1 Matching Annotations
  1. Jul 2024
    1. Case: no patient ID#, 36yo donor , female

      Disease Assertion: UCD/OTCD

      Family Info:

      Case Presenting HPOs: adult onset (HP:0003581), oriticaciduria (HP:0003218), irritability (HP:0000737), protein avoidance

      Case HPO FreeText: hyperammonemic encephalopathy

      Case NOT HPOs:

      Case NOT HPO Free Text:

      Case Previous Testing: N/A

      Supplemental Data: TABLE 1, She is vegeterian. The symptoms of OTCD started showing after the patient donated 60% of liver to her sibling. the information reported in this is the biochemical results during hyperammonemic episode following the transplantation. the patient became irritable and confused, and her level of consciousness deteriorated markedly. After hemodialysis the patient recovered.

      Variant: NM_000531.6: c.429T>A(p.Tyr143*)

      ClinVarID: 1072591

      CAID: CA412723166

      gnomAD:

      Gene Name: OTC (ornithine transcarbamylase)