Rare Hereditary Hemochromatosis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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.

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Related Diseases for Rare Hereditary Hemochromatosis

Diseases in the Hfe Hemochromatosis family:

Hemochromatosis, Type 1	Hemochromatosis, Type 2a
Hemochromatosis, Type 3	Hemochromatosis, Type 4
Hemochromatosis, Type 2b	Hemochromatosis, Type 5
Hemochromatosis Type 2	Tfr2-Related Hereditary Hemochromatosis
Rare Hereditary Hemochromatosis

Diseases related to Rare Hereditary Hemochromatosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)

#	Related Disease	Score
1	hemochromatosis, type 1	11.1
2	hemochromatosis, type 3	11.1
3	hemochromatosis, type 4	11.1
4	hemochromatosis type 2	11.1
5	iron metabolism disease	10.5
6	beta-thalassemia	10.2
7	thalassemia	10.2
8	iron overload	10.2
9	gracile syndrome	10.1
10	hemosiderosis	10.1
11	lactic acidosis	10.1
12	aminoaciduria	10.1
13	friedreich ataxia	9.9
14	ceroid lipofuscinosis, neuronal, 5	9.9
15	abdominal obesity-metabolic syndrome 1	9.9
16	human cytomegalovirus infection	9.9
17	alcohol use disorder	9.9
18	hepatitis c	9.9
19	hypogonadism	9.9
20	hemoglobinopathy	9.9
21	liver cirrhosis	9.9
22	zellweger syndrome	9.9
23	viral infectious disease	9.9
24	pigmentation anomaly of the skin	9.9

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

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Symptoms & Phenotypes for Rare Hereditary Hemochromatosis

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Drugs & Therapeutics for Rare Hereditary Hemochromatosis

Search Clinical Trials, NIH Clinical Center for Rare Hereditary Hemochromatosis

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Genetic Tests for Rare Hereditary Hemochromatosis

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Anatomical Context for Rare Hereditary Hemochromatosis

Organs/tissues related to Rare Hereditary Hemochromatosis:

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

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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	Adel RM...Amer AS	34052583	2021
2	Network pharmacology-based identification of the key mechanism of quercetin acting on hemochromatosis. ⁶²	Ding H...Feng J	33960370	2021
3	Hfe Gene Knock-Out in a Mouse Model of Hereditary Hemochromatosis Affects Bodily Iron Isotope Compositions. ⁶²	Albalat E...Loreal O	34722560	2021
4	[Aceruloplasminemia, a rare condition not to be overlooked]. ⁶²	Lobbes H...Durupt S	32682623	2020
5	Strain Analysis Using Feature-Tracking CMR to Detect LV Systolic Dysfunction in Myocardial Iron Overload Disease. ⁶²	Tahir E...Schoennagel BP	32739373	2020
6	Hereditary hemochromatosis promotes colitis and colon cancer and causes bacterial dysbiosis in mice. ⁶²	Sivaprakasam S...Ganapathy V	32955078	2020
7	A Novel Star Like Eight-Arm Polyethylene Glycol-Deferoxamine Conjugate for Iron Overload Therapy. ⁶²	Yu B...Liu H	32272723	2020
8	Extrahepatic deficiency of transferrin receptor 2 is associated with increased erythropoiesis independent of iron overload. ⁶²	Wortham AM...Enns CA	32054685	2020
9	Chronic exposure to excess iron promotes EMT and cancer via p53 loss in pancreatic cancer. ⁶²	Bhutia YD...Ganapathy V	32373202	2020
10	HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case. ⁶²	Zhang W...Jia J	32153640	2020
11	Facile Access to Fe(III)-Complexing Cyclic Hydroxamic Acids in a Three-Component Format. ⁶²	Chupakhin E...Krasavin M	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	Chen C...Xu LX	31213851	2019
13	[Body iron accumulation in obesity, diabetes and its complications, and the possibility of therapeutic application by iron regulation]. ⁶²	Horinouchi Y...Tamaki T	31787683	2019
14	Quantification of liver iron overload disease with laser ablation inductively coupled plasma mass spectrometry. ⁶²	Kim P...Weiskirchen R	30514216	2018
15	Iron as a Therapeutic Target in HFE-Related Hemochromatosis: Usual and Novel Aspects. ⁶²	Loreal O...Brissot P	30486249	2018
16	Iron chelation inhibits cancer cell growth and modulates global histone methylation status in colorectal cancer. ⁶²	Cao LL...Jia M	29951879	2018
17	A novel, nontoxic iron chelator, super-polyphenol, effectively induces apoptosis in human cancer cell lines. ⁶²	Ohara T...Matsukawa A	30214682	2018
18	Cyclic Hydroxamic Acid Analogues of Bacterial Siderophores as Iron-Complexing Agents prepared through the Castagnoli-Cushman Reaction of Unprotected Oximes. ⁶²	Bakulina O...Krasavin M	29072340	2017
19	Expanding the Therapeutic Potential of the Iron Chelator Deferasirox in the Development of Aqueous Stable Ti(IV) Anticancer Complexes. ⁶²	Loza-Rosas SA...Tinoco AD	28644630	2017
20	[Expression and Significance of HIF-1α in Erythropoiesis of Secondary Iron Overload Disease after Irradiation Damage]. ⁶²	Xing Y...He XY	28641612	2017
21	Evaluation of iron chelating and antioxidant potential of Epilobium hirsutum for the management of iron overload disease. ⁶²	Sheikh NA...Tirgar PR	28320102	2017
22	Iron overload patients with unknown etiology from national survey in Japan. ⁶²	Ikuta K...Kohgo Y	27848180	2017
23	Left atrial active contractile function parameters assessed by cardiac MR are sensitive to myocardial iron. ⁶²	Wehbe MS...Schoennagel BP	27459111	2017
24	Hydroxypyridinone Chelators: From Iron Scavenging to Radiopharmaceuticals for PET Imaging with Gallium-68. ⁶²	Cusnir R...Ma MT	28075350	2017
25	Altered Erythropoiesis in Mouse Models of Type 3 Hemochromatosis. ⁶²	Pellegrino RM...Roetto A	28540293	2017
26	Investigation into Iron Chelating and Antioxidant Potential of Melilotus officinalis in Iron Dextran Induced Iron Overloaded Sprague Dawley Rat Model. ⁶²	Sheikh NA...Tirgar PR	27626608	2016
27	Melanin nanoparticles as an endogenous agent for efficient iron overload therapy. ⁶²	Yan J...Yang M	32263725	2016
28	Increased Retinal Expression of the Pro-Angiogenic Receptor GPR91 via BMP6 in a Mouse Model of Juvenile Hemochromatosis. ⁶²	Arjunan P...Ganapathy V	27046124	2016
29	HJV and HFE Play Distinct Roles in Regulating Hepcidin. ⁶²	Wu Q...Wang F	25608116	2015
30	Redox properties and activity of iron-citrate complexes: evidence for redox cycling. ⁶²	Adam FI...Koppenol WH	25654270	2015
31	Yersinia enterocolitica Septicemia After Chitterling Ingestion in a Pediatric Patient With Iron Overload Disease: A Case Report. ⁶²	Moon TD...Sheram ML	27335968	2015
32	Hepcidin-induced hypoferremia is a critical host defense mechanism against the siderophilic bacterium Vibrio vulnificus. ⁶²	Arezes J...Bulut Y	25590758	2015
33	Iron clad: iron homeostasis and the diagnosis of hereditary iron overload. ⁶²	Heeney MM	25696856	2014
34	Iron, oxidative stress, and redox signaling in the cardiovascular system. ⁶²	Gudjoncik A...Rochette L	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	Tawfik A...Ganapathy V	24812553	2014
36	The role of hepatic transferrin receptor 2 in the regulation of iron homeostasis in the body. ⁶²	Worthen CA...Enns CA	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	Shcherbinina SP...Ataullakhanov FI	24511683	2013
38	[Iron quantification in iron overload disease using MRI]. ⁶²	Schonnagel BP...Yamamura J	23450372	2013
39	[Hemochromatosis: one form of iron-overload diseases]. ⁶²	Szalay F	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	Zhao N...Enns CA	23556518	2013
41	Hereditary hemochromatosis. ⁶²	Crownover BK...Covey CJ	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	Lui GY...Richardson DR	23074173	2013
43	Absorption of manganese and iron in a mouse model of hemochromatosis. ⁶²	Kim J...Wessling-Resnick M	23705020	2013
44	Effects of quercetin on hemoglobin-dependent redox reactions: relationship to iron-overload rat liver injury. ⁶²	Lu NH...Peng YY	24215437	2013
45	Hereditary hemochromatosis and transferrin receptor 2. ⁶²	Chen J...Enns CA	21864651	2012
46	Screening for hereditary haemochromatosis. ⁶²	Nadakkavukaran IM...Olynyk JK	22198253	2012
47	Iron chelators for the treatment of cancer. ⁶²	Yu Y...Richardson DR	22455580	2012
48	Polarized distribution of heme transporters in retinal pigment epithelium and their regulation in the iron-overload disease hemochromatosis. ⁶²	Gnana-Prakasam JP...Ganapathy V	22058337	2011
49	Conditional disruption of mouse HFE2 gene: maintenance of systemic iron homeostasis requires hepatic but not skeletal muscle hemojuvelin. ⁶²	Gkouvatsos K...Pantopoulos K	21748766	2011
50	Hepcidin and ferroportin: the new players in iron metabolism. ⁶²	De Domenico I...Kaplan J	21901657	2011

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Genes for Rare Hereditary Hemochromatosis

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Variations for Rare Hereditary Hemochromatosis

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Expression for Rare Hereditary Hemochromatosis

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

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Pathways for Rare Hereditary Hemochromatosis

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GO Terms for Rare Hereditary Hemochromatosis

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Sources for Rare Hereditary Hemochromatosis

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MCID: RRH023 MIFTS: 20	Rare Hereditary Hemochromatosis Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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