Merge pull request #17 from monarch-initiative/Achoo_syndrome

Add Achoo Syndrome (Photic Sneeze Reflex) disorder

Author: cmungall

kb/disorders/Achoo_Syndrome.yaml

@@ -0,0 +1,316 @@
+name: Achoo Syndrome
+category: Genetic
+parents:
+- Reflex Disorder
+disease_term:
+  preferred_term: Achoo syndrome
+  term:
+    id: MONDO:0007038
+    label: Achoo syndrome
+synonyms:
+- Photic Sneeze Reflex
+- Autosomal Dominant Compelling Helioophthalmic Outburst Syndrome
+- Sun Sneezing
+- Photic Sneeze Syndrome
+prevalence:
+- population: Chinese
+  percentage: 25.6
+  notes: Self-reported in GWAS cohort (n=3,417). Male 30.1% vs Female 21.1%.
+  evidence:
+  - reference: PMID:30899065
+    supports: SUPPORT
+    snippet: "a Chinese population of 3417 individuals (PSR prevalence at 25.6%)"
+    explanation: Large GWAS study in Chinese population reporting prevalence.
+- population: Japanese
+  percentage: 3.1
+  notes: Self-report in large online sample (n~11,840).
+  evidence:
+  - reference: PMID:31287245
+    supports: SUPPORT
+    snippet: "The overall prevalence of PSS was 3.1%."
+    explanation: Lower prevalence in Japanese cohort may reflect survey methodology
+      or population differences.
+inheritance:
+- name: Autosomal Dominant
+  description: Familial clustering with autosomal dominant transmission pattern,
+    though GWAS indicates complex polygenic architecture.
+  evidence:
+  - reference: PMID:30899065
+    supports: PARTIAL
+    snippet: "the result substantiated the polygenic and non-ethnicity-specific nature behind the PSR phenotype"
+    explanation: While familial patterns suggest autosomal dominant, molecular genetics
+      reveal polygenic complexity.
+pathophysiology:
+- name: Optic-Trigeminal Cross-Activation
+  description: Abrupt luminance changes activate visual pathways that cross-activate
+    trigeminal and autonomic circuits, leading to nasal prickle and sneezing in
+    susceptible individuals.
+  cell_types:
+  - preferred_term: Retinal Ganglion Cell
+    term:
+      id: CL:0000740
+      label: retinal ganglion cell
+  locations:
+  - preferred_term: Visual Cortex
+    term:
+      id: UBERON:0000411
+      label: visual cortex
+  - preferred_term: Trigeminal Ganglion
+    term:
+      id: UBERON:0001675
+      label: trigeminal ganglion
+  - preferred_term: Trigeminal Nerve
+    term:
+      id: UBERON:0001645
+      label: trigeminal nerve
+  - preferred_term: Retina
+    term:
+      id: UBERON:0000966
+      label: retina
+  biological_processes:
+  - preferred_term: Visual Perception
+    term:
+      id: GO:0007601
+      label: visual perception
+  - preferred_term: Sensory Perception of Pain
+    term:
+      id: GO:0019233
+      label: sensory perception of pain
+  evidence:
+  - reference: PMID:31287245
+    supports: SUPPORT
+    snippet: "The optic‐trigeminal summation hypothesis postulates that, during light stimulation, the activated optic nerve pathways cross‐activate the trigeminal nerve pathways"
+    explanation: Cross-activation between visual and trigeminal pathways is a leading
+      hypothesis.
+- name: Parasympathetic Generalization
+  description: Light-evoked activation in parasympathetic pathways spreads to nasal
+    secretomotor pathways, causing nasal prickle preceding the sneeze.
+  cell_types:
+  - preferred_term: Autonomic Neuron
+    term:
+      id: CL:0000107
+      label: autonomic neuron
+  locations:
+  - preferred_term: Nasal Cavity
+    term:
+      id: UBERON:0001707
+      label: nasal cavity
+  evidence:
+  - reference: PMID:31287245
+    supports: SUPPORT
+    snippet: "According to the parasympathetic generalization hypothesis, when a light stimulus excites a specific branch of the parasympathetic nervous system, it activates other branches, resulting in nasal secretion and a tickling sensation in the nasal mucosa"
+    explanation: Parasympathetic generalization is one of the proposed mechanisms.
+- name: Central Cortical Processing
+  description: Visual cortex excitability (particularly cuneus) and co-activation
+    of somatosensory cortices (insula and secondary somatosensory cortex) during
+    photic sneezing suggests a centrally mediated reflex.
+  cell_types:
+  - preferred_term: Neuron
+    term:
+      id: CL:0000540
+      label: neuron
+  locations:
+  - preferred_term: Cerebral Cortex
+    term:
+      id: UBERON:0000956
+      label: cerebral cortex
+  - preferred_term: Insula
+    term:
+      id: UBERON:0002022
+      label: insula of Rolando
+  biological_processes:
+  - preferred_term: Sensory Processing
+    term:
+      id: GO:0050890
+      label: cognition
+  evidence:
+  - reference: PMID:20169159
+    supports: SUPPORT
+    snippet: "we found a generally enhanced excitability of the visual cortex (mainly in the cuneus) to visual stimuli in 'photic sneezers' compared with control subjects"
+    explanation: EEG study demonstrating enhanced visual cortex activation in photic sneezers.
+  - reference: PMID:20169159
+    supports: SUPPORT
+    snippet: "a stronger prickling sensation in the nose of photic sneezers was found to be associated with activation in the insula and stronger activation in the secondary somatosensory cortex"
+    explanation: Somatosensory cortex co-activation during nasal prickling sensation.
+- name: Brainstem Sneeze Circuit
+  description: The sneeze reflex is mediated by neuromedin B (NMB) signaling from nasal
+    sensory neurons to NMB receptor-expressing neurons in the sneeze-evoking region
+    of the brainstem, which project to the caudal ventral respiratory group to execute
+    the sneeze motor pattern.
+  cell_types:
+  - preferred_term: Sensory Neuron
+    term:
+      id: CL:0000101
+      label: sensory neuron
+  locations:
+  - preferred_term: Medulla Oblongata
+    term:
+      id: UBERON:0001896
+      label: medulla oblongata
+  - preferred_term: Trigeminal Nucleus
+    term:
+      id: UBERON:0002925
+      label: trigeminal nucleus
+  biological_processes:
+  - preferred_term: Respiratory Reflex
+    term:
+      id: GO:0002087
+      label: regulation of respiratory gaseous exchange by neurological system process
+  evidence:
+  - reference: PMID:34133943
+    supports: SUPPORT
+    snippet: "neuromedin B (NMB) peptide is essential for signaling sneezing. Ablation of NMB-sensitive postsynaptic neurons in the sneeze-evoking region or deficiency in NMB receptor abolished the sneezing reflex."
+    explanation: NMB-NMBR signaling is the molecular pathway mediating sneeze signal transmission in the brainstem.
+  notes: While this pathway was characterized for chemically-induced sneezing, it likely represents the final common pathway for all sneeze reflexes including photic sneezing.
+phenotypes:
+- category: Neurological
+  name: Light-Triggered Sneezing
+  frequency: OBLIGATE
+  diagnostic: true
+  description: Uncontrollable sneezing provoked by sudden exposure to bright light,
+    typically occurring within seconds of light exposure.
+  notes: Core diagnostic feature
+  evidence:
+  - reference: PMID:30899065
+    supports: SUPPORT
+    snippet: "Photic sneeze reflex (PSR) is an interesting but yet mysterious phenotype featured by individuals' response of sneezing in exposure to bright light."
+    explanation: Light-triggered sneezing is the defining feature of the syndrome.
+- category: Neurological
+  name: Nasal Prickle
+  frequency: FREQUENT
+  description: Subjective nasal tickling or prickle sensation preceding the sneeze,
+    occurring without detectable peripheral nasal electrical activity.
+  evidence:
+  - reference: PMID:31287245
+    supports: SUPPORT
+    snippet: "a tickling sensation in the nasal mucosa, which in turn induces the sneeze reflex"
+    explanation: Nasal tickling sensation is part of the proposed parasympathetic
+      generalization mechanism.
+- category: Neurological
+  name: Migraine
+  frequency: OCCASIONAL
+  description: Increased odds of migraine in individuals with photic sneeze syndrome.
+  phenotype_term:
+    preferred_term: Migraine
+    term:
+      id: HP:0002076
+      label: Migraine
+  evidence:
+  - reference: PMID:31287245
+    supports: SUPPORT
+    snippet: "Individuals with PSS were more likely to suffer from migraine (odds ratio = 1.97, P = 2.18 × 10-9 )"
+    explanation: Strong statistical association between photic sneeze syndrome and
+      migraine.
+- category: Behavioral
+  name: Psychological Distress
+  frequency: OCCASIONAL
+  description: Elevated psychological distress scores observed in some individuals
+    with photic sneeze syndrome.
+  evidence:
+  - reference: PMID:31287245
+    supports: SUPPORT
+    snippet: "clinically relevant psychological distress (K6 score ≥ 5: odds ratio = 1.40, P = 0.00143)"
+    explanation: Statistical association with psychological distress measures.
+- category: Neurological
+  name: Photophobia
+  frequency: OCCASIONAL
+  description: Light sensitivity or intolerance to bright light, sharing trigeminal
+    nerve involvement with the photic sneeze reflex.
+  phenotype_term:
+    preferred_term: Photophobia
+    term:
+      id: HP:0000613
+      label: Photophobia
+  evidence:
+  - reference: PMID:31287245
+    supports: SUPPORT
+    snippet: "intolerance to light, commonly known as photophobia, is thought to result from light-induced activation of the trigeminal nerve system"
+    explanation: Photophobia and photic sneeze syndrome share trigeminal nerve involvement.
+  notes: Both photophobia and PSS involve trigeminal nerve activation in response to light stimuli.
+genetic:
+- name: rs10427255
+  association: Risk
+  notes: Intergenic variant near ZEB2/ACVR2A on chromosome 2q22.3. OR 1.68 in Chinese
+    cohort.
+  evidence:
+  - reference: PMID:30899065
+    supports: SUPPORT
+    snippet: "reproducibly identified both a replicative rs10427255 on 2q22.3 and a novel locus of rs1032507 on 3p12.1"
+    explanation: GWAS-identified risk locus replicated across populations.
+- name: rs1032507
+  association: Protective
+  notes: Intergenic variant near CADM2 on chromosome 3p12.1. OR 0.65 in Chinese
+    cohort. CADM2 is involved in synaptic adhesion.
+  evidence:
+  - reference: PMID:30899065
+    supports: SUPPORT
+    snippet: "a novel locus of rs1032507 on 3p12.1"
+    explanation: Novel protective locus near CADM2, which has plausible neurobiological
+      function.
+- name: ZEB2
+  association: Nearby GWAS locus
+  notes: Gene near rs10427255; potential long-range regulatory effects.
+  evidence:
+  - reference: PMID:30899065
+    supports: PARTIAL
+    snippet: "rs10427255 was 848 kb downstream of ZEB2 (Zinc Finger E-Box Binding Homeobox 2)"
+    explanation: Association is intergenic; ZEB2 involvement is hypothetical.
+- name: CADM2
+  association: Nearby GWAS locus
+  notes: Synaptic adhesion gene near protective variant rs1032507.
+  evidence:
+  - reference: PMID:30899065
+    supports: PARTIAL
+    snippet: "the variant of rs1032507 is adjacently upstream of the coding region of CADM2"
+    explanation: Plausible biological candidate but causal role not proven.
+- name: NMB
+  association: Sneeze pathway gene
+  notes: Neuromedin B is essential for sneeze signal transmission from nasal sensory
+    neurons to the brainstem sneeze-evoking region.
+  evidence:
+  - reference: PMID:34133943
+    supports: SUPPORT
+    snippet: "neuromedin B (NMB) peptide is essential for signaling sneezing"
+    explanation: NMB is the key neuropeptide mediating the sneeze reflex.
+- name: NMBR
+  association: Sneeze pathway gene
+  notes: Neuromedin B receptor expressed in sneeze-evoking region neurons; required
+    for sneeze reflex execution.
+  evidence:
+  - reference: PMID:34133943
+    supports: SUPPORT
+    snippet: "deficiency in NMB receptor abolished the sneezing reflex"
+    explanation: NMBR-expressing neurons are essential for the sneeze reflex circuit.
+environmental:
+- name: Bright Light Exposure
+  description: Sudden exposure to bright light, particularly sunlight, is the triggering
+    stimulus. The reflex habituates with sustained exposure.
+  notes: Intensity, spectral composition, duration, and timing are potentially important
+    stimulus parameters but systematic studies are lacking.
+  evidence:
+  - reference: PMID:31287245
+    supports: SUPPORT
+    snippet: "Photic sneeze syndrome (PSS) is a condition that causes sneezing when the eye is exposed to sudden bright light."
+    explanation: Light is the essential triggering environmental factor.
+treatments:
+- name: Sunglasses
+  description: Wearing sunglasses before exposure to bright light may prevent triggering
+    of the reflex.
+  notes: Simple preventive measure; filtering lenses may be less effective if luminance
+    change rather than specific wavelengths is the trigger.
+  treatment_term:
+    preferred_term: supportive care
+    term:
+      id: MAXO:0000950
+      label: supportive care
+notes: |
+  ACHOO syndrome is a benign, common trait affecting approximately 18-35% of the
+  population depending on study methodology. Prevalence varies significantly across
+  populations (25.6% Chinese, 3.1% Japanese) which may reflect survey methodology
+  differences. The condition has occupational/safety relevance for drivers exiting
+  tunnels and pilots during abrupt light transitions. The acronym stands for
+  Autosomal Dominant Compelling Helioophthalmic Outburst. First described by Collie
+  et al. in 1978 (PMID:728575), though observed since Aristotle. The photic sneeze
+  is not a classical brainstem reflex but involves cortical processing areas.
+  Multiple mechanistic hypotheses remain under investigation, and systematic
+  parametric studies of stimulus conditions are still needed.