MCID: DSR032
MIFTS: 7

Disorder of Manganese Transport

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Disorder of Manganese Transport

MalaCards integrated aliases for Disorder of Manganese Transport:

Name: Disorder of Manganese Transport 58

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 33 E83.8
Orphanet 58 ORPHA309851

Summaries for Disorder of Manganese Transport

MalaCards based summary : Disorder of Manganese Transport is related to congenital disorder of glycosylation, type in and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Disorder of Manganese Transport is SLC39A8 (Solute Carrier Family 39 Member 8).

Related Diseases for Disorder of Manganese Transport

Diseases related to Disorder of Manganese Transport via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type in 10.0
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
3 congenital disorder of glycosylation, type iin 10.0
4 west syndrome 10.0
5 dwarfism 10.0

Graphical network of the top 20 diseases related to Disorder of Manganese Transport:



Diseases related to Disorder of Manganese Transport

Symptoms & Phenotypes for Disorder of Manganese Transport

Drugs & Therapeutics for Disorder of Manganese Transport

Search Clinical Trials , NIH Clinical Center for Disorder of Manganese Transport

Genetic Tests for Disorder of Manganese Transport

Anatomical Context for Disorder of Manganese Transport

Publications for Disorder of Manganese Transport

Articles related to Disorder of Manganese Transport:

# Title Authors PMID Year
1
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation. 61
26637979 2015

Variations for Disorder of Manganese Transport

Expression for Disorder of Manganese Transport

Search GEO for disease gene expression data for Disorder of Manganese Transport.

Pathways for Disorder of Manganese Transport

GO Terms for Disorder of Manganese Transport

Sources for Disorder of Manganese Transport

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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