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Hemochromatosis type 4

Disease Export to PDF
Name:
Hemochromatosis type 4
Description:
Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.
ORPHAcode:
139491
Synonyms:
Autosomal dominant hereditary hemochromatosis
Ferroportin disease
Hemochromatosis due to defect in ferroportin
XREF(s):
Orphanet
OMIM
MeSH
ICD-10
Analyte(s):
SLC40A1
SLC40A1
Created:
13 May 2019 - 01:02
Changed:
01 May 2022 - 06:55
  • 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
  • Hemochromatosis hereditary (types 2 to 5) (5 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    TFR2 100.00 1 Part of Gastro-pneumo panel
    FTH1 100.00 1 Part of Gastro-pneumo panel
    SLC40A1 100.00 1 Part of Gastro-pneumo panel
    HJV 100.00 1 Part of Gastro-pneumo panel
    HAMP 100.00 1 Part of Gastro-pneumo panel