APECED is an autoimmune disorder characterized by adrenal gland insufficiency, hypoparathyroidism, and/or chronic mucocutaneous candidiasis. It is caused by mutations in the AIRE gene.
Endocrine, nutritional and metabolic diseases
Disorders of other endocrine glands
"Autosomal recessive Autosomal dominant"
21q22.3
APECED is an autoimmune disorder characterized by adrenal gland insufficiency, hypoparathyroidism, and/or chronic mucocutaneous candidiasis. It is caused by mutations in the AIRE gene.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 240300.1.1 | Saudi Arabia | Female | Yes | No | Adrenal insufficiency; Hypoparathyroidi... Adrenal insufficiency; Hypoparathyroidism; Chronic mucocutaneous candidiasis; Alopecia universalis;  | NM_000383.2:c.1236_1239dup | Homozygous | Autosomal, Recessive | Faiyaz-Ul-Haque et al, 2009 | |
| 240300.1.2 | Saudi Arabia | Female | Yes | No | Adrenal insufficiency; Hypoparathyroid... Adrenal insufficiency; Hypoparathyroidism; Chronic mucocutaneous candidiasis; Nephrocalcinosis; Primary gonadal insufficiency; | NM_000383.2:c.1236_1239dup | Homozygous | Autosomal, Recessive | Faiyaz-Ul-Haque et al, 2009 | Sister of 240300.1.2 |
| 240300.2.1 | Saudi Arabia | Male | Yes | No | Hypoparathyroidism; Chronic mucocutaneo... Hypoparathyroidism; Chronic mucocutaneous candidiasis; Alopecia universalis; Type I diabetes mellitus; ; | NM_000383.2:c.93_94insT | Homozygous | Autosomal, Recessive | Faiyaz-Ul-Haque et al, 2009 | First cousin of 2403... |
| 240300.2.2 | Saudi Arabia | Male | Yes | No | Hypoparathyroidism; Hypothyroidism; ; ; Hypoparathyroidism; Hypothyroidism; ; ; | NM_000383.2:c.93_94insT | Homozygous | Autosomal, Recessive | Faiyaz-Ul-Haque et al, 2009 | |
| 240300.2.3 | Saudi Arabia | Female | Yes | No | Adrenal insufficiency; Hypoparathyroidi... Adrenal insufficiency; Hypoparathyroidism; Hypothyroidism; Chronic mucocutaneous candidiasis; Alopecia universalis; Nephrocalcinosis; ; ; ; | NM_000383.2:c.93_94insT | Homozygous | Autosomal, Recessive | Faiyaz-Ul-Haque et al, 2009 | Sister of 240300.2.2 |
| 240300.2.4 | Saudi Arabia | Male | Yes | No | Hypoparathyroidism; ; Hypoparathyroidism; ; | NM_000383.2:c.93_94insT | Homozygous | Autosomal, Recessive | Faiyaz-Ul-Haque et al, 2009 | Brother of 240300.2.... |
| 240300.2.5 | Saudi Arabia | Male | Yes | No | Hypoparathyroidism; ; Chronic mucocutan... Hypoparathyroidism; ; Chronic mucocutaneous candidiasis; Alopecia universalis; Diabetes mellitus; ; | NM_000383.2:c.93_94insT | Homozygous | Autosomal, Recessive | Faiyaz-Ul-Haque et al, 2009 | First cousin of 2403... |
| 240300.3 | Saudi Arabia | Female | No | Yes | Hypoparathyroidism; ; Hypoparathyroidism; ; | NM_000383.3:c.205_208dup | Homozygous | Autosomal, Recessive | Faiyaz-Ul-Haque et al, 2009 | |
| 240300.4 | Saudi Arabia | Male | No | Yes | Adrenal insufficiency; Hypoparathyroidi... Adrenal insufficiency; Hypoparathyroidism; Chronic mucocutaneous candidiasis; ; ; | NM_000383.3:c.205_208dup | Homozygous | Autosomal, Recessive | Faiyaz-Ul-Haque et al, 2009 | |
| 240300.5 | Saudi Arabia | Female | Yes | Yes | Adrenal insufficiency; Hypoparathyroidi... Adrenal insufficiency; Hypoparathyroidism; Chronic mucocutaneous candidiasis; Alopecia universalis; ; ; | NM_000383.3:c.1A>G | Homozygous | Autosomal, Recessive | Faiyaz-Ul-Haque et al, 2009 | Affected sister not ... |
| 240300.6 | Saudi Arabia | Male | Yes | Yes | Hypoparathyroidism; Chronic mucocutaneo... Hypoparathyroidism; Chronic mucocutaneous candidiasis; ; ; ; | NM_000383.3:c.845_846insC | Homozygous | Autosomal, Recessive | Faiyaz-Ul-Haque et al, 2009 | Affected first cousi... |
| 240300.7 | Arab | Unknown | | NM_000383.3:c.205_208dup | Homozygous | Autosomal, Recessive | Heino et al, 1999 | |||
| 240300.8 | Lebanon | Unknown | Yes | | NM_000383.4:c.278T>A | Homozygous | Autosomal, Recessive | Jalkh et al. 2019 |
Traboulsi et al (1985) decribed a family with two siblings affected by Candidiasis-Endocrinopathy Syndrome. Addison's disease was absent in both siblings. However, they had characteristic ocular findings, including photophobia, blepharospasm, and corneal opacities.