MCID: HMC003
MIFTS: 74

Hemochromatosis malady

Genetic diseases, Rare diseases, Metabolic diseases, Liver diseases categories

Aliases & Classifications for Hemochromatosis

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Aliases & Descriptions for Hemochromatosis:

Name: Hemochromatosis 49 10 11 68 45 23 47 12 35 2 65 36
Hereditary Hemochromatosis 68 23 47 24 65 67
Iron Storage Disorder 10 68 23
Haemochromatosis 10 68 23
Hlah 68 23 67
Von Recklenhausen-Applebaum Disease 68 23
Troisier-Hanot-Chauffard Syndrome 68 23
Familial Hemochromatosis 68 23
Genetic Hemochromatosis 68 23
Primary Hemochromatosis 68 23
Hemochromatosis Type 1 45 67
Bronzed Cirrhosis 68 23
Bronze Diabetes 68 23
Hh 23 67
 
Primary Hereditary Hemochromatosis 67
Hfe Hemochromatosis, Modifier of 49
Hfe-Associated Hemochromatosis 68
Hereditary Haemochromatosis 23
Classic Hemochromatosis 45
Hemochromatosis Classic 45
Pigmentary Cirrhosis 23
Hemochromatosis 1 67
Bronze Cirrhosis 65
Hemochromatoses 68
Diabetes Bronze 10
Hfe1 67
Hc 23


Classifications:



External Ids:

OMIM49 235200
Disease Ontology10 DOID:2352
MeSH36 D006432
NCIt42 C84481
MedGen34 C0392514

Summaries for Hemochromatosis

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OMIM:49 Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess... (235200) more...

MalaCards based summary: Hemochromatosis, also known as hereditary hemochromatosis, is related to hemochromatosis, type 3 and hemochromatosis, type 4, and has symptoms including abnormality of iron homeostasis, gynecomastia and anterior hypopituitarism. An important gene associated with Hemochromatosis is HFE (Hemochromatosis), and among its related pathways are HIF-1-alpha transcription factor network and Signaling by BMP. The drug deferoxamine mesylate has been mentioned in the context of this disorder. Affiliated tissues include liver, heart and skin, and related mouse phenotypes are liver/biliary system and mortality/aging.

Disease Ontology:10 A metal metabolism disorder characterized by the accumulation of iron in various organs of the body.

NIH Rare Diseases:45 Hemochromatosis is a disease in which too much iron builds up in the body.  this extra iron is toxic to the body and can damage the organs. early symptoms of hemochromatosis are nonspecific and may include fatigue, joint pain, abdominal pain, and loss of sex drive. later signs and symptoms can include arthritis, liver disease, diabetes, heart abnormalities, and skin discoloration.hemochromatosis may be acquired or hereditary. hereditary hemochromatosis is classified by type depending on the age of onset and other factors such as genetic cause and mode of inheritance. to learn more about the specific types of hereditary hemochromatosis click on the disease names below: hemochromotosis type 1hemochromatosis type 2hemochromatosis type 3hemochromatosis type 4there is also a neonatal form of hemochromatosis:neonatal hemochromatosis last updated: 5/21/2012

MedlinePlus:35 Hemochromatosis is a disease in which too much iron builds up in your body. your body needs iron but too much of it is toxic. if you have hemochromatosis, you absorb more iron than you need. your body has no natural way to get rid of the extra iron. it stores it in body tissues, especially the liver, heart, and pancreas. the extra iron can damage your organs. without treatment, it can cause your organs to fail. there are two types of hemochromatosis. primary hemochromatosis is an inherited disease. secondary hemochromatosis is usually the result of something else, such as anemia, thalassemia, liver disease, or blood transfusions. many symptoms of hemochromatosis are similar to those of other diseases. not everyone has symptoms. if you do, you may have joint pain, fatigue, general weakness, weight loss, and stomach pain. your doctor will diagnose hemochromatosis based on your medical and family histories, a physical exam, and the results from tests and procedures. treatments include removing blood (and iron) from your body, medicines, and changes in your diet. nih: national heart, lung, and blood institute

CDC:2 Hemochromatosis (also called iron storage disease) occurs when the body absorbs too much iron. This disease causes extra iron to gradually build up in the body’s tissues and organs. If this iron buildup is not treated, it can damage the body’s organs.

Genetics Home Reference:23 Hereditary hemochromatosis is a disorder that causes the body to absorb too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the skin, heart, liver, pancreas, and joints. Because humans cannot increase the excretion of iron, excess iron can overload and eventually damage tissues and organs. For this reason, hereditary hemochromatosis is also called an iron overload disorder.

UniProtKB/Swiss-Prot:67 Hemochromatosis 1: A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.

Related Diseases for Hemochromatosis

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Diseases in the Hemochromatosis family:

Hemochromatosis, Type 2a Hemochromatosis, Type 4
Hemochromatosis, Type 3 Hemochromatosis, Type 5
Hemochromatosis, Type 2b Hemochromatosis Type 2
Juvenile Hereditary Hemochromatosis Tfr2-Related Hereditary Hemochromatosis
Slc40a1-Related Hereditary Hemochromatosis Hamp-Related Juvenile Hemochromatosis

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

(show top 50)    (show all 400)
idRelated DiseaseScoreTop Affiliating Genes
1hemochromatosis, type 331.5HFE, TFR2
2hemochromatosis, type 431.3SLC40A1, TFR2
3porphyria cutanea tarda30.8CYBRD1, HAMP, HFE, HLA-H, SLC40A1, TF
4thalassemia, hispanic gamma-delta-beta30.2HFE, TF, TFR2, TFRC
5neonatal hemochromatosis10.9
6hepatitis10.7
7porphyria10.6
8liver disease10.6
9thalassemia10.6
10hemosiderosis10.6
11hemochromatosis type 210.5
12hepatitis c10.5
13siderosis10.5
14iron metabolism disease10.5
15pigmentary cirrhosis10.5
16metal metabolism disorder10.5
17hemochromatosis, type 2a10.5
18hfe-associated hereditary hemochromatosis10.5
19metabolic syndrome x10.4
20hepatocellular carcinoma10.4
21haemochromatosis type 410.4
22hemochromatosis, type 2b10.4
23baraitser brett piesowicz syndrome10.4HFE, TF
24kat6b-related disorders10.4HAMP, HFE2
25arthritis10.3
26arthropathy10.3
27juvenile hereditary hemochromatosis10.3
28tfr2-related hereditary hemochromatosis10.3
29cardiomyopathy10.3
30myelodysplastic syndrome10.3
31hemochromatosis, type 510.3
32hereditary spherocytosis10.3
33duodenitis10.3
34hypogonadism10.3
35hypotrichosis 110.3
36non-syndromic intellectual disability10.3HFE, HFE2, TF, TFRC
37hepatitis c virus10.3
38sideroblastic anemia10.3
39methemoglobinemia beta-globin type10.3HAMP, HFE, HFE2, SLC40A1, TFR2
40hypogonadotropic hypogonadism 2 with or without anosmia10.2
41posterior cranial fossa meningioma10.2HFE, TF, UROD
42mite infestation10.2CP, HFE, TF
43obesity10.2
44aplastic anemia10.2
45celiac disease10.2
46galactosemia10.2
47deficiency anemia10.2
48leukemia10.2
49refractory anemia10.2
50pneumoconiosis due to talc10.2HFE, SLC40A1, TF, TFRC, UROD

Graphical network of the top 20 diseases related to Hemochromatosis:



Diseases related to hemochromatosis

Symptoms for Hemochromatosis

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Symptoms by clinical synopsis from OMIM:

235200

Clinical features from OMIM:

235200

HPO human phenotypes related to Hemochromatosis:

(show all 47)
id Description Frequency HPO Source Accession
1 abnormality of iron homeostasis hallmark (90%) HP:0011031
2 gynecomastia typical (50%) HP:0000771
3 anterior hypopituitarism typical (50%) HP:0000830
4 limitation of joint mobility typical (50%) HP:0001376
5 hepatic steatosis typical (50%) HP:0001397
6 hepatomegaly typical (50%) HP:0002240
7 arthralgia typical (50%) HP:0002829
8 erectile abnormalities typical (50%) HP:0100639
9 retinopathy occasional (7.5%) HP:0000488
10 diabetes mellitus occasional (7.5%) HP:0000819
11 cirrhosis occasional (7.5%) HP:0001394
12 ascites occasional (7.5%) HP:0001541
13 alopecia occasional (7.5%) HP:0001596
14 congestive heart failure occasional (7.5%) HP:0001635
15 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
16 exocrine pancreatic insufficiency occasional (7.5%) HP:0001738
17 splenomegaly occasional (7.5%) HP:0001744
18 vertigo occasional (7.5%) HP:0002321
19 neoplasm of the liver occasional (7.5%) HP:0002896
20 reduced bone mineral density occasional (7.5%) HP:0004349
21 peripheral neuropathy occasional (7.5%) HP:0009830
22 autosomal recessive inheritance HP:0000007
23 azoospermia HP:0000027
24 testicular atrophy HP:0000029
25 hypogonadotrophic hypogonadism HP:0000044
26 amenorrhea HP:0000141
27 impotence HP:0000802
28 diabetes mellitus HP:0000819
29 osteoporosis HP:0000939
30 hyperpigmentation of the skin HP:0000953
31 telangiectasia HP:0001009
32 cirrhosis HP:0001394
33 hepatocellular carcinoma HP:0001402
34 ascites HP:0001541
35 alopecia HP:0001596
36 congestive heart failure HP:0001635
37 cardiomyopathy HP:0001638
38 cardiomegaly HP:0001640
39 splenomegaly HP:0001744
40 abnormal glucose tolerance HP:0001952
41 pleural effusion HP:0002202
42 hepatomegaly HP:0002240
43 elevated hepatic transaminases HP:0002910
44 arthropathy HP:0003040
45 increased serum ferritin HP:0003281
46 increased serum iron HP:0003452
47 arrhythmia HP:0011675

Drugs & Therapeutics for Hemochromatosis

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Drugs for Hemochromatosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Deferasiroxapproved, investigationalPhase 4, Phase 3, Phase 1, Phase 283201530-41-85493381
Synonyms:
Deferasiroxum
Deferasiroxum [inn-latin]
 
Exjade
ICL 670
ICL 670a
deferasirox
2
DeferiproneapprovedPhase 4, Phase 3, Phase 2, Phase 14930652-11-02972
Synonyms:
1,2-Dimethyl-3-hydroxypyrid-4-one
3-Hydroxy-1,2-dimethyl-4(1H)-pyridone
APO-066
CP-20
DN-180-01-AF
Deferipron
 
Deferiprona
Deferiproni
Deferipronum
Deferypron
Dimethylhydroxypyridone
Défériprone
Ferriprox
PL-1
3
IronapprovedPhase 4, Phase 3, Phase 2, Phase 19577439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Dexiron
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
Ed-In-Sol
 
Eisen
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feraheme
Feronate
Ferretts
Ferrlecit
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Infufer
Iron
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Venofer
Vitedyn-Slo
Yieronia
fer
ferrous ascorbate
ferrous fumarate
ferrous gluconate
ferrous glycine sulfate
ferrous iron
ferrous succinate
ferrous sulfate
hierro
4
Deferoxamineapproved, investigationalPhase 4, Phase 3, Phase 24470-51-92973
Synonyms:
DF B
DFO
DFOA
DFOM
Deferoxamide B
Deferoxamin
Deferoxamina
Deferoxamine
Deferoxamine B
Deferoxamine Hydrochloride
 
Deferoxamine Mesylate
Deferoxamine mesylate
Deferoxaminum
Deferrioxamine
Deferrioxamine B
Deferrioxamine b
Desferal
Desferrioxamine
Desferrioxamine B
Déferoxamine
N-Benzoylferrioxamine B
5
Omeprazoleapproved, investigationalPhase 429973590-58-64594
Synonyms:
( -)-Omeprazole
(-)-Omeprazole
(S)-(-)-Omeprazole
(S)-Omeprazole
119141-89-8
131959-78-9
172964-80-6
2,3,5-Trimethylpyridine/Omeprazole
2-(((3,5-Dimethyl-4-methoxy-2-pyridyl)methyl)sulfinyl)-5-methoxy-1H-benzimidazole
2-({[3,5-dimethyl-4-(methyloxy)pyridin-2-yl]methyl}sulfinyl)-5-(methyloxy)-1H-benzimidazole
5-Methoxy-2-(((4-methoxy-3,5-dimethyl-2-pyridyl)methyl)sulfinyl)benzimidazole
5-Methoxy-2-[[(4-methoxy-3,5-dimethyl-2-pyridinyl)methyl]sulfinyl]-1H-benzimidazole
5-Methoxy-2[(4-methoxy-3,5-dimethyl-2-pyridyl)methylsulfinyl]-1H-benzimidazole
5-methoxy-2-{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl}-1H-benzimidazole
6-methoxy-2-[(4-methoxy-3,5-dimethylpyridin-2-yl)methylsulfinyl]-1H-benzimidazole
73590-58-6
AC-401
AC1L1IIJ
AGI-010
AKOS005066653
AULCER
Antra
Antra MUPS
Audazol
Aulcer
Axagon
BIDD:GT0189
BPBio1_000425
BRD-A55962179-001-04-9
BSPBio_000385
Being Well Omeprazole
Belmazol
Bio-0888
C07324
CAS-73590-58-6
CCRIS 7099
CHEBI:519601
CHEBI:7772
CHEMBL1503
CID4594
CPD000058847
Care One Omeprazole
Ceprandal
D00455
DB00338
DB00736
DM-3458
Danlox
Demeprazol
Desec
Dg Health Omeprazole
Dizprazol
Dudencer
Elgam
Emeproton
Emilok
Epirazole
Equaline Omeprazole
Equate Omeprazole Delayed Release acid reducer
Erbolin
Esomeprazole
Esomperazole
Esopral
Exchange Select Omeprazole
Exter
Family Wellness Omeprazole
Formu Care Omeprazole
Fulton Street Market Omeprazole
Gasec
Gastrimut
Gastroloc
Gibancer
Good Neighbor Pharmacy Omeprazole
Good Sense Omeprazole
H 168-68
H 168/68
H-168/68
H168/68
HMS1528I05
HMS1569D07
HMS2052G17
HMS2090E16
HMS2090F11
HSDB 3575
Harmon Face Values Omeprazole
Health Mart Omeprazole
Healthy Accents Omeprazole
I06-0705
IDI1_032523
Indurgan
Inhibitron
Inhipump
Kirkland Signature Omeprazole
LS-7629
Leader Omeprazole
Lensor
Logastric
Lomac
Losec
Losec, Omesec, Prilosec, Zegerid, Omeprazole
Lucen
MLS000069373
MLS001076112
MLS001424148
Maybridge4_002645
Members Mark Omeprazole
Mepral
Miol
Miracid
MolPort-003-666-741
MolPort-003-807-515
MolPort-003-849-702
Mopral
 
Morecon
NCGC00016925-01
NCGC00016925-02
NCGC00021522-03
NCGC00021522-04
NCGC00021522-05
Nexiam
Nexium
Nexium IV
Nilsec
Nopramin
Nuclosina
O0359
O104_SIGMA
OMEP
OMP
OMZ
Ocid
Olex
Olexin
Olit
Omapren
Omebeta
Omebeta 20
Omed
Omegast
Omepradex
Omepral
Omeprazol
Omeprazol [INN-Spanish]
Omeprazole
Omeprazole (JAN/USP/INN)
Omeprazole Delayed Release
Omeprazole Delayed-release
Omeprazole Magnesium
Omeprazole Pellets
Omeprazole [USAN:INN:BAN:JAN]
Omeprazole delayed-release
Omeprazole magnesium
Omeprazole sodium
Omeprazolum
Omeprazolum [INN-Latin]
Omeprazon
Omeprazone
Omeprol
Omesec
Omesek
Omez
Omezol
Omezolan
Omid
Omisec
Omizac
Ompanyt
Ortanol
Osiren
Ozoken
Paprazol
Parizac
Pepticum
Pepticus
Peptilcer
Prazentol
Prazidec
Prazolit
Preferred Plus Omeprazole
Prestwick0_000493
Prestwick1_000493
Prestwick2_000493
Prestwick3_000493
Prestwick_808
Prilosec
Prilosec (TN)
Prilosec OTC
Procelac
Proclor
Prysma
Quality Choice Omeprazole
Ramezol
Regulacid
Result
S1389_Selleck
SAM001246900
SAN-15
SMR000058847
SPBio_002306
STK623746
Sanamidol
Secrepina
Shoprite Omeprazole
Simply Right Omeprazole
Smart Sense Omeprazole
Sunmark Omeprazole
TL8005099
Tedec Ulceral
Topcare Omeprazole
UNII-KG60484QX9
UPCMLD-DP075
UPCMLD-DP075:001
Ulceral
Ulcesep
Ulcometion
Ulcozol
Ulcsep
Ulsen
Ultop
Ulzol
Victrix
Zefxon
Zegerid
Zepral
Zimor
Zoltum
esomeprazol
omeprazole
6
HydroxyureaapprovedPhase 3181127-07-13657
Synonyms:
1-HYDROXYUREA
127-07-1
4-03-00-00170 (Beilstein Handbook Reference)
55291_FLUKA
AC1L1GF8
AC1Q4ZXK
AI3-51139
BB_SC-7256
BRN 1741548
BSPBio_002164
Bio1_000451
Bio1_000940
Bio1_001429
Biosupressin
C07044
CCRIS 958
CHEBI:44423
CHEMBL467
CID3657
Carbamohydroxamic Acid
Carbamohydroxamic acid
Carbamohydroximic Acid
Carbamohydroximic acid
Carbamohydroxyamic Acid
Carbamohydroxyamic acid
Carbamoyl Oxime
Carbamoyl oxime
Carbamyl Hydroxamate
Carbamyl hydroxamate
Carrbamoyl Oxime
D00341
D006918
DB01005
DRG-0253
DivK1c_000556
Droxia
Droxia (TM)
Droxia (TN)
E0723DBA-5AF3-49D1-B5F6-59420AB87AC9
EINECS 204-821-7
EU-0100596
FT-0083575
H 8627
H0310
H20210
H8627_SIGMA
HMS1920F09
HMS2091L17
HMS501L18
HSDB 6887
HU
HYDREA (TN)
HYDROXY-UREA
Hidrix
Hidroxicarbamida
Hidroxicarbamida [INN-Spanish]
Hydrea
Hydrea (TM)
Hydrea, Biosupressin, Cytodrox, Hydroxyurea
Hydreia
Hydroxicarbamidum
Hydroxycarbamid
Hydroxycarbamide
Hydroxycarbamide (JAN/INN)
Hydroxycarbamidum
Hydroxycarbamidum [INN-Latin]
Hydroxycarbamine
Hydroxyharnstoff
Hydroxyharnstoff [German]
Hydroxylurea
Hydroxyurea
Hydroxyurea (D4)
Hydroxyurea (USP)
Hydroxyurea [USAN:BAN]
Hydroxyurea(d4)
 
Hydura
Hydurea
I05-0250
IDI1_000556
Idrossicarbamide
Idrossicarbamide [DCIT]
Idrossicarbamide [Dcit]
KBio1_000556
KBio2_001389
KBio2_003957
KBio2_006525
KBio3_001384
KBioGR_000383
KBioSS_001389
LS-709
Litaler
Litalir
Lopac-H-8627
Lopac0_000596
MLS001332381
MLS001332382
MLS002153389
MolMap_000029
MolPort-000-003-971
Mylocel
N-(Aminocarbonyl) Hydroxyamine
N-Carbamoylhydroxylamine
N-HYDROXY UREA
N-Hydroxymocovina
N-Hydroxymocovina [Czech]
N-Hydroxyurea
NCGC00015520-01
NCGC00015520-02
NCGC00015520-07
NCGC00093974-01
NCGC00093974-02
NCGC00093974-03
NCGC00093974-04
NCGC00093974-05
NCI C04831
NCI-C04831
NCI60_002773
NCIMech_000139
NHY
NINDS_000556
NSC 32065
NSC32065
Onco-Carbide
Onco-carbide
Oncocarbide
Oxyurea
S-phase/G-1 interface inhibitor
S1896_Selleck
SK 22591
SMR000059149
SPBio_000247
SPECTRUM1500344
SQ 1089
SQ-1089
Siklos
Spectrum2_000064
Spectrum3_000462
Spectrum4_000012
Spectrum5_000836
Spectrum_000909
Sterile Urea
TL8000673
UNII-X6Q56QN5QC
Ureaphil
WLN: ZVMQ
carbamide oxide
hydroxyaminomethanamide
hydroxyurea
nchembio.573-comp3
nchembio.90-comp4
nchembio749-comp3
tetratogen: inhibits ribonucleoside diphosphate reductase
7Phase 3
8HepcidinsPhase 242
9
NifedipineapprovedPhase 110421829-25-44485
Synonyms:
101539-70-2
101554-38-5
21829-25-4
4-(2'-Nitrophenyl)-2,6-dimethyl-1,4-dihydropyridin-3,5-dicarbonsaeuredimethylester
5-22-04-00268 (Beilstein Handbook Reference)
60299-11-8 (mono-hydrochloride)
AC-11618
AC1L1I9V
AC1Q4254
AKOS002942507
ARONIS24171
AWD Pharma Brand of Nifedipine
Adalat
Adalat (TN)
Adalat 10
Adalat 20
Adalat 5
Adalat CC
Adalat CR
Adalat Cc
Adalat Crono
Adalat FT
Adalat Ft
Adalat GITS
Adalat GITS 30
Adalat Gits
Adalat Gits 30
Adalat LA
Adalat LP
Adalat Oros
Adalat PA
Adalat Retard
Adalat XL
Adalate
Adalate LP
Adapine
Adapress
Adcock Ingram Brand of Nifedipine
Adipine XL
Afeditab
Afeditab CR
Afeditab CR (TN)
Alat
Aldipin
Alfadal
Alonix
Alonix S
Alpha-Nifedipine Retard
Angipec
Anifed
Anpine
Apo-Nifed
Aprical
Aprical long
BAY 1040
BAY A 1040
BAY-a 1040
BAYa1040
BCBcMAP01_000046
BIDD:GT0442
BIDD:PXR0034
BIM-0050796.0001
BPBio1_000271
BRN 0497773
BSPBio_000245
BSPBio_001391
BSPBio_002071
Bay-1040
Bay-a-1040
Bay1040
Bayer Brand of Nifedipine
Bio-0733
Bio1_000112
Bio1_000601
Bio1_001090
Bio2_000111
Bio2_000591
Bonacid
C07266
C17H18N2O6
CAS-21829-25-4
CBiol_001826
CCRIS 6074
CHEBI:7565
CHEMBL193
CID4485
CPD000058291
Calcibloc
Calcigard
Calcilat
Camont
Cardifen
Cardilat
Cardionorm
Chronadalate
Chronadalate LP
Chronadalate Lp
Citilat
Coracten
Coracten XL
Coral
Cordafen
Cordaflex
Cordalat
Cordicant
Cordilan
Cordipin
Cordipine
Corinfar
Corotrend
Corynphar
D00437
D009543
DB01115
Depin
Dignokonstant
Dilafed
Dilcor
Dipinkor
DivK1c_000313
Duranifin
EINECS 244-598-3
EU-0100819
Ecodipi
Ecodipin
Ecodipin E
Emaberin
Fedcor
Fedcor Retard
Fenamon
Fenamon SR
Fenamon Sr
Fenigidin
Fenihidin
Fenihidine
Fortipine LA
Glopir
HMS1361F13
HMS1568M07
HMS1791F13
HMS1920P19
HMS1989F13
HMS2051O03
HMS2089H11
HMS2091H20
HMS500P15
Hadipin
 
Hexadilat
I06-0051
I06-1286
IDI1_000313
IDI1_033861
Infedipin
Introcar
KB-1712P
KBio1_000313
KBio2_000111
KBio2_001459
KBio2_002400
KBio2_002679
KBio2_004027
KBio2_004968
KBio2_005247
KBio2_006595
KBio2_007536
KBio3_000221
KBio3_000222
KBio3_001571
KBio3_002879
KBioGR_000111
KBioGR_000627
KBioGR_002400
KBioSS_000111
KBioSS_001459
KBioSS_002405
KRKA Brand of Nifedipine
Kordafen
Korinfar
L001054
LS-1012
Lopac-N-7634
Lopac0_000819
MLS000028521
MLS000758222
MLS001148146
MLS001401371
Macorel
Megalat
MolPort-000-787-707
MolPort-006-822-492
Monohydrochloride, Nifedipine
Myogard
N 7634
N0528
N1fedilat
N7634_SIGMA
NCGC00015748-01
NCGC00015748-02
NCGC00015748-03
NCGC00015748-06
NCGC00015748-13
NCGC00024983-01
NCGC00024983-02
NCGC00024983-03
NCGC00024983-04
NCGC00024983-05
NCGC00024983-06
NCGC00024983-07
NCGC00024983-08
NCGC00091707-01
NINDS_000313
Nedipin
Nicardia
Nifangin
Nifar
Nifdemin
Nifebene
Nifecard
Nifecor
Nifedepat
Nifediac
Nifediac Cc
Nifedical
Nifedical XL
Nifedicalxl XL
Nifedicor
Nifedin
Nifedine
Nifedipine
Nifedipine (JP15/USP/INN)
Nifedipine Bayer Brand
Nifedipine ER
Nifedipine Extended Release
Nifedipine Extended-Release
Nifedipine GTIS
Nifedipine KRKA Brand
Nifedipine Monohydrochloride
Nifedipine Orion Brand
Nifedipine Pfizer Brand
Nifedipine Retard
Nifedipine [USAN:BAN:INN:JAN]
Nifedipine-GTIS
Nifedipino
Nifedipino [INN-Spanish]
Nifedipinum
Nifedipinum [INN-Latin]
Nifedipres
Nifedirex LP
Nifelan
Nifelat
Nifelat Q
Nifelate
Nifensar XL
Nificard
Nifidine
Nifipen
Niphedipine
Oprea1_788617
Orion Brand of Nifedipine
Orix
Oxcord
Pfizer Brand of Nifedipine
Pidilat
Prestwick0_000063
Prestwick1_000063
Prestwick2_000063
Prestwick3_000063
Prestwick_357
Procardia
Procardia (TN)
Procardia XL
S1808_Selleck
SAM001246963
SMR000058291
SPBio_001016
SPBio_002166
SPECTRUM1500431
STK735567
Sepamit
Slofedipine XL
Spectrum2_001058
Spectrum3_000516
Spectrum4_000074
Spectrum5_001278
Spectrum_000979
Tensipine MR
Tibricol
Tocris-1075
UNII-I9ZF7L6G2L
Vascard
ZINC19594578
Zenusin
cMAP_000042
nchembio.95-comp13
nifedipine
10Calcium, DietaryPhase 13529
11
Pantoprazoleapproved160102625-70-74679
Synonyms:
102625-70-7
5-(Difluoromethoxy)-2-(((3,4-dimethoxy-2-pyridyl)methyl)sulfinyl)benzimidazole
5-(difluoromethoxy)-2-{[(3,4-dimethoxypyridin-2-yl)methyl]sulfinyl}-1H-benzimidazole
6-(difluoromethoxy)-2-[(3,4-dimethoxypyridin-2-yl)methylsulfinyl]-1H-benzimidazole
AC-679
AC1L1IPJ
Astropan
BIDD:GT0003
BRD-A22380646-001-01-5
BSPBio_002320
BY 1023
BY-1023
C11806
C16H15F2N3O4S
CHEBI:519598
CHEBI:7915
CHEMBL1502
CID4679
D05353
DB00213
HMS1922H20
HMS2090H03
HMS2093F14
HSDB 7292
I06-0068
LS-32883
MolPort-003-666-752
MolPort-005-933-577
NCGC00095188-01
NCGC00095188-02
NCGC00095188-03
 
Pantoloc
Pantopan
Pantoprazol
Pantoprazol [INN-Spanish]
Pantoprazole
Pantoprazole (USAN/INN)
Pantoprazole Magnesium
Pantoprazole Na
Pantoprazole Sodium
Pantoprazole Sodium Hydrate
Pantoprazole [USAN:BAN:INN]
Pantoprazole sodium
Pantoprazolum
Pantoprazolum [INN-Latin]
Pantoprozole
Pantor
Pantozol
Protium
Protonix
Protonix I.V.
Protonix IV
SBB070993
SK&F 96022
SK&F-96022
SK-96022
SKF-96022
SPECTRUM1505818
Somac
TL8000127
Tecta
UNII-D8TST4O562
pantoprazole
12Iron SupplementNutraceutical153

Interventional clinical trials:

(show all 47)
idNameStatusNCT IDPhase
1Pilot Study for Patients With Poor Response to DeferasiroxCompletedNCT00749515Phase 4
2Efficacy Study of the Use of Sequential DFP-DFO Versus DFPCompletedNCT00733811Phase 4
3Evaluation of the Efficacy in Decreasing Iron Absorption in Patients With Congenital Dyserythropoietic Anemia Type I by Treatment With LOSECNot yet recruitingNCT01795794Phase 4
4Haemochromatosis:Phlebotomy Versus Erythrocytapheresis TherapyCompletedNCT00202436Phase 3
5Clinical Management of Hereditary Hemochromatosis: Phlebotomy vs. ErythrocytoapheresisCompletedNCT00440986Phase 2, Phase 3
6Study With Deferiprone and/or Desferrioxamine in Iron Overloaded PatientsCompletedNCT00350662Phase 3
7Screening of Hepatocellular Carcinoma in Patients With Compensated CirrhosisCompletedNCT00190385Phase 3
8Efficacy and Safety of the Iron Chelator Deferiprone in Parkinson's DiseaseCompletedNCT00943748Phase 2, Phase 3
9Clinical Importance of Treating Iron Overload in Sickle Cell DiseaseRecruitingNCT00981370Phase 3
10Erythrocytapheresis Versus Phlebotomy as Maintenance Therapy in Hereditary Hemochromatosis (HH) PatientsActive, not recruitingNCT01398644Phase 3
11Stroke With Transfusions Changing to HydroxyureaTerminatedNCT00122980Phase 3
12Safety and Efficacy of Deferasirox (ICL670) in Patients With Iron Overload Resulting From Hereditary HemochromatosisCompletedNCT00395629Phase 1, Phase 2
13Evaluation of Subcutaneous Desferrioxamine as Treatment for Transfusional HemochromatosisCompletedNCT00000595Phase 2
14Study Using Deferiprone Alone or in Combination With Desferrioxamine in Iron Overloaded Transfusion-dependent PatientsCompletedNCT00349453Phase 2
15Treatment of Iron Overload With Deferasirox (Exjade) in Hereditary Hemochromatosis and Myelodysplastic SyndromeRecruitingNCT01892644Phase 2
16Treatment of Refractory Hemochromatosis Rheumatism by Anakinra: a Preliminary Phase II StudyRecruitingNCT02263638Phase 2
17Analysis of the Modulation of Serum Hepcidin Level in Response to Iron Oral Intake: Potential Interest for the Differential Diagnosis Between Ferroportin Disease and Dysmetabolic Hepatosiderosis.RecruitingNCT01949467Phase 2
18High-Tc Susceptometer to Monitor Transfusional Iron OverloadRecruitingNCT01241357Phase 2
19Oral Nifedipine to Treat Iron OverloadCompletedNCT00712738Phase 1
20HEPFER-Evaluation of a New Phenotypic Biological Marker in Genetic Type 1 HemochromatosisCompletedNCT01784939
21Bone Status on Patients With Genetic Hemochromatosis: a 3 Years Descriptive and Evolutionary StudyCompletedNCT01556360
22Deferoxamine for the Treatment of HemochromatosisCompletedNCT00001203
23Hemochromatosis--Genetic Prevalence and PenetranceCompletedNCT00006312
24Evaluation of a New MR Pulse Sequence to Quantify Liver Iron ConcentrationCompletedNCT00587535
25Hemochromatosis and Iron Overload Screening Study (HEIRS)CompletedNCT00005541
26Statistical Basis for Hemochromatosis ScreeningCompletedNCT00005559
27Iron Overload in African AmericansCompletedNCT00001455
28Risk Factors of Porphyria Cutanea Tarda (PCT)CompletedNCT00213772
29Iron Overload in Stem Cell Transplant RecipientsCompletedNCT00806715
30Study of the Pathogenesis of Porphyria Cutanea TardaCompletedNCT00005103
31Iron Supplement Effect on Child DevelopmentCompletedNCT02690675
32Estimation of Myocardial Iron Overload by 3 Tesla MRI in HFE Hereditary HaemochromatosisRecruitingNCT02099214
33Treatment of HemochromatosisRecruitingNCT00007150
34Erythrocyte Apheresis Versus Phlebotomy in HemochromatosisRecruitingNCT00509652
35Impact of Bloodletting on Iron Metabolism in Type 1 HemochromatosisRecruitingNCT01810965
36Mi-iron - Moderately Increased Iron - is Reducing Iron Overload Necessary?RecruitingNCT01631708
37Evaluation of Patients With Liver DiseaseRecruitingNCT00001971
38Research Network for Neonatal Diseases Induced by Tissular Fetomaternal AlloimmunizationRecruitingNCT00199628
39Confounder-Corrected Quantitative MRI Biomarker of Hepatic Iron ContentRecruitingNCT02025543
40Impact of Host Iron Status and Iron Supplement Use on Erythrocytic Stage of Plasmodium FalciparumRecruitingNCT01027663
41Liver Fibrosis in Sickle Cell DiseaseRecruitingNCT02007746
42Massive Iron Deposit AssessmentRecruitingNCT01572922
43Cardiac Function in Patients With Hereditary HemochromatosisActive, not recruitingNCT00068159
44Genes Influencing Iron Overload StateActive, not recruitingNCT01158794
45Non Invasive Measurements of Fibrosis, Inflammation and Steatohepatitis in Morbidly Obese PatientsActive, not recruitingNCT01695083
46Implications for Quality of Life and Quality of Care in Patients With Hereditary HaemochromatosisNot yet recruitingNCT01991925
47Proton Pump Inhibitors in the Prevention of Iron Reaccumulation in Patient With Hereditary HemochromatosisNot yet recruitingNCT01524757

Search NIH Clinical Center for Hemochromatosis

Inferred drug relations via UMLS65/NDF-RT43:


Cochrane evidence based reviews: Hemochromatosis

Genetic Tests for Hemochromatosis

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Genetic tests related to Hemochromatosis:

id Genetic test Affiliating Genes
1 Hereditary Hemochromatosis24

Anatomical Context for Hemochromatosis

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MalaCards organs/tissues related to Hemochromatosis:

33
Liver, Heart, Skin, Testes, Pancreas, Lung, Bone

Animal Models for Hemochromatosis or affiliated genes

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MGI Mouse Phenotypes related to Hemochromatosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.0B2M, CP, CYBRD1, HEPH, HFE, HFE2
2MP:00107688.7ACO1, B2M, BMP2, HAMP, HFE, HFE2
3MP:00053978.4B2M, CP, HAMP, HEPH, HFE, HFE2
4MP:00053878.3B2M, CP, HAMP, HEPH, HFE, HFE2
5MP:00053768.1ACO1, B2M, BMP2, CP, CYBRD1, HAMP

Publications for Hemochromatosis

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Articles related to Hemochromatosis:

(show top 50)    (show all 1219)
idTitleAuthorsYear
1
Re: PC Adams. Genetic testing for hemochromatosis: Diagnostic or confirmatory test for iron overload? Can J Gastroenterol Hepatol 2015;29(1):15-6. (25855881)
2015
2
Increased height in HFE hemochromatosis. (23964954)
2013
3
Intrahepatic cholangiocarcinoma: impact of genetic hemochromatosis on outcome and overall survival after surgical resection. (23183056)
2013
4
Paraoxonase-1 status in patients with hereditary hemochromatosis. (23471031)
2013
5
Inhibition of I^2-microglobulin/hemochromatosis enhances radiation sensitivity by induction of iron overload in prostate cancer cells. (23874600)
2013
6
Sample-to-SNP kit: a reliable, easy and fast tool for the detection of HFE p.H63D and p.C282Y variations associated to hereditary hemochromatosis. (22735619)
2012
7
Is the role of liver biopsy changing in hemochromatosis? A non invasive approach is ready. (23012679)
2012
8
Case 179: Hereditary hemochromatosis. (22357904)
2012
9
Hemochromatosis and ovarian cancer. (21879820)
2011
10
Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia. (20007136)
2010
11
HFE Cys282Tyr homozygotes with serum ferritin concentrations below 1000 microg/L are at low risk of hemochromatosis. (20583211)
2010
12
Successful allogeneic bone marrow transplantation for diamond-blackfan anemia complicated by severe cardiac dysfunction due to transfusion-induced hemochromatosis. (20190482)
2010
13
Hepatic failure, neonatal hemochromatosis and porto-pulmonary hypertension in a newborn with trisomy 21--a case report. (20482801)
2010
14
All patients with 'idiopathic' hypopituitarism should be screened for hemochromatosis. (18270843)
2009
15
Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes. (18762941)
2009
16
HFE C282Y homozygosity is associated with lower total and low-density lipoprotein cholesterol: The hemochromatosis and iron overload screening study. (20031565)
2009
17
Frequency of the S65C mutation in the hemochromatosis gene in Brazil. (19681031)
2009
18
Outcome of liver transplantation in hereditary hemochromatosis. (19490544)
2009
19
Novel aspects of pathogenesis of hereditary hemochromatosis]. (18634255)
2008
20
Bivariate mixture modeling of transferrin saturation and serum ferritin concentration in Asians, African Americans, Hispanics, and whites in the Hemochromatosis and Iron Overload Screening (HEIRS) Study. (18201677)
2008
21
Liver and iron metabolism--a comprehensive hypothesis for the pathogenesis of genetic hemochromatosis. (17236123)
2007
22
Pathophysiology and genetics of classic HFE (type 1) hemochromatosis]. (17521857)
2007
23
A novel homozygous frameshift deletion c.471del of HFE associated with hemochromatosis. (17470136)
2007
24
Hemochromatosis genotypes and risk of 31 disease endpoints: meta-analyses including 66,000 cases and 226,000 controls. (17828789)
2007
25
Initial screening transferrin saturation values, serum ferritin concentrations, and HFE genotypes in Native Americans and whites in the Hemochromatosis and Iron Overload Screening Study. (16451136)
2006
26
Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients]. (17137171)
2006
27
Current approaches to the management of hemochromatosis. (17124037)
2006
28
Soluble transferrin receptor in hemochromatosis patients during phlebotomy therapy. (15698591)
2005
29
A mouse model of juvenile hemochromatosis. (16075059)
2005
30
Frequency of HFE mutations among Turkish blood donors according to transferrin saturation: genotype screening for hereditary hemochromatosis among voluntary blood donors in Turkey. (15319650)
2004
31
Mechanisms of disease: The role of hepcidin in iron homeostasis--implications for hemochromatosis and other disorders. (16265043)
2004
32
Co-localization of the mammalian hemochromatosis gene product (HFE) and a newly identified transferrin receptor (TfR2) in intestinal tissue and cells. (12704209)
2003
33
Population screening for hemochromatosis: a study in 5370 Spanish blood donors. (12763366)
2003
34
The hemochromatosis N144H mutation of SLC11A3 gene in patients with type 2 diabetes. (11914044)
2002
35
A prospective study of coronary heart disease and the hemochromatosis gene (HFE) C282Y mutation: the Atherosclerosis Risk in Communities (ARIC) study. (11257277)
2001
36
Hemochromatosis gene variants in three different ethnic populations: effects of admixture for screening programs. (11332643)
2001
37
Hemochromatosis caused by mutations in the iron-regulatory proteins ferroportin and H ferritin. (11774199)
2001
38
Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. (11518736)
2001
39
Hemochromatosis mutations C282Y and H63D in 'cis' phase. (11531973)
2001
40
A rare case of a patient heterozygous for the hemochromatosis mutation C282Y and homozygous for H63D. (11783952)
2001
41
Mutation analysis of the HFE gene in German hemochromatosis patients and controls using automated SSCP-based capillary electrophoresis and a new PCR-ELISA technique. (11686223)
2001
42
Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda. (10688809)
2000
43
Asymptomatic hemochromatosis subjects: genotypic and phenotypic profiles. (11090050)
2000
44
Are the hemochromatosis (HFE) gene mutation and hepatitis C virus (HCV) infection risk factors for porphyria cutanea tarda?]. (11037612)
2000
45
Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. (9546397)
1998
46
Major histocompatibility complex class I associations in iron overload: evidence for a new link between the HFE H63D mutation, HLA-A29, and non-classical forms of hemochromatosis. (9510559)
1998
47
Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal. (9211748)
1997
48
Outcome of liver transplantation in patients with hemochromatosis. (8045502)
1994
49
Association between heterozygous alpha 1-antitrypsin deficiency and genetic hemochromatosis. (8359811)
1993
50
Hemosiderosis and hemochromatosis in renal transplant recipients. Clinical and pathological features, diagnostic correlations, predisposing factors, and treatment. (3909817)
1985

Variations for Hemochromatosis

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UniProtKB/Swiss-Prot genetic disease variations for Hemochromatosis:

67 (show all 12)
id Symbol AA change Variation ID SNP ID
1HFEp.Ser65CysVAR_004397rs1800730
2HFEp.Cys282TyrVAR_004398rs1800562
3HFEp.Gln127HisVAR_008113rs28934595
4HFEp.Arg330MetVAR_008114
5HFEp.Gly93ArgVAR_008729rs28934597
6HFEp.Ile105ThrVAR_008730rs28934596
7HFEp.Gln283ProVAR_037304
8HFEp.Arg6SerVAR_042506
9HFEp.Gly43AspVAR_042507
10HFEp.Arg66CysVAR_042508
11HFEp.Arg224GlyVAR_042510
12HFEp.Val295AlaVAR_042511rs143175221

Clinvar genetic disease variations for Hemochromatosis:

5 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1HFENM_000410.3(HFE): c.187C> G (p.His63Asp)single nucleotide variantLikely pathogenic, Pathogenic, confers sensitivity, risk factorrs1799945GRCh37Chr 6, 26091179: 26091179
2HFENM_000410.3(HFE): c.193A> T (p.Ser65Cys)single nucleotide variantPathogenic, risk factorrs1800730GRCh37Chr 6, 26091185: 26091185
3HFENM_000410.3(HFE): c.314T> C (p.Ile105Thr)single nucleotide variantPathogenicrs28934596GRCh37Chr 6, 26091306: 26091306
4HFENM_000410.3(HFE): c.277G> C (p.Gly93Arg)single nucleotide variantPathogenicrs28934597GRCh37Chr 6, 26091269: 26091269
5HFENM_000410.3(HFE): c.381A> C (p.Gln127His)single nucleotide variantPathogenicrs28934595GRCh37Chr 6, 26091582: 26091582
6HFENM_000410.3(HFE): c.989G> T (p.Arg330Met)single nucleotide variantPathogenicrs111033558GRCh37Chr 6, 26093443: 26093443
7HAMPNM_021175.3(HAMP): c.216C> A (p.Cys72Ter)single nucleotide variantPathogenicrs763369315GRCh38Chr 19, 35285003: 35285003
8TFR2NM_003227.3(TFR2): c.2033G> C (p.Arg678Pro)single nucleotide variantLikely pathogenicrs786204108GRCh37Chr 7, 100224489: 100224489
9HFENM_000410.3(HFE): c.848A> C (p.Gln283Pro)single nucleotide variantPathogenicrs111033563GRCh37Chr 6, 26093144: 26093144
10HFENM_000410.3(HFE): c.506G> A (p.Trp169Ter)single nucleotide variantPathogenicrs797045145GRCh37Chr 6, 26091707: 26091707
11HAMPNM_021175.3(HAMP): c.92C> T (p.Thr31Met)single nucleotide variantPathogenicrs146776859GRCh37Chr 19, 35775693: 35775693
12HFE2NM_213653.3(HFE2): c.959G> T (p.Gly320Val)single nucleotide variantPathogenicrs74315323GRCh37Chr 1, 145416614: 145416614
13HFE2NM_213653.3(HFE2): c.963C> A (p.Cys321Ter)single nucleotide variantPathogenicrs121434374GRCh37Chr 1, 145416618: 145416618
14HFENM_000410.3(HFE): c.502G> T (p.Glu168Ter)single nucleotide variantPathogenicrs146519482GRCh38Chr 6, 26091475: 26091475
15HFENM_000410.3(HFE): c.845G> A (p.Cys282Tyr)single nucleotide variantPathogenic, confers sensitivity, risk factorrs1800562GRCh37Chr 6, 26093141: 26093141

Expression for genes affiliated with Hemochromatosis

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Search GEO for disease gene expression data for Hemochromatosis.

Pathways for genes affiliated with Hemochromatosis

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Pathways related to Hemochromatosis according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0CP, TF, TFRC
2
Show member pathways
10.0BMP2, HFE2, UBE2D1
3
Show member pathways
9.8CP, HEPH, SLC11A2, SLC40A1
49.5CYBRD1, FTL, HEPH, SLC11A2, SLC40A1, TF
59.4ACO1, HAMP, SLC11A2, SLC40A1, TF, TFR2
6
Show member pathways
9.1CP, CYBRD1, FTL, HEPH, SLC11A2, SLC40A1
7
Show member pathways
9.1CP, CYBRD1, FTL, HEPH, SLC11A2, SLC40A1

GO Terms for genes affiliated with Hemochromatosis

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Cellular components related to Hemochromatosis according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1BMP receptor complexGO:007072410.9BMP2, HFE2
2basal part of cellGO:004517810.7HFE, SLC11A2, TF
3recycling endosomeGO:005503710.4HFE, SLC11A2, TF, TFRC
4external side of plasma membraneGO:000989710.4B2M, HFE, TFR2, TFRC
5MHC class I protein complexGO:004261210.4B2M, HFE, HLA-B, HLA-H, MR1
6HFE-transferrin receptor complexGO:199071210.3B2M, HFE, HFE2, TF, TFR2, TFRC
7cellGO:000562310.2CP, FTL, HAMP, HFE
8basolateral plasma membraneGO:001632310.2HEPH, HFE2, SLC40A1, TFRC
9perinuclear region of cytoplasmGO:004847110.2HEPH, HFE, SLC11A2, TF, TFRC
10integral component of plasma membraneGO:00058879.7HFE, HLA-B, HLA-H, SLC11A2, SLC40A1, TFR2
11extracellular spaceGO:00056159.3B2M, BMP2, CP, HAMP, HFE, HFE2
12cell surfaceGO:00099869.1BMP2, HFE2, HLA-B, HLA-H, SLC11A2, TF
13plasma membraneGO:00058868.6B2M, CYBRD1, HEPH, HFE, HFE2, HLA-B

Biological processes related to Hemochromatosis according to GeneCards Suite gene sharing:

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of ferrous iron import into cellGO:190399110.9B2M, HFE
2positive regulation of ferrous iron bindingGO:190443410.9B2M, HFE
3positive regulation of transferrin receptor bindingGO:190443710.9B2M, HFE
4iron ion transmembrane transportGO:003475510.8SLC11A2, SLC40A1
5positive regulation of receptor bindingGO:190012210.8B2M, HFE
6positive regulation of peptide hormone secretionGO:009027710.8HFE, TFR2
7negative regulation of receptor bindingGO:190012110.8B2M, HFE
8ferrous iron import into cellGO:009746010.8TF, TFR2
9response to manganese ionGO:001004210.7SLC11A2, TFRC
10antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independentGO:000248010.7B2M, HLA-B
11positive regulation of T cell mediated cytotoxicityGO:000191610.7B2M, HLA-B
12multicellular organismal iron ion homeostasisGO:006058610.5HAMP, HFE, SLC11A2, SLC40A1
13positive regulation of receptor-mediated endocytosisGO:004826010.5B2M, HFE, TF
14porphyrin-containing compound biosynthetic processGO:000677910.5SLC11A2, UROD
15heme biosynthetic processGO:000678310.5SLC11A2, UROD
16transferrin transportGO:003357210.4SLC11A2, TF, TFR2, TFRC
17positive regulation of protein bindingGO:003209210.4B2M, BMP2, HFE
18antigen processing and presentationGO:001988210.4HFE, HLA-B, MR1
19porphyrin-containing compound metabolic processGO:000677810.4SLC11A2, UROD
20copper ion transportGO:000682510.3CP, HEPH, SLC11A2
21cellular response to iron ionGO:007128110.3B2M, HFE, SLC11A2, TF, TFR2
22iron ion transportGO:000682610.1FTL, HEPH, SLC11A2, SLC40A1, TF, TFR2
23BMP signaling pathwayGO:00305099.9BMP2, HFE, HFE2, UBE2D1
24iron ion homeostasisGO:00550729.9B2M, FTL, HAMP, HFE, HFE2, SLC40A1
25antigen processing and presentation of peptide antigen via MHC class IGO:00024749.8B2M, HFE, HLA-B, HLA-H, MR1
26response to iron ionGO:00100399.5CYBRD1, HAMP, HFE, SLC11A2, TFR2, TFRC
27immune responseGO:00069559.2B2M, HAMP, HFE, HLA-B, HLA-H, MR1
28transmembrane transportGO:00550859.1CP, CYBRD1, FTL, HEPH, SLC11A2, SLC40A1
29cellular iron ion homeostasisGO:00068798.6ACO1, CP, CYBRD1, FTL, HAMP, HEPH

Molecular functions related to Hemochromatosis according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1transferrin transmembrane transporter activityGO:003357010.8SLC11A2, TFRC
2iron ion transmembrane transporter activityGO:000538110.8SLC11A2, SLC40A1
3ferrous iron transmembrane transporter activityGO:001509310.8SLC11A2, SLC40A1
4transferrin receptor activityGO:000499810.7TFR2, TFRC
5beta-2-microglobulin bindingGO:003088110.7HFE, HLA-H
6ferric iron bindingGO:000819910.6FTL, TF
7co-receptor bindingGO:003970610.6BMP2, HFE, TFR2
8transferrin receptor bindingGO:199045910.5HFE, HFE2, TF
9ferroxidase activityGO:000432210.5CP, HEPH
10ferrous iron bindingGO:000819810.4HEPH, TF, UROD
11glycoprotein bindingGO:000194810.3B2M, HFE2, TFR2, TFRC
12copper ion bindingGO:000550710.1CP, HAMP, HEPH, SLC11A2
13peptide antigen bindingGO:004260510.0HFE, HLA-B, HLA-H, MR1
14receptor bindingGO:00051029.8BMP2, HAMP, HFE, HFE2, HLA-B
15chaperone bindingGO:00510879.6CP, HLA-B, TFRC

Sources for Hemochromatosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet