Lactase Deficiency, Congenital

Description

Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.

Clinical Features

Phenotypes and symptoms related to Lactase Deficiency, Congenital

  • Tics
  • Diarrhea
  • Carious teeth
  • Metabolic acidosis
  • Dehydration
  • Atherosclerosis
  • Fructose intolerance
  • Lactose intolerance
  • Decreased small intestinal mucosa lactase activity

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Lactase Deficiency, Congenital Recommended genes panels

Panel Name, Specifity and genes Tested/covered
LCT. Detection of the mutation c.4170T>A (p.Tyr1390Ter) by sequencing.

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

LCT
Specificity
100 %
Genes
100 %
LCT. Complete sequencing.

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

LCT
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 %
Congenital lactase deficiency (sequence analysis of LCT gene).

By CGC Genetics in Portugal.

LCT
Specificity
100 %
Genes
100 %
Lactase deficiency, congenital.

By Centogene AG - the Rare Disease Company in Germany.

LCT
Specificity
100 %
Genes
100 %
Congenital lactase deficiency.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

LCT
Specificity
100 %
Genes
100 %
Lactose Intolerance, Adult Type (LCT).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

LCT
Specificity
100 %
Genes
100 %
Lactase persistence: LCT gene -13910C/T polymorphism analysis.

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

LCT
Specificity
100 %
Genes
100 %
LCT.

By Fulgent Genetics Fulgent Genetics in United States.

LCT
Specificity
100 %
Genes
100 %
Cholestasis Panel.

By Blueprint Genetics in Finland.

EPCAM, ABCB11, ABCB4, ATP8B1, TRMU, JAG1, NPHP3, NPHP1, NPHP4, SLC25A13, SMPD1, DGUOK, FAH, MKS1, CFTR, NPC1, NPC2, PEX2, SERPINA1, UGT1A1 , (...)

View the complete list with 26 more genes
Specificity
3 %
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 %
Lactase deficiency, congenital.

By Bioarray in Spain.

LCT
Specificity
100 %
Genes
100 %
LACTOSE INTOLERANCE - CONGENITAL LACTASE DEFICIENCY.

By Laboratorio de Genetica Clinica SL in Spain.

LCT
Specificity
100 %
Genes
100 %
Congenital Lactase Deficiency , Sequencing LCT Gene.

By Reference Laboratory Genetics in Spain.

LCT
Specificity
100 %
Genes
100 %

Alternate names

Lactase Deficiency, Congenital Is also known as alactasia, congenital, disaccharide intolerance ii;.



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