MCID: HMC003
MIFTS: 69

Hemochromatosis malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Liver diseases

Aliases & Classifications for Hemochromatosis

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Aliases & Descriptions for Hemochromatosis:

Name: Hemochromatosis 49 10 11 68 45 23 47 12 36 35 2 65
Hereditary Hemochromatosis 68 23 47 67 24 65
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
Hemochromatosis 1 67 24
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
Hemochromatosis, Type 1 65
Pigmentary Cirrhosis 23
Bronze Cirrhosis 65
Hemochromatoses 68
Diabetes Bronze 10
Hfe1 67
Hc 23

Characteristics:

HPO:

61
hemochromatosis:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 235200
Disease Ontology10 DOID:2352
MeSH36 D006432
NCIt42 C84481
MedGen34 C0392514
UMLS65 C0018995, C3469186, C1442995 C0392514, more

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 4 and alzheimer disease, 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 pancreas, and related mouse phenotypes are liver/biliary system and cardiovascular system.

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

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.

NIH Rare Diseases:45 Hemochromatosis is a condition in which too much iron builds up in the body (iron overload). accumulation of iron in the organs is toxic and can result in organ failure. while many organs can be affected, it may especially affect the liver, heart, and pancreas. symptoms of hemochromatosis tend to develop gradually and often don't appear until middle age or later. the condition may not be diagnosed until iron accumulation is excessive. early symptoms may be vague, such as fatigue or weakness. other symptoms or features may include joint pain, abdominal pain, loss of sex drive, arthritis, liver disease, diabetes, heart problems, and skin discoloration. hemochromatosis may be hereditary or acquired (secondary) due to another condition such as anemia, chronic liver disease, or an infection. there is also a neonatal form. hereditary hemochromatosis is classified by type based on age of onset, genetic cause and mode of inheritance:hemochromotosis type 1 hemochromatosis type 2 hemochromatosis type 3 hemochromatosis type 4 treatment usually involves removing blood (phlebotomy), which prevents additional organ damage but does not reverse existing damage. last updated: 11/19/2015

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

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 743)
idRelated DiseaseScoreTop Affiliating Genes
1hemochromatosis, type 434.7SLC40A1, TFR2
2alzheimer disease31.0HFE, HLA-H
3porphyria cutanea tarda30.8CYBRD1, HAMP, HFE, HLA-H, SLC40A1, TF
4thromboangiitis obliterans30.2HFE, TF, TFRC
5guillain-barre syndrome29.9CP, TF
6hemochromatosis, type 312.6
7hemochromatosis type 212.6
8hemochromatosis, type 2a12.5
9neonatal hemochromatosis12.5
10hemochromatosis, type 2b12.5
11hemochromatosis, type 512.5
12juvenile hereditary hemochromatosis12.4
13tfr2-related hereditary hemochromatosis12.3
14hfe-associated hereditary hemochromatosis12.3
15haemochromatosis type 412.3
16slc40a1-related hereditary hemochromatosis12.3
17hamp-related juvenile hemochromatosis12.3
18hjv -related juvenile hemochromatosis12.3
19tumoral calcinosis, hyperphosphatemic, familial11.7
20hajdu-cheney syndrome11.7
21hypotrichosis 111.6
22dyskeratosis congenita, x-linked11.6
23bantu siderosis11.5
24hypotonia-cystinuria syndrome11.5
25atypical hypotonia-cystinuria syndrome11.3
26hypogonadotropic hypogonadism 7 without anosmia11.2
27nance-horan syndrome11.2
28haemochromatosis type 211.2
29pigmentary cirrhosis11.2
30hepatocellular carcinoma10.7
31galactosemia10.7
32baraitser brett piesowicz syndrome10.6HFE, TF
33diarrhea 1, secretory chloride, congenital10.5HFE, TFR2
34ah amyloidosis10.5HFE, UROD
35kat6b-related disorders10.5HAMP, HFE, HFE2, TFR2
36malignant parietal pleura tumor10.5TF, TFRC
37gastric small cell carcinoma10.4HAMP, HFE, TF, TFR2
38prostate malignant phyllodes tumor10.4B2M, HLA-B
39cutaneous porphyria10.4HFE, TF, UROD
40sickle cell anemia10.4HFE, TF, TFR2, TFRC
41methemoglobinemia beta-globin type10.4HAMP, HFE, HFE2, SLC40A1, TFR2
42dyserythropoietic anemia, congenital, type ia10.4
43protoporphyria, erythropoietic, x-linked10.4ACO1, HAMP, TFR2, TFRC
44undetermined early-onset epileptic encephalopathy10.4HFE, HLA-B, TFRC, UROD
45dermoid cyst of ovary10.4CP, HAMP, TF
46hemicrania continua10.4
47fatal infantile encephalocardiomyopathy10.3CP, FTL, TFR2
48endotheliitis10.3
49duane-radial ray syndrome10.3CP, HEPH, TF
50porphyria variegata10.3HFE, HLA-H, 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 46)
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 arrhythmia HP:0011675
23 increased serum iron HP:0003452
24 increased serum ferritin HP:0003281
25 arthropathy HP:0003040
26 elevated hepatic transaminases HP:0002910
27 hepatomegaly HP:0002240
28 pleural effusion HP:0002202
29 abnormal glucose tolerance HP:0001952
30 splenomegaly HP:0001744
31 cardiomegaly HP:0001640
32 cardiomyopathy HP:0001638
33 congestive heart failure HP:0001635
34 alopecia HP:0001596
35 ascites HP:0001541
36 hepatocellular carcinoma HP:0001402
37 cirrhosis HP:0001394
38 telangiectasia HP:0001009
39 hyperpigmentation of the skin HP:0000953
40 osteoporosis HP:0000939
41 diabetes mellitus HP:0000819
42 impotence HP:0000802
43 amenorrhea HP:0000141
44 hypogonadotrophic hypogonadism HP:0000044
45 testicular atrophy HP:0000029
46 azoospermia HP:0000027

Drugs & Therapeutics for Hemochromatosis

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

(show all 28)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
IronapprovedPhase 4, Phase 3, Phase 2, Phase 110217439-89-623925
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
2
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
3
DeferiproneapprovedPhase 4, Phase 3, Phase 2, Phase 15330652-11-02972
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
4
Deferasiroxapproved, investigationalPhase 4, Phase 3, Phase 1, Phase 286201530-41-85493381
Synonyms:
Deferasiroxum
Deferasiroxum [inn-latin]
 
Exjade
ICL 670
ICL 670a
deferasirox
5
Omeprazoleapproved, investigationalPhase 432173590-58-64594
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
6Chelating AgentsPhase 4, Phase 3, Phase 2, Phase 1667
7Liver ExtractsPhase 4, Phase 3, Phase 23572
8Iron Chelating AgentsPhase 4, Phase 3, Phase 2, Phase 1178
9
HydroxyureaapprovedPhase 3188127-07-13657
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
10Phase 3
11Pharmaceutical SolutionsPhase 2, Phase 37004
12Nucleic Acid Synthesis InhibitorsPhase 33836
13MicronutrientsPhase 23901
14Trace ElementsPhase 23900
15HepcidinsPhase 249
16Anti-Infective AgentsPhase 217220
17
NifedipineapprovedPhase 110621829-25-44485
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
18Tocolytic AgentsPhase 1561
19Vasodilator AgentsPhase 12926
20Calcium, DietaryPhase 14678
21calcium channel blockersPhase 11743
22
Pantoprazoleapproved166102625-70-74679
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
23Hematinics1121
24
Proton pump inhibitors958
Synonyms:
 
PPIs
25Gastrointestinal Agents6401
26Anti-Ulcer Agents1453
27Antacids1453
28Iron SupplementNutraceutical159

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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Anatomical Context for Hemochromatosis

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MalaCards organs/tissues related to Hemochromatosis:

33
Liver, Heart, Pancreas, Skin, Lung, Testes, 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:00053858.9B2M, BMP2, CP, CYBRD1, HEPH, HFE2
3MP:00053978.6B2M, BMP2, CP, HEPH, HFE, HFE2
4MP:00053878.4B2M, BMP2, CP, HEPH, HFE, HFE2
5MP:00053768.3ACO1, B2M, BMP2, CP, CYBRD1, HEPH

Publications for Hemochromatosis

About this section

Articles related to Hemochromatosis:

(show top 50)    (show all 1230)
idTitleAuthorsYear
1
Everolimus-induced near-resolution of giant cardiac rhabdomyomas and large renal angiomyolipoma in a newborn with tuberous sclerosis complex. (27055516)
2016
2
Salvage splenopexy for torsion of wandering spleen in a child. (24834385)
2014
3
miR-132 targeting cyclin E1 suppresses cell proliferation in osteosarcoma cells. (24449507)
2014
4
Maintaining perceptual constancy while remaining vigilant: Left hemisphere change blindness and right hemisphere vigilance. (23574348)
2014
5
Interplay between 3'-UTR polymorphisms in the vascular endothelial growth factor (VEGF) gene and metabolic syndrome in determining the risk of colorectal cancer in Koreans. (25423914)
2014
6
Identifying chemicals with potential therapy of HIV based on protein-protein and protein-chemical interaction network. (23762317)
2013
7
Residual I^-cell mass influences growth of prepubertal children with type 1 diabetes. (24051686)
2013
8
Rubella in Poland in 2011. (24040714)
2013
9
Intravascular large B-cell lymphoma confirmed by brain biopsy: a case report. (23420723)
2013
10
Akt-dependent activation of the heart 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase (PFKFB2) isoenzyme by amino acids. (23457334)
2013
11
Parents' experiences of having and caring for a child with an eating disorder. (24044596)
2013
12
Occurrence and prognostic significance of cervical pseudodissection phenomenon associated with acute intracranial internal carotid artery occlusion. (23228049)
2013
13
CDC25B, Ki-67, and p53 expressions in reactive gliosis and astrocytomas. (24344030)
2013
14
The matrix metalloproteinase-7 regulates the extracellular shedding of syndecan-2 from colon cancer cells. (22227189)
2012
15
Anesthetic management during Cesarean section in a woman with residual Arnold-Chiari malformation Type I, cervical kyphosis, and syringomyelia. (22439117)
2012
16
Complement system and small HDL particles are associated with subclinical atherosclerosis in SLE patients. (23031360)
2012
17
Hereditary neuropathy with liability to pressure palsies. Diagnosis in the first family (1947) confirmed. (23279343)
2012
18
Leiomyoma of the Round Ligament of the Uterus: Case report and review of literature. (22912930)
2012
19
Cutaneous myeloid sarcoma presenting as grey pigmented macules. (22278733)
2012
20
Cholera vaccine: new preventive tool for endemic countries. (22634452)
2012
21
Treatment of progressive multifocal leukoencephalopathy and idiopathic CD4+ lymphocytopenia. (20961908)
2010
22
A splice variant of the SLC28A3 gene encodes a novel human concentrative nucleoside transporter-3 (hCNT3) protein localized in the endoplasmic reticulum. (18827020)
2009
23
Persistent elevation of VEGF and prostacyclin following poor cardiopulmonary adaptation to high altitude. (19364178)
2009
24
HIF-1alpha modulates energy metabolism in cancer cells by inducing over-expression of specific glycolytic isoforms. (19689405)
2009
25
Trichostatin A up-regulates p73 and induces Bax-dependent apoptosis in cisplatin-resistant ovarian cancer cells. (18566213)
2008
26
Study on signal transduction pathway in differentiation and apoptosis of leukemia cells induced by heat shock protein inhibitor]. (18399173)
2007
27
Oro-facial-digital syndrome IX with severe microcephaly: a new variant in a genetically isolated population. (18000902)
2007
28
The C2 variant of human serum transferrin retains the iron binding properties of the native protein. (15975770)
2005
29
Genome-wide localization of histone 4 arginine 3 methylation in a differentiation primed myeloid leukemia cell line. (16164021)
2005
30
Disseminating anaplastic brainstem oligodendroglioma associated with allelic loss in the tumor suppressor candidate region D19S246 of chromosome 19 mimicking an inflammatory central nervous system disease in a 9-year-old boy. (16084959)
2005
31
Sperm retrieval for intra-cytoplasmic sperm injection in non-obstructive azoospermia. (15951734)
2005
32
Cyclin-dependent kinase 5 associated with p39 promotes Munc18-1 phosphorylation and Ca(2+)-dependent exocytosis. (15123626)
2004
33
Recycling of the dense-core vesicle membrane protein phogrin in Min6 beta-cells. (15485654)
2004
34
Mammaglobin expression in leukapheresis products is a predictive marker of poor prognosis in women with high-risk breast cancer. (15447988)
2004
35
Weight loss in a patient with morbid obesity under treatment with oleoyl-estrone]. (14588193)
2003
36
Determination of allergen-specific IgE in patients with atopy or allergy symptoms]. (12970591)
2003
37
The pathogenesis of Crohn's disease in the 21st century. (12555995)
2002
38
Constrictive pericarditis in the modern era: a diagnostic dilemma. (11711451)
2001
39
Prenatal blockade of vasoactive intestinal peptide alters cell death and synaptic equipment in the murine neocortex. (10625083)
2000
40
Multiparameter immunohistochemical analysis of the cell cycle proteins cyclin D1, Ki-67, p21WAF1, p27KIP1, and p53 in mantle cell lymphoma. (11035575)
2000
41
Cell death, calcium mobilization, and immunostaining for phosphorylated eukaryotic initiation factor 2-alpha (eIF2alpha) in neuronally differentiated NB-104 cells: arachidonate and radical-mediated injury mechanisms. (10459595)
1999
42
Apolipoprotein B in the rough endoplasmic reticulum: translation, translocation and the initiation of lipoprotein assembly. (10064309)
1999
43
Potentiating action of MKC-242, a selective 5-HT1A receptor agonist, on the photic entrainment of the circadian activity rhythm in hamsters. (9863658)
1998
44
Effect of CGS 20267 on ovarian aromatase and gonadotropin levels in the rat. (9541188)
1998
45
Frequent intragenic polymorphism in the 3' untranslated region of the lissencephaly gene 1 (LIS-1). (9147889)
1996
46
MK-801 does not attenuate immediate-early gene expression following an amygdala afterdischarge. (8076670)
1994
47
CONGENITAL MULTILOCULAR MESENTERIC CYST WITH CHYLOUS ASCITES. (14208042)
1964
48
Cross intradermal reactions of patients with paragonimiasis, clonorchiasis and schistosomiasis to different trematode antigens and their clinical significance. (13277038)
1955
49
50

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 16)
id Gene Variation Type Significance SNP ID Assembly Location
1HFENM_000410.3(HFE): c.187C> G (p.His63Asp)single nucleotide variantPathogenic, risk factorrs1799945GRCh37Chr 6, 26091179: 26091179
2HFENM_000410.3(HFE): c.193A> T (p.Ser65Cys)single nucleotide variantPathogenicrs1800730GRCh37Chr 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 pathogenicrs786204108GRCh38Chr 7, 100626866: 100626866
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
11TFR2NM_003227.3(TFR2): c.1403G> A (p.Arg468His)single nucleotide variantPathogenicrs80338885GRCh37Chr 7, 100225917: 100225917
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
14HAMPNM_021175.3(HAMP): c.212G> A (p.Gly71Asp)single nucleotide variantrisk factorrs104894696GRCh37Chr 19, 35775902: 35775902
15HFENM_000410.3(HFE): c.502G> T (p.Glu168Ter)single nucleotide variantPathogenicrs146519482GRCh38Chr 6, 26091475: 26091475
16HFENM_000410.3(HFE): c.845G> A (p.Cys282Tyr)single nucleotide variantPathogenic, 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 pathwaysScoreTop Affiliating Genes
110.0CP, TF, TFRC
2
Show member pathways
10.0BMP2, HFE2, UBE2D1
39.8B2M, HFE, HLA-B, HLA-H
49.8B2M, HFE, HLA-B, HLA-H
5
Show member pathways
9.8B2M, HFE, HLA-B, HLA-H
6
Show member pathways
9.8CP, HEPH, SLC11A2, SLC40A1
79.4CYBRD1, FTL, HEPH, SLC11A2, SLC40A1, TF
89.4ACO1, HAMP, SLC11A2, SLC40A1, TF, TFR2
9
Show member pathways
9.1CP, CYBRD1, FTL, HEPH, SLC11A2, SLC40A1
10
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:

idNameGO IDScoreTop Affiliating Genes
1basal part of cellGO:004517810.5HFE, SLC11A2
2HFE-transferrin receptor complexGO:199071210.4B2M, HFE2, TF
3cell surfaceGO:00099869.9HLA-B, TF, TFRC

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of peptide hormone secretionGO:009027710.8HFE, TFR2
2positive regulation of ferrous iron bindingGO:190443410.7B2M, HFE
3negative regulation of receptor bindingGO:190012110.7B2M, HFE
4positive regulation of ferrous iron import into cellGO:190399110.7B2M, HFE
5retina homeostasisGO:000189510.6B2M, TF
6antigen processing and presentationGO:001988210.6HFE, HLA-B
7positive regulation of T cell mediated cytotoxicityGO:000191610.6B2M, HLA-B
8response to iron ionGO:001003910.6HAMP, HFE, TFR2
9multicellular organismal iron ion homeostasisGO:006058610.3HAMP, HFE, SLC40A1
10porphyrin-containing compound metabolic processGO:000677810.1SLC11A2, UROD
11antigen processing and presentation of peptide antigen via MHC class IGO:00024749.9B2M, HFE, HLA-B, HLA-H, MR1
12copper ion transportGO:00068259.8CP, SLC11A2
13cellular iron ion homeostasisGO:00068799.7FTL, HEPH, SLC40A1, TF, TFR2, TFRC
14iron ion homeostasisGO:00550729.7B2M, FTL, HFE, HFE2, SLC40A1, TF
15transmembrane transportGO:00550859.1CP, FTL, HEPH, SLC11A2, SLC40A1, TF

Sources for Hemochromatosis

About this section
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