Ccdc115-cdg

Description

Congenital disorder of glycosylation type IIo (CDG2O) is an autosomal recessive metabolic disorder characterized by infantile onset of progressive liver failure, hypotonia, and delayed psychomotor development. Laboratory abnormalities include elevated liver enzymes, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect (summary by Jansen et al., 2016).For a general discussion of CDGs, see CDG1A (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Ccdc115-cdg

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ptosis
  • Hepatomegaly
  • Skeletal muscle atrophy
  • Downslanted palpebral fissures
  • Splenomegaly
  • Elevated serum creatine phosphokinase
  • Hepatosplenomegaly

And another 13 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

Ccdc115-cdg Is also known as cdgiio, carbohydrate deficient glycoprotein syndrome type iio, congenital disorder of glycosylation type 2o, cdg-iio, cdg syndrome type iio, cdg iio, cdg2o, congenital disorder of glycosylation type iio.

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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Ccdc115-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 %
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 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
100 %
CCDC115.

By Fulgent Genetics Fulgent Genetics (United States).

CCDC115
Specificity
100 %
Genes
100 %

We have -4 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET 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 SYMPHALANGISM, PROXIMAL, 1A; SYM1A ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO MAL DE MELEDA; MDM HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1

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