SLC39A14 gene related symptoms and diseases

All the information presented here about the SLC39A14 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SLC39A14 gene

Symptoms // Phenotype % Cases
Hearing impairment Uncommon - Between 30% and 50% cases
Developmental regression Uncommon - Between 30% and 50% cases
Tremor Uncommon - Between 30% and 50% cases
Gait disturbance Uncommon - Between 30% and 50% cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with SLC39A14 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Dystonia
  • Cerebral atrophy
  • Absent speech
  • Babinski sign
  • Muscular hypotonia of the trunk
  • Abnormality of the liver
  • Cognitive impairment
  • Parkinsonism

And 31 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to SLC39A14 gene

Here you will find a list of rare diseases related to the SLC39A14. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HYPEROSTOSIS CRANIALIS INTERNA


Description

Hyperostosis cranialis interna is a bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII (Waterval et al., 2010).

Most common symptoms of HYPEROSTOSIS CRANIALIS INTERNA

  • Hearing impairment
  • Sensorineural hearing impairment
  • Optic atrophy
  • Reduced visual acuity
  • Proptosis


More info about HYPEROSTOSIS CRANIALIS INTERNA

SOURCES: OMIM ORPHANET MESH

DYSTONIA-PARKINSONISM-HYPERMANGANESEMIA SYNDROME


Description

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 (OMIM ).

Most common symptoms of DYSTONIA-PARKINSONISM-HYPERMANGANESEMIA SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Spasticity


More info about DYSTONIA-PARKINSONISM-HYPERMANGANESEMIA SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for SLC39A14 gene

Dystonia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8

More info about this panel

Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection that also includes the following genes: SLC20A2 SLC6A3 SNCA SNCB SPG11 SPR SYNJ1 TAF1 TARDBP TWNK

More info about this panel

Dystonia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Dystonia that also includes the following genes: SGCE SLC25A1 SLC2A1 SLC6A3 SPR TAF1 TBCE TH TIMM8A ACTB

More info about this panel

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing Panel

United States.

By NBIA Testing Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing that also includes the following genes: SCP2 SQSTM1 KMT2B PANK2 TRIM32 VPS13A MECR SLC39A14 FA2H CP

More info about this panel

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication Panel

United States.

By NBIA Testing Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication that also includes the following genes: SCP2 SQSTM1 KMT2B PANK2 TRIM32 VPS13A MECR SLC39A14 FA2H CP

More info about this panel

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication Panel

United States.

By NBIA Testing Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication that also includes the following genes: SQSTM1 PANK2 TRIM32 VPS13A SLC39A14 FA2H CP C19orf12 DCAF17 WDR45

More info about this panel

SLC39A14 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SLC39A14 gene.

More info about this panel

SLC39A14-Related Early-Onset Dystonia-Parkinsonism: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the SLC39A14 gene.

More info about this panel


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