Acromesomelia and painful neuropathy

Disease ID:28
Name:Acromesomelia and painful neuropathy
Associated with:1 targets
0 immuno-relevant targets
0 immuno-relevant ligands
Synonyms
acromesomelic dysplasia | neuropathy
Database Links
Disease Ontology: DOID:870, DOID:0080049

Targets

Nav1.7
Mutations:  Nav1.7 is associated with 1 mutation. Click here for details

Ligands

No ligand related data available for Acromesomelia and painful neuropathy

References

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1. Hoeijmakers JG, Han C, Merkies IS, Macala LJ, Lauria G, Gerrits MM, Dib-Hajj SD, Faber CG, Waxman SG. (2012) Small nerve fibres, small hands and small feet: a new syndrome of pain, dysautonomia and acromesomelia in a kindred with a novel NaV1.7 mutation. Brain, 135 (Pt 2): 345-58. [PMID:22286749]