Autoimmune Disease, Multisystem, With Facial Dysmorphism; Admfd

Genes related to Autoimmune Disease, Multisystem, With Facial Dysmorphism; Admfd

ITCH

Clinical Features

Top most frequent phenotypes and symptoms related to Autoimmune Disease, Multisystem, With Facial Dysmorphism; Admfd

Global developmental delay
Generalized hypotonia
Pica
Failure to thrive
Ptosis
Abnormal facial shape
Low-set ears
Hepatomegaly
Macrocephaly
Frontal bossing

And another 24 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Not enough data available about incidence and published cases.

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Autoimmune Disease, Multisystem, With Facial Dysmorphism; Admfd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ALPS/autoimmunity panel. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. CASP8, AIRE, KRAS, NRAS, FOXP3, FAS, FASLG, CASP10, LRBA, FADD, IL2RA, ITCH Specificity 9 % Genes 100 %
Immune dysregulation Panel. By CeGaT GmbH in Germany. CASP8, AP3B1, AIRE, PRF1, TREX1, FOXP3, LYST, SH2D1A, RAB27A, UNC13D, FAS, STX11, XIAP, FASLG, CASP10, STXBP2, PRKCD, CARD11, IL2RA, ITCH , (...) View the complete list with 2 more genes Panel GTR000528899 complete gene list CASP8, AP3B1, AIRE, PRF1, TREX1, FOXP3, LYST, SH2D1A, RAB27A, UNC13D, FAS, STX11, XIAP, FASLG, CASP10, STXBP2, PRKCD, CARD11, IL2RA, ITCH, FCGR2B, AOAH Specificity 5 % Genes 100 %
Invitae Monogenic Autoimmunity Panel. By Invitae in United States. STAT1, CASP8, AP3B1, UNG, CYBA, STAT3, PNP, AIRE, RMRP, PRF1, CYBB, SLC7A7, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1 , (...) View the complete list with 53 more genes Panel GTR000553746 complete gene list STAT1, CASP8, AP3B1, UNG, CYBA, STAT3, PNP, AIRE, RMRP, PRF1, CYBB, SLC7A7, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1, FOXP3, BLOC1S6, LYST, DOCK8, IFIH1, ADAR, SH2D1A, NCF2, NCF4, RAB27A, STIM1, TNFRSF13B, AICDA, CD40LG, UNC13D, FAS, STX11, XIAP, FASLG, CASP10, STXBP2, RAC2, STAT5B, ORAI1, PIK3CD, LRBA, NFKBIA, FADD, CD27, RFX5, RFXANK, RFXAP, NFKB2, CTLA4, IL10RA, PIK3R1, TPP2, CR2, ICOS, IL10RB, TNFRSF13C, ADA2, PRKCD, TMEM173, IL2RA, IL10, ACP5, PLCG2, IL21, IL21R, ITCH, TNFSF12, NFAT5 Specificity 2 % Genes 100 %
Invitae Primary Immunodeficiency Panel. By Invitae in United States. PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...) View the complete list with 187 more genes Panel GTR000553783 complete gene list PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE, CHD7, RMRP, TINF2, ATM, NBN, GATA2, PRF1, CYBB, DCLRE1C, SLC7A7, RTEL1, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, VPS13B, ACTB, NLRP3, SEMA3E, MVK, FOXP3, MAGT1, DKC1, CTSC, BLOC1S6, LYST, TBK1, TERC, TERT, PARN, DOCK8, CSF2RA, PSMB8, IFIH1, ADAR, MEFV, SH2D1A, NCF2, NCF4, JAK3, SH3BP2, CTC1, NHP2, NOP10, NOD2, SLC29A3, FERMT3, RAB27A, STIM1, MYD88, CSF3R, TNFRSF13B, AICDA, CD40LG, IFNGR1, IFNGR2, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, POLE, UNC13D, FAS, STX11, ELANE, XIAP, FASLG, CASP10, STXBP2, ITK, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1, LPIN2, PIK3CD, IRAK4, LRBA, NFKBIA, FADD, CD27, WIPF1, CIITA, IL12RB1, RFX5, RFXANK, RFXAP, STK4, TNFRSF1A, NFKB2, CTLA4, EPG5, IL10RA, IL17F, JAGN1, NLRC4, SMARCAL1, TTC7A, PIK3R1, TPP2, ACD, CARD9, CR2, ICOS, IL10RB, PRKDC, TNFRSF13C, TYK2, ADA2, IL12B, ISG15, PRKCD, PSTPIP1, PGM3, UNC93B1, TRAF3, TICAM1, NLRP12, TMEM173, CARD11, IL2RA, DNMT3B, CLPB, TRNT1, SPINK5, IL36RN, CARD14, IL1RN, IL10, ACP5, RBCK1, PLCG2, B2M, BLNK, CD79A, IGLL1, CD79B, ITGB2, TMC6, TMC8, CEBPE, COPA, IL21, IL21R, MALT1, TRAF3IP2, IL17RA, CD3G, CORO1A, STAT2, ITCH, CD8A, CD247, IRF8, BCL10, ADAM17, ZBTB24, CTPS1, LCK, IKBKB, TNFSF12, SP110, FPR1, RHOH, TNFRSF4, TAP2, TAPBP, IL17RC, NFAT5, MAP3K14, DOCK2, DCLRE1B, RORC, IRF7 Specificity 1 % Genes 100 %
ITCH. By Fulgent Genetics Fulgent Genetics in United States. ITCH Specificity 100 % Genes 100 %
CEN4GEN Breast cancer: Extended gene sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. BRCA1, BRCA2, PTEN, TP53, RB1, RET, SEPT9, FGFR2, ATM, CDH1, CDKN2A, FGFR1, GATA3, NEK2, ERBB3, EP300, BAP1, PIK3CA, EGFR, AKT1 , (...) View the complete list with 25 more genes Panel GTR000560392 complete gene list BRCA1, BRCA2, PTEN, TP53, RB1, RET, SEPT9, FGFR2, ATM, CDH1, CDKN2A, FGFR1, GATA3, NEK2, ERBB3, EP300, BAP1, PIK3CA, EGFR, AKT1, EXT2, IRAK4, PIK3R1, MAP3K1, MDM2, ERBB2, CBFB, MYC, ITCH, KMT2C, ESR1, MUC16, NCOR1, EXOC2, FBXO32, PBRM1, PCGF2, MAP2K4, PPM1L, TRAF5, ZNF226, ZBED4, PTGFR, ACVR1B, WEE1 Specificity 3 % Genes 100 %

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