ECE1 gene related symptoms and diseases

All the information presented here about the ECE1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ECE1 gene

Symptoms // Phenotype % Cases
Malnutrition Common - Between 50% and 80% cases
Abnormal autonomic nervous system physiology Common - Between 50% and 80% cases
Prominent nasal bridge Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Aganglionic megacolon Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with ECE1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Central hypoventilation
  • Enterocolitis
  • Anteverted ears
  • Total colonic aganglionosis
  • Neoplasm of the thyroid gland
  • Hyperaldosteronism
  • Functional abnormality of the gastrointestinal tract
  • Intestinal perforation

And 67 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ECE1 gene

Here you will find a list of rare diseases related to the ECE1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HIRSCHSPRUNG DISEASE


Alternate names

HIRSCHSPRUNG DISEASE Is also known as hscr, aganglionic megacolon, congenital intestinal aganglionosis, hirschsprung disease, megacolon, aganglionic, mgc

Description

Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.

Most common symptoms of HIRSCHSPRUNG DISEASE

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


More info about HIRSCHSPRUNG DISEASE

SOURCES: ORPHANET OMIM

HYPERTENSION, ESSENTIAL


Alternate names

HYPERTENSION, ESSENTIAL Is also known as eht

Description

The Pickering school held that blood pressure has a continuous distribution, that multiple genes and multiple environmental factors determine the level of one's blood pressure just as the determination of stature and intelligence is multifactorial, and that 'essential hypertension' is merely the upper end of the distribution (Pickering, 1978). In this view the person with essential hypertension is one who happens to inherit an aggregate of genes determining hypertension (and also is exposed to exogenous factors that favor hypertension). The Platt school took the view that essential hypertension is a simple mendelian dominant trait (Platt, 1963). McDonough et al. (1964) defended the monogenic idea. See McKusick (1960) and Kurtz and Spence (1993) for reviews. Swales (1985) reviewed the Platt-Pickering controversy as an 'episode in recent medical history.' The Pickering point of view appears to be more consistent with the observations.

Most common symptoms of HYPERTENSION, ESSENTIAL

  • Hypertension
  • Hypertonia
  • Small for gestational age
  • Hypotension
  • Malnutrition


More info about HYPERTENSION, ESSENTIAL

SOURCES: OMIM

HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION; HCAD


Most common symptoms of HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION; HCAD

  • Flexion contracture
  • Hypertension
  • Ventricular septal defect
  • Atrial septal defect
  • Short nose


More info about HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION; HCAD

SOURCES: MESH OMIM


Potential gene panels for ECE1 gene

Hirschsprung disease, cardiac defects, and autonomic dysfunction (sequence analysis of ECE1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ECE1 gene.

More info about this panel

Hirschsprung Disease (Non-syndromic) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hirschsprung Disease (Non-syndromic) Sequencing Panel with CNV Detection that also includes the following genes: ECE1 EDN3 EDNRB GDNF NRTN RET

More info about this panel

Hirschsprung Disease, Cardiac Defects and Autonomic Dysfunction via ECE1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ECE1 gene.

More info about this panel

Central hypoventilation syndrome, congenital Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ECE1 gene.

More info about this panel

Hirschsprung disease Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ECE1 gene.

More info about this panel

Hirschsprung Disease NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hirschsprung Disease NGS Panel that also includes the following genes: ECE1 EDN3 EDNRB GDNF RET

More info about this panel

ECE1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ECE1 gene.

More info about this panel

Study of Molecular Markers Of Essential Hypertension and Associated Cardiovascular Events (37 genes - 57 genetic variants) Panel

Portugal.

By HeartGenetics, Genetics and Biotechnology, SA Study of Molecular Markers Of Essential Hypertension and Associated Cardiovascular Events (37 genes - 57 genetic variants) that also includes the following genes: SCNN1A SCNN1B SLC12A3 CALCA WNK1 STK39 CLCNKA CLCNKB ADD1 ADRA1A

More info about this panel

Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel

United States.

By Otogenetics Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel that also includes the following genes: BCS1L SIX1 SIX5 SNAI2 SMPX SOX2 TBL1X TCF21 TECTA TFCP2

More info about this panel

HIRSCHSPRUNG´S DISEASE: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL HIRSCHSPRUNG´S DISEASE: NGS PANEL that also includes the following genes: SEMA3A SEMA3C SEMA3D SOX10 ZEB2 KIF1BP ECE1 EDN3 EDNRB GDNF

More info about this panel

Hirschsprung Disease, Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

By Reference Laboratory Genetics Hirschsprung Disease, Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: ECE1 EDN3 EDNRB GDNF L1CAM RET

More info about this panel

Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes Panel

Spain.

By Reference Laboratory Genetics Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SGCD SLC25A3 SLC6A4 SNTA1 TAZ

More info about this panel

Non syndromic Hirschsprung Disease: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Non syndromic Hirschsprung Disease: gene sequencing panel that also includes the following genes: SEMA3C SEMA3D ECE1 EDN3 EDNRB GDNF NRG1 NRG3 NRTN RET

More info about this panel


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