Disorder
- Name: Meckel Syndrome
- Category: Genetic
- Existing deep-research providers: falcon
- Existing evidence reference count in YAML: 77
Key Pathophysiology Nodes
- Primary cilium membrane protein dysfunction (TMEM67/meckelin)
- Ciliary base protein dysfunction (MKS1)
- Basal body localization without proper ciliogenesis
- Defective cilia formation across multiple tissues
- Loss of primary cilia (failed ciliogenesis)
- Reduced axonemal microtubule posttranslational modifications
- Impaired initiation of ciliogenesis
- TMEM67 cleavage uncouples ciliogenesis and Wnt signaling
- TMEM17 loss disrupts Sonic Hedgehog signaling
- Altered Hedgehog signaling in neural tube patterning
- Altered Hedgehog signaling in limb patterning
- Deep research literature mapping
Citation Inventory (for evidence mapping)