GUCY1A1 gene related symptoms and diseases

All the information presented here about the GUCY1A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GUCY1A1 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Cerebral hemorrhage Very Common - Between 80% and 100% cases
Moyamoya phenomenon Very Common - Between 80% and 100% cases
Impaired platelet aggregation Very Common - Between 80% and 100% cases
Achalasia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with GUCY1A1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Abnormality of the cerebral vasculature
  • Raynaud phenomenon
  • Transient ischemic attack
  • Abnormality of the vasculature
  • Optic neuropathy
  • Impotence
  • Cutis marmorata
  • Hypertension

And 10 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GUCY1A1 gene

Here you will find a list of rare diseases related to the GUCY1A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MOYAMOYA DISEASE WITH EARLY-ONSET ACHALASIA


Description

Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease; see this term). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.

Most common symptoms of MOYAMOYA DISEASE WITH EARLY-ONSET ACHALASIA

  • Seizures
  • Hypertension
  • Peripheral neuropathy
  • Dysphagia
  • Thrombocytopenia


More info about MOYAMOYA DISEASE WITH EARLY-ONSET ACHALASIA

SOURCES: ORPHANET OMIM


Potential gene panels for GUCY1A1 gene

Moyamoya disease 6 with achalasia (sequence analysis of GUCY1A3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GUCY1A1 gene.

More info about this panel

Moyamoya disease 6 with achalasia (sequence analysis of GUCY1A3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GUCY1A1 gene.

More info about this panel

Moyamoya type 6 with achalasia Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GUCY1A1 gene.

More info about this panel

Achalasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Achalasia: Sequencing Panel that also includes the following genes: ACTB AAAS GMPPA FLVCR1 AIRE GUCY1A1

More info about this panel

GUCY1A3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GUCY1A1 gene.

More info about this panel


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