Cog4-cdg

Description

COG4-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.

Clinical Features

Top most frequent phenotypes and symptoms related to Cog4-cdg

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia
  • Growth delay
  • Nystagmus
  • Failure to thrive
  • Abnormal facial shape
  • Feeding difficulties

And another 41 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

Cog4-cdg Is also known as carbohydrate deficient glycoprotein syndrome type iij, cdg-iij, cdg syndrome type iij, cdg2j, congenital disorder of glycosylation type iij, congenital disorder of glycosylation type 2j, cdgiij, cdg iij.

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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Cog4-cdg Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Disorders of Glycosylation.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SLC35A1, COG5, ALG9, ALG1, ATP6V0A2, COG4, COG6, COG7, COG8, ALG12, SLC35C1, ALG3, ALG6, ALG2, ALG8, DOLK, GNE, MOGS, SRD5A3, DDOST , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
Glycosylation disorder type IIj (sequence analysis of COG4 gene).

By CGC Genetics (Portugal).

COG4
Specificity
100 %
Genes
100 %
Congenital disorders of glycosylation (NGS panel for 39 genes).

By CGC Genetics (Portugal).

SLC35A1, SLC35A2, SSR4, COG5, ALG9, NGLY1, ALG1, COG4, COG6, COG7, COG8, ALG12, SLC35C1, ALG3, ALG6, ALG2, ALG8, DOLK, MOGS, SRD5A3 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Congenital Disorders of Glycosylation, Type IIj via COG4 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

COG4
Specificity
100 %
Genes
100 %
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 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
Congenital Disorders of Glycosylation (CDG).

By MGZ Medical Genetics Center (Germany).

SLC35A1, SLC35A2, SSR4, COG5, ALG9, ALG1, COG4, COG6, COG7, COG8, ALG12, SLC35C1, DHDDS, GMPPA, ALG3, ALG6, ALG8, DOLK, MOGS, SRD5A3 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 HEMIHYPERPLASIA, ISOLATED; IH LETHAL CONGENITAL CONTRACTURE SYNDROME 3; LCCS3 CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCY ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD ISOLATED PLAGIOCEPHALY

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