAT2 0.00 0 ,
    SYK 0.00 0 ,
    STING1 0.00 0 ,
    TNFAIP3 0.00 0 ,
    TNFRSF11A 0.00 0 ,
    TNFRSF1A 0.00 0 ,
    TNFRSF9 0.00 0 ,
    TRAP1 0.00 0 ,
    TREX1 0.00 0 ,
    TRNT1 0.00 0 ,
    UBA1 0.00 0 ,
    UNC13B 0.00 0 ,
    USP18 0.00 0 ,
    WAS 0.00 0 ,
    WDR1 0.00 0 ,
    XIAP 0.00 0 ,