Glucose/galactose Malabsorption; Ggm

Description

Glucose/galactose malabsorption (GGM) is a rare autosomal recessive disorder caused by a defect in glucose and galactose transport across the intestinal brush border. Patients with GGM present with neonatal onset of severe life-threatening watery diarrhea and dehydration. If diagnosed and treated properly, patients can fully recover and show normal growth and development (summary by Xin and Wang, 2011).

Clinical Features

Top most frequent phenotypes and symptoms related to Glucose/galactose Malabsorption; Ggm

  • Failure to thrive
  • Diarrhea
  • Acidosis
  • Malabsorption
  • Metabolic acidosis
  • Abdominal distention
  • Chronic diarrhea
  • Dehydration
  • Glycosuria
  • Hypernatremia
And another 3 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Glucose/galactose Malabsorption; Ggm Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SLC5A1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SLC5A1
Specificity
100 %
Genes
100 %
Congenital Diarrhea Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Congenital Diarrhea Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Congenital Diarrhea Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Glucose/galactose malabsorption (sequence analysis of SLC5A1 gene).

By CGC Genetics in Portugal.

SLC5A1
Specificity
100 %
Genes
100 %
Congenital glucose-galactose malabsorption.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

SLC5A1
Specificity
100 %
Genes
100 %
Glucose-Galactose Malabsorption.

By Exeter Molecular Genetics Laboratory in United Kingdom.

SLC5A1
Specificity
100 %
Genes
100 %
SLC5A1.

By Division Human Genetics Medical University Innsbruck in Austria.

SLC5A1
Specificity
100 %
Genes
100 %
Invitae Rare Carbohydrate Disorders Panel.

By Invitae in United States.

FBP1, SLC5A1
Specificity
50 %
Genes
100 %
Congenital glucose-galactose malabsorption: sequence analysis of SLC5A1 Gene.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SLC5A1
Specificity
100 %
Genes
100 %
SLC5A1.

By Fulgent Genetics Fulgent Genetics in United States.

SLC5A1
Specificity
100 %
Genes
100 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
100 %
Congenital Diarrhea Panel.

By Blueprint Genetics in Finland.

EPCAM, CYP27A1, LIPA, MVK, NCF2, NEUROG3, XIAP, IL10RA, SI, TTC37, TTC7A, SKIV2L, IL10RB, IL10, SAR1B, LCT, SLC5A1, SLC26A3, MYO5B, STX3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Congenital Mono- and Disaccharide Disorders Panel.

By Blueprint Genetics in Finland.

ALDOB, GALT, GALE, GALK1, SLC2A1, SLC2A2, SI, LCT, SLC5A1
Specificity
12 %
Genes
100 %
Glucose-galactose malabsorption.

By Bioarray in Spain.

SLC5A1
Specificity
100 %
Genes
100 %
SLC5A1 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

SLC5A1
Specificity
100 %
Genes
100 %
Glucose-Galactose Malabsorption (SLC5A1) Targeted Testing.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

SLC5A1
Specificity
100 %
Genes
100 %
GLUCOSE-GALACTOSE MALABSORPTION.

By Laboratorio de Genetica Clinica SL in Spain.

SLC5A1
Specificity
100 %
Genes
100 %
Glucose-Galactose Malabsorption , Sequencing SLC5A1 Gene.

By Reference Laboratory Genetics in Spain.

SLC5A1
Specificity
100 %
Genes
100 %

Alternate names

Glucose/galactose Malabsorption; Ggm Is also known as monosaccharide malabsorption;gm;sglt1 deficiency.



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