Details of Disease

General Information of Disease (ID: DISVG5MT)

Disease Name Hereditary hemochromatosis
Synonyms hemochromatosis; haemochromatosis; iron storage disorder; diabetes bronze; hemochromatosis, hereditary
Definition
An inherited metabolic disorder characterized by iron accumulation in the tissues.|Editor notes: HH1 is not rare, so the current placement of generic HH under rare inborn errors of metabolism is technically incorrect. However, reclassifying on the basis of prelvalence does not make biological sense since the mechanism is the same. See notes on MONDO:0019052
Disease Hierarchy
DIS372GD: Disorder of iron metabolism and transport
DISPP7QB: Hemosiderosis
DIS0HB59: Inborn metal metabolism disorder
DISVG5MT: Hereditary hemochromatosis
Disease Identifiers
MONDO ID
MONDO_0006507
MESH ID
D006432
UMLS CUI
C0392514
MedGen ID
140272
SNOMED CT ID
35400008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 30 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CD160 TTOFEAS Limited Biomarker [1]
CHRM2 TTYEG6Q Limited Biomarker [2]
CRTC1 TT4GO0F Limited Biomarker [3]
FDXR TT3W4IX Limited Biomarker [4]
FGF10 TTNPEFX Limited Altered Expression [5]
IGFBP6 TTLAYV8 Limited Biomarker [6]
IL11RA TTZPLJS Limited Biomarker [7]
L3MBTL3 TTQDMJN Limited Biomarker [8]
P2RY8 TT84EWY Limited Altered Expression [9]
PNPLA3 TTEUAEH Limited Genetic Variation [10]
STAB2 TTM3DAY Limited Genetic Variation [11]
BMP6 TT07RIB Strong Biomarker [12]
DYRK1B TTYGQ8A Strong Altered Expression [13]
GPRC6A TTI1PRE Strong Biomarker [14]
HP TTLC8E1 Strong Biomarker [15]
LPAR3 TTE2YJR Strong Biomarker [14]
MRGPRX1 TTIX6PK Strong Biomarker [14]
MYH7 TTNIMDP Strong Biomarker [16]
NODAL TTK2O1Q Strong Biomarker [17]
OXER1 TT7WBSV Strong Biomarker [14]
PCSK7 TTD30LY Strong Biomarker [18]
PRKCI TTWJTHX Strong Biomarker [19]
SMAD6 TTON5JB Strong Altered Expression [20]
TF TT8WXAV Strong Genetic Variation [21]
TMPRSS6 TTL9KE7 Strong Altered Expression [22]
USP14 TTVSYP9 Strong Biomarker [23]
GLI2 TT045OH Definitive Altered Expression [24]
HLA-A TTHONFT Definitive Genetic Variation [25]
SHH TTIENCJ Definitive Biomarker [26]
TFRC TT8MG4S Definitive Biomarker [27]
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⏷ Show the Full List of 30 DTT(s)
This Disease Is Related to 3 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
AKR1D1 DEVON3M Strong Biomarker [28]
ALAS2 DE437BY Strong Genetic Variation [29]
FXN DEXVHDB Strong Biomarker [30]
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This Disease Is Related to 62 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ARF6 OTVV7KJO Limited Biomarker [31]
FGF5 OTQXGHBY Limited Biomarker [6]
FOXE1 OT5IR5IT Limited Biomarker [32]
FTL OTYQA8A6 Limited Biomarker [33]
GDF9 OTNTVKVU Limited Biomarker [34]
GPC1 OTQKRSSV Limited Biomarker [35]
GRB7 OTF8Y9XY Limited Biomarker [36]
HERC4 OTU4DSDE Limited Biomarker [37]
HLA-F OT76CM19 Limited Biomarker [38]
IFIT3 OTPGHZB9 Limited Biomarker [39]
INTU OTXB13E6 Limited Altered Expression [40]
IREB2 OT747D24 Limited Altered Expression [41]
MYBPH OTQJBPUR Limited Biomarker [42]
NDP OTGDJ4US Limited Biomarker [43]
NEO1 OTGJ1997 Limited Genetic Variation [44]
NOP53 OTA2YKO6 Limited Biomarker [39]
PARN OTTG4PE3 Limited Genetic Variation [45]
PTCH2 OTOQ0K9V Limited Altered Expression [46]
PTCHD3 OTFQ1VGM Limited Biomarker [47]
STIP1 OT7TXLOX Limited Biomarker [39]
SUFU OT0IRYG1 Limited Altered Expression [48]
PANK2 OTFBW889 Disputed Genetic Variation [49]
CP OTM8JE4Y moderate Biomarker [50]
HEPH OTZ2F15Z Moderate X-linked [51]
ACO1 OT2VUR7L Strong Biomarker [41]
ARL13B OT9PYPV1 Strong Biomarker [52]
ARL6 OTLV3SBS Strong Genetic Variation [52]
C1QTNF6 OT57EPQC Strong Biomarker [53]
CCL8 OTCTWYN8 Strong Biomarker [17]
CHMP2B OTZA7RJB Strong Biomarker [54]
CPLANE2 OTUQO14U Strong Biomarker [52]
CYBRD1 OTUTVBES Strong Autosomal recessive [51]
DKC1 OTX7DJR6 Strong Genetic Variation [55]
DMRT1 OT5PU9U1 Strong Biomarker [54]
DOCK11 OTFSTN6A Strong Biomarker [56]
EVC2 OTY0M5SD Strong Biomarker [57]
FGFRL1 OT8HZ3ZL Strong Biomarker [58]
FZD4 OTGLZIE0 Strong Biomarker [14]
GPC5 OT8NR7GC Strong Biomarker [59]
GPR151 OT7EACU6 Strong Biomarker [14]
HHIP OT77RQYS Strong Biomarker [60]
HILPDA OTEID3ZM Strong Biomarker [61]
KCTD11 OT64DFBU Strong Biomarker [62]
KIAA0586 OTOZRC1U Strong Biomarker [63]
LGR6 OTPZ1PWR Strong Biomarker [14]
MED9 OT59OKEJ Strong Biomarker [61]
MRGPRX3 OTRKCCDS Strong Biomarker [14]
MRGPRX4 OTOBHZVA Strong Biomarker [14]
MYL3 OTKD3RSX Strong Biomarker [16]
NMBR OTBJEGPN Strong Genetic Variation [64]
NSUN2 OTZCNM33 Strong Biomarker [61]
RAB11A OTC4FW0J Strong Genetic Variation [52]
RAB23 OTBAKFBR Strong Biomarker [52]
RAB34 OTHKTSA0 Strong Biomarker [52]
RAB8A OTPB54Y3 Strong Biomarker [52]
SAG OTDNS3ZQ Strong Genetic Variation [65]
ARL3 OT3OGOMX Definitive Altered Expression [66]
GLI3 OTKDOE94 Definitive Biomarker [67]
HJV OT4235J2 Definitive Genetic Variation [68]
KIF7 OT1J6NAW Definitive Biomarker [66]
PTCH1 OTMG07H5 Definitive Genetic Variation [69]
TFR2 OTMYCCEO Definitive Genetic Variation [70]
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⏷ Show the Full List of 62 DOT(s)

References

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24 The stem cell-associated transcription co-factor, ZNF521, interacts with GLI1 and GLI2 and enhances the activity of the Sonic hedgehog pathway.Cell Death Dis. 2019 Sep 26;10(10):715. doi: 10.1038/s41419-019-1946-x.
25 Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis.Braz J Med Biol Res. 2002 Mar;35(3):329-35. doi: 10.1590/s0100-879x2002000300007.
26 Potential role of Hedgehog signaling pathway and myofibroblastic differentiation in central giant cell granuloma-A preliminary study.J Oral Pathol Med. 2019 Oct;48(9):855-860. doi: 10.1111/jop.12949. Epub 2019 Aug 29.
27 Serum soluble transferrin receptor concentrations are increased in central obesity. Results from a screening programme for hereditary hemochromatosis in men with hyperferritinemia.Clin Chim Acta. 2009 Feb;400(1-2):111-6. doi: 10.1016/j.cca.2008.10.019. Epub 2008 Oct 30.
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33 Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population.Blood Cells Mol Dis. 2016 Oct;61:10-5. doi: 10.1016/j.bcmd.2016.07.004. Epub 2016 Jul 22.
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35 miR-324-5p is up regulated in end-stage osteoarthritis and regulates Indian Hedgehog signalling by differing mechanisms in human and mouse.Matrix Biol. 2019 Apr;77:87-100. doi: 10.1016/j.matbio.2018.08.009. Epub 2018 Sep 5.
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37 E3 ligase Herc4 regulates Hedgehog signalling through promoting Smoothened degradation.J Mol Cell Biol. 2019 Sep 19;11(9):791-803. doi: 10.1093/jmcb/mjz024.
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39 Mild Hypobaric Hypoxia Enhances Post-exercise Vascular Responses in Young Male Runners.Front Physiol. 2019 May 24;10:546. doi: 10.3389/fphys.2019.00546. eCollection 2019.
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43 Hedgehog regulates Norrie disease protein to drive neural progenitor self-renewal.Hum Mol Genet. 2013 Mar 1;22(5):1005-16. doi: 10.1093/hmg/dds505. Epub 2012 Nov 30.
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