Affected children present with delay or loss of motor developmental milestones (e.g., delayed walking, gait disturbance). [ncbi.nlm.nih.gov]

Purpose of Review This article provides an overview of the pathogenesis, clinical presentation and treatment of inherited manganese transporter defects. [x-mol.com]

Muscle(2.1) Genes that share expression patterns with SLC39A8: view Primer products for research HP214400 MP220415 HK206833 No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC39A8 Gene This gene was present [genecards.org]

Importantly, as highlighted above, we found that many of differentiation and depolarization associated modules were present in independent in vivo and in vitro expression data sets (Table 1), providing independent validation for these in vitro iPSC-derived [genomemedicine.biomedcentral.com]

• Movement Disorder

  Summary Inherited manganese transporter defects are an important differential diagnosis of paediatric movement disorders. Manganese blood levels and MRI brain are diagnostic and allow early diagnosis to avoid treatment delay. 中文翻译： 锰代谢的遗传障碍。 [x-mol.com]

  Option 2 When the phenotype is indistinguishable from other movement disorders, molecular genetic testing approaches can include a combination of genomic testing (comprehensive genomic sequencing; recommended) or gene-targeted testing (multigene panel [ncbi.nlm.nih.gov]

• Developmental Delay

  Note=Rare variants in SLC39A8 may be a cause of Leigh-like mitochondrial syndrome characterized by profound developmental delay, dystonia, seizures and failure to thrive. {ECO:0000269 PubMed:27995398}. [genecards.org]

  delay) [65], and VAV3 (schizophrenia) [66] (Figure 2B). [genomemedicine.biomedcentral.com]

• Candidiasis

  January 01, 2011 Prediction of the clinical outcome in invasive candidiasis patients based on molecular fingerprints of five anti-Candida antibodies in serum. January 01, 2011 The Plk1-dependent phosphoproteome of the early mitotic spindle. [medscape.com]

• Failure to Thrive

  Note=Rare variants in SLC39A8 may be a cause of Leigh-like mitochondrial syndrome characterized by profound developmental delay, dystonia, seizures and failure to thrive. {ECO:0000269 PubMed:27995398}. [genecards.org]

• Dystonia

  DYT1 early-onset isolated dystonia TOR1A AD Early-onset generalized dystonia No features consistent w/Mn deposition on brain MRI; absent hypermanganesemia KMT2B-related early-onset dystonia KMT2B AD MECR-related childhood-onset dystonia and optic atrophy [ncbi.nlm.nih.gov]

  Bi-allelic mutations in any of these transporter proteins disrupt the manganese equilibrium and lead to neurological disease: Hypermanganesaemia with dystonia 1 (SLC30A10 deficiency) and hypermanganesaemia with dystonia 2 (SLC39A14 deficiency) are characterised [x-mol.com]

  Excessive accumulation of manganese in these patients results in rapidly progressive childhood-onset parkinsonism-dystonia with distinctive brain magnetic resonance imaging appearances and neurodegenerative features on post-mortem examination. [kclpure.kcl.ac.uk]

  Note=Rare variants in SLC39A8 may be a cause of Leigh-like mitochondrial syndrome characterized by profound developmental delay, dystonia, seizures and failure to thrive. {ECO:0000269 PubMed:27995398}. [genecards.org]

• Toxoplasma Gondii

  January 01, 2011 Comprehensive proteomic analysis of membrane proteins in Toxoplasma gondii. January 01, 2011 Uncovering the human methyltransferasome. [medscape.com]

  gondii) Trichoplax (Trichoplax adhaerens) Wheat (Triticum aestivum) Evolution for SLC39A8 Gene SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type 1013495 Uncertain Significance: not provided 102,267,955(-) A/G NM_001135146.2 [genecards.org]

• Candida

  January 01, 2011 Prediction of the clinical outcome in invasive candidiasis patients based on molecular fingerprints of five anti-Candida antibodies in serum. January 01, 2011 The Plk1-dependent phosphoproteome of the early mitotic spindle. [medscape.com]

• Colitis

  Gastroenterology 150 (4), S48, 201622016Su1179 Reproducibility of Serologic Antibody Activity At Diagnosis and After Treatment in Ulcerative Colitis (UC) and Crohn's Disease (CD). [scholar.google.com]

[…] of Manifestations Symptomatic treatment. [ncbi.nlm.nih.gov]

Purpose of Review This article provides an overview of the pathogenesis, clinical presentation and treatment of inherited manganese transporter defects. [x-mol.com]

Gastroenterology 150 (4), S48, 201622016Su1179 Reproducibility of Serologic Antibody Activity At Diagnosis and After Treatment in Ulcerative Colitis (UC) and Crohn's Disease (CD). [scholar.google.com]

Down-regulated following phorbol ester treatment (PubMed:12504855). Up-regulated by zinc and T-cell activation (PubMed:19401385). [genecards.org]

[…] brown, tan, green yellow, and midnight blue modules) demonstrated significant overlap with previously defined depolarization-associated gene sets defined in mouse cortical neurons [46] and human neuroblastoma cells (IMR-32) [45] before and after KCl treatment [genomemedicine.biomedcentral.com]

Journal of Crohn's and Colitis 4 (5), 561-566, 2010282010Widespread but not localized neoplasia in inflammatory bowel disease worsens the prognosis of colorectal cancer S Brackmann, G Aamodt, SN Andersen, B Roald, F Langmark, ... [scholar.google.com]

Given the increasing appreciation for rare monogenic contributions to ASD [11]-[13], TS provides a powerful avenue for understanding both basic neurobiological processes and ASD pathophysiology. [genomemedicine.biomedcentral.com]

Prevention of Primary Manifestations Chelation therapy with disodium calcium edetate may prevent primary disease manifestations in affected sibs who are asymptomatic (see Treatment of Manifestations). [ncbi.nlm.nih.gov]