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.
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
Search interest in GUCY1A1
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 Portugal.
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 Portugal.
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 Germany.
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 United States.
GUCY1A3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GUCY1A1 gene.
More info about this panel United States.
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