Slc39a8-cdg

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 ).

Clinical Features

Top most frequent phenotypes and symptoms related to Slc39a8-cdg

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Low-set ears
  • Flexion contracture

And another 25 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative 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.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Slc39a8-cdg Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC35A1, SLC35A2, SSR4, COG5, ALG9, NGLY1, TMEM199, ALG1, ATP6V0A2, COG4, COG6, COG7, COG8, ALG12, SLC35C1, DHDDS, SLC39A8, GMPPA, ALG3, ALG6 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
SLC39A8.

By Fulgent Genetics Fulgent Genetics (United States).

SLC39A8
Specificity
100 %
Genes
100 %
Metabolic Epilepsy Panel.

By Blueprint Genetics (Finland).

SLC25A1, SLC25A15, SLC2A1, BTD, SUOX, GPHN, L2HGDH, SLC39A8, SERAC1, ABAT, ETHE1, GNE, D2HGDH, DHFR, ADSL, DNM1L, DPYD, DPYS, PNPO, SLC46A1 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics (Finland).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SCO1, AIMP1, ST3GAL3, ST3GAL5, SLC25A1, SLC25A15, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, KDM5C, SMS, SNAP25, SIK1 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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