loading...| Preferred Name |
AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA |
|
| Synonyms |
POLYGLANDULAR AUTOIMMUNE SYNDROME, TYPE I |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/240300 |
|
| altLabel |
POLYGLANDULAR AUTOIMMUNE SYNDROME, TYPE I AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY AUTOIMMUNE POLYGLANDULAR SYNDROME, TYPE I PGA I APS I APS1 APECED POLYGLANDULAR DEFICIENCY SYNDROME, PERSIAN-JEWISH TYPE HYPOADRENOCORTICISM WITH HYPOPARATHYROIDISM AND SUPERFICIAL MONILIASIS |
|
| cui |
C1855869 C0085859 C1855868 |
|
| Gene Locus |
21q22.3 |
|
| Gene Symbol |
APECED AIRE APS1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU036686 http://purl.bioontology.org/ontology/OMIM/MTHU048969 http://purl.bioontology.org/ontology/OMIM/MTHU006713 http://purl.bioontology.org/ontology/OMIM/MTHU012244 http://purl.bioontology.org/ontology/OMIM/MTHU009745 http://purl.bioontology.org/ontology/OMIM/MTHU005166 http://purl.bioontology.org/ontology/OMIM/MTHU012246 http://purl.bioontology.org/ontology/OMIM/MTHU012237 http://purl.bioontology.org/ontology/OMIM/MTHU036934 http://purl.bioontology.org/ontology/OMIM/MTHU048968 http://purl.bioontology.org/ontology/OMIM/MTHU012245 http://purl.bioontology.org/ontology/OMIM/MTHU011379 http://purl.bioontology.org/ontology/OMIM/MTHU000226 http://purl.bioontology.org/ontology/OMIM/MTHU012236 http://purl.bioontology.org/ontology/OMIM/MTHU048965 http://purl.bioontology.org/ontology/OMIM/MTHU000132 http://purl.bioontology.org/ontology/OMIM/MTHU012239 http://purl.bioontology.org/ontology/OMIM/MTHU012243 http://purl.bioontology.org/ontology/OMIM/MTHU001845 http://purl.bioontology.org/ontology/OMIM/MTHU011729 http://purl.bioontology.org/ontology/OMIM/MTHU012235 http://purl.bioontology.org/ontology/OMIM/MTHU012241 http://purl.bioontology.org/ontology/OMIM/MTHU012238 http://purl.bioontology.org/ontology/OMIM/MTHU048967 http://purl.bioontology.org/ontology/OMIM/MTHU012247 http://purl.bioontology.org/ontology/OMIM/MTHU037538 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
263620 |
|
| notation |
240300 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA |
|
| Scope Statement |
Prevalence in Finland is 1 in 25,000 [MISCELLANEOUS] Prevalence in Poland is 1 in 129,000 [MISCELLANEOUS] Autosomal dominant inheritance has been reported in a single family [MISCELLANEOUS] Candidiasis is usually the first symptom [MISCELLANEOUS] Manifestations continue to appear until 5th decade [MISCELLANEOUS] Caused by mutation in the autoimmune regulator gene (AIRE, 607358.0001) [MOLECULAR BASIS] Prevalence in Sardinia is 1 in 14,000 [MISCELLANEOUS] Onset in childhood [MISCELLANEOUS] Prevalence in Slovenia is 1 in 43,000 [MISCELLANEOUS] Prevalence in Norway is 1 in 80,000 [MISCELLANEOUS] |
|
| tui |
T047 |