Slc39a8-cdg

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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 ).

Genes related to Slc39a8-cdg

SLC39A8

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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.

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 Panel complete gene list SLC35A1, SLC35A2, SSR4, COG5, ALG9, NGLY1, TMEM199, ALG1, ATP6V0A2, COG4, COG6, COG7, COG8, ALG12, SLC35C1, DHDDS, SLC39A8, GMPPA, ALG3, ALG6, ALG2, ALG8, DOLK, GNE, MOGS, SRD5A3, DDOST, CCDC115, MAGT1, DPAGT1, DPM1, DPM2, DPM3, RFT1, TUSC3, STT3B, TMEM165, ALG13, ALG11, STT3A, COG1, COG2, MAN1B1, MGAT2, MPDU1, MPI, ATP6AP1, PGM1, PMM2, B4GALT1 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 Panel complete gene list SLC25A1, SLC25A15, SLC2A1, BTD, SUOX, GPHN, L2HGDH, SLC39A8, SERAC1, ABAT, ETHE1, GNE, D2HGDH, DHFR, ADSL, DNM1L, DPYD, DPYS, PNPO, SLC46A1, AGA, ETFA, ETFB, ETFDH, FH, ALDH5A1, GAMT, GCDH, GCH1, GLDC, AMT, HIBCH, ARG1, MOCS1, MTHFR, ALDH7A1, PGK1, POLG, PRODH, PTS, QDPR 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 Panel complete gene list SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SCO1, AIMP1, ST3GAL3, ST3GAL5, SLC25A1, SLC25A15, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, KDM5C, SMS, SNAP25, SIK1, SOX10, BTD, SPTAN1, CDKL5, STXBP1, SUOX, SYN1, SYNGAP1, SYNJ1, TAF1, TBCD, TBCE, TCF4, MED12, TREX1, TSC1, TSC2, UBE2A, UBE3A, WWOX, YY1, GFM1, SLC12A5, CNTNAP2, CACNA1A, CACNA1H, CACNB4, CERS1, PCDH19, ARHGEF9, GTPBP3, ZEB2, PIGT, CASK, CASR, GPHN, LRPPRC, NDUFAF5, PLCB1, SAMHD1, DNAJC5, SLC19A3, NFU1, EFHC1, RAB39B, SCARB2, MRPL44, PRICKLE1, MLC1, GJC2, ARX, SPATA5, PHF6, PRIMA1, DEPDC5, RNASEH2A, STX1B, KCNT1, MAGI2, VPS13A, CHD2, DOCK7, CHRNA2, CHRNA4, CHRNB2, SLC25A22, CLCN2, CLCN4, NUBPL, SUMF1, MBD5, APOPT1, L2HGDH, TPP1, CLN3, CLN5, ZFYVE26, CLN6, TUBB4A, CLN8, SLC39A8, NACC1, HACE1, SERAC1, FARS2, RMND1, FA2H, WDR26, NHLRC1, RNASET2, RNF216, BRAT1, KCTD7, COL4A1, ADAR, COX15, COX6B1, ABAT, SLC13A5, PIGO, UBA5, ETHE1, CPT2, GNE, RNASEH2C, CSF1R, NECAP1, FAM126A, CSTB, MARS2, CTSD, CTSF, DARS2, CUL4B, OFD1, RNASEH2B, TTC19, PIGV, CYP27A1, CTC1, FAR1, HEPACAM, UNC80, DARS, FOXRED1, DCX, DDC, IBA57, LYRM7, TBCK, D2HGDH, MFSD8, DHFR, NDUFAF6, WDR45, SZT2, IQSEC2, ADSL, TBC1D24, EARS2, ROGDI, TBL1XR1, MTFMT, DNM1, DNM1L, HECW2, POLR3A, DPYD, DPYS, ATP13A2, CC2D1A, PNPO, PYCR2, POLR3B, PRRT2, SLC46A1, ALG13, AFG3L2, ECHS1, ECM1, AGA, EEF1A2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, SNORD118, SDHAF1, EPM2A, ETFA, ETFB, ETFDH, FGF12, FH, FLNA, FOLR1, FOXG1, MTOR, ALDH3A2, GABRA1, ALDH5A1, GABRB2, GABRB3, GABRG2, GALC, GAMT, GCDH, GCH1, GFAP, GLB1, GLDC, GLRB, GNAO1, GNB1, GOSR2, AMACR, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRN, AMT, HSD17B10, HCN1, HTT, HIBCH, HNRNPU, HSPD1, AP4B1, AP4E1, AP4M1, AP4S1, ABCD1, KCNA1, KCNA2, KCNB1, KCNC1, KCNH1, KCNQ2, KCNQ3, LGI1, ARG1, LMNB1, MECP2, MEF2C, ARSA, MOCS1, ASAH1, MTHFR, ASNS, ASPA, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NOTCH3, NRXN1, ATP1A3, OPHN1, AIFM1, ALDH7A1, ATRX, KIF1A, PGK1, SERPINI1, PIGA, PIGN, PLP1, PNKP, POLG, PPT1, PRODH, HTRA1, PSAP, PTS, PURA, QDPR, RARS, RELN 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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