MCID: HFH001
MIFTS: 23

Hfe Hemochromatosis, Modifier of malady

Genetic diseases (common) category
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Summaries for Hfe Hemochromatosis, Modifier of

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MalaCards based summary: Hfe Hemochromatosis, Modifier of is related to hfe-associated hereditary hemochromatosis and iron deficiency anemia. An important gene associated with Hfe Hemochromatosis, Modifier of is BMP2 (bone morphogenetic protein 2), and among its related pathways is Signaling by BMP. The compounds iron and ascorbic acid have been mentioned in the context of this disorder. Related mouse phenotype homeostasis/metabolism.

Description from OMIM:46 235200

Aliases & Classifications for Hfe Hemochromatosis, Modifier of

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Hfe Hemochromatosis, Modifier of, Aliases & Descriptions:

Name: Hfe Hemochromatosis, Modifier of 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Related Diseases for Hfe Hemochromatosis, Modifier of

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Graphical network of diseases related to Hfe Hemochromatosis, Modifier of:



Diseases related to hfe hemochromatosis, modifier of

Symptoms for Hfe Hemochromatosis, Modifier of

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Clinical features from OMIM:

235200

Drugs & Therapeutics for Hfe Hemochromatosis, Modifier of

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Drug clinical trials:

Search ClinicalTrials for Hfe Hemochromatosis, Modifier of

Search NIH Clinical Center for Hfe Hemochromatosis, Modifier of

Genetic Tests for Hfe Hemochromatosis, Modifier of

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Anatomical Context for Hfe Hemochromatosis, Modifier of

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Animal Models for Hfe Hemochromatosis, Modifier of or affiliated genes

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MGI Mouse Phenotypes related to Hfe Hemochromatosis, Modifier of:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.5HFE, HFE2, BMP2

Publications for Hfe Hemochromatosis, Modifier of

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Variations for Hfe Hemochromatosis, Modifier of

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UniProtKB/Swiss-Prot genetic disease variations for Hfe Hemochromatosis, Modifier of:

64 (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 Hfe Hemochromatosis, Modifier of:

6
id Gene Name 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 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
7HFENM_000410.3(HFE): c.848A> C (p.Gln283Pro)single nucleotide variantPathogenicrs111033563GRCh37Chr 6, 26093144: 26093144
8HFE2NM_213653.3(HFE2): c.959G> T (p.Gly320Val)single nucleotide variantPathogenicrs74315323GRCh37Chr 1, 145416614: 145416614
9HFE2NM_213653.3(HFE2): c.963C> A (p.Cys321Ter)single nucleotide variantPathogenicrs121434374GRCh37Chr 1, 145416618: 145416618
10HFENM_000410.3(HFE): c.845G> A (p.Cys282Tyr)single nucleotide variantPathogenic, confers sensitivity, risk factorrs1800562GRCh37Chr 6, 26093141: 26093141

Expression for genes affiliated with Hfe Hemochromatosis, Modifier of

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Expression patterns in normal tissues for genes affiliated with Hfe Hemochromatosis, Modifier of

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Pathways for genes affiliated with Hfe Hemochromatosis, Modifier of

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Pathways related to Hfe Hemochromatosis, Modifier of according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
BMP receptor signaling37
BMP signalling and regulation37
BMP Signalling Pathway37
9.3HFE2, BMP2

Compounds for genes affiliated with Hfe Hemochromatosis, Modifier of

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Sources:
44Novoseek, 24HMDB, 61Tocris Bioscience, 11DrugBank, 28IUPHAR
See all sources

Compounds related to Hfe Hemochromatosis, Modifier of according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1iron44 2410.1HFE, HFE2
2ascorbic acid44 2410.1BMP2, HFE
3oligonucleotide449.0BMP2, HFE
4testosterone44 61 24 1111.9BMP2, HFE
5cholesterol44 28 24 1111.7HFE, BMP2

GO Terms for genes affiliated with Hfe Hemochromatosis, Modifier of

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Cellular components related to Hfe Hemochromatosis, Modifier of according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:0099869.3HFE2, BMP2

Biological processes related to Hfe Hemochromatosis, Modifier of according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of transcription from RNA polymerase II promoterGO:0459449.3HFE2, BMP2
2BMP signaling pathwayGO:0305099.0HFE2, BMP2

Molecular functions related to Hfe Hemochromatosis, Modifier of according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor bindingGO:0051029.0HFE, BMP2

Products for genes affiliated with Hfe Hemochromatosis, Modifier of

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  • Antibodies
  • Proteins
  • Lysates

Sources for Hfe Hemochromatosis, Modifier of

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet