LCT gene related symptoms and diseases

All the information presented here about the LCT gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to LCT gene

Symptoms // Phenotype % Cases
Diarrhea Very Common - Between 80% and 100% cases
Carious teeth Very Common - Between 80% and 100% cases
Metabolic acidosis Very Common - Between 80% and 100% cases
Dehydration Very Common - Between 80% and 100% cases
Atherosclerosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with LCT gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Fructose intolerance
  • Lactose intolerance
  • Decreased small intestinal mucosa lactase activity
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to LCT gene

Here you will find a list of rare diseases related to the LCT. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CONGENITAL LACTASE DEFICIENCY


Alternate names

CONGENITAL LACTASE DEFICIENCY Is also known as disaccharide intolerance ii, alactasia, 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.

Most common symptoms of CONGENITAL LACTASE DEFICIENCY

  • Diarrhea
  • Carious teeth
  • Metabolic acidosis
  • Dehydration
  • Atherosclerosis


More info about CONGENITAL LACTASE DEFICIENCY

SOURCES: ORPHANET OMIM MESH


Potential gene panels for LCT gene

LCT. Detection of the mutation c.4170T>A (p.Tyr1390Ter) by sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the LCT gene.

More info about this panel

LCT. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the LCT gene.

More info about this panel

Congenital Diarrhea Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Seq Analysis that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR

More info about this panel

Congenital Diarrhea Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Del/Dup Panel that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR

More info about this panel

Congenital Diarrhea Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Seq + Del/Dup Panel that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR

More info about this panel

Congenital lactase deficiency (sequence analysis of LCT gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LCT gene.

More info about this panel

Lactase deficiency, congenital Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the LCT gene.

More info about this panel

Congenital lactase deficiency Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the LCT gene.

More info about this panel

Lactose Intolerance, Adult Type (LCT) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the LCT gene.

More info about this panel

Lactase persistence: LCT gene -13910C/T polymorphism analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the LCT gene.

More info about this panel

LCT Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LCT gene.

More info about this panel

Cholestasis Panel Panel

Finland.

By Blueprint Genetics Cholestasis Panel that also includes the following genes: SLC25A13 SMPD1 SPINT2 EPCAM TJP2 UGT1A1 VPS33B NEUROG3 LMF1 NPC2

More info about this panel

Congenital Diarrhea Panel Panel

Finland.

By Blueprint Genetics Congenital Diarrhea Panel that also includes the following genes: SAR1B SI SKIV2L SLC10A2 SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel

Congenital Mono- and Disaccharide Disorders Panel Panel

Finland.

By Blueprint Genetics Congenital Mono- and Disaccharide Disorders Panel that also includes the following genes: SI SLC2A1 SLC2A2 SLC5A1 GALE GALK1 GALT ALDOB LCT

More info about this panel

Lactase deficiency, congenital Panel

Spain.

By Bioarray

This panel specifically test the LCT gene.

More info about this panel

Congenital Lactase Deficiency , Sequencing LCT Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the LCT gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SYNE1-AS1 RXRA SPTA1 COA6

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more