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Genes (17)
Species: human : 17 | |
Human | LOC100507436 | 100507436 | | Title:Additional association of intra-MHC genes, MICA and D6S273, with Addison's disease|Association:Y|Conclusion:Susceptibility to Addison's disease is influenced by the genes around MICA and D6S273 for both the HLA DR3-DQ2 and DR4-DQ8 haplotypes. | Human | ACD | 65057 | adrenocortical dysplasia homolog (mouse) | Sequencing of ACD in 15 patients with clinical features of IMAGe syndrome, adrenal hypoplasia congenita, or congenital adrenal insufficiency revealed no coding mutations, but three novel SNPs were identified | Human | MKS1 | 54903 | Meckel syndrome, type 1 | | Human | PTPN22 | 26191 | protein tyrosine phosphatase, non-receptor type 22 (lymphoid) | Missense mutation in PTPN22 is asssociated with Addison's disease | Human | CLEC16A | 23274 | C-type lectin domain family 16, member A | Two alleles at 16p13 are independently associated with the risk of Addison's disease in the Norwegian population, suggesting this chromosomal region to harbor common autoimmunity gene(s), CLEC16A and CIITA being possible independent candidates | Human | ZMPSTE24 | 10269 | zinc metallopeptidase STE24 | | Human | TBX19 | 9095 | T-box 19 | | Human | WNT3 | 7473 | wingless-type MMTV integration site family, member 3 | | Human | VDR | 7421 | vitamin D (1,25- dihydroxyvitamin D3) receptor | Title:Vitamin D receptor genotype is associated with Addison's disease.|Association:Y|Conclusion:These data suggest that the VDR genotype is associated with Addison's disease. The mechanisms by which distinct receptor variants might confer disease susceptibility remain to be elucidated. | Human | MC2R | 4158 | melanocortin 2 receptor (adrenocorticotropic hormone) | MC2R mutations were found in patients diagnosed with salt-losing forms of adrenal hypoplasia; these changes represent severely disruptive loss-of-function mutations including the first reported homozygous frameshift mutation | Human | LMNA | 4000 | lamin A/C | | Human | HLA-DRB1 | 3123 | | Title:MHC2TA single nucleotide polymorphism and genetic risk for autoimmune adrenal insufficiency|Association:Not Found|Conclusion:Our study provides the first demonstration of the association of the polymorphism of the MHC2TA gene with genetic risk for AAD that appears to be independent from the well-known association with the polymorphism of HLA class II genes. Title:Additional association of intra-MHC genes, MICA and D6S273, with Addison's disease|Association:Y|Conclusion:Susceptibility to Addison's disease is influenced by the genes around MICA and D6S273 for both the HLA DR3-DQ2 and DR4-DQ8 haplotypes. | Human | NR5A1 | 2516 | nuclear receptor subfamily 5, group A, member 1 | adrenal hypoplasia congenita and multiple pituitary hormone deficiency without mutations in the DAX1 or SF1 genes | Human | CTLA4 | 1493 | cytotoxic T-lymphocyte-associated protein 4 | Title:|Association:Not Found|Conclusion:Not Found Title:Polymorphisms in the cytotoxic T lymphocyte antigen-4 gene region confer susceptibility to Addison's disease.|Association:Y|Conclusion:This finding suggests that polymorphisms in CTLA4 confer general risk to develop autoimmunity and identifies a potential therapeutic target in the prevention of autoimmune endocrine disorders. Title:A cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism is associated with autoimmune Addison's disease in English patients.|Association:Y|Conclusion:These results indicate that differences exist in the frequency of the 106 base pair allele in different population groups and in only the English population was the 106 base pair allele associated with Addison's disease. | Human | CRH | 1392 | corticotropin releasing hormone | | Human | AIRE | 326 | autoimmune regulator | Adrenal insufficiency (Addison disease) | Human | NR0B1 | 190 | nuclear receptor subfamily 0, group B, member 1 | 13 novel mutations in the DAX1 protein associated with adrenal hypoplasia gongenita are described study reported patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by the loss of function mutations of the DAX-1 gene Study describes 3 siblings with adrenal hypoplasia congenita, with different phenotypes; molecular analysis detected a novel mutation, a transition of C to T at position 359 in exon 1 of the DAX1 gene, determining a stop codon novel DAX-1 mutation was detected in two family members with different phenotype: one live infant with adrenal hypoplasia, his mother, and probably his dead brother An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation (Q37X) leading to a mild form of X-linked adrenal hypoplasia congenita Three known and two novel mutations were detected in the DAX1 coding sequence in X-linked adrenal hypoplasia congenita patients X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein adrenal hypoplasia congenita and multiple pituitary hormone deficiency without mutations in the DAX1 or SF1 genes |
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