MCID: RRH023
MIFTS: 20

Rare Hereditary Hemochromatosis

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Rare Hereditary Hemochromatosis

MalaCards integrated aliases for Rare Hereditary Hemochromatosis:

Name: Rare Hereditary Hemochromatosis 58
Iron Overload Disease 58

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58

Age Of Onset:

All ages 58

Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 32 E83.1
UMLS via Orphanet 72 C0018995 C0282193
Orphanet 58 ORPHA220489

Summaries for Rare Hereditary Hemochromatosis

Orphanet: 58 Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease.

MalaCards based summary: Rare Hereditary Hemochromatosis, also known as iron overload disease, is related to hemochromatosis, type 1 and hemochromatosis, type 3. Affiliated tissues include liver, skeletal muscle and t cells.

Related Diseases for Rare Hereditary Hemochromatosis

Graphical network of the top 20 diseases related to Rare Hereditary Hemochromatosis:



Diseases related to Rare Hereditary Hemochromatosis

Symptoms & Phenotypes for Rare Hereditary Hemochromatosis

Drugs & Therapeutics for Rare Hereditary Hemochromatosis

Search Clinical Trials, NIH Clinical Center for Rare Hereditary Hemochromatosis

Genetic Tests for Rare Hereditary Hemochromatosis

Anatomical Context for Rare Hereditary Hemochromatosis

Organs/tissues related to Rare Hereditary Hemochromatosis:

MalaCards : Liver, Skeletal Muscle, T Cells, Retina, Colon, Breast, Lung

Publications for Rare Hereditary Hemochromatosis

Articles related to Rare Hereditary Hemochromatosis:

(show top 50) (show all 153)
# Title Authors PMID Year
1
Destructive effect of iron overload in brain tissue of albino rats: Ameliorative role of silver immobilized organo-modified casein nanocomposite as co-treating agent with Deferasirox. 62
34052583 2021
2
Network pharmacology-based identification of the key mechanism of quercetin acting on hemochromatosis. 62
33960370 2021
3
Hfe Gene Knock-Out in a Mouse Model of Hereditary Hemochromatosis Affects Bodily Iron Isotope Compositions. 62
34722560 2021
4
[Aceruloplasminemia, a rare condition not to be overlooked]. 62
32682623 2020
5
Strain Analysis Using Feature-Tracking CMR to Detect LV Systolic Dysfunction in Myocardial Iron Overload Disease. 62
32739373 2020
6
Hereditary hemochromatosis promotes colitis and colon cancer and causes bacterial dysbiosis in mice. 62
32955078 2020
7
A Novel Star Like Eight-Arm Polyethylene Glycol-Deferoxamine Conjugate for Iron Overload Therapy. 62
32272723 2020
8
Extrahepatic deficiency of transferrin receptor 2 is associated with increased erythropoiesis independent of iron overload. 62
32054685 2020
9
Chronic exposure to excess iron promotes EMT and cancer via p53 loss in pancreatic cancer. 62
32373202 2020
10
HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case. 62
32153640 2020
11
Facile Access to Fe(III)-Complexing Cyclic Hydroxamic Acids in a Three-Component Format. 62
30823493 2019
12
Deferoxamine-induced high expression of TfR1 and DMT1 enhanced iron uptake in triple-negative breast cancer cells by activating IL-6/PI3K/AKT pathway. 62
31213851 2019
13
[Body iron accumulation in obesity, diabetes and its complications, and the possibility of therapeutic application by iron regulation]. 62
31787683 2019
14
Quantification of liver iron overload disease with laser ablation inductively coupled plasma mass spectrometry. 62
30514216 2018
15
Iron as a Therapeutic Target in HFE-Related Hemochromatosis: Usual and Novel Aspects. 62
30486249 2018
16
Iron chelation inhibits cancer cell growth and modulates global histone methylation status in colorectal cancer. 62
29951879 2018
17
A novel, nontoxic iron chelator, super-polyphenol, effectively induces apoptosis in human cancer cell lines. 62
30214682 2018
18
Cyclic Hydroxamic Acid Analogues of Bacterial Siderophores as Iron-Complexing Agents prepared through the Castagnoli-Cushman Reaction of Unprotected Oximes. 62
29072340 2017
19
Expanding the Therapeutic Potential of the Iron Chelator Deferasirox in the Development of Aqueous Stable Ti(IV) Anticancer Complexes. 62
28644630 2017
20
[Expression and Significance of HIF-1α in Erythropoiesis of Secondary Iron Overload Disease after Irradiation Damage]. 62
28641612 2017
21
Evaluation of iron chelating and antioxidant potential of Epilobium hirsutum for the management of iron overload disease. 62
28320102 2017
22
Iron overload patients with unknown etiology from national survey in Japan. 62
27848180 2017
23
Left atrial active contractile function parameters assessed by cardiac MR are sensitive to myocardial iron. 62
27459111 2017
24
Hydroxypyridinone Chelators: From Iron Scavenging to Radiopharmaceuticals for PET Imaging with Gallium-68. 62
28075350 2017
25
Altered Erythropoiesis in Mouse Models of Type 3 Hemochromatosis. 62
28540293 2017
26
Investigation into Iron Chelating and Antioxidant Potential of Melilotus officinalis in Iron Dextran Induced Iron Overloaded Sprague Dawley Rat Model. 62
27626608 2016
27
Melanin nanoparticles as an endogenous agent for efficient iron overload therapy. 62
32263725 2016
28
Increased Retinal Expression of the Pro-Angiogenic Receptor GPR91 via BMP6 in a Mouse Model of Juvenile Hemochromatosis. 62
27046124 2016
29
HJV and HFE Play Distinct Roles in Regulating Hepcidin. 62
25608116 2015
30
Redox properties and activity of iron-citrate complexes: evidence for redox cycling. 62
25654270 2015
31
Yersinia enterocolitica Septicemia After Chitterling Ingestion in a Pediatric Patient With Iron Overload Disease: A Case Report. 62
27335968 2015
32
Hepcidin-induced hypoferremia is a critical host defense mechanism against the siderophilic bacterium Vibrio vulnificus. 62
25590758 2015
33
Iron clad: iron homeostasis and the diagnosis of hereditary iron overload. 62
25696856 2014
34
Iron, oxidative stress, and redox signaling in the cardiovascular system. 62
24888568 2014
35
Deletion of hemojuvelin, an iron-regulatory protein, in mice results in abnormal angiogenesis and vasculogenesis in retina along with reactive gliosis. 62
24812553 2014
36
The role of hepatic transferrin receptor 2 in the regulation of iron homeostasis in the body. 62
24639653 2014
37
[The effect of exogenous antioxidants on the antioxidant status of erythrocytes and hepcidin content in blood of patients with disorders of iron metabolism regulation]. 62
24511683 2013
38
[Iron quantification in iron overload disease using MRI]. 62
23450372 2013
39
[Hemochromatosis: one form of iron-overload diseases]. 62
23853349 2013
40
N-linked glycosylation is required for transferrin-induced stabilization of transferrin receptor 2, but not for transferrin binding or trafficking to the cell surface. 62
23556518 2013
41
Hereditary hemochromatosis. 62
23418762 2013
42
The iron chelator, deferasirox, as a novel strategy for cancer treatment: oral activity against human lung tumor xenografts and molecular mechanism of action. 62
23074173 2013
43
Absorption of manganese and iron in a mouse model of hemochromatosis. 62
23705020 2013
44
Effects of quercetin on hemoglobin-dependent redox reactions: relationship to iron-overload rat liver injury. 62
24215437 2013
45
Hereditary hemochromatosis and transferrin receptor 2. 62
21864651 2012
46
Screening for hereditary haemochromatosis. 62
22198253 2012
47
Iron chelators for the treatment of cancer. 62
22455580 2012
48
Polarized distribution of heme transporters in retinal pigment epithelium and their regulation in the iron-overload disease hemochromatosis. 62
22058337 2011
49
Conditional disruption of mouse HFE2 gene: maintenance of systemic iron homeostasis requires hepatic but not skeletal muscle hemojuvelin. 62
21748766 2011
50
Hepcidin and ferroportin: the new players in iron metabolism. 62
21901657 2011

Variations for Rare Hereditary Hemochromatosis

Expression for Rare Hereditary Hemochromatosis

Search GEO for disease gene expression data for Rare Hereditary Hemochromatosis.

Pathways for Rare Hereditary Hemochromatosis

GO Terms for Rare Hereditary Hemochromatosis

Sources for Rare Hereditary Hemochromatosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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