Mutation submission to AIREbase
for autoimmune polyglandular syndrome type 1 (APS 1, APECED)
Please, note that it is the responsibility of the submitters to ascertain that they have
the right to submit the data and they have the necessary permissions, including the
consent from the patient or family.
The submitted data will be made publicly available on the database website.
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Submitter

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References
PubMed ID



Mutation Numbering by reference sequence entry

Mutation
description
Heterozygous Homozygous
Allele 1   Allele 2
Type    Type 
Start number  Required   Start number  Required
Reference seq    Reference seq 
Variant seq    Variant seq 

Patient

Background Original code  Family history 
Sex  (XY=male, XX=female) Age at diagnosis  years
Country of origin  Ethnic group 
Diagnosis   Other specify:
Haplotype Allele 1:
D21S49  D21S1885  D21S1890 JA-I  D21S1259
 D21S1912 PKFL D21S171  D21S1903  
Allele 2:
D21S49 D21S1885 D21S1890 JA-I D21S1259
D21S1912 PKFL D21S171 D21S1903  
Clinical
phenotype
Clinical characteristics of patients
Endocrine disease components:
Hypoparathyroidism; Addison's disease; Gonadal failure;
Hypothyroidism; Diabetes mellitus; Gastritis;
Nonendocrine disease components:
Mucocutaneous candidiasis; Enamel hypoplasia; Pernicious anemia;
Vitiligo; Alopecia; Nail dystrophy; Malabsorption; Chronic active hepatitis;
Keratopathy; Other, specify
Presence of autoantibodies
Positive Negative Not tested Autoantigen
Aromatic L-amino acid decarboxylase (AADC)
17-hydroxylase (17OH)
21-hydroxylase (21OH)
Side-chain cleavage enzyme (SCC)
Tryptophan hydroxylase (TPH)
Tyrosine hydroxylase (TH)
Glutamic acid decarboxylase (GAD)
Relatives
Comments

Action


Submission instructions
AIREbase
Latest version: Wednesday, 19 February, 2014 10:31:7 by Gerard Schaafsma