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Aceruloplasminemia

Disease Export to PDF
Name:
Aceruloplasminemia
Description:
A rare adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.
ORPHAcode:
48818
Synonyms:
Hereditary ceruloplasmin deficiency
XREF(s):
Orphanet
MeSH
ICD-10
OMIM
Analyte(s):
CP
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Hemochromatosis (17 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ALAS2 100.00 1 NM_000032
    CDAN1 100.00 1 NM_138477
    CP 100.00 1 NM_000096
    FTH1 100.00 1 NM_002032
    FTL 100.00 1 NM_000146
    HAMP 100.00 1 Core gene / NM_021175
    HFE1 100.00 1 NM_000410
    HJV 100.00 1 Core gene / NM_213653
    HMOX1 100.00 1 NM_002133
    SEC23B 100.00 1 NM_006363
    SLC11A2 100.00 1 Core gene / NM_000617
    SLC25A38 100.00 1 NM_017875
    SLC40A1 100.00 1 NM_014585
    STEAP3 100.00 1 NM_001008410
    TF 100.00 1 NM_001063
    TFR2 100.00 1 Core gene / NM_003227
    TMPRSS6 100.00 1 NM_153609
  • Neurodegeneration with Brain Iron Accumulation (NBIA) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AP4M1 100.00 1
    ATP13A2 100.00 1
    C19ORF12 100.00 1
    COASY 100.00 1
    CP 100.00 1
    CRAT 100.00 1
    DCAF17 100.00 1
    DDHD1 100.00 1
    FA2H 100.00 1
    FTL 100.00 1
    GTPBP2 100.00 1
    PANK2 100.00 1
    PLA2G6 100.00 1
    SCP2 100.00 1
    WDR45 100.00 1
    REPS1 100.00 1