Autoimmune polyendocrinopathy type 1

General Information (adopted from Orphanet):

Synonyms, Signs: APECED
POLYGLANDULAR AUTOIMMUNE SYNDROME, TYPE I
AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY
POLYGLANDULAR DEFICIENCY SYNDROME, PERSIAN-JEWISH TYPE, INCLUDED
HYPOADRENOCORTICISM WITH HYPOPARATHYROIDISM AND SUPERFICIAL MONILIASIS AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT, INCLUDED
AUTOIMMUNE POLYGLANDULAR SYNDROME, TYPE I
PGA I
APS I
APS1
Autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy syndrome
Autoimmune polyendocrinopathy - candidosis - ectodermal dystrophy syndrome
Autoimmune hypoparathyroidism - chronic candidosis - Addison&#39
s disease
Autoimmune hypoparathyroidism - chronic candidiasis - Addison&#39
s disease
HAM syndrome
Hypoparathyroidism - Addison&#39
s disease - mucocutaneous candidosis
Multiple endocrine deficiency - Addison&#39
s disease - candidosis
Multiple endocrine deficiency - Addison&#39
s disease - candidiasis
APECED syndrome
Hypoparathyroidism - Addison&#39
s disease - mucocutaneous candidiasis
Autoimmune polyglandular syndrome type 1
Autoimmune polyendocrine syndrome type 1
MEDAC syndrome
Number of Symptoms 40
OrphanetNr: 3453
OMIM Id: 240300
ICD-10: E31.0
UMLs:
MeSH: C538275
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[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
Genetic chronic primary adrenal insufficiency
 -Rare endocrine disease
 -Rare genetic disease
Genetic hypoparathyroidism
 -Rare genetic disease
Genetic polyendocrinopathy
 -Rare genetic disease
Immunodeficiency syndrome with autoimmunity
 -Rare genetic disease
 -Rare immune disease
Rare hypoparathyroidism
 -Rare endocrine disease

Symptom Information: Sort by abundance 

1
(HPO:0000134) Female hypogonadism 5 / 7739
2
(HPO:0000135) Hypogonadism 89 / 7739
3
(HPO:0006297) Hypoplasia of dental enamel 64 / 7739
4
(HPO:0001096) Keratoconjunctivitis 3 / 7739
5
(HPO:0000613) Photophobia Very frequent [Orphanet] 158 / 7739
6
(HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
7
(HPO:0000505) Visual impairment Very frequent [Orphanet] 297 / 7739
8
(HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 124 / 7739
9
(HPO:0008221) Adrenal hyperplasia Very frequent [Orphanet] 24 / 7739
10
(HPO:0100651) Type I diabetes mellitus 44 / 7739
11
(HPO:0000829) Hypoparathyroidism Very frequent [Orphanet] 22 / 7739
12
(HPO:0004319) Hypoaldosteronism 9 / 7739
13
(HPO:0008207) Primary adrenal insufficiency Very frequent [Orphanet] 26 / 7739
14
(HPO:0000846) Adrenal insufficiency 24 / 7739
15
(HPO:0002514) Cerebral calcification Occasional [Orphanet] 89 / 7739
16
(HPO:0002014) Diarrhea 225 / 7739
17
(HPO:0001746) Asplenia 19 / 7739
18
(HPO:0001081) Cholelithiasis 36 / 7739
19
(HPO:0002582) Chronic atrophic gastritis 2 / 7739
20
(HPO:0200120) Chronic active hepatitis 4 / 7739
21
(HPO:0002024) Malabsorption 142 / 7739
22
(HPO:0001045) Vitiligo 13 / 7739
23
(HPO:0001006) Hypotrichosis Occasional [Orphanet] 219 / 7739
24
(HPO:0001053) Hypopigmented skin patches Occasional [Orphanet] 80 / 7739
25
(HPO:0002728) Chronic mucocutaneous candidiasis 14 / 7739
26
(HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
27
(HPO:0001596) Alopecia 162 / 7739
28
(HPO:0100659) Abnormality of the cerebral vasculature Very frequent [Orphanet] 25 / 7739
29
(HPO:0001903) Anemia 289 / 7739
30
(HPO:0100530) Abnormality of calcium-phosphate metabolism Very frequent [Orphanet] 12 / 7739
31
(HPO:0002960) Autoimmunity Very frequent [Orphanet] 78 / 7739
32
(OMIM) Hypoaldosteronism, transient, isolated 1 / 7739
33
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
34
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
35
(OMIM) Pernicious anemia 3 / 7739
36
(OMIM) Pituitary defects 1 / 7739
37
(OMIM) Ectodermal dystrophy 1 / 7739
38
(OMIM) Multiple autoantibodies 1 / 7739
39
(MedDRA:10023365) Keratopathy 2 / 7739
40
(HPO:0003621) Juvenile onset 105 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autoimmune polyglandular syndrome type I is characterized by the presence of 2 of 3 major clinical symptoms: Addison disease, and/or hypoparathyroidism, and/or chronic mucocutaneous candidiasis.
Clinical Description OMIM Malabsorption and diarrhea can be very striking and even dominate the clinical picture (Prader, 1972).

Neufeld et al. (1980) recognized 3 types of the polyglandular autoimmune syndrome. Neufeld et al. (1981) collated information on 295 patients ...

Molecular genetics OMIM Nagamine et al. (1997) found 2 mutations in the AIRE gene in Swiss and Finnish APECED patients: (R257X; 607358.0001), found in 10 of 12 alleles in the Finnish patients, and (K83E; 607358.0002). The Finnish-German APECED Consortium (1997) identified ...
Population genetics OMIM Perheentupa (1980) stated that 40 cases of APECED in 28 families had been identified in Finland as compared to less than 100 cases elsewhere in the world. Ahonen (1985) also demonstrated that APECED is part of the 'Finnish ...