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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
15 signs/symptoms
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Autoimmune polyendocrinopathy type 1

CREBBP AIRE


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CREBBP
(0.83)
AIRE



Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
CREBBP
Autoimmune polyendocrinopathy type 1
AIRE



Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Autoimmune polyendocrinopathy type 1

Synonym(s):
(no synonyms)

Synonym(s):
- APECED syndrome
- APS1
- Autoimmune hypoparathyroidism - chronic candidiasis - Addison's disease
- Autoimmune hypoparathyroidism - chronic candidosis - Addison's disease
- Autoimmune polyendocrine syndrome type 1
- Autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy syndrome
- Autoimmune polyendocrinopathy - candidosis - ectodermal dystrophy syndrome
- Autoimmune polyglandular syndrome type 1
- HAM syndrome
- Hypoparathyroidism - Addison's disease - mucocutaneous candidiasis
- Hypoparathyroidism - Addison's disease - mucocutaneous candidosis
- MEDAC syndrome
- Multiple endocrine deficiency - Addison's disease - candidiasis
- Multiple endocrine deficiency - Addison's disease - candidosis

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare immune disease
- Rare infertility

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538275

Autoimmune polyendocrinopathy type 1

Very frequent
- Autoimmunity / autoimmune reaction / autoantibodies
- Autosomal recessive inheritance
- Cerebral vascular anomalies
- Corneal clouding / opacity / vascularisation
- Cortico-adrenal hyperplasia / hypersecretion
- Cortico-adrenal hypoplasia / insufficiency
- Dysplastic / thick / grooved fingernails
- Hypoparathyroidy
- Mild visual loss / impaired visual acuity
- Phosphocalcic metabolism anomalies
- Photophobia

Frequent
- Cataract / lens opacification

Occasional
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Intracranial / cerebral calcifications
- Irregular / patchy skin hypopigmentation


Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

(no data available)