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Transaldolase deficiency

Disease Export to PDF
Name:
Transaldolase deficiency
Description:
Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.
ORPHAcode:
101028
Synonyms:
TALDO deficiency
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
TALDO1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Metabolic diseases with hepatic disorders (20 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ATP7B 100.00 1 Part of Custom Gastro-pneumo panel
    CPT1A 100.00 1 Part of Custom Gastro-pneumo panel
    CYP27A1 100.00 1 Part of Custom Gastro-pneumo panel
    DGUOK 100.00 1 Part of Custom Gastro-pneumo panel
    DHCR7 100.00 1 Part of Custom Gastro-pneumo panel
    EHHADH 100.00 1 Part of Custom Gastro-pneumo panel
    GBE1 100.00 1 Part of Custom Gastro-pneumo panel
    GNAS 0.00 1 Part of Custom Gastro-pneumo panel / only Exons 8 and 9
    GUSB 100.00 1 Part of Custom Gastro-pneumo panel
    LIPA 100.00 1 Part of Custom Gastro-pneumo panel
    MPV17 100.00 1 Part of Custom Gastro-pneumo panel
    NEU1 100.00 1 Part of Custom Gastro-pneumo panel
    NPC1 100.00 1 Part of Custom Gastro-pneumo panel
    NPC2 100.00 1 Part of Custom Gastro-pneumo panel
    POLG 100.00 1 Part of Custom Gastro-pneumo panel
    SI 100.00 1 Part of Custom Gastro-pneumo panel
    SLC25A13 100.00 1 Part of Custom Gastro-pneumo panel
    SMPD1 100.00 1 Part of Custom Gastro-pneumo panel
    TALDO1 100.00 1 Part of Custom Gastro-pneumo panel
    TRMU 100.00 1 Part of Custom Gastro-pneumo panel