Autoimmune polyendocrinopathy type 2

General Information (adopted from Orphanet):

Synonyms, Signs: POLYENDOCRINE AUTOIMMUNE SYNDROME, TYPE II
POLYGLANDULAR AUTOIMMUNE SYNDROME, TYPE II
PGA II
APS II
DIABETES MELLITUS, ADDISON DISEASE, MYXEDEMA
APS2
Autoimmune polyglandular syndrome type 2
Autoimmune thyroid disease and/or type 1 diabetes - Addison disease
schmidt syndrome
APS type 2
Autoimmune polyendocrine syndrome type 2
Number of Symptoms 40
OrphanetNr: 3143
OMIM Id: 269200
ICD-10: E31.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Acquired chronic primary adrenal insufficiency
 -Rare endocrine disease
Acquired premature ovarian failure
 -Rare endocrine disease
 -Rare gynecologic or obstetric disease
Autoimmune polyendocrinopathy
 -Rare endocrine disease

Symptom Information: Sort by abundance 

1
 (HPO:0000518) Cataract 454 / 7739
2
 (HPO:0001096) Keratoconjunctivitis 3 / 7739
3
 (HPO:0000585) Band keratopathy 8 / 7739
4
 (HPO:0001250) Seizures 1245 / 7739
5
 (HPO:0005978) Type II diabetes mellitus 68 / 7739
6
 (HPO:0100651) Type I diabetes mellitus Very frequent [Orphanet] 44 / 7739
7
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
8
 (HPO:0000820) Abnormality of the thyroid gland Very frequent [Orphanet] 19 / 7739
9
 (HPO:0000821) Hypothyroidism 141 / 7739
10
 (HPO:0000829) Hypoparathyroidism Frequent [Orphanet] 22 / 7739
11
 (HPO:0008207) Primary adrenal insufficiency Very frequent [Orphanet] 26 / 7739
12
 (HPO:0000836) Hyperthyroidism 25 / 7739
13
 (HPO:0001746) Asplenia 19 / 7739
14
 (HPO:0001738) Exocrine pancreatic insufficiency 23 / 7739
15
 (HPO:0012115) Hepatitis 24 / 7739
16
 (HPO:0002570) Steatorrhea 31 / 7739
17
 (HPO:0200123) Chronic hepatitis 4 / 7739
18
 (HPO:0001394) Cirrhosis 102 / 7739
19
 (HPO:0001596) Alopecia 162 / 7739
20
 (HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
21
 (HPO:0002728) Chronic mucocutaneous candidiasis 14 / 7739
22
 (HPO:0001053) Hypopigmented skin patches Frequent [Orphanet] 80 / 7739
23
 (HPO:0001891) Iron deficiency anemia 22 / 7739
24
 (HPO:0005354) Absent cellular immunity 2 / 7739
25
 (HPO:0002843) Abnormality of T cells 7 / 7739
26
 (HPO:0002086) Abnormality of the respiratory system 17 / 7739
27
 (HPO:0100522) Thymoma 5 / 7739
28
 (HPO:0005374) Cellular immunodeficiency 5 / 7739
29
 (HPO:0005352) Severe T-cell immunodeficiency 20 / 7739
30
 (HPO:0003011) Abnormality of the musculature Frequent [Orphanet] 47 / 7739
31
 (HPO:0001281) Tetany 20 / 7739
32
 (MedDRA:10023874) Laryngitis 2 / 7739
33
 (OMIM) Adrenal failure 2 / 7739
34
 (OMIM) Candidal granuloma 1 / 7739
35
 (OMIM) Pernicious anemia 3 / 7739
36
 (OMIM) Association of HLA-B8 1 / 7739
37
 (OMIM) Splenic agenesis 2 / 7739
38
 (OMIM) Myxedema 3 / 7739
39
 (OMIM) Chronic pulmonary disease 1 / 7739
40
 (OMIM) Thymic dysplasia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autoimmune polyendocrine syndrome type II (APS2), or Schmidt syndrome, is characterized by the presence of autoimmune Addison disease in association with either autoimmune thyroid disease or type I diabetes mellitus, or both. Chronic candidiasis is not present. APS2 ...
Clinical Description OMIM Carpenter et al. (1964) reviewed the literature on Schmidt syndrome and reported 15 new cases. Of the 15, 10 also had diabetes mellitus, 13 had circulating antibodies against thyroid tissue, and 9 had antibodies against adrenal tissue. ...
Population genetics OMIM Betterle et al. (2004) stated that APS2 is a rare disorder, being described in about 1.4 to 4.5 per 100,000 individuals.