MCID: HYP713
MIFTS: 21

Hypermanganesemia with Dystonia 2

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

Aliases & Classifications for Hypermanganesemia with Dystonia 2

MalaCards integrated aliases for Hypermanganesemia with Dystonia 2:

Name: Hypermanganesemia with Dystonia 2 57 75 29 6
Hmndyt2 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
hypermanganesemia with dystonia 2:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypermanganesemia with Dystonia 2

OMIM : 57 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. An important gene associated with Hypermanganesemia with Dystonia 2 is SLC39A14 (Solute Carrier Family 39 Member 14). Affiliated tissues include brain, and related phenotypes are intellectual disability and spasticity

UniProtKB/Swiss-Prot : 75 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:

57
Neurologic Central Nervous System:
spasticity
tremor
hyperreflexia
developmental regression
dystonia
more
Head And Neck Mouth:
oromandibular dystonia
bulbar dysfunction

Muscle Soft Tissue:
axial hypotonia

Laboratory Abnormalities:
increased blood manganese

Skeletal Spine:
scoliosis

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:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 spasticity 32 HP:0001257
3 global developmental delay 32 occasional (7.5%) HP:0001263
4 cerebellar atrophy 32 occasional (7.5%) HP:0001272
5 gait disturbance 32 HP:0001288
6 parkinsonism 32 HP:0001300
7 tremor 32 HP:0001337
8 flexion contracture 32 HP:0001371
9 cerebral atrophy 32 occasional (7.5%) HP:0002059
10 bradykinesia 32 HP:0002067
11 developmental regression 32 HP:0002376
12 scoliosis 32 HP:0002650
13 babinski sign 32 HP:0003487
14 postnatal microcephaly 32 occasional (7.5%) HP:0005484
15 muscular hypotonia of the trunk 32 HP:0008936
16 ankle clonus 32 HP:0011448
17 oromandibular dystonia 32 HP:0012048

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 29 SLC39A14

Anatomical Context for Hypermanganesemia with Dystonia 2

MalaCards organs/tissues related to Hypermanganesemia with Dystonia 2:

41
Brain

Publications for Hypermanganesemia with Dystonia 2

Variations for Hypermanganesemia with Dystonia 2

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

75
# 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
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC39A14 NM_015359.5(SLC39A14): c.292T> G (p.Phe98Val) single nucleotide variant Pathogenic rs879253763 GRCh38 Chromosome 8, 22408331: 22408331
2 SLC39A14 NM_015359.5(SLC39A14): c.292T> G (p.Phe98Val) single nucleotide variant Pathogenic rs879253763 GRCh37 Chromosome 8, 22265844: 22265844
3 SLC39A14 NM_015359.5(SLC39A14): c.313G> T (p.Glu105Ter) single nucleotide variant Pathogenic rs879253764 GRCh37 Chromosome 8, 22265865: 22265865
4 SLC39A14 NM_015359.5(SLC39A14): c.313G> T (p.Glu105Ter) single nucleotide variant Pathogenic rs879253764 GRCh38 Chromosome 8, 22408352: 22408352
5 SLC39A14 NM_015359.5(SLC39A14): c.477_478delCA (p.Ser160Cysfs) deletion Pathogenic rs879253765 GRCh38 Chromosome 8, 22409965: 22409966
6 SLC39A14 NM_015359.5(SLC39A14): c.477_478delCA (p.Ser160Cysfs) deletion Pathogenic rs879253765 GRCh37 Chromosome 8, 22267478: 22267479
7 SLC39A14 NM_015359.4(SLC39A14): c.1147G> A (p.Gly383Arg) single nucleotide variant Pathogenic rs879253766 GRCh37 Chromosome 8, 22273793: 22273793
8 SLC39A14 NM_015359.4(SLC39A14): c.1147G> A (p.Gly383Arg) single nucleotide variant Pathogenic rs879253766 GRCh38 Chromosome 8, 22416280: 22416280
9 SLC39A14 NM_015359.5(SLC39A14): c.1407C> G (p.Asn469Lys) single nucleotide variant Pathogenic rs750281602 GRCh37 Chromosome 8, 22277139: 22277139
10 SLC39A14 NM_015359.5(SLC39A14): c.1407C> G (p.Asn469Lys) single nucleotide variant Pathogenic rs750281602 GRCh38 Chromosome 8, 22419626: 22419626
11 SLC39A14 NM_015359.5(SLC39A14): c.367C> T (p.Gln123Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 22265919: 22265919
12 SLC39A14 NM_015359.5(SLC39A14): c.367C> T (p.Gln123Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 22408406: 22408406
13 SLC39A14 NM_015359.5(SLC39A14): c.512G> A (p.Gly171Glu) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 22410000: 22410000
14 SLC39A14 NM_015359.5(SLC39A14): c.512G> A (p.Gly171Glu) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 22267513: 22267513
15 SLC39A14 NM_015359.5(SLC39A14): c.751-9C> G single nucleotide variant Pathogenic rs1039778197 GRCh37 Chromosome 8, 22273273: 22273273
16 SLC39A14 NM_015359.5(SLC39A14): c.751-9C> G single nucleotide variant Pathogenic rs1039778197 GRCh38 Chromosome 8, 22415760: 22415760

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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