ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (CDG)

Question 1

What is  ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (CDG)?

Accepted Answer

rare
autosomal recessive
mutation in the GMPPA gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Triple-A-Syndrom (Achalasie-, Addison-, Alakrimie-Syndrom)

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 615510

Question 4

Which enzymes are involved?

Accepted Answer

Mannose-1-phosphate guanyltransferase alpha

Disease	ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (CDG)
Synonym	GMPPA-CDG
OMIM	615510 OMIM = Online Mendelian Inheritance of Men
Orphanet	869
Protein (UniProt)	Mannose-1-phosphate guanyltransferase alpha
Gene locus	2q35
ICD	E27.4
Summary	rare autosomal recessive mutation in the GMPPA gene
Laboratory findings	IEF of serum transferrin (serum)
Symptoms	achalasia alacrima developmental delay dysmorphism dysphagia feeding difficulties, poor feeding gait disturbance growth retardation, poor growth hearing defect, deafness hyperkeratosis hypotonia intellectual disability/intellectual developmental disorder mental retardation nystagmus onset, neonatal psychomotor retardation sensory disturbances strabismus