MMP21 gene related symptoms and diseases

All the information presented here about the MMP21 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MMP21 gene

Symptoms // Phenotype % Cases
Heterotaxy Common - Between 50% and 80% cases
Atrial septal defect Common - Between 50% and 80% cases
Abnormal heart morphology Common - Between 50% and 80% cases
Dyskinesia Common - Between 50% and 80% cases
Situs inversus totalis Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with MMP21 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Dextrocardia
  • Ciliary dyskinesia
  • Transposition of the great arteries
  • Ventricular septal defect
  • Not very common - Between 30% and 50% cases

  • Abnormal tricuspid valve morphology
  • Interrupted aortic arch
  • Nasal polyposis
  • Total anomalous pulmonary venous return

And 24 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to MMP21 gene

Here you will find a list of rare diseases related to the MMP21. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SITUS INVERSUS TOTALIS


Alternate names

SITUS INVERSUS TOTALIS Is also known as complete situs inversus, complete situs inversus viscerum, situs inversus viscerum, siv, situs inversus

Description

Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder.For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (OMIM ).

Most common symptoms of SITUS INVERSUS TOTALIS

  • Intrauterine growth retardation
  • Ventricular septal defect
  • Atrial septal defect
  • Abnormal heart morphology
  • Dyskinesia


More info about SITUS INVERSUS TOTALIS

SOURCES: ORPHANET OMIM

HETEROTAXY, VISCERAL, 7, AUTOSOMAL; HTX7


Description

Autosomal visceral heterotaxy-7 is an autosomal recessive developmental disorder characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs. The phenotype is variable (summary by Guimier et al., 2015).For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (OMIM ).

Most common symptoms of HETEROTAXY, VISCERAL, 7, AUTOSOMAL; HTX7

  • Global developmental delay
  • Ventricular septal defect
  • Atrial septal defect
  • Abnormal heart morphology
  • Abnormal cardiac septum morphology


More info about HETEROTAXY, VISCERAL, 7, AUTOSOMAL; HTX7

SOURCES: OMIM

SITUS AMBIGUUS


Alternate names

SITUS AMBIGUUS Is also known as situs ambiguous, partial situs inversus, incomplete situs inversus


More info about SITUS AMBIGUUS

SOURCES: ORPHANET


Potential gene panels for MMP21 gene

Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SPAG1 ZIC3 CFAP298 MMP21 NME8 LRRC6 ACVR2B INVS DNAI2 ZMYND10

More info about this panel

Heterotaxy, visceral type 7 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MMP21 gene.

More info about this panel

Heterotaxy and Situs Inversus Panel Panel

Finland.

By Blueprint Genetics Heterotaxy and Situs Inversus Panel that also includes the following genes: SPAG1 ZIC3 CFAP298 MMP21 LRRC6 ACVR2B INVS PKD1L1 DNAI2 ZMYND10

More info about this panel

HETEROTAXY & SITUS INVERSUS Panel

Spain.

By Laboratorio de Genetica Clinica SL HETEROTAXY & SITUS INVERSUS that also includes the following genes: ZIC3 MMP21 CRELD1 ACVR2B PKD1L1 CFC1 NKX2-5 CFAP53 LEFTY2 FOXH1

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 AGMO

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more