HFE4
MCID: HMC035
MIFTS: 51

Hemochromatosis, Type 4 (HFE4)

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

Aliases & Classifications for Hemochromatosis, Type 4

MalaCards integrated aliases for Hemochromatosis, Type 4:

Name: Hemochromatosis, Type 4 56 13 43 39 71
Hemochromatosis Type 4 12 74 52 58 29 6 15
Hemochromatosis Due to Defect in Ferroportin 56 12 52 58 73
Hfe4 56 12 52 73
Autosomal Dominant Hereditary Hemochromatosis 12 52 58
Hemochromatosis, Autosomal Dominant 56 52 54
Ferroportin Disease 12 52 58
Hemochromatosis Autosomal Dominant 73
Hemochromatosis 4 73

Characteristics:

Orphanet epidemiological data:

58
hemochromatosis type 4
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
hemochromatosis, type 4:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111028
OMIM 56 606069
OMIM Phenotypic Series 56 PS235200
SNOMED-CT 67 719975002
MESH via Orphanet 44 C537249
ICD10 via Orphanet 33 E83.1
UMLS via Orphanet 72 C1853733
Orphanet 58 ORPHA139491
MedGen 41 C1853733
UMLS 71 C1853733

Summaries for Hemochromatosis, Type 4

NIH Rare Diseases : 52 Hemochromatosis type 4 (also called ferroportin disease) 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 . Hemochromatosis type 4 can be further divided into two subtypes: Hemochromatosis type 4A Hemochromatosis type 4B People with hemochromatosis type 4A might not have any symptoms of the disease. Other individuals may develop liver disease as they get older. Hemochromatosis type 4B can be associated with fatigue , weakness, and joint pain . Other symptoms may include abdominal pain, loss of sex drive, liver disease , diabetes , heart problems, difficulty breathing, and skin discoloration. Symptoms of hemochromatosis type 4B can begin anytime from childhood to adulthood. Hemochromatosis type 4 is most common in people of southern European ancestry. Hemochromatosis type 4 is caused by genetic changes (mutations or pathogenic variants) to the SLC40A1 gene . The disease is inherited in an autosomal dominant manner. A diagnosis of hemochromatosis type 4 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 4B 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. People with hemochromatosis type 4A may not be recommended to have phlebotomy because it can increase the risk for complications such as anemia . To learn more about other types of hemochromatosis click on the disease names below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 5 Neonatal hemochromatosis

MalaCards based summary : Hemochromatosis, Type 4, also known as hemochromatosis type 4, is related to hemochromatosis, type 5 and hemochromatosis, type 3, and has symptoms including fatigue and arthralgia. An important gene associated with Hemochromatosis, Type 4 is SLC40A1 (Solute Carrier Family 40 Member 1), and among its related pathways/superpathways are Insulin receptor recycling and Metal ion SLC transporters. The drugs Iron and Hepcidins have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and pancreas, and related phenotypes are arthralgia and joint dislocation

Disease Ontology : 12 A hemochromatosis that has material basis in heterozygous mutation in the SLC40A1 gene on chromosome 2q32.

OMIM : 56 Hemochromatosis type 4 (HFE4) is a dominantly inherited iron overload disorder with heterogeneous phenotypic manifestations that can be classified into 2 groups. One group is characterized by an early rise in ferritin (see 134790) levels with low to normal transferrin (190000) saturation and iron accumulation predominantly in macrophages. The other group is similar to classical hemochromatosis, with high transferrin saturation and prominent parenchymal iron loading (summary by De Domenico et al., 2005). For general background information and a discussion of genetic heterogeneity of hereditary hemochromatosis, see 235200. (606069)

UniProtKB/Swiss-Prot : 73 Hemochromatosis 4: 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 : 74 Hemochromatosis type 4, is a hereditary iron overload disorder that affects ferroportin, an iron... more...

Related Diseases for Hemochromatosis, Type 4

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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 hemochromatosis, type 5 31.5 TFR2 HJV HFE ACO1
2 hemochromatosis, type 3 30.8 TMPRSS6 TFR2 SLC40A1 SLC11A2 HJV HFE
3 siderosis 29.5 TFR2 SLC40A1 HJV HFE HAMP
4 hemochromatosis type 2 29.3 TMPRSS6 TFR2 SLC40A1 SLC11A2 HJV HFE
5 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 29.3 TFR2 SLC11A2 HJV HFE HAMP
6 hemochromatosis, type 1 28.9 TMPRSS6 TFR2 STEAP3 SLC40A1 SLC11A2 HJV
7 hyperferritinemia with or without cataract 28.4 TFR2 SLC40A1 SLC11A2 HJV HFE HAMP
8 hemosiderosis 27.9 TFR2 SLC40A1 SLC11A2 HJV HFE HEPH
9 rare hereditary hemochromatosis 10.1
10 iron-refractory iron deficiency anemia 10.1 TMPRSS6 HJV
11 autosomal recessive disease 10.0
12 retinitis pigmentosa 50 9.9 HEPH CYBRD1
13 nutritional deficiency disease 9.9 TMPRSS6 HJV HAMP
14 arthropathy 9.9 HJV HFE HAMP
15 hepatocellular carcinoma 9.9
16 tfr2-related hereditary hemochromatosis 9.9
17 liver cirrhosis 9.9
18 cataract 9.9
19 hemoglobinopathy 9.8 TFR2 HJV HFE HAMP
20 erythrocytosis, familial, 2, autosomal recessive 9.8 CYBRD1 ACO1
21 anemia, congenital dyserythropoietic, type ia 9.8 HJV HAMP
22 inherited metabolic disorder 9.8 TFR2 HJV HFE HAMP
23 acute porphyria 9.8 HFE HAMP ACO1
24 hemochromatosis, type 2a 9.7 TFR2 SLC40A1 HJV HFE HAMP
25 hypochromic microcytic anemia with iron overload 9.7 STEAP3 SLC11A2
26 neurodegeneration with brain iron accumulation 3 9.7 SLC11A2 ACO1
27 porphyria cutanea tarda 9.5 TFR2 SLC40A1 HJV HFE HAMP CYBRD1
28 porphyria 9.5 TFR2 SLC40A1 HJV HFE HAMP CYBRD1
29 iron overload in africa 9.5 TFR2 SLC40A1 HJV HFE HEPH HAMP
30 thalassemia 9.4 TMPRSS6 TFR2 SLC40A1 HJV HFE HAMP
31 friedreich ataxia 9.4 SLC40A1 SLC11A2 HFE HAMP ACO1
32 sideroblastic anemia 9.3 TFR2 SLC40A1 HJV HFE HAMP ACO1
33 beta-thalassemia 9.2 TMPRSS6 TFR2 HJV HFE HAMP ACO1
34 iron deficiency anemia 8.9 TMPRSS6 TFR2 SLC40A1 SLC11A2 HJV HFE
35 atransferrinemia 8.9 TMPRSS6 TFR2 SLC40A1 SLC11A2 HJV HFE
36 hypochromic microcytic anemia 8.6 TMPRSS6 TFR2 STEAP3 SLC11A2 HJV HAMP
37 anemia, sideroblastic, 1 8.4 TMPRSS6 TFR2 STEAP3 SLC40A1 SLC11A2 HJV
38 metal metabolism disorder 8.2 TMPRSS6 TFR2 SLC40A1 SLC11A2 HJV HFE
39 iron metabolism disease 8.2 TMPRSS6 TFR2 SLC40A1 SLC11A2 HJV HFE
40 neurodegeneration with brain iron accumulation 7.8 TFR2 STEAP3 SLC40A1 SLC11A2 HJV HFE
41 microcytic anemia 7.6 TMPRSS6 TFR2 STEAP3 SLC40A1 SLC11A2 HJV
42 deficiency anemia 7.6 TMPRSS6 TFR2 STEAP3 SLC40A1 SLC11A2 HJV
43 aceruloplasminemia 7.6 TMPRSS6 TFR2 STEAP3 SLC40A1 SLC11A2 HJV

Graphical network of the top 20 diseases related to Hemochromatosis, Type 4:



Diseases related to Hemochromatosis, Type 4

Symptoms & Phenotypes for Hemochromatosis, Type 4

Human phenotypes related to Hemochromatosis, Type 4:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
2 joint dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001373
3 joint swelling 58 31 hallmark (90%) Very frequent (99-80%) HP:0001386
4 generalized hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007440
5 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376
6 increased serum ferritin 58 31 hallmark (90%) Very frequent (99-80%) HP:0003281
7 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
8 hepatic steatosis 58 31 frequent (33%) Frequent (79-30%) HP:0001397
9 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
10 congenital hepatic fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002612
11 cataract 31 HP:0000518
12 fatigue 31 HP:0012378
13 arrhythmia 31 HP:0011675
14 anemia 31 HP:0001903
15 glucose intolerance 31 HP:0001952
16 osteoarthritis 31 HP:0002758
17 impotence 31 HP:0000802
18 cardiomyopathy 31 HP:0001638
19 impaired glucose tolerance 31 HP:0040270

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
cataract

Cardiovascular Heart:
arrhythmia
cardiomyopathy

Genitourinary External Genitalia Male:
impotence

Endocrine Features:
impaired glucose tolerance
endocrine disorders

Skin Nails Hair Skin:
hyperpigmentation

Neurologic Behavioral Psychiatric Manifestations:
fatigue

Skeletal:
osteoarthritis
joint pains

Laboratory Abnormalities:
increased serum ferritin
increased transferrin saturation

Abdomen Liver:
fibrosis
iron overload involving parenchymal and mesenchymal cells
iron deposition in kupffer cells and portal macrophages

Hematology:
anemia, microcytic

Clinical features from OMIM:

606069

UMLS symptoms related to Hemochromatosis, Type 4:


fatigue, arthralgia

MGI Mouse Phenotypes related to Hemochromatosis, Type 4:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.65 ACO1 CYBRD1 HEPH HFE HJV SLC11A2
2 liver/biliary system MP:0005370 9.28 CYBRD1 HEPH HFE HJV SLC11A2 SLC40A1

Drugs & Therapeutics for Hemochromatosis, Type 4

Drugs for Hemochromatosis, Type 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved, Experimental Phase 2 15438-31-0, 7439-89-6 27284 23925
2 Hepcidins Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prospective, Comparative (5 Groups), Non-randomized, Multicenter, Physiopathological Study, Evaluating Pharmacokinetic Characteristics of Serum Hepcidin Level in Response to Iron Oral Intake in Order to Evaluate Their Interest to Discriminate Patients With Dysmetabolic Hepatosiderosis or Ferroportin Disease. Completed NCT01949467 Phase 2 iron fumarate

Search NIH Clinical Center for Hemochromatosis, Type 4

Cochrane evidence based reviews: hemochromatosis, type 4

Genetic Tests for Hemochromatosis, Type 4

Genetic tests related to Hemochromatosis, Type 4:

# Genetic test Affiliating Genes
1 Hemochromatosis Type 4 29 SLC40A1

Anatomical Context for Hemochromatosis, Type 4

MalaCards organs/tissues related to Hemochromatosis, Type 4:

40
Liver, Heart, Pancreas, Skin, Testes, Lung, Bone

Publications for Hemochromatosis, Type 4

Articles related to Hemochromatosis, Type 4:

(show all 37)
# Title Authors PMID Year
1
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. 56 54 6
11431687 2001
2
Genetic and clinical heterogeneity of ferroportin disease. 56 6
16351644 2005
3
Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. 6 56
11518736 2001
4
Screening for hemochromatosis: recommendation statement. 6
16880462 2006
5
Ferroportin (SLC40A1) gene in thalassemic patients of Indian descent. 6
16813613 2006
6
The molecular basis of ferroportin-linked hemochromatosis. 56
15956209 2005
7
Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations. 6
12730114 2003
8
Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3). 6
12406098 2002
9
A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4. 6
12123233 2002
10
Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis. 6
12091366 2002
11
Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). 6
12091367 2002
12
HFE Hemochromatosis 6
20301613 2000
13
Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. 56
10471458 1999
14
Current approach to hemochromatosis. 61 54
18430498 2008
15
Reduced iron export associated with hepcidin resistance can explain the iron overload spectrum in ferroportin disease. 61
32450003 2020
16
Disruption of the hepcidin/ferroportin regulatory circuitry causes low axial bone mass in mice. 61
32380257 2020
17
Inherited iron overload disorders. 61
32258529 2020
18
Air-blood barrier thickening and alterations of alveolar epithelial type 2 cells in mouse lungs with disrupted hepcidin/ferroportin regulatory system. 61
30280242 2019
19
Ferroportin disease mutations influence manganese accumulation and cytotoxicity. 61
30247984 2019
20
The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism. 61
30002125 2018
21
Deciphering the molecular basis of ferroportin resistance to hepcidin: Structure/function analysis of rare SLC40A1 missense mutations found in suspected hemochromatosis type 4 patients. 61
28826751 2017
22
Disruption of the Hepcidin/Ferroportin Regulatory System Causes Pulmonary Iron Overload and Restrictive Lung Disease. 61
28499927 2017
23
A Novel Phenotype of a Hereditary Hemochromatosis Type 4 with Ferroportin-1 Mutation, Presenting with Juvenile Cataracts. 61
27629970 2016
24
[Family with marked hyperferritinemia as a result of hemochromatosis type 4 (ferroportin disease)]. 61
25198087 2014
25
Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients. 61
24714983 2014
26
Resistance of ferroportin to hepcidin binding causes exocrine pancreatic failure and fatal iron overload. 61
25100063 2014
27
Structure-function analysis of the human ferroportin iron exporter (SLC40A1): effect of hemochromatosis type 4 disease mutations and identification of critical residues. 61
23784628 2013
28
Effect of ferroportin polymorphism on iron homeostasis and infection. 61
23178444 2013
29
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. 61
20648054 2010
30
Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutation. 54
19937651 2010
31
[Non-HFE-related hereditary iron overload]. 61
17540536 2007
32
SLC40A1 c.1402G-->a results in aberrant splicing, ferroportin truncation after glycine 330, and an autosomal dominant hemochromatosis phenotype. 54
18160816 2007
33
A novel ferroportin mutation in a Canadian family with autosomal dominant hemochromatosis. 54
16111902 2005
34
Primary iron overload with inappropriate hepcidin expression in V162del ferroportin disease. 61
15986403 2005
35
Hepcidin in iron overload disorders. 61
15671438 2005
36
[Genetics of hereditary iron overload]. 61
15506716 2004
37
Rare causes of hereditary iron overload. 61
12382200 2002

Variations for Hemochromatosis, Type 4

ClinVar genetic disease variations for Hemochromatosis, Type 4:

6 (show top 50) (show all 82) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC40A1 NM_014585.5(SLC40A1):c.1469G>A (p.Gly490Asp)SNV Pathogenic 406376 rs1060501102 2:190426851-190426851 2:189562125-189562125
2 SLC40A1 NM_014585.5(SLC40A1):c.544C>G (p.Gln182Glu)SNV Pathogenic 488155 rs1553493479 2:190430296-190430296 2:189565570-189565570
3 SLC40A1 NM_014585.5(SLC40A1):c.479T>C (p.Val160Ala)SNV Pathogenic 488151 rs1553494286 2:190436476-190436476 2:189571750-189571750
4 SLC40A1 NM_014585.5(SLC40A1):c.-205A>CSNV Pathogenic 488156 rs1553495699 2:190445391-190445391 2:189580665-189580665
5 SLC40A1 NM_014585.5(SLC40A1):c.541G>A (p.Asp181Asn)SNV Pathogenic 488152 rs1553493481 2:190430299-190430299 2:189565573-189565573
6 SLC40A1 NM_014585.5(SLC40A1):c.1049C>A (p.Ala350Asp)SNV Pathogenic 488154 rs1553493234 2:190428663-190428663 2:189563937-189563937
7 SLC40A1 NM_014585.5(SLC40A1):c.1481G>A (p.Gly494Asp)SNV Pathogenic 488153 rs1553492997 2:190426839-190426839 2:189562113-189562113
8 SLC40A1 NM_014585.6(SLC40A1):c.533G>A (p.Arg178Gln)SNV Pathogenic 839124 2:190430307-190430307 2:189565581-189565581
9 SLC40A1 NM_014585.5(SLC40A1):c.430A>C (p.Asn144His)SNV Pathogenic 5410 rs104893662 2:190436525-190436525 2:189571799-189571799
10 SLC40A1 NM_014585.5(SLC40A1):c.230C>A (p.Ala77Asp)SNV Pathogenic 5411 rs28939076 2:190439928-190439928 2:189575202-189575202
11 SLC40A1 NM_014585.5(SLC40A1):c.470A>G (p.Asp157Gly)SNV Pathogenic 5412 rs104893663 2:190436485-190436485 2:189571759-189571759
12 SLC40A1 NM_014585.5(SLC40A1):c.546G>T (p.Gln182His)SNV Pathogenic 5413 rs104893670 2:190430294-190430294 2:189565568-189565568
13 SLC40A1 NM_014585.5(SLC40A1):c.476_478TTG[3] (p.Val162del)short repeat Pathogenic 5414 2:190436468-190436470 2:189571742-189571744
14 SLC40A1 NM_014585.5(SLC40A1):c.968G>T (p.Gly323Val)SNV Pathogenic 5415 rs104893671 2:190428744-190428744 2:189564018-189564018
15 SLC40A1 NM_014585.5(SLC40A1):c.542A>T (p.Asp181Val)SNV Pathogenic 5416 rs104893672 2:190430298-190430298 2:189565572-189565572
16 SLC40A1 NM_014585.5(SLC40A1):c.239G>T (p.Gly80Val)SNV Pathogenic 5417 rs104893673 2:190439919-190439919 2:189575193-189575193
17 SLC40A1 NM_014585.5(SLC40A1):c.800G>A (p.Gly267Asp)SNV Pathogenic 5418 rs104893664 2:190428912-190428912 2:189564186-189564186
18 SLC40A1 NM_014585.5(SLC40A1):c.809A>T (p.Asp270Val)SNV Pathogenic 208987 rs368420430 2:190428903-190428903 2:189564177-189564177
19 SLC40A1 NP_055400.1(SLC40A1):p.Gln248Hisprotein only Pathogenic 208986
20 SLC40A1 NM_014585.5(SLC40A1):c.610G>A (p.Gly204Ser)SNV Likely pathogenic 56158 rs387907377 2:190430230-190430230 2:189565504-189565504
21 SLC40A1 NM_014585.5(SLC40A1):c.474G>T (p.Trp158Cys)SNV Likely pathogenic 568628 rs1423207026 2:190436481-190436481 2:189571755-189571755
22 SLC40A1 NM_014585.5(SLC40A1):c.1570G>A (p.Val524Ile)SNV Conflicting interpretations of pathogenicity 333162 rs142456282 2:190426750-190426750 2:189562024-189562024
23 SLC40A1 NM_014585.5(SLC40A1):c.524C>A (p.Ala175Asp)SNV Uncertain significance 406375 rs1060501101 2:190430316-190430316 2:189565590-189565590
24 SLC40A1 NM_014585.5(SLC40A1):c.289G>A (p.Val97Met)SNV Uncertain significance 333172 rs886055361 2:190437670-190437670 2:189572944-189572944
25 SLC40A1 NM_014585.5(SLC40A1):c.-344C>GSNV Uncertain significance 333182 rs747058400 2:190445530-190445530 2:189580804-189580804
26 SLC40A1 NM_014585.5(SLC40A1):c.-253C>ASNV Uncertain significance 333178 rs886055363 2:190445439-190445439 2:189580713-189580713
27 SLC40A1 NM_014585.5(SLC40A1):c.-31C>GSNV Uncertain significance 333176 rs753784669 2:190445217-190445217 2:189580491-189580491
28 SLC40A1 NM_014585.5(SLC40A1):c.-201T>GSNV Uncertain significance 333177 rs886055362 2:190445387-190445387 2:189580661-189580661
29 SLC40A1 NM_014585.5(SLC40A1):c.1483G>A (p.Val495Ile)SNV Uncertain significance 333164 rs763188298 2:190426837-190426837 2:189562111-189562111
30 SLC40A1 NM_014585.5(SLC40A1):c.1520A>G (p.His507Arg)SNV Uncertain significance 216680 rs863224768 2:190426800-190426800 2:189562074-189562074
31 SLC40A1 NM_014585.5(SLC40A1):c.476_478TTG[5] (p.Val162dup)short repeat Uncertain significance 240919 rs878854984 2:190436467-190436468 2:189571741-189571742
32 SLC40A1 NM_014585.5(SLC40A1):c.430A>T (p.Asn144Tyr)SNV Uncertain significance 240918 rs104893662 2:190436525-190436525 2:189571799-189571799
33 SLC40A1 NM_014585.5(SLC40A1):c.957del (p.Met319fs)deletion Uncertain significance 631836 rs1559010409 2:190428755-190428755 2:189564029-189564029
34 SLC40A1 NM_014585.6(SLC40A1):c.365C>T (p.Thr122Ile)SNV Uncertain significance 843706 2:190437594-190437594 2:189572868-189572868
35 SLC40A1 NM_014585.6(SLC40A1):c.271+6T>ASNV Uncertain significance 855912 2:190439881-190439881 2:189575155-189575155
36 SLC40A1 NM_014585.6(SLC40A1):c.695C>A (p.Ala232Asp)SNV Uncertain significance 801842 2:190430145-190430145 2:189565419-189565419
37 SLC40A1 NM_014585.6(SLC40A1):c.1384G>A (p.Val462Ile)SNV Uncertain significance 809126 2:190428328-190428328 2:189563602-189563602
38 SLC40A1 NM_014585.6(SLC40A1):c.*1187T>GSNV Uncertain significance 896702 2:190425417-190425417 2:189560691-189560691
39 SLC40A1 NM_014585.6(SLC40A1):c.*1000A>TSNV Uncertain significance 896703 2:190425604-190425604 2:189560878-189560878
40 SLC40A1 NM_014585.6(SLC40A1):c.*128A>GSNV Uncertain significance 897158 2:190426476-190426476 2:189561750-189561750
41 SLC40A1 NM_014585.6(SLC40A1):c.1035G>A (p.Leu345=)SNV Uncertain significance 898325 2:190428677-190428677 2:189563951-189563951
42 SLC40A1 NM_014585.6(SLC40A1):c.546G>A (p.Gln182=)SNV Uncertain significance 895347 2:190430294-190430294 2:189565568-189565568
43 SLC40A1 NM_014585.6(SLC40A1):c.235A>G (p.Ile79Val)SNV Uncertain significance 896758 2:190439923-190439923 2:189575197-189575197
44 SLC40A1 NM_014585.6(SLC40A1):c.92G>A (p.Gly31Asp)SNV Uncertain significance 896759 2:190444558-190444558 2:189579832-189579832
45 SLC40A1 NM_014585.6(SLC40A1):c.-28A>TSNV Uncertain significance 897236 2:190445214-190445214 2:189580488-189580488
46 SLC40A1 NM_014585.6(SLC40A1):c.-147A>GSNV Uncertain significance 897237 2:190445333-190445333 2:189580607-189580607
47 SLC40A1 NM_014585.6(SLC40A1):c.272-14C>TSNV Uncertain significance 896757 2:190437701-190437701 2:189572975-189572975
48 SLC40A1 NM_014585.5(SLC40A1):c.*646C>TSNV Uncertain significance 333156 rs886055359 2:190425958-190425958 2:189561232-189561232
49 SLC40A1 NM_014585.5(SLC40A1):c.*309G>ASNV Uncertain significance 333158 rs886055360 2:190426295-190426295 2:189561569-189561569
50 SLC40A1 NM_014585.6(SLC40A1):c.1357A>T (p.Ile453Phe)SNV Likely benign 898324 2:190428355-190428355 2:189563629-189563629

UniProtKB/Swiss-Prot genetic disease variations for Hemochromatosis, Type 4:

73 (show all 12)
# Symbol AA change Variation ID SNP ID
1 SLC40A1 p.Ala77Asp VAR_022594 rs28939076
2 SLC40A1 p.Asn144His VAR_022595 rs104893662
3 SLC40A1 p.Asp157Gly VAR_022596 rs104893663
4 SLC40A1 p.Gln182His VAR_022598 rs104893670
5 SLC40A1 p.Gly323Val VAR_022599 rs104893671
6 SLC40A1 p.Tyr64Asn VAR_030057 rs128565330
7 SLC40A1 p.Gly80Val VAR_030059 rs104893673
8 SLC40A1 p.Asn144Asp VAR_030060
9 SLC40A1 p.Asn144Thr VAR_030061 rs143410165
10 SLC40A1 p.Asp181Val VAR_030063 rs104893672
11 SLC40A1 p.Gly267Asp VAR_030064 rs104893664
12 SLC40A1 p.Asp270Val VAR_030065 rs368420430

Expression for Hemochromatosis, Type 4

Search GEO for disease gene expression data for Hemochromatosis, Type 4.

Pathways for Hemochromatosis, Type 4

GO Terms for Hemochromatosis, Type 4

Cellular components related to Hemochromatosis, Type 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.9 TMPRSS6 TFR2 STEAP3 SLC40A1 SLC11A2 NEMP2
2 cell GO:0005623 9.32 TMPRSS6 TFR2 SLC40A1 SLC11A2 HJV HFE
3 basal part of cell GO:0045178 9.26 SLC11A2 HFE
4 HFE-transferrin receptor complex GO:1990712 9.13 TFR2 HJV HFE

Biological processes related to Hemochromatosis, Type 4 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.91 STEAP3 SLC40A1 SLC11A2 HFE HEPH
2 iron ion transport GO:0006826 9.62 TFR2 SLC40A1 SLC11A2 HEPH
3 acute-phase response GO:0006953 9.58 TFR2 HFE HAMP
4 multicellular organismal iron ion homeostasis GO:0060586 9.56 SLC40A1 SLC11A2 HFE HAMP
5 iron ion homeostasis GO:0055072 9.56 TMPRSS6 TFR2 STEAP3 SLC40A1 SLC11A2 HJV
6 response to iron ion GO:0010039 9.55 TFR2 SLC11A2 HFE HAMP CYBRD1
7 liver regeneration GO:0097421 9.54 HFE HAMP
8 transferrin transport GO:0033572 9.54 TFR2 STEAP3 HFE
9 copper ion transport GO:0006825 9.52 SLC11A2 HEPH
10 positive regulation of peptide hormone secretion GO:0090277 9.49 TFR2 HFE
11 iron ion transmembrane transport GO:0034755 9.48 SLC40A1 SLC11A2
12 cellular response to iron ion GO:0071281 9.46 TFR2 HFE
13 response to iron ion starvation GO:1990641 9.43 HFE HAMP
14 cellular iron ion homeostasis GO:0006879 9.32 TMPRSS6 TFR2 SLC40A1 SLC11A2 HJV HFE

Molecular functions related to Hemochromatosis, Type 4 according to GeneCards Suite gene sharing:

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

Sources for Hemochromatosis, Type 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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