ODCs

Click node...

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

2 OMIM references -
2 associated genes
18 signs/symptoms

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

Triple A syndrome

ISG15	(UniProt - OMIM)		AAAS	(UniProt - OMIM)
			GMPPA	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ISG15	(0.63)	AAAS

Citations in the biomedical literature:

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency		Triple A syndrome
	Synonym(s): - MSMD due to complete ISG15 deficiency		Synonym(s): - 2A syndrome - 3A syndrome - 4A syndrome - AAA syndrome - Achalasia - addisonianism - alacrima syndrome - Adrenal insufficiency - achalasia - alacrima - Allgrove syndrome - Double A syndrome - Quaternary A syndrome

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive

	External references: No OMIM references No MeSH references		External references: 2 OMIM references - No MeSH references

Triple A syndrome
	Very frequent - Autosomal recessive inheritance - Cortico-adrenal hypoplasia / insufficiency - Diffuse / generalised skin hyperpigmentation / melanoderma - Megaesophagus / cardiospasm / congenital dilation of the esophagus / achalasia - Seizures / epilepsy / absences / spasms / status epilepticus Frequent - Mild visual loss / impaired visual acuity - Palmoplantar hyperkeratosis / keratoderma - Short stature / dwarfism / nanism Occasional - Ataxia / incoordination / trouble of the equilibrium - Coloboma of iris - Hypereflexia - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Hypotonia - Microcephaly - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Psychic / psychomotor regression / dementia / intellectual decline - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Sensorineural deafness / hearing loss
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
(no data available)