ODCs

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Autoimmune polyendocrinopathy type 1

1 OMIM reference -
1 associated gene
15 signs/symptoms

PROTEIN INTERACTIONS: 1

Adult-onset autosomal dominant leukodystrophy

1 OMIM reference -
1 associated gene
21 signs/symptoms

Autoimmune polyendocrinopathy type 1

Adult-onset autosomal dominant leukodystrophy

AIRE

(UniProt - OMIM)

LMNB1

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	AIRE	(0.72)	LMNB1

Citations in the biomedical literature:

Autoimmune polyendocrinopathy type 1		Adult-onset autosomal dominant leukodystrophy
	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		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: childhood Average age of death: adult Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

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

Autoimmune polyendocrinopathy type 1		Adult-onset autosomal dominant leukodystrophy
	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		Very frequent - Ataxia / incoordination / trouble of the equilibrium - Autosomal dominant inheritance - Motor deficit / trouble - Total / partial trisomy / duplication Frequent - Abnormal gait - Constipation - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - Hypertonia / spasticity / rigidity / stiffness - Hypotension - Impotence / painful erection / priapism / erection troubles - Nystagmus - Sphincter dysfunction - Tremor Occasional - Corpus callosum / septum pellucidum total / partial agenesis - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Elocution disorders / dysarthria / dysphonia - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hearing loss / hypoacusia / deafness - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Intellectual deficit / mental / psychomotor retardation / learning disability - Visual loss / blindness / amblyopia