Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction; Hcad

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction; Hcad

ECE1

Clinical Features

Top most frequent phenotypes and symptoms related to Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction; Hcad

Flexion contracture
Hypertension
Ventricular septal defect
Atrial septal defect
Short nose
Patent ductus arteriosus
Posteriorly rotated ears
Micropenis
Prominent nasal bridge
Tachycardia

And another 9 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction; Hcad Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hirschsprung disease, cardiac defects, and autonomic dysfunction (sequence analysis of ECE1 gene). By CGC Genetics (Portugal). ECE1 Specificity 100 % Genes 100 %
Hirschsprung Disease (Non-syndromic) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). ECE1, EDN3, EDNRB, GDNF, NRTN, RET Specificity 17 % Genes 100 %
Hirschsprung Disease, Cardiac Defects and Autonomic Dysfunction via ECE1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). ECE1 Specificity 100 % Genes 100 %
Central hypoventilation syndrome, congenital. By Centogene AG - the Rare Disease Company (Germany). ECE1 Specificity 100 % Genes 100 %
Hirschsprung disease. By Centogene AG - the Rare Disease Company (Germany). ECE1 Specificity 100 % Genes 100 %
Hirschsprung Disease NGS Panel. By Fulgent Genetics Fulgent Genetics (United States). ECE1, EDN3, EDNRB, GDNF, RET Specificity 20 % Genes 100 %
ECE1. By Fulgent Genetics Fulgent Genetics (United States). ECE1 Specificity 100 % Genes 100 %
Study of Molecular Markers Of Essential Hypertension and Associated Cardiovascular Events (37 genes - 57 genetic variants). By HeartGenetics, Genetics and Biotechnology, SA (Portugal). SCNN1A, SCNN1B, SLC12A3, CALCA, WNK1, STK39, CLCNKA, CLCNKB, ADD1, ADRA1A, ECE1, AGTR1, AGTR2, GNB3, GRK4, HSD11B2, NEDD4L, NOS2, NPPA, NR3C2 , (...) View the complete list with 1 more genes Panel complete gene list SCNN1A, SCNN1B, SLC12A3, CALCA, WNK1, STK39, CLCNKA, CLCNKB, ADD1, ADRA1A, ECE1, AGTR1, AGTR2, GNB3, GRK4, HSD11B2, NEDD4L, NOS2, NPPA, NR3C2, REN Specificity 5 % Genes 100 %

You can get up to 5 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

MESH OMIM Genetic Syndrome Finder

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