HYPERMANGANESEMIA WITH DYSTONIA 1 (HMNDYT1)

Question 1

What is  HYPERMANGANESEMIA WITH DYSTONIA 1 (HMNDYT1)?

Accepted Answer

rare
autosomal recessive
mutations in the SLC30A10 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Zirrhose-Dystonie-Polyzythämie-Hypermagnesiämie-Syndrom; HMNDYT1

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 613280

Question 4

Which enzymes are involved?

Accepted Answer

Zinc transporter 10

Disease	HYPERMANGANESEMIA WITH DYSTONIA 1 (HMNDYT1)
Synonym	MANGANESE TRANSPORTER DFECT; HMNDYT1
OMIM	613280 OMIM = Online Mendelian Inheritance of Men
Orphanet	309854
Protein (UniProt)	Zinc transporter 10
Gene locus	1q41
ICD
Summary	rare autosomal recessive mutations in the SLC30A10 gene
Laboratory findings	Manganese inc (serum)
Symptoms	cirrhosis or fibrosis of liver dysarthria dystonia hepatomegaly (large liver) macrocephaly (large calvaria, >2 SD for age) mental retardation MRI, brain, abnormalities [-] onset, adulthood onset, childhood polycythemia tremor or twitching