GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Select a RGD Category for details 

RGDs registry under the 'Immune disorders'
S.No.  Genetic Disorders Aliases Sub-Category Gene symbol  Links Indian
context
1 Familial Cold Autoinflammatory Syndrome •Cold urticaria
 Autoinflammatory diseases NLRP12 NLR family pyrin domain containing 12
NLRP3 NLR family pyrin domain containing 3
PLCG2 phospholipase C gamma 2
NLRC4 NLR family CARD domain containing 4
 PubMed Reports
2 Ankylosing spondylitis •Spondyloarthropathy
 Rheumatoid arthritis PTGER4 prostaglandin E receptor 4
 PubMed Reports
3 Metaphyseal chondrodysplasia, Jansen type Primary immunodeficiencies PTH1R parathyroid hormone 1 receptor
 PubMed Reports
4 Metaphyseal chondrodysplasia, McKusick type •Cartilage hair hypoplasia
•Cartilage-hair hypoplasia
•McKusick type
 Primary immunodeficiencies RMRP RNA component of mitochondrial RNA processing endoribonuclease
 PubMed Reports
5 Common variable immune deficiency B cell deficiency CD19 CD19 molecule
TNFRSF13B TNF receptor superfamily member 13B
TNFRSF13C TNF receptor superfamily member 13C
 PubMed Reports
6 Sjogren Syndrome •Sjögren’s Syndrome
 Autoimmune disorders IRF5 interferon regulatory factor 5
 PubMed Reports
7 BENTA disease •B-cell expansion with NFKB and T-cell anergy
 Combined T and B cell immunodeficiency (Blood disorders) CARD11 caspase recruitment domain family member 11
 PubMed Reports
8 Chronic granulomatous disease Primary immunodeficiencies CYBB cytochrome b-245 beta chain
NCF4 neutrophil cytosolic factor 4
NCF2 neutrophil cytosolic factor 2
 PubMed Reports
9 Common variable immunodeficiency B cell deficiency TTC7A tetratricopeptide repeat domain 7A
NFKB1 nuclear factor kappa B subunit 1
RAG2 recombination activating 2
 PubMed Reports
10 Cryopyrin associated periodic syndrome •Cryopyrin-associated periodic syndrome
•CAPS
•Cryopyrinopathy
•NLRP3-associated systemic autoinflammatory disease
 Autoinflammatory diseases NLRP3 NLR family pyrin domain containing 3
 PubMed Reports
11 Familial mediterranean fever Autoinflammatory diseases MEFV MEFV innate immunity regulator, pyrin
 PubMed Reports
12 Goodpasture syndrome Primary immunodeficiencies COL4A3 collagen type IV alpha 3 chain
 PubMed Reports
13 Granulomatosis with polyangiitis •Midline granulomatosis
•Wegener Granulomatosis
•Wegener's granulomatosis
 Primary immunodeficiencies CTLA4 cytotoxic T-lymphocyte associated protein 4
PRTN3 proteinase 3
 PubMed Reports
14 Systemic lupus erythematosus •Lupus nephritis
 Primary immunodeficiencies IRF5 interferon regulatory factor 5
BLK BLK proto-oncogene, Src family tyrosine kinase
TREX1 three prime repair exonuclease 1
SOCS1 suppressor of cytokine signaling 1
TLR7 toll like receptor 7
 PubMed Reports
15 Scleroderma Autoimmune disorders EXOSC10 exosome component 10
 PubMed Reports
16 Severe combined immunodeficiency due to DCLRE1C deficiency •SCID due to ARTEMIS deficiency
 Primary immunodeficiencies DCLRE1C DNA cross-link repair 1C
LIG4 DNA ligase 4
 PubMed Reports
17 TNF receptor-associated periodic fever syndrome •TRAPS syndrome
•Familial Hibernian fever
•Tumor necrosis factor receptor 1 associated periodic syndrome
 Autoinflammatory diseases TNFRSF1A TNF receptor superfamily member 1A
 PubMed Reports
18 Transverse myelitis Inflammatory diseases VPS37A VPS37A subunit of ESCRT-I
 PubMed Reports
19 Vasculitis Inflammatory diseases ADA2 adenosine deaminase 2
 PubMed Reports
20 Wiskott-Aldrich syndrome •Wiskott Aldrich syndrome
 Primary immunodeficiencies WAS WASP actin nucleation promoting factor
WIPF1 WAS/WASL interacting protein family member 1
 PubMed Reports
21 Blau syndrome •Arthrocutaneouveal granulomatosis
 Autoimmune diseases NOD2 nucleotide binding oligomerization domain containing 2
 PubMed Reports
22 STING-associated vasculopathy with onset in infancy •SAVI
 Autoinflammatory diseases STING1 stimulator of interferon response cGAMP interactor 1
 PubMed Reports
23 Sarcoidosis •Besnier-Boeck-Schaumann disease
•Boeck sarcoid
 BTNL2 butyrophilin like 2
 PubMed Reports
24 Properdin deficiency Primary immunodeficiencies CFP complement factor properdin
 PubMed Reports
25 Deafness-lymphedema-leukemia syndrome •Emberger syndrome
•Hearing loss-lymphedema-leukemia syndrome
 GATA2 GATA binding protein 2
 PubMed Reports
26 Autoerythrocyte sensitization syndrome •Gardner-Diamond syndrome
•Painful bruising syndrome
•Psychogenic purpura
•Gardner Diamond syndrome
•GDS
 Autoimmune diseases CRP C-reactive protein
 PubMed Reports
27 Autoimmune lymphoproliferative syndrome •ALPS
•Canale-Smith syndrome
•Autoimmune lymphoproliferative syndrome type 1
 Autoimmune disorders CASP8 caspase 8
FASLG Fas ligand
FAS Fas cell surface death receptor
PRKCD protein kinase C delta
CTLA4 cytotoxic T-lymphocyte associated protein 4
CASP10 caspase 10
 PubMed Reports
28 MHC class II deficiency •Immunodeficiency by defective expression of MHC class II
•Bare lymphocyte syndrome type 2
•Bare lymphocyte syndrome, type II, complementation group a
•Bare Lymphocyte Syndrome
•Bare lymphocyte syndrome 2
•SCID, HLA CLASS II-NEGATIVE
•SCID, HLA Class 2-Negative
•Severe combined immunodeficiency, HLA class II negative
 Primary immunodeficiencies RFXANK regulatory factor X associated ankyrin containing protein
RFX5 regulatory factor X5
RFXAP regulatory factor X associated protein
CIITA class II major histocompatibility complex transactivator
 PubMed Reports
29 X-linked agammaglobulinemia •BTK-deficiency
•Bruton type agammaglobulinemia
•Agammaglobulinemia, X-linked, type 1
•Agammaglobulinemia, BTK
•Agammaglobulinemia, Bruton tyrosine kinase
•Bruton's agammaglobulinemia
•Bruton-type agammaglobulinemia
•Immunodeficiency 1
 Primary immunodeficiencies BTK Bruton tyrosine kinase
 PubMed Reports

 
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