Autoimmune polyendocrinopathy type 4




Input patient's signs and symptoms


Narrow down the case reports



Total: 3 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(46.6%)
25548690
(4274913)
Successful management of insulin allergy and autoimmune polyendocrine syndrome type 4 with desensitization therapy and glucocorticoid treatment: a case report and review of the literature.
Rojas J, Villalobos M, Martinez MS, Chavez-Castillo M, Torres W, Mejias JC, Miquilena E, Bermudez V.
Case Reports Immunol. 2014;2014:394754.
Diabetes mellitus Vitiligo Anemia Gastritis
INS
2
(15.4%)
21250496
[Autoimmune polyendocrine syndrome type 2 associated with autoimmune hypophysitis and coeliac disease].
Hrubiskova K, Jackuliak P, Vanuga P, Pura M, Payer J.
Vnitr Lek. 2010;56(11):1169-76.
Diabetes mellitus Thyroiditis
AIRE
Adult Autoimmune Diseases Celiac Disease Females Homo sapiens Pituitary Diseases Polyendocrinopathies, Autoimmune
3
(5.0%)
22039674
[Atypical clinical presentation of autoimmune polyglandular syndrome type 4].
Krysiak R, Kobielusz-Gembala I, Okopien B.
Przegl Lek. 2011;68(6):339-41.
Hypoparathyroidism
Adult Diabetes Mellitus, Insulin-Dependent Females Homo sapiens Polyendocrinopathies, Autoimmune
        

Phenotype(s) retrieved from Orphanet

    Total: 32

HPO ID Term Frequency
HP:0002960 Autoimmunity Obligate (100%)
HP:0001972 Macrocytic anemia Frequent (79-30%)
HP:0002582 Chronic atrophic gastritis Frequent (79-30%)
HP:0002608 Celiac disease Frequent (79-30%)
HP:0030057 Autoimmune antibody positivity Frequent (79-30%)
HP:0100651 Type I diabetes mellitus Frequent (79-30%)
HP:0001045 Vitiligo Occasional (29-5%)
HP:0001596 Alopecia Occasional (29-5%)
HP:0001882 Leukopenia Occasional (29-5%)
HP:0002613 Biliary cirrhosis Occasional (29-5%)
HP:0004313 Decreased antibody level in blood Occasional (29-5%)
HP:0010625 Anterior pituitary dysgenesis Occasional (29-5%)
HP:0000217 Xerostomia Very rare (4-1%)
HP:0000815 Hypergonadotropic hypogonadism Very rare (4-1%)
HP:0000863 Central diabetes insipidus Very rare (4-1%)
HP:0000938 Osteopenia Very rare (4-1%)
HP:0001094 Iridocyclitis Very rare (4-1%)
HP:0001097 Keratoconjunctivitis sicca Very rare (4-1%)
HP:0001370 Rheumatoid arthritis Very rare (4-1%)
HP:0001970 Tubulointerstitial nephritis Very rare (4-1%)
HP:0001973 Autoimmune thrombocytopenia Very rare (4-1%)
HP:0003613 Antiphospholipid antibody positivity Very rare (4-1%)
HP:0006530 Interstitial pulmonary abnormality Very rare (4-1%)
HP:0008066 Abnormal blistering of the skin Very rare (4-1%)
HP:0010451 Aplasia/Hypoplasia of the spleen Very rare (4-1%)
HP:0012115 Hepatitis Very rare (4-1%)
HP:0012220 Non-caseating epithelioid cell granulomatosis Very rare (4-1%)
HP:0100522 Thymoma Very rare (4-1%)
HP:0000872 Hashimoto thyroiditis Excluded (0%)
HP:0002728 Chronic mucocutaneous candidiasis Excluded (0%)
HP:0008207 Primary adrenal insufficiency Excluded (0%)
HP:0100647 Graves disease Excluded (0%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0012393 Allergy 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID