Alacrima, achalasia, and impaired intellectual development syndrome

Preferred Label : Alacrima, achalasia, and impaired intellectual development syndrome;

Symbol : AAMR;

CISMeF acronym : AAMR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Alacrima, achalasia, and mental retardation syndrome;

Description : Alacrima, achalasia, and mental retardation syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome (231550), but patients with AAMR do not have adrenal insufficiency (summary by Koehler et al., 2013). See also 300858 for a phenotypically similar disorder that shows X-linked inheritance.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the GDP-mannose pyrophosphorylase A gene (GMPPA, 615495.0001);

Laboratory abnormalities : Normal serum transferrin profiles;

Prefixed ID : #615510;

Details

Origin ID

615510;

UMLS CUI

C4706563;

Currated CISMeF NLP mapping
- Alacrima, Achalasia, and Impaired Intellectual Development Syndrome [NCIt concept]
- Intellectual disability, alacrima, achalasia syndrome (disorder) [SNOMED CT concept]
- Intellectual disability-alacrima-achalasia syndrome [ORDO Disease]
- alacrima, achalasia, and impaired intellectual development syndrome [DO Concept]
Genes related to phenotype
- Gdp-mannose pyrophosphorylase a [OMIM gene]
HPO term(s)
- Achalasia [HPO term]
- Adrenal insufficiency [HPO term]
- Alacrima [HPO term]
- Anisocoria [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Delayed speech and language development [HPO term]
- Downturned corners of mouth [HPO term]
- Dysphagia [HPO term]
- Esophageal stenosis [HPO term]
- Exodeviation [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- High anterior hairline [HPO term]
- Horizontal nystagmus [HPO term]
- Hyperkeratosis [HPO term]
- Hyperreflexia [HPO term]
- Hypohidrosis [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Nasal speech [HPO term]
- Neonatal onset [HPO term]
- Neonatal respiratory distress [HPO term]
- Nystagmus [HPO term]
- Orthostatic hypotension [HPO term]
- Prominent nose [HPO term]
- Ptosis [HPO term]
- Short philtrum [HPO term]
- Somatic sensory dysfunction [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Triangular face [HPO term]
ORDO concept(s)
- Triple A syndrome [ORDO Disease]
See also inter- (CISMeF)
- Triple A syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alacrima, Achalasia, and Impaired Intellectual Development Syndrome [NCIt concept]
- Intellectual disability, alacrima, achalasia syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients