MCID: HYP713
MIFTS: 17

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 54 71 29
Hmndyt2 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 54 617013
MedGen 40 CN237172
MeSH 42 D008659

Summaries for Hypermanganesemia with Dystonia 2

OMIM : 54
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, is also known as hmndyt2. 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 1 family:

Hypermanganesemia with Dystonia 2

Symptoms & Phenotypes for Hypermanganesemia with Dystonia 2

Symptoms via clinical synopsis from OMIM:

54

Skeletal:
joint contractures

Neurologic- Central Nervous System:
dystonia
tremor
hyperreflexia
spasticity
extensor plantar responses
more
Head And Neck- Mouth:
oromandibular dystonia
bulbar dysfunction

Laboratory- Abnormalities:
increased blood manganese

Skeletal- Spine:
scoliosis

Muscle Soft Tissue:
axial hypotonia

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


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

MalaCards organs/tissues related to Hypermanganesemia with Dystonia 2:

39
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
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC39A14 NM_001351656.1(SLC39A14): c.292T> G (p.Phe98Val) single nucleotide variant Pathogenic rs879253763 GRCh38 Chromosome 8, 22408331: 22408331
2 SLC39A14 NM_001351656.1(SLC39A14): c.313G> T (p.Glu105Ter) single nucleotide variant Pathogenic rs879253764 GRCh37 Chromosome 8, 22265865: 22265865
3 SLC39A14 NM_015359.5(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_001351656.1(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

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
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70 UMLS via Orphanet
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