SLC39A8 gene related symptoms and diseases
All the information presented here about the SLC39A8 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC39A8 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Joint hypermobility | Very Common - Between 80% and 100% cases |
| Apnea | Very Common - Between 80% and 100% cases |
| Craniosynostosis | Very Common - Between 80% and 100% cases |
| Abnormality of the liver | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SLC39A8 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypermetropia
- Poor speech
- Astigmatism
- Flat face
- Cerebral cortical atrophy
- Inability to walk
- Limb undergrowth
- Intellectual disability, profound
And 22 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLC39A8 gene
Here you will find a list of rare diseases related to the SLC39A8. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SLC39A8-CDG
Alternate names
SLC39A8-CDG Is also known as slc39a8 deficiency, cdg2n, congenital disorder of glycosylation type 2n, cdg iin, cdg syndrome type iin, carbohydrate deficient glycoprotein syndrome type iin, cdgiin, cdg-iin, congenital disorder of glycosylation type iin
Description
Congenital disorder of glycosylation type IIn (CDG2N) is an autosomal recessive severe multisystem developmental disorder characterized by delayed psychomotor development apparent from infancy, hypotonia, and variable additional features, such as short stature, seizures, visual impairment, and cerebellar atrophy. Serum transferrin analysis shows a CDG type II pattern (summary by Boycott et al., 2015 and Park et al., 2015).For a discussion of genetic heterogeneity of CDG type II, see CDG2A (OMIM ).
Most common symptoms of SLC39A8-CDG
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about SLC39A8-CDG
Search interest in SLC39A8
Potential gene panels for SLC39A8 gene
Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 TMEM199 ALG1 ATP6V0A2 COG4
More info about this panel United States.
SLC39A8 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC39A8 gene.
More info about this panel United States.
Metabolic Epilepsy Panel Panel
Finland.
By Blueprint Genetics Metabolic Epilepsy Panel that also includes the following genes: SLC25A1 SLC25A15 SLC2A1 BTD SUOX GPHN L2HGDH SLC39A8 SERAC1 ABAT
More info about this panel Finland.
Comprehensive Epilepsy Panel Panel
Finland.
By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1
More info about this panel Finland.
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