1. Mendelian
  2. Rare Disease Genes
  3. CLMP

CLMP gene related symptoms and diseases

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

Table of contents:

Top 5 symptoms and clinical features associated to CLMP gene

Symptoms // Phenotype % Cases
Short stature Very Common - Between 80% and 100% cases
Hemivertebrae Very Common - Between 80% and 100% cases
Decreased intestinal transit time Very Common - Between 80% and 100% cases
Intestinal hypoplasia Very Common - Between 80% and 100% cases
Congenital shortened small intestine Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CLMP gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Displacement of the external urethral meatus
  • Absent hand
  • Gastroparesis
  • Volvulus
  • Lipoatrophy
  • Steatorrhea
  • Malnutrition
  • Dextrocardia

And 16 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to CLMP gene

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


CONGENITAL SHORT BOWEL SYNDROME

Description

Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.

Most common symptoms of CONGENITAL SHORT BOWEL SYNDROME

  • Short stature
  • Failure to thrive
  • Cognitive impairment
  • Vomiting
  • Diarrhea


More info about CONGENITAL SHORT BOWEL SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for CLMP gene

Congenital short-bowel syndrome (sequence analysis of CLMP gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CLMP gene.

More info about this panel
Portugal.

Congenital short-bowel syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CLMP gene.

More info about this panel
Germany.

CLMP Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CLMP gene.

More info about this panel
United States.

Gastrointestinal Atresia Panel Panel

Finland.

By Blueprint Genetics Gastrointestinal Atresia Panel that also includes the following genes: SOX2 TTC7A CHD7 RFX6 PTF1A CLMP DHCR7 EFTUD2 FANCB FANCC

More info about this panel
Finland.

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