HMNDYT2
MCID: HYP713
MIFTS: 9

Hypermanganesemia with Dystonia 2 (HMNDYT2) malady

Categories: Genetic diseases

Aliases & Classifications for Hypermanganesemia with Dystonia 2

Aliases & Descriptions for Hypermanganesemia with Dystonia 2:

Name: Hypermanganesemia with Dystonia 2 54 66 29
Hmndyt2 66

Classifications:



External Ids:

MedGen 40 CN237172
MeSH 42 D008659

Summaries for Hypermanganesemia with Dystonia 2

UniProtKB/Swiss-Prot : 66 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.

MalaCards based summary : Hypermanganesemia with Dystonia 2, is also known as hmndyt2. An important gene associated with Hypermanganesemia with Dystonia 2 is SLC39A14 (Solute Carrier Family 39 Member 14).

Related Diseases for Hypermanganesemia with Dystonia 2

Symptoms & Phenotypes for Hypermanganesemia with Dystonia 2

Clinical features from OMIM:

617013

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:

id Genetic test Affiliating Genes
1 Hypermanganesemia with Dystonia 2 29

Anatomical Context for Hypermanganesemia with Dystonia 2

Publications for Hypermanganesemia with Dystonia 2

Variations for Hypermanganesemia with Dystonia 2

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

66
id Symbol AA change Variation ID SNP ID
1 SLC39A14 p.Phe98Val VAR_077004
2 SLC39A14 p.Gly383Arg VAR_077005
3 SLC39A14 p.Asn469Lys VAR_077006

ClinVar genetic disease variations for Hypermanganesemia with Dystonia 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC39A14 NM_015359.4(SLC39A14): c.292T> G (p.Phe98Val) single nucleotide variant Pathogenic rs879253763 GRCh38 Chromosome 8, 22408331: 22408331
2 SLC39A14 NM_015359.4(SLC39A14): c.313G> T (p.Glu105Ter) single nucleotide variant Pathogenic rs879253764 GRCh37 Chromosome 8, 22265865: 22265865
3 SLC39A14 NM_015359.4(SLC39A14): c.477_478delCA (p.Ser160Cysfs) deletion Pathogenic rs879253765 GRCh38 Chromosome 8, 22409965: 22409966
4 SLC39A14 NM_015359.4(SLC39A14): c.1147G> A (p.Gly383Arg) single nucleotide variant Pathogenic rs879253766 GRCh37 Chromosome 8, 22273793: 22273793
5 SLC39A14 NM_015359.4(SLC39A14): c.1407C> G (p.Asn469Lys) single nucleotide variant Pathogenic rs750281602 GRCh37 Chromosome 8, 22277139: 22277139

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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11 DGIdb
16 ExPASy
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70 UMLS via Orphanet
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