ECM1 gene related symptoms and diseases

All the information presented here about the ECM1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ECM1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Delusions Very Common - Between 80% and 100% cases
Hoarse voice Very Common - Between 80% and 100% cases
Oligodontia Very Common - Between 80% and 100% cases
Oral-pharyngeal dysphagia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ECM1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Acne
  • Fragile skin
  • Alopecia of scalp
  • Pustule
  • Microglossia
  • Thickened skin
  • Verrucae
  • Nasal polyposis

And 28 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ECM1 gene

Here you will find a list of rare diseases related to the ECM1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


LIPOID PROTEINOSIS


Alternate names

LIPOID PROTEINOSIS Is also known as lipoid proteinosis, urbach-wiethe disease, hyalinosis cutis et mucosae

Description

Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.

Most common symptoms of LIPOID PROTEINOSIS

  • Intellectual disability
  • Seizures
  • High palate
  • Dysphagia
  • Respiratory distress


More info about LIPOID PROTEINOSIS

SOURCES: OMIM MESH ORPHANET


Potential gene panels for ECM1 gene

Urbach-Wiethe disease (sequence analysis of ECM1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ECM1 gene.

More info about this panel

Retinitis pigmentosa (NGS panel for 72 genes) Panel

Portugal.

By CGC Genetics Retinitis pigmentosa (NGS panel for 72 genes) that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

More info about this panel

ECM1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ECM1 gene.

More info about this panel

Comprehensive Epilepsy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1

More info about this panel

Lipoid Proteinosis: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the ECM1 gene.

More info about this panel


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