HFE3
MCID: HMC010
MIFTS: 49

Hemochromatosis, Type 3 (HFE3)

Categories: Cardiovascular diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hemochromatosis, Type 3

MalaCards integrated aliases for Hemochromatosis, Type 3:

Name: Hemochromatosis, Type 3 57 13 54 44 39 70
Hemochromatosis Type 3 12 73 20 58 29 6 15
Hemochromatosis Due to Defect in Transferrin Receptor 2 57 12 20 72
Hfe3 57 12 20 72
Tfr2-Related Hemochromatosis 12 58
Tfr2-Related Hereditary Hemochromatosis 20
Hemochromatosis 3 72

Characteristics:

Orphanet epidemiological data:

58
hemochromatosis type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
hemochromatosis, type 3:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111030
OMIM® 57 604250
OMIM Phenotypic Series 57 PS235200
SNOMED-CT 67 719974003
MESH via Orphanet 45 C537248
ICD10 via Orphanet 33 E83.1
UMLS via Orphanet 71 C1858664
Orphanet 58 ORPHA225123
MedGen 41 C1858664
UMLS 70 C1858664

Summaries for Hemochromatosis, Type 3

GARD : 20 Hemochromatosis type 3 is a disease in which too much iron builds up in the body. This is also called iron overload. Accumulation of iron in the organs is toxic and can cause organ damage. While many organs can be affected, iron overload is especially likely to affect the liver, heart, and pancreas. Early symptoms of hemochromatosis type 3 can include fatigue, weakness, and joint pain. Other symptoms may include abdominal pain, loss of sex drive, liver disease, diabetes, heart problems, and skin discoloration. Symptoms of hemochromatosis type 3 typically begin before 30-years-old. Hemochromatosis type 3 is caused by genetic changes ( mutations or pathogenic variants) to the TFR2 gene. The disease is inherited in an autosomal recessive manner. A diagnosis of hemochromatosis type 3 is suspected when a doctor observes signs and symptoms of the disease. A doctor may decide to order laboratory tests including a liver biopsy, MRI, or blood test. The diagnosis can be confirmed with genetic testing. Treatment of hemochromatosis type 3 usually involves reducing iron levels by removing blood ( phlebotomy ) or iron chelation. These treatments can prevent additional organ damage but typically do not reverse existing damage. To learn more about other types of hemochromatosis click on the disease names below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 4 Hemochromatosis type 5 Neonatal hemochromatosis

MalaCards based summary : Hemochromatosis, Type 3, also known as hemochromatosis type 3, is related to tfr2-related hereditary hemochromatosis and hemochromatosis, type 5, and has symptoms including fatigue An important gene associated with Hemochromatosis, Type 3 is TFR2 (Transferrin Receptor 2), and among its related pathways/superpathways are Insulin receptor recycling and TGF-beta signaling pathway (KEGG). Affiliated tissues include liver, heart and pancreas, and related phenotypes are arthritis and fatigue

Disease Ontology : 12 A hemochromatosis that has material basis in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22.

UniProtKB/Swiss-Prot : 72 Hemochromatosis 3: 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.

Wikipedia : 73 Haemochromatosis type 3 is a type of Iron overload disorder associated with deficiencies in transferrin... more...

More information from OMIM: 604250 PS235200

Related Diseases for Hemochromatosis, Type 3

Diseases in the Rare Hereditary 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

Diseases related to Hemochromatosis, Type 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 tfr2-related hereditary hemochromatosis 32.2 TFR2 LOC113687175
2 hemochromatosis, type 5 31.1 TFR2 HJV HFE FTH1 BMP6
3 hemochromatosis, type 4 30.4 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 HJV
4 arthropathy 30.3 HJV HFE HAMP
5 rare hereditary hemochromatosis 30.0 TFR2 SLC40A1 HJV HFE HAMP
6 hemosiderosis 29.7 TFR2 SLC40A1 SLC11A2 HJV HFE HAMP
7 hemochromatosis type 2 29.2 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 HJV
8 hemochromatosis, type 1 28.4 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 PANK2
9 hemochromatosis, neonatal 11.1
10 hypogonadism 10.2
11 47,xyy 10.2
12 folic acid deficiency anemia 10.1 TFRC HAMP
13 hemochromatosis, type 2a 10.1 HJV HAMP
14 iron-refractory iron deficiency anemia 10.1 TMPRSS6 HJV
15 cutaneous porphyria 10.1 HFE HAMP
16 anemia of prematurity 10.0 HAMP EPOR
17 sideroblastic anemia 10.0 TFR2 SLC40A1 HAMP
18 spastic paraplegia 38, autosomal dominant 10.0 TFRC FTH1
19 acquired polycythemia 10.0 HAMP EPOR
20 inherited metabolic disorder 9.9 TFR2 HJV HFE HAMP
21 autosomal recessive disease 9.9
22 thalassemia 9.9
23 mitochondrial dna depletion syndrome 3 9.9 SLC40A1 HJV
24 erythrocytosis, familial, 2 9.9 SLC11A2 HAMP EPOR
25 neurodegeneration with brain iron accumulation 3 9.9 SLC11A2 PANK2 FTH1
26 iron overload in africa 9.8 TFR2 SLC40A1 HJV HFE HAMP
27 polycythemia 9.8 TFRC HAMP EPOR
28 liver cirrhosis 9.8
29 alpha-thalassemia 9.8 TFRC HFE HAMP
30 nutritional deficiency disease 9.8 TMPRSS6 TFRC HJV HAMP
31 restless legs syndrome 9.8 TFRC SLC11A2 HAMP FTH1
32 siderosis 9.7 TFRC SLC40A1 HFE HAMP FTH1
33 hemoglobin h disease 9.7 TFRC HAMP ERFE
34 polycythemia vera 9.7 TFRC HAMP EPOR
35 porphyria cutanea tarda 9.6 TFRC TFR2 SLC40A1 HJV HFE HAMP
36 porphyria 9.6 TFRC TFR2 SLC40A1 HJV HFE HAMP
37 congenital dyserythropoietic anemia 9.6 TFRC HFE HAMP ERFE
38 anemia, congenital dyserythropoietic, type ia 9.6 TFRC HJV HAMP ERFE
39 hypochromic microcytic anemia 9.6 TMPRSS6 TFRC SLC11A2 HJV HAMP
40 hyperferritinemia with or without cataract 9.4 TFR2 SLC40A1 SLC11A2 HJV HFE HAMP
41 hemoglobinopathy 9.3 TFRC TFR2 HJV HFE HAMP ERFE
42 microcytic anemia 9.3 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 HJV
43 anemia, sideroblastic, 1 9.3 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 HJV
44 myelodysplastic syndrome 9.3 TFRC HFE HAMP ERFE EPOR
45 iron deficiency anemia 9.2 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 HJV
46 atransferrinemia 9.2 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 HJV
47 neurodegeneration with brain iron accumulation 9.1 TFRC TFR2 SLC40A1 SLC11A2 PANK2 HFE
48 iron metabolism disease 8.9 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 PANK2
49 beta-thalassemia 8.6 TMPRSS6 TFRC TFR2 HJV HFE HAMP
50 aceruloplasminemia 8.3 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 PANK2

Graphical network of the top 20 diseases related to Hemochromatosis, Type 3:



Diseases related to Hemochromatosis, Type 3

Symptoms & Phenotypes for Hemochromatosis, Type 3

Human phenotypes related to Hemochromatosis, Type 3:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 arthritis 31 HP:0001369
2 fatigue 31 HP:0012378
3 anemia 31 HP:0001903
4 elevated hepatic transaminase 31 HP:0002910
5 cirrhosis 31 HP:0001394
6 lymphopenia 31 HP:0001888
7 purpura 31 HP:0000979
8 neutropenia 31 HP:0001875
9 impotence 31 HP:0000802
10 cardiomyopathy 31 HP:0001638
11 increased serum iron 31 HP:0003452
12 amenorrhea 31 HP:0000141
13 hyperpigmentation of the skin 31 HP:0000953
14 hypogonadotropic hypogonadism 31 HP:0000044
15 increased circulating ferritin concentration 31 HP:0003281

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal:
arthritis

Hematology:
anemia
lymphopenia
neutropenia
thrombocytopenic purpura

Genitourinary Internal Genitalia Male:
impotence
decreased libido

Genitourinary External Genitalia Male:
hypogonadism

Genitourinary Internal Genitalia Female:
amenorrhea

Endocrine Features:
diabetes

Neurologic Behavioral Psychiatric Manifestations:
fatigue

Abdomen Liver:
cirrhosis
fibrosis

Cardiovascular Heart:
cardiomyopathy

Laboratory Abnormalities:
increased serum ferritin
increased serum iron
increased transferrin saturation
increased liver transaminases

Skin Nails Hair Skin:
hyperpigmentation

Clinical features from OMIM®:

604250 (Updated 20-May-2021)

UMLS symptoms related to Hemochromatosis, Type 3:


fatigue

MGI Mouse Phenotypes related to Hemochromatosis, Type 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.11 BMP6 EPOR FTH1 HFE HJV PANK2
2 hematopoietic system MP:0005397 10.06 EPOR ERFE FTH1 HFE HJV PANK2
3 homeostasis/metabolism MP:0005376 10 EPOR ERFE FTH1 HFE HJV PANK2
4 immune system MP:0005387 9.85 EPOR FTH1 HFE HJV PANK2 SLC11A2
5 liver/biliary system MP:0005370 9.7 EPOR ERFE FTH1 HFE HJV PANK2
6 nervous system MP:0003631 9.28 EPOR FTH1 HFE HJV PANK2 SLC11A2

Drugs & Therapeutics for Hemochromatosis, Type 3

Search Clinical Trials , NIH Clinical Center for Hemochromatosis, Type 3

Cochrane evidence based reviews: hemochromatosis, type 3

Genetic Tests for Hemochromatosis, Type 3

Genetic tests related to Hemochromatosis, Type 3:

# Genetic test Affiliating Genes
1 Hemochromatosis Type 3 29 TFR2

Anatomical Context for Hemochromatosis, Type 3

MalaCards organs/tissues related to Hemochromatosis, Type 3:

40
Liver, Heart, Pancreas, Brain

Publications for Hemochromatosis, Type 3

Articles related to Hemochromatosis, Type 3:

(show all 22)
# Title Authors PMID Year
1
Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation. 57 6
12130528 2002
2
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. 57 6
10802645 2000
3
New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. 61 54 6
11313241 2001
4
Haemochromatosis: novel gene discovery and the molecular pathophysiology of iron metabolism. 57
11005792 2000
5
Inherited HFE-unrelated hemochromatosis in Italian families. 57
10216143 1999
6
Current approach to hemochromatosis. 61 54
18430498 2008
7
Hemochromatosis gene sequence deviations in German patients with porphyria cutanea tarda. 61 54
17298224 2006
8
Structural, functional, and tissue distribution analysis of human transferrin receptor-2 by murine monoclonal antibodies and a polyclonal antiserum. 61 54
12393650 2002
9
Rare causes of hereditary iron overload. 61 54
12382200 2002
10
Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene. 54 61
11984516 2002
11
Linkage to chromosome 1q in Greek families with juvenile hemochromatosis. 61 54
11778658 2001
12
Juvenile Hemochromatosis: Rheumatic Manifestations of 2 Sisters Responding to Deferasirox Treatment. A Case Series and Literature Review. 61
33488128 2021
13
Small Molecule Inhibitors of NFkB Reverse Iron Overload and Hepcidin Deregulation in a Zebrafish Model for Hereditary Hemochromatosis Type 3. 61
29897731 2018
14
Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3. 61
26029709 2015
15
The second transferrin receptor regulates red blood cell production in mice. 61
25499454 2015
16
Comparison of 3 Tfr2-deficient murine models suggests distinct functions for Tfr2-alpha and Tfr2-beta isoforms in different tissues. 61
20179178 2010
17
Expression of hepcidin and other iron-related genes in type 3 hemochromatosis due to a novel mutation in transferrin receptor-2. 54
19144662 2009
18
A novel mutation of transferrin receptor 2 in a Taiwanese woman with type 3 hemochromatosis. 54
17562347 2007
19
Transferrin receptor 2 is frequently expressed in human cancer cell lines. 61
17428703 2007
20
Iron absorption and hepatic iron uptake are increased in a transferrin receptor 2 (Y245X) mutant mouse model of hemochromatosis type 3. 61
16935854 2007
21
Type 3 hemochromatosis and beta-thalassemia trait. 54
15059075 2004
22
Hemochromatosis due to mutations in transferrin receptor 2. 61
12547237 2002

Variations for Hemochromatosis, Type 3

ClinVar genetic disease variations for Hemochromatosis, Type 3:

6 (show top 50) (show all 127)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TFR2 NM_003227.4(TFR2):c.1665del (p.Ser556fs) Deletion Pathogenic 21367 rs80338887 GRCh37: 7:100225384-100225384
GRCh38: 7:100627761-100627761
2 TFR2 NM_003227.4(TFR2):c.2137-1G>A SNV Pathogenic 21371 rs80338890 GRCh37: 7:100218750-100218750
GRCh38: 7:100621127-100621127
3 TFR2 NM_003227.4(TFR2):c.2374G>A (p.Gly792Arg) SNV Pathogenic 21374 rs80338891 GRCh37: 7:100218512-100218512
GRCh38: 7:100620889-100620889
4 TFR2 NM_003227.4(TFR2):c.313C>T (p.Arg105Ter) SNV Pathogenic 21375 rs80338878 GRCh37: 7:100238469-100238469
GRCh38: 7:100640846-100640846
5 TFR2 NM_003227.4(TFR2):c.949C>T (p.Gln317Ter) SNV Pathogenic 21379 rs80338881 GRCh37: 7:100229722-100229722
GRCh38: 7:100632099-100632099
6 TFR2 NM_003227.4(TFR2):c.1330G>A (p.Ala444Thr) SNV Pathogenic 21364 rs80338884 GRCh37: 7:100226936-100226936
GRCh38: 7:100629313-100629313
7 TFR2 NM_003227.4(TFR2):c.1232_1234ACA[1] (p.Asn412del) Microsatellite Pathogenic 21363 rs80338883 GRCh37: 7:100228545-100228547
GRCh38: 7:100630922-100630924
8 TFR2 NM_003227.4(TFR2):c.1186C>T (p.Arg396Ter) SNV Pathogenic 21362 rs80338882 GRCh37: 7:100228596-100228596
GRCh38: 7:100630973-100630973
9 LOC113687175 , TFR2 NM_003227.4(TFR2):c.2069A>C (p.Gln690Pro) SNV Pathogenic 5384 rs80338889 GRCh37: 7:100224453-100224453
GRCh38: 7:100626830-100626830
10 TFR2 NM_003227.4(TFR2):c.515T>A (p.Met172Lys) SNV Pathogenic 5382 rs80338879 GRCh37: 7:100231138-100231138
GRCh38: 7:100633515-100633515
11 TFR2 NM_003227.4(TFR2):c.88dup (p.Arg30fs) Duplication Pathogenic 5381 rs80338877 GRCh37: 7:100238796-100238797
GRCh38: 7:100641173-100641174
12 TFR2 NM_003227.4(TFR2):c.750C>G (p.Tyr250Ter) SNV Pathogenic 5380 rs80338880 GRCh37: 7:100230723-100230723
GRCh38: 7:100633100-100633100
13 TFR2 NM_003227.4(TFR2):c.1469T>G (p.Leu490Arg) SNV Pathogenic 21366 rs80338886 GRCh37: 7:100225851-100225851
GRCh38: 7:100628228-100628228
14 TFR2 NM_003227.4(TFR2):c.1403G>A (p.Arg468His) SNV Pathogenic 21365 rs80338885 GRCh37: 7:100225917-100225917
GRCh38: 7:100628294-100628294
15 TFR2 NM_003227.4(TFR2):c.671T>G (p.Leu224Arg) SNV Pathogenic 917399 GRCh37: 7:100230907-100230907
GRCh38: 7:100633284-100633284
16 TFR2 NG_007989.1:g.18579del Deletion Pathogenic 917400 GRCh37: 7:100225595-100225595
GRCh38: 7:100627972-100627972
17 TFR2 NM_003227.4(TFR2):c.1398del (p.Arg468fs) Deletion Pathogenic 461197 rs773050231 GRCh37: 7:100225922-100225922
GRCh38: 7:100628299-100628299
18 TFR2 NM_003227.4(TFR2):c.286+2T>C SNV Pathogenic 1028095 GRCh37: 7:100238597-100238597
GRCh38: 7:100640974-100640974
19 TFR2 NM_003227.4(TFR2):c.1849_1860GCCGTGGCCCAG[1] (p.617_620AVAQ[1]) Microsatellite Pathogenic 21370 rs80338888 GRCh37: 7:100225010-100225021
GRCh38: 7:100627387-100627398
20 LOC113687175 , TFR2 NM_003227.4(TFR2):c.2014C>T (p.Gln672Ter) SNV Conflicting interpretations of pathogenicity 632495 rs1051249273 GRCh37: 7:100224508-100224508
GRCh38: 7:100626885-100626885
21 TFR2 NM_003227.4(TFR2):c.726+9C>T SNV Uncertain significance 358295 rs372020405 GRCh37: 7:100230843-100230843
GRCh38: 7:100633220-100633220
22 TFR2 NM_003227.4(TFR2):c.2367G>A (p.Ala789=) SNV Uncertain significance 358283 rs374766778 GRCh37: 7:100218519-100218519
GRCh38: 7:100620896-100620896
23 TFR2 NM_003227.4(TFR2):c.1682+9G>T SNV Uncertain significance 358287 rs41295906 GRCh37: 7:100225358-100225358
GRCh38: 7:100627735-100627735
24 TFR2 NM_003227.4(TFR2):c.*435T>C SNV Uncertain significance 908971 GRCh37: 7:100218045-100218045
GRCh38: 7:100620422-100620422
25 TFR2 NM_003227.4(TFR2):c.*280A>C SNV Uncertain significance 908972 GRCh37: 7:100218200-100218200
GRCh38: 7:100620577-100620577
26 TFR2 NM_003227.4(TFR2):c.1875C>T (p.Leu625=) SNV Uncertain significance 761805 rs778534889 GRCh37: 7:100225007-100225007
GRCh38: 7:100627384-100627384
27 TFR2 NM_003227.4(TFR2):c.1863C>T (p.Ala621=) SNV Uncertain significance 909029 GRCh37: 7:100225019-100225019
GRCh38: 7:100627396-100627396
28 TFR2 NM_003227.4(TFR2):c.1747G>A (p.Val583Ile) SNV Uncertain significance 909030 GRCh37: 7:100225220-100225220
GRCh38: 7:100627597-100627597
29 TFR2 NM_003227.4(TFR2):c.1683-4C>T SNV Uncertain significance 909031 GRCh37: 7:100225288-100225288
GRCh38: 7:100627665-100627665
30 TFR2 NM_003227.4(TFR2):c.822C>T (p.Arg274=) SNV Uncertain significance 909091 GRCh37: 7:100230651-100230651
GRCh38: 7:100633028-100633028
31 TFR2 NM_003227.4(TFR2):c.759C>A (p.Pro253=) SNV Uncertain significance 909092 GRCh37: 7:100230714-100230714
GRCh38: 7:100633091-100633091
32 TFR2 NM_003227.4(TFR2):c.*142G>A SNV Uncertain significance 909842 GRCh37: 7:100218338-100218338
GRCh38: 7:100620715-100620715
33 TFR2 NM_003227.4(TFR2):c.*141C>T SNV Uncertain significance 909843 GRCh37: 7:100218339-100218339
GRCh38: 7:100620716-100620716
34 TFR2 NM_003227.4(TFR2):c.*55G>A SNV Uncertain significance 909844 GRCh37: 7:100218425-100218425
GRCh38: 7:100620802-100620802
35 TFR2 NM_003227.4(TFR2):c.*1G>A SNV Uncertain significance 909845 GRCh37: 7:100218479-100218479
GRCh38: 7:100620856-100620856
36 TFR2 NM_003227.4(TFR2):c.1682+11G>C SNV Uncertain significance 909890 GRCh37: 7:100225356-100225356
GRCh38: 7:100627733-100627733
37 TFR2 NM_003227.4(TFR2):c.1682+4A>C SNV Uncertain significance 909891 GRCh37: 7:100225363-100225363
GRCh38: 7:100627740-100627740
38 TFR2 NM_003227.4(TFR2):c.1620C>T (p.Asn540=) SNV Uncertain significance 695828 rs199600701 GRCh37: 7:100225429-100225429
GRCh38: 7:100627806-100627806
39 TFR2 NM_003227.4(TFR2):c.1486G>A (p.Val496Met) SNV Uncertain significance 909892 GRCh37: 7:100225747-100225747
GRCh38: 7:100628124-100628124
40 TFR2 NM_003227.4(TFR2):c.-8A>T SNV Uncertain significance 358302 rs146487147 GRCh37: 7:100239140-100239140
GRCh38: 7:100641517-100641517
41 TFR2 NM_003227.4(TFR2):c.140C>T (p.Thr47Ile) SNV Uncertain significance 358301 rs886061834 GRCh37: 7:100238745-100238745
GRCh38: 7:100641122-100641122
42 TFR2 NM_003227.4(TFR2):c.1252G>A (p.Glu418Lys) SNV Uncertain significance 358291 rs139383159 GRCh37: 7:100228530-100228530
GRCh38: 7:100630907-100630907
43 TFR2 NM_003227.4(TFR2):c.674C>T (p.Pro225Leu) SNV Uncertain significance 358296 rs775428895 GRCh37: 7:100230904-100230904
GRCh38: 7:100633281-100633281
44 TFR2 NM_003227.4(TFR2):c.2183C>T (p.Pro728Leu) SNV Uncertain significance 358284 rs772659158 GRCh37: 7:100218703-100218703
GRCh38: 7:100621080-100621080
45 TFR2 NM_003227.4(TFR2):c.*220C>T SNV Uncertain significance 358280 rs560786834 GRCh37: 7:100218260-100218260
GRCh38: 7:100620637-100620637
46 TFR2 NM_003227.4(TFR2):c.617C>A (p.Ala206Asp) SNV Uncertain significance 358297 rs756655285 GRCh37: 7:100230961-100230961
GRCh38: 7:100633338-100633338
47 TFR2 NM_003227.4(TFR2):c.64G>A (p.Val22Ile) SNV Uncertain significance 21377 rs80338876 GRCh37: 7:100238821-100238821
GRCh38: 7:100641198-100641198
48 TFR2 NM_003227.4(TFR2):c.224C>T (p.Ala75Val) SNV Uncertain significance 21373 rs41302357 GRCh37: 7:100238661-100238661
GRCh38: 7:100641038-100641038
49 TFR2 NM_003227.4(TFR2):c.1364G>A (p.Arg455Gln) SNV Uncertain significance 5383 rs41303501 GRCh37: 7:100226902-100226902
GRCh38: 7:100629279-100629279
50 TFR2 NM_003227.4(TFR2):c.1167T>C (p.Tyr389=) SNV Uncertain significance 912006 GRCh37: 7:100228615-100228615
GRCh38: 7:100630992-100630992

UniProtKB/Swiss-Prot genetic disease variations for Hemochromatosis, Type 3:

72
# Symbol AA change Variation ID SNP ID
1 TFR2 p.Met172Lys VAR_012738 rs80338879
2 TFR2 p.Val22Ile VAR_042515 rs80338876
3 TFR2 p.Gln690Pro VAR_042517 rs80338889

Expression for Hemochromatosis, Type 3

Search GEO for disease gene expression data for Hemochromatosis, Type 3.

Pathways for Hemochromatosis, Type 3

GO Terms for Hemochromatosis, Type 3

Cellular components related to Hemochromatosis, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.07 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 PANK2
2 integral component of plasma membrane GO:0005887 9.73 TFRC TFR2 SLC40A1 SLC11A2 HFE EPOR
3 recycling endosome GO:0055037 9.5 TFRC SLC11A2 HFE
4 extracellular space GO:0005615 9.5 TMPRSS6 TFRC HJV HFE HAMP ERFE
5 basal part of cell GO:0045178 9.16 SLC11A2 HFE
6 HFE-transferrin receptor complex GO:1990712 8.92 TFRC TFR2 HJV HFE

Biological processes related to Hemochromatosis, Type 3 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.97 TMPRSS6 TFR2 HJV HAMP BMP6
2 BMP signaling pathway GO:0030509 9.71 HJV HFE BMP6
3 iron ion transport GO:0006826 9.62 TFRC TFR2 SLC11A2 FTH1
4 acute-phase response GO:0006953 9.61 TFR2 HFE HAMP
5 transferrin transport GO:0033572 9.58 TFRC TFR2 HFE
6 cellular response to BMP stimulus GO:0071773 9.56 HJV BMP6
7 multicellular organismal iron ion homeostasis GO:0060586 9.56 SLC40A1 SLC11A2 HAMP BMP6
8 liver regeneration GO:0097421 9.55 HFE HAMP
9 response to iron ion GO:0010039 9.55 TFR2 SLC11A2 HFE HAMP BMP6
10 cellular response to iron ion GO:0071281 9.54 TFR2 HFE BMP6
11 positive regulation of peptide hormone secretion GO:0090277 9.52 TFR2 HFE
12 iron ion transmembrane transport GO:0034755 9.51 SLC40A1 SLC11A2
13 iron ion homeostasis GO:0055072 9.5 TMPRSS6 TFR2 SLC40A1 SLC11A2 HJV HFE
14 regulation of fatty acid metabolic process GO:0019217 9.49 PANK2 ERFE
15 divalent inorganic cation transport GO:0072511 9.48 SLC40A1 SLC11A2
16 response to iron ion starvation GO:1990641 9.46 HFE HAMP
17 cellular iron ion homeostasis GO:0006879 9.36 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 HJV

Molecular functions related to Hemochromatosis, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 co-receptor binding GO:0039706 9.32 TFR2 HFE
2 transferrin receptor binding GO:1990459 9.26 HJV HFE
3 iron ion transmembrane transporter activity GO:0005381 9.16 SLC40A1 SLC11A2
4 ferrous iron transmembrane transporter activity GO:0015093 8.96 SLC40A1 SLC11A2
5 transferrin receptor activity GO:0004998 8.62 TFRC TFR2

Sources for Hemochromatosis, Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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