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Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Autoimmune polyendocrinopathy type 1

1 OMIM reference -
1 associated gene
15 signs/symptoms

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Autoimmune polyendocrinopathy type 1

CREBBP

(UniProt - OMIM)

AIRE

(UniProt - OMIM)


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		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)