Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies: genes and variants
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies is linked to 1 analyzed protein (ATP1A2). 1 DNA variants are known to cause it; 5 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
ATP1A2: Sodium/potassium-transporting ATPase subunit alpha-2
It restores sodium and potassium gradients after activity in astrocytes and other excitable tissues and thereby supports neuronal ion homeostasis. Pathogenic variants are a major cause of familial hemiplegic migraine type 2 and can produce severe episodic neurologic disease.
1 disease-causing and 5 uncertain variants in ATP1A2 are linked to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies.
Known disease-causing variants in Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ATP1A2 R763L | 763 | Cytoplasmic | Disease-causing (★) |
Same protein, different disease
- Familial hemiplegic migraine is also caused by ATP1A2 variants; they fall mostly in different places as the Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies variants (33 disease-causing).
- Migraine, familial hemiplegic, 1 is also caused by ATP1A2 variants; they fall mostly in different places as the Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies variants (19 disease-causing).
- Alternating hemiplegia of childhood is also caused by ATP1A2 variants; they fall mostly in different places as the Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies variants (7 disease-causing).
Diseases related to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
- Migraine, familial hemiplegic, 1, also linked to ATP1A2
- Familial hemiplegic migraine, also linked to ATP1A2
- Alternating hemiplegia of childhood, also linked to ATP1A2
- Paroxysmal central nervous system disorders, also linked to ATP1A2
Frequently asked questions
Which genes are linked to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies?
In CATVariant, Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies is linked to 1 analyzed protein: ATP1A2 (Sodium/potassium-transporting ATPase subunit alpha-2).
How many genetic variants are linked to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies?
14 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 5 are of uncertain significance or have conflicting reports.
Which uncertain variants in Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
Download every variant as CSV · Browse all diseases · Methods · About the Center