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Porphyria due to ALA dehydratase deficiency

Disease Export to PDF
Name:
Porphyria due to ALA dehydratase deficiency
Description:
A rare malignant small round cell bone tumor with strong metastatic potential.
ORPHAcode:
100924
Synonyms:
ALAD porphyria
Porphyria due to ALAD deficiency
Porphyria due to delta-aminolevulinate dehydratase deficiency
Porphyria of Doss
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
ALAD
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