Familial Dysautonomia

About the Disease
Neuropathy, Hereditary Sensory and Autonomic, Type Iii, also known as familial dysautonomia, is related to autonomic nervous system disease and insensitivity to pain, congenital, with anhidrosis, and has symptoms including constipation and diarrhea. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Iii is ELP1 (Elongator Acetyltransferase Complex Subunit 1), and among its related pathways/superpathways are Chromatin organization and Signaling by Receptor Tyrosine Kinases. The drugs Carbidopa and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include skin, tongue and eye, and related phenotypes are hyperhidrosis and feeding difficulties in infancy

Common Targets
G3630 | NOS1 | NTRK1 | DNA2 | ATP7A | EDNRB | ANK1 | ELP1 | DGUOK | SUCLG1 | EIF4G1 | CHIA | COL5A2 | MFN2 | Poly [ADP-ribose] polymerase (nonspecified subtype) | GAB2 | HSPB1 | PAX6 | CNKSR1 | PAF1 | NAIP | ACE | COL6A3 | COQ9 | GZMH | ATL1 | DDC

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