Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Autoimmune polyendocrinopathy syndrome 2

Autoimmune polyendocrinopathy syndrome 2 is an autosomal dominant disorder linked to the HLA locus. The exact molecular cause of the disease remains to be clarified. The disease is characterised by an autoimmune adrenal insufficiency and additionally at least one of autoimmune thyroiditis or type 1 diabetes mellitus.

Epidemiology

The frequency of the disease is about 1.4 to 4.5 per 100,000 individuals[Error: Macro 'ref' doesn't exist]

Systematic

Autoimmune polyendokrinopathy
Autoimmune polyendocrinopathy syndrome 1
Autoimmune polyendocrinopathy syndrome 2
Autoimmune polyendocrinopathy syndrome 3
Autoimmune polyendocrinopathy syndrome 4
X-linked immunodysregulation, polyendocrinopathy, and enteropathy

References:

1.

Maclaren NK et al. (1986) Inherited susceptibility to autoimmune Addison's disease is linked to human leukocyte antigens-DR3 and/or DR4, except when associated with type I autoimmune polyglandular syndrome.

external link
2.

Betterle C et al. (2004) Autoimmune polyglandular syndrome Type 2: the tip of an iceberg?

external link
3.

SOLOMAN N et al. (1965) SCHMIDT'S SYNDROME (THYROID AND ADRENAL INSUFFICIENCY) AND COEXISTENT DIABETES MELLITUS.

external link
4.

PHAIR JP et al. (1965) DIABETES MELLITUS, ADDISON'S DISEASE AND MYXEDEMA--REPORT OF TWO CASES.

external link
5.

CARPENTER CC et al. (1964) SCHMIDT'S SYNDROME (THYROID AND ADRENAL INSUFFICIENCY). A REVIEW OF THE LITERATURE AND A REPORT OF FIFTEEN NEW CASES INCLUDING TEN INSTANCES OF COEXISTENT DIABETES MELLITUS.

external link
6.

Betterle C et al. (2002) Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction.

external link
7.

Heuss D et al. (1995) Myopathological findings in interstitial myositis in type II polyendocrine autoimmune syndrome (Schmidt's syndrome).

external link
8.

Anderson PB et al. (1980) Familial Schmidt's syndrome.

external link
9.

Butler MG et al. (1984) Linkage analysis in a large kindred with autosomal dominant transmission of polyglandular autoimmune disease type II (Schmidt syndrome).

external link
10.

Bottazzo GF et al. (1974) Islet-cell antibodies in diabetes mellitus with autoimmune polyendocrine deficiencies.

external link
11.

Eisenbarth G et al. (1978) HLA type and occurrence of disease in familial polyglandular failure.

external link
12.

Eisenbarth GS et al. (1979) The polyglandular failure syndrome: disease inheritance, HLA type, and immune function.

external link
13.

Flesch BK et al. (2014) HLA class II haplotypes differentiate between the adult autoimmune polyglandular syndrome types II and III.

external link
14.

Eisenbarth GS et al. (2004) Autoimmune polyendocrine syndromes.

external link
15.

Gambelunghe G et al. (1999) Microsatellite polymorphism of the MHC class I chain-related (MIC-A and MIC-B) genes marks the risk for autoimmune Addison's disease.

external link
16.

Orphanet article

Orphanet ID 85138 external link
17.

OMIM.ORG article

Omim 269200 external link
18.

Wikipedia article

Wikipedia EN (Autoimmune_polyendocrine_syndrome_type_2) external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits