B4galt1-cdg

Description

B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.

Clinical Features

Top most frequent phenotypes and symptoms related to B4galt1-cdg

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Macrocephaly
  • Hydrocephalus
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Stroke
  • Dandy-Walker malformation

And another 3 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

B4galt1-cdg Is also known as carbohydrate deficient glycoprotein syndrome type iid, beta-1,4-galactosyltransferase deficiency, congenital disorder of glycosylation type 2d, cdg2d, cdg iid, congenital disorder of glycosylation type iid, cdgiid, cdg-iid, cdg syndrome type iid.

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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B4galt1-cdg Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Congenital Disorders of Glycosylation Panel.

By Baylor Miraca Genetics Laboratories (United States).

SLC35A1, ALG9, ALG1, ATP6V0A2, COG7, COG8, ALG12, SLC35C1, ALG3, ALG6, ALG2, ALG8, DOLK, GNE, MOGS, SRD5A3, DPAGT1, DPM1, DPM3, RFT1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
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 %
Glycosylation disorder type IId (sequence analysis of B4GALT1 gene).

By CGC Genetics (Portugal).

B4GALT1
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 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 %

We have 19 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Genetic Syndrome Finder

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