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Summary
Disease
HYPERMANGANESEMIA WITH DYSTONIA 2 (HMNDYT2)
Synonym
MANGANESE TRANSPORTER DFECT HMNDYT2
OMIM
617013
OMIM = Online Medalian Inheritance of Men
Gene locus
8p21.3
Summary
rare
autosomal recessive
mutation in the SLC39A14 gene
(zinc transporter)
symptoms
cerebellar atrophy or hypoplasia
cerebral atrophy
contractures, joints
developmental delay
dystonia
hyperreflexia
hypertonia, spasticity
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
learning disability
microcephaly (<2 SD for age)
onset, infancy
Parkinsonism
scoliosis
tremor or twitching
laboratory finding
Metabolite
min
max
Norm. min
Norm. max
unit
specimen
agegroup
MRI, brain, abnormalities -
Manganese
increased
serum
Literature
Author
Co-Author
Title
society
book
volume
number
pages
Year
Shephard EA,
Treacy EP, Phillips IR
Clinical utility gene card for: Trimethylaminuria - update 2014
Eur J Hum Genet
23
9
2015
Zhao X,
Zeisel SH, Zhang S
Rapid LC-MRM-MS assay for simultaneous quantification of choline, betaine, trimethylamine, trimethylamine N-oxide, and creatinine in human plasma and urine
Electrophoresis
0
0
2015