MCID: HYP713
MIFTS: 21

Hypermanganesemia with Dystonia 2

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Metabolic diseases, Liver diseases

Aliases & Classifications for Hypermanganesemia with Dystonia 2

MalaCards integrated aliases for Hypermanganesemia with Dystonia 2:

Name: Hypermanganesemia with Dystonia 2 53 71 28
Hmndyt2 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in infancy or first years of life
some patients may respond to early chelation therapy


HPO:

31
hypermanganesemia with dystonia 2:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypermanganesemia with Dystonia 2

OMIM : 53 Hypermanganesemia with dystonia-2 is an autosomal recessive neurodegenerative disorder characterized predominantly by loss of motor milestones in the first years of life. Affected individuals then develop rapidly progressive abnormal movements, including dystonia, spasticity, bulbar dysfunction, and variable features of parkinsonism, causing loss of ambulation. Cognition may be impaired, but is better preserved than motor function. The disorder results from abnormal accumulation of manganese (Mn), which is toxic to neurons. Chelation therapy, if started early, may provide clinical benefit (summary by Tuschl et al., 2016). For a discussion of genetic heterogeneity of HMNDYT, see HMNDYT1 (613280). (617013)

MalaCards based summary : Hypermanganesemia with Dystonia 2, also known as hmndyt2, is related to hypermanganesemia with dystonia, and has symptoms including tremor, oromandibular dystonia and bradykinesia. An important gene associated with Hypermanganesemia with Dystonia 2 is SLC39A14 (Solute Carrier Family 39 Member 14). Affiliated tissues include brain.

UniProtKB/Swiss-Prot : 71 Hypermanganesemia with dystonia 2: A metabolic autosomal recessive disorder characterized by increased blood manganese levels, neurodegeneration, and rapidly progressive parkinsonism and dystonia. Affected individuals present with loss of developmental milestones, progressive dystonia and bulbar dysfunction in infancy or early childhood. Towards the end of the first decade, they manifest severe generalized pharmacoresistant dystonia, spasticity, limb contractures and scoliosis, and loss of independent ambulation. Cognition may be impaired, but is better preserved than motor function.

Related Diseases for Hypermanganesemia with Dystonia 2

Diseases in the Hypermanganesemia with Dystonia family:

Hypermanganesemia with Dystonia 1 Hypermanganesemia with Dystonia 2

Diseases related to Hypermanganesemia with Dystonia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypermanganesemia with dystonia 11.1

Symptoms & Phenotypes for Hypermanganesemia with Dystonia 2

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
tremor
dystonia
bradykinesia
spasticity
hyperreflexia
more
Skeletal Spine:
scoliosis

Muscle Soft Tissue:
axial hypotonia

Laboratory Abnormalities:
increased blood manganese

Head And Neck Mouth:
oromandibular dystonia
bulbar dysfunction

Skeletal:
joint contractures

Head And Neck Head:
microcephaly, acquired (in some patients)


Clinical features from OMIM:

617013

Human phenotypes related to Hypermanganesemia with Dystonia 2:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 tremor 31 HP:0001337
2 oromandibular dystonia 31 HP:0012048
3 bradykinesia 31 HP:0002067
4 intellectual disability 31 HP:0001249
5 spasticity 31 HP:0001257
6 gait disturbance 31 HP:0001288
7 developmental regression 31 HP:0002376
8 scoliosis 31 HP:0002650
9 global developmental delay 31 occasional (7.5%) HP:0001263
10 flexion contracture 31 HP:0001371
11 babinski sign 31 HP:0003487
12 cerebellar atrophy 31 occasional (7.5%) HP:0001272
13 cerebral atrophy 31 occasional (7.5%) HP:0002059
14 parkinsonism 31 HP:0001300
15 postnatal microcephaly 31 occasional (7.5%) HP:0005484
16 muscular hypotonia of the trunk 31 HP:0008936
17 ankle clonus 31 HP:0011448

Drugs & Therapeutics for Hypermanganesemia with Dystonia 2

Search Clinical Trials , NIH Clinical Center for Hypermanganesemia with Dystonia 2

Genetic Tests for Hypermanganesemia with Dystonia 2

Genetic tests related to Hypermanganesemia with Dystonia 2:

# Genetic test Affiliating Genes
1 Hypermanganesemia with Dystonia 2 28 SLC39A14

Anatomical Context for Hypermanganesemia with Dystonia 2

MalaCards organs/tissues related to Hypermanganesemia with Dystonia 2:

38
Brain

Publications for Hypermanganesemia with Dystonia 2

Variations for Hypermanganesemia with Dystonia 2

UniProtKB/Swiss-Prot genetic disease variations for Hypermanganesemia with Dystonia 2:

71
# Symbol AA change Variation ID SNP ID
1 SLC39A14 p.Phe98Val VAR_077004 rs879253763
2 SLC39A14 p.Gly383Arg VAR_077005 rs879253766
3 SLC39A14 p.Asn469Lys VAR_077006 rs750281602

ClinVar genetic disease variations for Hypermanganesemia with Dystonia 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC39A14 NM_015359.5(SLC39A14): c.477_478delCA (p.Ser160Cysfs) deletion Pathogenic rs879253765 GRCh37 Chromosome 8, 22267478: 22267479
2 SLC39A14 NM_015359.4(SLC39A14): c.1147G> A (p.Gly383Arg) single nucleotide variant Pathogenic rs879253766 GRCh37 Chromosome 8, 22273793: 22273793
3 SLC39A14 NM_015359.5(SLC39A14): c.292T> G (p.Phe98Val) single nucleotide variant Pathogenic rs879253763 GRCh38 Chromosome 8, 22408331: 22408331
4 SLC39A14 NM_015359.5(SLC39A14): c.313G> T (p.Glu105Ter) single nucleotide variant Pathogenic rs879253764 GRCh37 Chromosome 8, 22265865: 22265865
5 SLC39A14 NM_015359.5(SLC39A14): c.1407C> G (p.Asn469Lys) single nucleotide variant Pathogenic rs750281602 GRCh37 Chromosome 8, 22277139: 22277139
6 SLC39A14 NM_015359.5(SLC39A14): c.367C> T (p.Gln123Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 22265919: 22265919
7 SLC39A14 NM_015359.5(SLC39A14): c.512G> A (p.Gly171Glu) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 22410000: 22410000
8 SLC39A14 NM_015359.5(SLC39A14): c.751-9C> G single nucleotide variant Pathogenic rs1039778197 GRCh37 Chromosome 8, 22273273: 22273273

Expression for Hypermanganesemia with Dystonia 2

Search GEO for disease gene expression data for Hypermanganesemia with Dystonia 2.

Pathways for Hypermanganesemia with Dystonia 2

GO Terms for Hypermanganesemia with Dystonia 2

Sources for Hypermanganesemia with Dystonia 2

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