HYPERMANGANESEMIA WITH DYSTONIA 2 (HMNDYT2)

Question 1

What is  HYPERMANGANESEMIA WITH DYSTONIA 2 (HMNDYT2)?

Accepted Answer

rare
autosomal recessive
mutation in the SLC39A14 gene (zinc transporter)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hypermagnesiämie-Syndrom mit Gyratatrophie; HMNDYT1

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 617013

Question 4

Which enzymes are involved?

Accepted Answer

Zinc transporter ZIP14

Disease	HYPERMANGANESEMIA WITH DYSTONIA 2 (HMNDYT2)
Synonym	MANGANESE TRANSPORTER DFECT; HMNDYT2
OMIM	617013 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	Zinc transporter ZIP14
Gene locus	8p21.3
ICD
Summary	rare autosomal recessive mutation in the SLC39A14 gene (zinc transporter)
Laboratory findings	Manganese inc (serum)
Symptoms	anemia cerebellar atrophy or hypoplasia cerebral atrophy contractures, joints developmental delay dystonia gait disturbance hyperreflexia hypertonia, spasticity hypotonia intellectual disability/intellectual developmental disorder learning disability microcephaly (<2 SD for age) MRI, brain, abnormalities [-] onset, infancy Parkinsonism scoliosis tremor or twitching