Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction; Hcad

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.


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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
Specificity
5 %
Genes
100 %

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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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