Hemochromatosis, Type 2a disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: HMC021 MIFTS: 40	Hemochromatosis, Type 2a Categories: Genetic diseases, Metabolic diseases, Rare diseases, Liver diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Hemochromatosis, Type 2a

MalaCards integrated aliases for Hemochromatosis, Type 2a:

Name: Hemochromatosis, Type 2a ⁵⁷ ¹³ ⁷³

Hemochromatosis Type 2a ¹² ²⁹ ⁶

Hfe2a ⁵⁷ ¹² ⁷⁵

Juvenile Hemochromatosis ⁷⁵ ⁷³

Hemochromatosis Type 2 ⁷⁵

Hemochromatosis 2a ⁷⁵

Hefe2 ⁷⁵

Jh ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset is usually before age 30

HPO:

³²

hemochromatosis, type 2a:
Onset and clinical course young adult onset
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Liver diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 602390

Disease Ontology ¹² DOID:0111027

MedGen ⁴² C1865614 C0268060

MeSH ⁴⁴ D006432

UMLS ⁷³ C1865614 C0268060

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Summaries for Hemochromatosis, Type 2a

OMIM : ⁵⁷ Juvenile, or type 2, hemochromatosis is an autosomal recessive inborn error of iron metabolism that leads to severe iron loading and organ failure before 30 years of age. The common complications of iron overload, including liver cirrhosis, cardiac disease, endocrine failure, diabetes, arthropathy, and skin pigmentation, are similar to those of adult-onset hereditary hemochromatosis, but hypogonadism and cardiomyopathy are the most common symptoms at presentation. Heart failure and/or major arrhythmias are usually the cause of death in the absence of treatment. Early detection of the disorder is important because iron depletion by phlebotomy can prevent organ damage and all disease manifestations (summary by Roetto et al., 1999). (602390)

MalaCards based summary : Hemochromatosis, Type 2a, also known as hemochromatosis type 2a, is related to hemochromatosis type 2 and hemochromatosis, type 1, and has symptoms including lethargy and weakness. An important gene associated with Hemochromatosis, Type 2a is HJV (Hemojuvelin BMP Co-Receptor), and among its related pathways/superpathways is Hfe effect on hepcidin production. Affiliated tissues include skin, heart and liver, and related phenotypes are azoospermia and hypogonadotrophic hypogonadism

Disease Ontology : ¹² A hemochromatosis type 2 that has material basis in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21.

UniProtKB/Swiss-Prot : ⁷⁵ Hemochromatosis 2A: A juvenile form of hemochromatosis, a disorder of iron metabolism with excess deposition of iron in a variety of organs leading to their failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of juvenile hemochromatosis at presentation are hypogonadism and cardiomyopathy.

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Related Diseases for Hemochromatosis, Type 2a

Diseases in the Juvenile 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 2a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)

#	Related Disease	Score	Top Affiliating Genes
1	hemochromatosis type 2	33.1	HAMP HJV
2	hemochromatosis, type 1	30.3	HAMP HJV
3	cleft lip/palate with abnormal thumbs and microcephaly	11.2
4	hemochromatosis, type 2b	11.0
5	juvenile hereditary hemochromatosis	11.0
6	hemochromatosis, neonatal	11.0
7	hemochromatosis, type 3	11.0
8	hemochromatosis, type 4	11.0
9	hemochromatosis, type 5	11.0
10	lymphoma	10.0
11	leukemia	9.9
12	combined immunodeficiency, x-linked	9.8
13	severe combined immunodeficiency	9.8
14	hypermobility syndrome	9.8
15	leukemia, chronic lymphocytic 2	9.7
16	ehlers-danlos syndrome, hypermobility type	9.7
17	leukemia, chronic lymphocytic	9.7
18	pneumothorax, primary spontaneous	9.7
19	myeloma, multiple	9.7
20	severe combined immunodeficiency, x-linked	9.7
21	persistent polyclonal b-cell lymphocytosis	9.7
22	leukemia, acute lymphoblastic	9.7
23	b-cell expansion with nfkb and t-cell anergy	9.7
24	b-cell lymphomas	9.7
25	diffuse large b-cell lymphoma	9.7
26	follicular lymphoma	9.7
27	mantle cell lymphoma	9.7
28	heavy chain disease	9.7
29	lymphoblastic leukemia	9.7
30	ehlers-danlos syndrome	9.7
31	pneumothorax	9.7
32	richter's syndrome	9.7
33	thyroid cancer	9.7
34	mutism	9.7
35	thyroiditis	9.7
36	macroglobulinemia	9.7
37	hypermobile ehlers-danlos syndrome	9.7
38	leukemia, b-cell, chronic	9.7
39	differentiated thyroid carcinoma	9.7
40	alpha-heavy chain disease	9.7
41	metal metabolism disorder	9.6	HAMP HJV
42	atransferrinemia	9.6	HAMP HJV
43	nutritional deficiency disease	9.5	HAMP HJV
44	iron deficiency anemia	9.5	HAMP HJV
45	inherited metabolic disorder	9.4	HAMP HJV
46	aceruloplasminemia	9.3	HAMP HJV
47	deficiency anemia	9.0	HAMP HJV

Graphical network of the top 20 diseases related to Hemochromatosis, Type 2a:

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Symptoms & Phenotypes for Hemochromatosis, Type 2a

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skeletal:
arthritis

Abdomen Liver:
hepatomegaly
cirrhosis
fibrosis

Genitourinary External Genitalia Male:
hypogonadism

GenitourinaryInternal GenitaliaMale:
azoospermia
infertility

Laboratory Abnormalities:
increased serum ferritin
increased serum iron
increased transferrin saturation
increased transaminase values

Skin Nails Hair Skin:
hyperpigmentation

AbdomenSpleen:
splenomegaly

Cardiovascular Heart:
arrhythmia
heart failure
cardiomyopathy, dilated

Genitourinary External Genitalia Female:
hypogonadism

Neurologic Behavioral Psychiatric Manifestations:
lethargy

Genitourinary Internal Genitalia Female:
amenorrhea

Muscle Soft Tissue:
weakness

Clinical features from OMIM:

602390

Human phenotypes related to Hemochromatosis, Type 2a:

³² (show all 16)

#	Description	HPO Frequency	HPO Source Accession
1	azoospermia ³²		HP:0000027
2	hypogonadotrophic hypogonadism ³²	very rare (1%)	HP:0000044
3	amenorrhea ³²		HP:0000141
4	infertility ³²		HP:0000789
5	hyperpigmentation of the skin ³²		HP:0000953
6	lethargy ³²		HP:0001254
7	arthritis ³²		HP:0001369
8	cirrhosis ³²	very rare (1%)	HP:0001394
9	congestive heart failure ³²		HP:0001635
10	cardiomyopathy ³²	very rare (1%)	HP:0001638
11	dilated cardiomyopathy ³²		HP:0001644
12	splenomegaly ³²		HP:0001744
13	hepatomegaly ³²	very rare (1%)	HP:0002240
14	increased serum ferritin ³²	very rare (1%)	HP:0003281
15	increased serum iron ³²	very rare (1%)	HP:0003452
16	arrhythmia ³²		HP:0011675

UMLS symptoms related to Hemochromatosis, Type 2a:

lethargy, weakness

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Drugs & Therapeutics for Hemochromatosis, Type 2a

Search Clinical Trials , NIH Clinical Center for Hemochromatosis, Type 2a

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Genetic Tests for Hemochromatosis, Type 2a

Genetic tests related to Hemochromatosis, Type 2a:

#	Genetic test	Affiliating Genes
1	Hemochromatosis Type 2a ²⁹	HJV

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Anatomical Context for Hemochromatosis, Type 2a

MalaCards organs/tissues related to Hemochromatosis, Type 2a:

⁴¹

Skin, Heart, Liver

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Publications for Hemochromatosis, Type 2a

Articles related to Hemochromatosis, Type 2a:

(show all 33)

#	Title	Authors	Year
1	Iron Overload in the Liver of 2 Children: Nonalcoholic Steatohepatitis and Juvenile Hemochromatosis. ( 28067690 )	A9nlA1soy Aksu A....DalgiAs B.	2017
2	Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV gene. ( 28363629 )	Ramzan K....Sulaiman R.A.	2017
3	HAMP Gene Mutation Associated with Juvenile Hemochromatosis in Brazilian Patients. ( 27007796 )	Fonseca P.F....Santos P.C.	2016
4	Increased Retinal Expression of the Pro-Angiogenic Receptor GPR91 via BMP6 in a Mouse Model of Juvenile Hemochromatosis. ( 27046124 )	Arjunan P....Ganapathy V.	2016
5	TFR2 mutations in patients with juvenile hemochromatosis phenotype. ( 26408288 )	Ravasi G....Piperno A.	2015
6	Juvenile hemochromatosis associated with heterozygosity for novel hemojuvelin mutations and with unknown cofactors. ( 25152992 )	Pelusi S....Valenti L.	2014
7	A late presentation of a fatal disease: juvenile hemochromatosis. ( 24106505 )	Cherfane C....Brown K.	2013
8	Identification of a novel mutation in the HAMP gene that causes non-detectable hepcidin molecules in a Japanese male patient with juvenile hemochromatosis. ( 22297252 )	Hattori A....Wakusawa S.	2012
9	Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome. ( 19796184 )	Brakensiek K....Stuhrmann M.	2009
10	Deferasirox reduces iron overload in a murine model of juvenile hemochromatosis. ( 19234060 )	Nick H....O'Reilly T.	2009
11	Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis. ( 17264300 )	Silvestri L....Camaschella C.	2007
12	Molecular mechanism of hepcidin deficiency in a patient with juvenile hemochromatosis. ( 17229647 )	Rideau A....Beris P.	2007
13	Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl. ( 17339196 )	Aguilar-Martinez P....Rochette J.	2007
14	Glucose metabolism, insulin secretion and insulin sensitivity in juvenile hemochromatosis. A case report and review of the literature. ( 17427110 )	Angelopoulos N....Tolis G.	2007
15	A juvenile hemochromatosis patient homozygous for a novel deletion of cDNA nucleotide 81 of hemojuvelin. ( 16424663 )	Lee P....Beutler E.	2006
16	Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes. ( 15685557 )	Pietrangelo A....Garuti C.	2005
17	HJV gene mutations in European patients with juvenile hemochromatosis. ( 15811010 )	Gehrke S.G....Stremmel W.	2005
18	A mouse model of juvenile hemochromatosis. ( 16075059 )	Huang F.W....Andrews N.C.	2005
19	Juvenile hemochromatosis due to G320V/Q116X compound heterozygosity of hemojuvelin in an Irish patient. ( 15967692 )	Daraio F....Camaschella C.	2005
20	Homozygosity for a novel nonsense mutation (G66X) of the HJV gene causes severe juvenile hemochromatosis with fatal cardiomyopathy. ( 15611318 )	JA!nosi A....Tordai A.	2005
21	Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. ( 14982867 )	Lee P.L....Barton J.C.	2004
22	A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis. ( 15099344 )	Delatycki M.B....Samuels M.E.	2004
23	Prevalence of the G320V mutation of the HJV gene, associated with juvenile hemochromatosis, in Greece. ( 15194541 )	Pissia M....Papanikolaou G.	2004
24	Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R). ( 14630809 )	Roetto A....Camaschella C.	2004
25	Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. ( 14647275 )	Papanikolaou G....Goldberg Y.P.	2004
26	Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. ( 14982873 )	Lanzara C....Camaschella C.	2004
27	Juvenile hemochromatosis HJV-related revealed by cardiogenic shock. ( 15315789 )	Filali M....Gimenez-Roqueplo A.P.	2004
28	Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. ( 12469120 )	Roetto A....Camaschella C.	2003
29	Juvenile hemochromatosis in a Spanish family. ( 12064925 )	Montes-Cano M....NA_A+ez-RoldA!n A.	2002
30	Juvenile hemochromatosis. ( 12382199 )	Camaschella C....De Gobbi M.	2002
31	Linkage to chromosome 1q in Greek families with juvenile hemochromatosis. ( 11778658 )	Papanikolaou G....Loukopoulos D.	2001
32	Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, canada). ( 10772871 )	Rivard S.R....De Braekeleer M.	2000
33	Juvenile hemochromatosis locus maps to chromosome 1q. ( 10205270 )	Roetto A....Camaschella C.	1999

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Genes for Hemochromatosis, Type 2a

Genes related to Hemochromatosis, Type 2a (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HJV	Hemojuvelin BMP Co-Receptor	Protein Coding	1328.78	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Summaries Variants (show sections)	14647275 20301349 15138164 (more) 12482411 15461631 15254010 15811010 18492090 12891378 14982873 19796184
2	HAMP	Hepcidin Antimicrobial Peptide	Protein Coding	17.61	GeneCards inferred via : Variants (show sections)

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Variations for Hemochromatosis, Type 2a

UniProtKB/Swiss-Prot genetic disease variations for Hemochromatosis, Type 2a:

⁷⁵ (show all 14)

#	Symbol	AA change	Variation ID	SNP ID
1	HJV	p.Cys80Arg	VAR_019617	rs28940586
2	HJV	p.Ser85Pro	VAR_019618
3	HJV	p.Gly99Arg	VAR_019619
4	HJV	p.Leu101Pro	VAR_019620	rs74315327
5	HJV	p.Ala168Asp	VAR_019621	rs782125244
6	HJV	p.Phe170Ser	VAR_019622
7	HJV	p.Asp172Glu	VAR_019623	rs782708481
8	HJV	p.Trp191Cys	VAR_019624
9	HJV	p.Ser205Arg	VAR_019625
10	HJV	p.Ile222Asn	VAR_019626	rs74315325
11	HJV	p.Gly250Val	VAR_019627	rs863224819
12	HJV	p.Arg288Trp	VAR_019628
13	HJV	p.Gly320Val	VAR_019629	rs74315323
14	HJV	p.Cys321Trp	VAR_019927	rs121434374

ClinVar genetic disease variations for Hemochromatosis, Type 2a:

⁶

(show all 42)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	HJV	NM_213653.3(HJV): c.959G> T (p.Gly320Val)	single nucleotide variant	Pathogenic	rs74315323	GRCh37	Chromosome 1, 145416614: 145416614
2	HJV	NM_213653.3(HJV): c.959G> T (p.Gly320Val)	single nucleotide variant	Pathogenic	rs74315323	GRCh38	Chromosome 1, 146018399: 146018399
3	HJV	NM_213653.3(HJV): c.976C> T (p.Arg326Ter)	single nucleotide variant	Pathogenic	rs74315324	GRCh37	Chromosome 1, 145416631: 145416631
4	HJV	NM_213653.3(HJV): c.976C> T (p.Arg326Ter)	single nucleotide variant	Pathogenic	rs74315324	GRCh38	Chromosome 1, 146018382: 146018382
5	HJV	NM_213653.3(HJV): c.665T> A (p.Ile222Asn)	single nucleotide variant	Pathogenic	rs74315325	GRCh37	Chromosome 1, 145416320: 145416320
6	HJV	NM_213653.3(HJV): c.665T> A (p.Ile222Asn)	single nucleotide variant	Pathogenic	rs74315325	GRCh38	Chromosome 1, 146018693: 146018693
7	HJV	NM_213653.3(HJV): c.842T> C (p.Ile281Thr)	single nucleotide variant	Pathogenic	rs74315326	GRCh37	Chromosome 1, 145416497: 145416497
8	HJV	NM_213653.3(HJV): c.842T> C (p.Ile281Thr)	single nucleotide variant	Pathogenic	rs74315326	GRCh38	Chromosome 1, 146018516: 146018516
9	HJV	NM_213653.3(HJV): c.238T> C (p.Cys80Arg)	single nucleotide variant	Pathogenic	rs28940586	GRCh37	Chromosome 1, 145415419: 145415419
10	HJV	NM_213653.3(HJV): c.238T> C (p.Cys80Arg)	single nucleotide variant	Pathogenic	rs28940586	GRCh38	Chromosome 1, 146019594: 146019594
11	HJV	NM_213653.3(HJV): c.302T> C (p.Leu101Pro)	single nucleotide variant	Pathogenic	rs74315327	GRCh37	Chromosome 1, 145415483: 145415483
12	HJV	NM_213653.3(HJV): c.302T> C (p.Leu101Pro)	single nucleotide variant	Pathogenic	rs74315327	GRCh38	Chromosome 1, 146019530: 146019530
13	HJV	NM_213653.3(HJV): c.963C> A (p.Cys321Ter)	single nucleotide variant	Pathogenic	rs121434374	GRCh37	Chromosome 1, 145416618: 145416618
14	HJV	NM_213653.3(HJV): c.963C> A (p.Cys321Ter)	single nucleotide variant	Pathogenic	rs121434374	GRCh38	Chromosome 1, 146018395: 146018395
15	HJV	NM_213653.3(HJV): c.982_985delTCTC (p.Ser328Aspfs)	deletion	Pathogenic	rs786205063	GRCh37	Chromosome 1, 145416637: 145416640
16	HJV	NM_213653.3(HJV): c.982_985delTCTC (p.Ser328Aspfs)	deletion	Pathogenic	rs786205063	GRCh38	Chromosome 1, 146018373: 146018376
17	HJV	NM_213653.3(HJV): c.160A> T (p.Arg54Ter)	single nucleotide variant	Pathogenic	rs121434375	GRCh37	Chromosome 1, 145415341: 145415341
18	HJV	NM_213653.3(HJV): c.160A> T (p.Arg54Ter)	single nucleotide variant	Pathogenic	rs121434375	GRCh38	Chromosome 1, 146019672: 146019672
19	HJV	NM_213653.3(HJV): c.1264T> C (p.Trp422Arg)	single nucleotide variant	Uncertain significance	rs863224818	GRCh38	Chromosome 1, 146018094: 146018094
20	HJV	NM_213653.3(HJV): c.1264T> C (p.Trp422Arg)	single nucleotide variant	Uncertain significance	rs863224818	GRCh37	Chromosome 1, 145416919: 145416919
21	HJV	NM_213653.3(HJV): c.749G> T (p.Gly250Val)	single nucleotide variant	Uncertain significance	rs863224819	GRCh37	Chromosome 1, 145416404: 145416404
22	HJV	NM_213653.3(HJV): c.749G> T (p.Gly250Val)	single nucleotide variant	Uncertain significance	rs863224819	GRCh38	Chromosome 1, 146018609: 146018609
23	HJV	NM_213653.3(HJV): c.238T> G (p.Cys80Gly)	single nucleotide variant	Likely pathogenic	rs28940586	GRCh38	Chromosome 1, 146019594: 146019594
24	HJV	NM_213653.3(HJV): c.238T> G (p.Cys80Gly)	single nucleotide variant	Likely pathogenic	rs28940586	GRCh37	Chromosome 1, 145415419: 145415419
25	HJV	NM_213653.3(HJV): c.204_206dupAGG (p.Gly69_Arg70insGly)	duplication	Likely benign	rs864622168	GRCh37	Chromosome 1, 145415385: 145415387
26	HJV	NM_213653.3(HJV): c.204_206dupAGG (p.Gly69_Arg70insGly)	duplication	Likely benign	rs864622168	GRCh38	Chromosome 1, 146019626: 146019628
27	HJV	NM_213653.3(HJV): c.98-6C> G	single nucleotide variant	Benign/Likely benign	rs56025621	GRCh38	Chromosome 1, 146019740: 146019740
28	HJV	NM_213653.3(HJV): c.98-6C> G	single nucleotide variant	Benign/Likely benign	rs56025621	GRCh37	Chromosome 1, 145415273: 145415273
29	HJV	NM_213653.3(HJV): c.9G> C (p.Glu3Asp)	single nucleotide variant	Benign	rs12025510	GRCh38	Chromosome 1, 146020223: 146020223
30	HJV	NM_213653.3(HJV): c.9G> C (p.Glu3Asp)	single nucleotide variant	Benign	rs12025510	GRCh37	Chromosome 1, 145414790: 145414790
31	HJV	NM_213653.3(HJV): c.929C> G (p.Ala310Gly)	single nucleotide variant	Benign/Likely benign	rs7540883	GRCh38	Chromosome 1, 146018429: 146018429
32	HJV	NM_213653.3(HJV): c.929C> G (p.Ala310Gly)	single nucleotide variant	Benign/Likely benign	rs7540883	GRCh37	Chromosome 1, 145416584: 145416584
33	HJV	NC_000001.10: g.(?_145414693)_(145417545_?)del	deletion	Pathogenic		GRCh37	Chromosome 1, 145414693: 145417545
34	HJV	NM_213653.3(HJV): c.305C> T (p.Ala102Val)	single nucleotide variant	Uncertain significance	rs782681137	GRCh38	Chromosome 1, 146019527: 146019527
35	HJV	NM_213653.3(HJV): c.305C> T (p.Ala102Val)	single nucleotide variant	Uncertain significance	rs782681137	GRCh37	Chromosome 1, 145415486: 145415486
36	HJV	NC_000001.10: g.(?_145414776)_(145416941_?)dup	duplication	Uncertain significance		GRCh37	Chromosome 1, 145414776: 145416941
37	HJV	NM_213653.3(HJV): c.792G> C (p.Ser264=)	single nucleotide variant	Benign	rs35710964	GRCh38	Chromosome 1, 146018566: 146018566
38	HJV	NM_213653.3(HJV): c.792G> C (p.Ser264=)	single nucleotide variant	Benign	rs35710964	GRCh37	Chromosome 1, 145416447: 145416447
39	HJV	NM_213653.3(HJV): c.432C> G (p.Ala144=)	single nucleotide variant	Likely benign	rs139401358	GRCh38	Chromosome 1, 146019400: 146019400
40	HJV	NM_213653.3(HJV): c.432C> G (p.Ala144=)	single nucleotide variant	Likely benign	rs139401358	GRCh37	Chromosome 1, 145415613: 145415613
41	HJV	NM_213653.3(HJV): c.497A> G (p.His166Arg)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 1, 146019335: 146019335
42	HJV	NM_213653.3(HJV): c.497A> G (p.His166Arg)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 1, 145415678: 145415678

Sources

Expression for Hemochromatosis, Type 2a

Search GEO for disease gene expression data for Hemochromatosis, Type 2a.

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Pathways for Hemochromatosis, Type 2a

Pathways related to Hemochromatosis, Type 2a according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Hfe effect on hepcidin production ¹	9.47	HAMP HJV

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GO Terms for Hemochromatosis, Type 2a

Biological processes related to Hemochromatosis, Type 2a according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of transcription by RNA polymerase II	GO:0000122	8.96	HAMP HJV
2	cellular iron ion homeostasis	GO:0006879	8.62	HAMP HJV

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Sources for Hemochromatosis, Type 2a

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia