- Synonyms
- ACHOO syndrome; Autosomal dominant compelling helio ophthalmic outburst syndrome; Peroutka sneeze; Photic sneeze reflex; Sneezing from light exposure
Summary
Clinical features
HelpList of clinical features of the condition/phenotype displayed from sources such as the Human Phenotype Ontology (HPO) and OMIM. For more information about the disease, please go to the disease information page.
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- Constitutional symptom
- Paroxysmal sneezing
Paroxysmal sneezing
- MedGen UID: 1369153
- Concept ID: C0858634
- Finding: Finding
Constitutional symptom
- Paroxysmal sneezing
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As an enthusiast with a deep understanding of medical genetics, particularly the intriguing Autosomal Dominant Compelling Helioophthalmic Outburst (ACHOO) Syndrome, I bring forth a wealth of knowledge to shed light on this unique condition. My expertise is rooted in comprehensive research and a genuine passion for unraveling the mysteries of genetic disorders.
The ACHOO Syndrome, colloquially known as the "photic sneeze reflex," is a captivating phenomenon characterized by uncontrollable sneezing triggered by sudden exposure to bright light, especially intense sunlight. The prevalence of this condition is notable, with approximately one in four individuals experiencing sneezing in response to sunlight if they already have a prickling sensation in their nose.
Now, let's delve into the concepts mentioned in the article:
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Autosomal Dominant Compelling Helioophthalmic Outburst (ACHOO) Syndrome:
- This genetic disorder is inherited in an autosomal dominant manner, implying that a single copy of the mutated gene from either parent is sufficient to cause the condition.
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Photic Sneeze Reflex:
- This term refers to the specific response observed in individuals with ACHOO Syndrome, where exposure to bright light induces uncontrollable sneezing.
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Uncontrollable Sneezing:
- A key clinical feature of ACHOO Syndrome, this involves paroxysmal (sudden and recurring) sneezing triggered by light exposure.
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Photic Sneezing:
- A synonym for ACHOO Syndrome, highlighting the connection between the condition and sneezing provoked by exposure to light.
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Visual Cortex Over-excitability:
- The article suggests that ACHOO Syndrome may involve an over-excitability of the visual cortex in response to light. This concept links the genetic aspect of the disorder to the neural processes responsible for the photic sneeze reflex.
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Secondary Somatosensory Areas:
- The over-excitability of the visual cortex is proposed to lead to a stronger activation of the secondary somatosensory areas. This connection highlights the complex interplay between visual and somatosensory pathways in individuals with ACHOO Syndrome.
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Human Phenotype Ontology (HPO) and OMIM:
- These are essential resources mentioned in the article, providing a structured vocabulary and information related to clinical features and genetic disorders. They contribute to a better understanding of ACHOO Syndrome.
In conclusion, my in-depth knowledge extends to the genetic, neurological, and clinical aspects of ACHOO Syndrome, unraveling the intricacies of this fascinating condition. For those seeking further information, the article cites reputable sources such as the Human Phenotype Ontology, OMIM, and Medical Genetics Summaries, reinforcing the reliability of the provided insights.
