Achalasia-addisonianism-alacrima syndrome

Preferred Label : Achalasia-addisonianism-alacrima syndrome;

Symbol : AAAS;

CISMeF acronym : AAAS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Triple-a syndrome; Alacrima-achalasia-adrenal insufficiency neurologic disorder; Glucocorticoid deficiency and achalasia; Allgrove syndrome; Addisonian-achalasia syndrome; Hypoadrenalism with achalasia; Acth-resistant adrenal insufficiency, achalasia and alacrima; ALACRIMA-ACHALASIA-ADDISONIANISM;

Included titles and symbols : Achalasia-alacrima syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the aladin gene (AAAS, 605378.0001);

Laboratory abnormalities : Schirmer test shows alacrima;

Prefixed ID : #231550;

Détails

Origin ID

231550;

UMLS CUI

C0271742;

Automatic exact mappings (from CISMeF team)
- AAAS Gene [NCIt concept]
- APP wt Allele [NCIt concept]
- Achalasia-alacrimia syndrome [ORDO Disease]
- Aladin [NCIt concept]
- American Association for the Advancement of Science [NCIt concept]
- Amyloid-Beta Precursor Protein [NCIt concept]
- Triple A Syndrome [NCIt concept]
- aladin WD repeat nucleoporin [HGNC gene]
- aladin WD repeat nucleoporin [ORDO Gene]
Currated CISMeF NLP mapping
- AAA syndrome [Disease (Nov.)]
- Achalasia Addisonianism Alacrimia syndrome [MeSH concept]
- Allgrove syndrome [PASCAL descriptor]
- Allgrove syndrome [MedDRA LLT]
- Glucocorticoid deficiency with achalasia (disorder) [SNOMED CT concept]
- Triple A Syndrome [NCIt concept]
- Triple A syndrome [ICD-11 More detail]
- Triple A syndrome [ORDO Disease]
- Triple A syndrome [MedDRA Preferred Term]
- achalasia addisonianism alacrimia syndrome [MeSH Supplementary Concept]
- glucocorticoid deficiency with achalasia [SNOMED Notion]
- triple-A syndrome [DO Concept]
DO Cross reference
- triple-A syndrome [DO Concept]
Genes related to phenotype
- Aladin wd repeat nucleoporin [OMIM gene]
HPO term(s)
- Abnormal autonomic nervous system physiology [HPO term]
- Abnormality of visual evoked potentials [HPO term]
- Achalasia [HPO term]
- Adrenocorticotropin receptor defect [HPO term]
- Alacrima [HPO term]
- Anisocoria [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Childhood onset [HPO term]
- Decreased circulating aldosterone level [HPO term]
- Decreased circulating cortisol level [HPO term]
- Distal muscle weakness and atrophy [HPO term]
- Dysarthria [HPO term]
- Global developmental delay [HPO term]
- Glucocorticoid insufficiency [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Hyperreflexia [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Mineralocorticoid insufficiency [HPO term]
- Motor axonal neuropathy [HPO term]
- Muscle weakness [HPO term]
- Optic atrophy [HPO term]
- Orthostatic hypotension [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
- Progressive [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Achalasia-alacrimia syndrome [ORDO Disease]
- Triple A syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- AAA syndrome [Disease (Nov.)]
- Achalasia Addisonianism Alacrimia syndrome [MeSH concept]
- Allgrove syndrome [MedDRA LLT]
- Glucocorticoid deficiency with achalasia (disorder) [SNOMED CT concept]
- Triple A Syndrome [NCIt concept]
- Triple A Syndrome [NCIt concept]
- Triple A syndrome [MedDRA Preferred Term]
- Triple A syndrome [ORDO Disease]
- achalasia addisonianism alacrimia syndrome [MeSH Supplementary Concept]
- glucocorticoid deficiency with achalasia [SNOMED Notion]
- triple-A syndrome [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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