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Acute intermittent porphyria

Disease Export to PDF
Name:
Acute intermittent porphyria
Description:
A rare, severe form of the acute hepatic porphyrias characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.
ORPHAcode:
79276
XREF(s):
Orphanet
MeSH
OMIM
ICD-10
Analyte(s):
HMBS
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Porphyria (10 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    HMBS 100.00 0
    PPOX 100.00 0
    CPOX 100.00 0
    FECH 100.00 0
    ALAS2 100.00 0
    UROD 100.00 0
    UROS 100.00 0
    ALAD 100.00 0
    GATA1 100.00 0
    HFE 100.00 0