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

HFE2A MCID: HMC021 MIFTS: 41	Hemochromatosis, Type 2a (HFE2A) Categories: Cardiovascular diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes 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 ⁷⁰

Hemochromatosis Type 2a ¹² ²⁹ ⁶ ¹⁵

Hfe2a ⁵⁷ ¹² ⁷²

Juvenile Hemochromatosis ⁷² ⁷⁰

Hemochromatosis Type 2 ⁷²

Hemochromatosis 2a ⁷²

Hefe2 ⁷²

Jh ⁷²

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

Miscellaneous:
onset is usually before age 30

HPO:

³¹

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

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Skin diseases Cardiovascular diseases Liver diseases Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111027

OMIM® ⁵⁷ 602390

OMIM Phenotypic Series ⁵⁷ PS235200

MeSH ⁴⁴ D006432

MedGen ⁴¹ C0268060 C1865614

UMLS ⁷⁰ C0268060 C1865614

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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) (Updated 05-Apr-2021)

MalaCards based summary : Hemochromatosis, Type 2a, also known as hemochromatosis type 2a, is related to hemochromatosis, type 3 and hemochromatosis, type 4, 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 are TGF-beta signaling pathway (KEGG) and Hfe effect on hepcidin production. Affiliated tissues include heart, and related phenotypes are hepatomegaly and cirrhosis

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 : ⁷² 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 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 2a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)

#	Related Disease	Score	Top Affiliating Genes
1	hemochromatosis, type 3	31.9	HJV HAMP
2	hemochromatosis, type 4	31.9	HJV HAMP
3	rare hereditary hemochromatosis	31.2	HJV HAMP
4	hemosiderosis	31.1	HJV HAMP
5	iron metabolism disease	30.3	HJV HAMP
6	arthropathy	30.2	HJV HAMP
7	hemochromatosis type 2	30.1	HJV HAMP
8	hemochromatosis, neonatal	11.1
9	hemochromatosis, type 5	11.1
10	hemochromatosis, type 2b	11.0
11	hypogonadism	10.5
12	autosomal recessive disease	10.4
13	hypogonadotropic hypogonadism	10.3
14	liver cirrhosis	10.2
15	iron overload in africa	10.2	HJV HAMP
16	atransferrinemia	10.2	HJV HAMP
17	hyperferritinemia with or without cataract	10.2	HJV HAMP
18	hypochromic microcytic anemia	10.2	HJV HAMP
19	microcytic anemia	10.2	HJV HAMP
20	anemia, congenital dyserythropoietic, type ia	10.1	HJV HAMP
21	amenorrhea	10.1
22	congestive heart failure	10.1
23	metal metabolism disorder	10.1	HJV HAMP
24	iron deficiency anemia	10.1	HJV HAMP
25	nutritional deficiency disease	10.1	HJV HAMP
26	anemia, sideroblastic, 1	10.1	HJV HAMP
27	dowling-degos disease 1	10.1
28	porphyria cutanea tarda	10.1	HJV HAMP
29	porphyria	10.1	HJV HAMP
30	hemoglobinopathy	10.0	HJV HAMP
31	atrial standstill 1	10.0
32	impotence	10.0
33	tfr2-related hereditary hemochromatosis	10.0
34	thalassemia	10.0
35	hemochromatosis, type 1	9.9
36	hypothyroidism, congenital, nongoitrous, 1	9.9	GPR89B GPR89A
37	aceruloplasminemia	9.9	HJV HAMP
38	thrombocytopenia-absent radius syndrome	9.9	GPR89B GPR89A
39	brooke-spiegler syndrome	9.9	GPR89B GPR89A
40	hepatocellular carcinoma	9.8
41	hashimoto thyroiditis	9.8
42	osteoporosis	9.8
43	bone mineral density quantitative trait locus 8	9.8
44	diabetes mellitus, ketosis-prone	9.8
45	bone mineral density quantitative trait locus 15	9.8
46	beta-thalassemia	9.8
47	deficiency anemia	9.8
48	bone resorption disease	9.8
49	non-alcoholic steatohepatitis	9.8
50	siderosis	9.8

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

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Symptoms & Phenotypes for Hemochromatosis, Type 2a

Human phenotypes related to Hemochromatosis, Type 2a:

³¹ (show all 16)

#	Description	HPO Frequency	HPO Source Accession
1	hepatomegaly ³¹	very rare (1%)	HP:0002240
2	cirrhosis ³¹	very rare (1%)	HP:0001394
3	cardiomyopathy ³¹	very rare (1%)	HP:0001638
4	increased serum iron ³¹	very rare (1%)	HP:0003452
5	hypogonadotropic hypogonadism ³¹	very rare (1%)	HP:0000044
6	increased circulating ferritin concentration ³¹	very rare (1%)	HP:0003281
7	splenomegaly ³¹		HP:0001744
8	arthritis ³¹		HP:0001369
9	congestive heart failure ³¹		HP:0001635
10	dilated cardiomyopathy ³¹		HP:0001644
11	arrhythmia ³¹		HP:0011675
12	azoospermia ³¹		HP:0000027
13	infertility ³¹		HP:0000789
14	lethargy ³¹		HP:0001254
15	amenorrhea ³¹		HP:0000141
16	hyperpigmentation of the skin ³¹		HP:0000953

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Abdomen Spleen:
splenomegaly

Skeletal:
arthritis

Genitourinary Internal Genitalia Male:
azoospermia
infertility

Genitourinary External Genitalia Male:
hypogonadism

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

Muscle Soft Tissue:
weakness

Abdomen Liver:
hepatomegaly
cirrhosis
fibrosis

Cardiovascular Heart:
arrhythmia
heart failure
cardiomyopathy, dilated

Neurologic Behavioral Psychiatric Manifestations:
lethargy

Genitourinary External Genitalia Female:
hypogonadism

Genitourinary Internal Genitalia Female:
amenorrhea

Skin Nails Hair Skin:
hyperpigmentation

Clinical features from OMIM®:

602390 (Updated 05-Apr-2021)

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:

⁴⁰

Heart

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Publications for Hemochromatosis, Type 2a

Articles related to Hemochromatosis, Type 2a:

(show all 29)

#	Title	Authors	PMID	Year
1	Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome. ⁶ ⁵⁷	Brakensiek K...Stuhrmann M	19796184	2009
2	Early age-of-onset iron overload and homozygosity for the novel hemojuvelin mutation HJV R54X (exon 3; c.160A-->T) in an African American male of West Indies descent. ⁶ ⁵⁷	Murugan RC...Barton JC	18492090	2008
3	HJV gene mutations in European patients with juvenile hemochromatosis. ⁶ ⁵⁷	Gehrke SG...Stremmel W	15811010	2005
4	Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. ⁵⁷ ⁶	Lanzara C...Camaschella C	14982873	2004
5	Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. ⁵⁷ ⁶	Papanikolaou G...Goldberg YP	14647275	2004
6	Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population. ⁵⁷ ⁶	Rivard SR...Gasparini P	12891378	2003
7	Molecular diagnostic and pathogenesis of hereditary hemochromatosis. ⁶	Santos PC...Pereira AC	22408404	2012
8	Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl. ⁶	Aguilar-Martinez P...Rochette J	17339196	2007
9	Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population. ⁶	Barton JC...Acton RT	15610558	2004
10	Identification of a novel mutation (C321X) in HJV. ⁶	Huang FW...Fleming MD	15138164	2004
11	Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis. ⁶	Lee PL...Beutler E	15461631	2004
12	The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype. ⁶	Le Gac G...Ferec C	15254010	2004
13	Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. ⁶	Lee PL...Barton JC	14982867	2004
14	Genetic heterogeneity underlies juvenile hemochromatosis phenotype: analysis of three families of northern Greek origin. ⁵⁷	Papanikolaou G...Christakis JI	12490283	2002
15	Juvenile hemochromatosis in the southeastern United States: a report of seven cases in two kinships. ⁶	Barton JC...Acton RT	12482411	2002
16	Natural history of juvenile haemochromatosis. ⁵⁷	De Gobbi M...Camaschella C	12060140	2002
17	Juvenile hemochromatosis locus maps to chromosome 1q. ⁵⁷	Roetto A...Camaschella C	10205270	1999
18	Juvenile genetic hemochromatosis is clinically and genetically distinct from the classical HLA-related disorder. ⁵⁷	Cazzola M...Bergamaschi G	9763590	1998
19	Hereditary juvenile haemochromatosis: a genetically heterogeneous life-threatening iron-storage disease. ⁵⁷	Kelly AL...Cox TM	10024915	1998
20	Juvenile and adult hemochromatosis are distinct genetic disorders. ⁵⁷	Camaschella C...Gasparini P	9450181	1997
21	Hereditary hemochromatosis in children, adolescents, and young adults. ⁵⁷	Haddy TB...Rana SR	3056060	1988
22	Juvenile idiopathic haemochromatosis: a life-threatening disorder presenting as hypogonadotropic hypogonadism. ⁵⁷	Cazzola M...Werner EE	6418636	1983
23	Idiopathic hemochromatosis in a young female. A case study and review of the syndrome in young people. ⁵⁷	Lamon JM...Donnelly S	758139	1979
24	Hemochromatosis in two young sisters. Case studies and a family survey. ⁵⁷	Felts JH...Spurr CL	6028643	1967
25	Idiopathic hemochromatosis in young subjects. Clinical, pathological, and chemical findings in four patients. ⁵⁷	Charlton RW...Bothwell TH	6019566	1967
26	IDIOPATHIC HAEMOCHROMATOSIS IN CHILDREN; REPORT OF A FAMILY. ⁵⁷	PERKINS KW...BEAL RW	14314226	1965
27	Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism. ⁶¹	Santiago de Sousa Azulay R...Dos Santos Faria M	32327622	2020
28	Molecular evolution of hemojuvelin and the repulsive guidance molecule family. ⁶¹	Camus LM...Lambert LA	17593421	2007
29	Gene symbol: HFE2a (HJV). Disease: juvenile hemochromatosis. ⁶¹	Klomp C...Engel H	16521298	2005

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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	PubMed IDs
1	HJV	Hemojuvelin BMP Co-Receptor	Protein Coding	1350.72	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Summaries Variants (show sections)	14647275
2	HAMP	Hepcidin Antimicrobial Peptide	Protein Coding	7.16	GeneCards inferred via : Variants (show sections)
3	STK32B	Serine/Threonine Kinase 32B	Protein Coding	6.92	DISEASES inferred ¹⁵
4	NBPF9	NBPF Member 9	Protein Coding	6.87	DISEASES inferred ¹⁵
5	GPR89A	G Protein-Coupled Receptor 89A	Protein Coding	6.83	DISEASES inferred ¹⁵
6	GPR89B	G Protein-Coupled Receptor 89B	Protein Coding	6.83	DISEASES inferred ¹⁵
7	FMO5	Flavin Containing Dimethylaniline Monoxygenase 5	Protein Coding	6.8	DISEASES inferred ¹⁵
8	ACP6	Acid Phosphatase 6, Lysophosphatidic	Protein Coding	6.63	DISEASES inferred ¹⁵

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Variations for Hemochromatosis, Type 2a

ClinVar genetic disease variations for Hemochromatosis, Type 2a:

⁶ (show top 50) (show all 71)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	HJV	NM_213653.3(HJV):c.665T>A (p.Ile222Asn)	SNV	Pathogenic	2367	rs74315325	GRCh37: 1:145416320-145416320 GRCh38: 1:146018693-146018693
2	HJV	NM_145277.5(HJV):c.-102T>C	SNV	Pathogenic	2369	rs28940586	GRCh37: 1:145415419-145415419 GRCh38: 1:146019594-146019594
3	HJV	NM_145277.5(HJV):c.624C>A (p.Cys208Ter)	SNV	Pathogenic	2371	rs121434374	GRCh37: 1:145416618-145416618 GRCh38: 1:146018395-146018395
4	HJV	NM_145277.5(HJV):c.641_642TC[1] (p.Ser215fs)	Microsatellite	Pathogenic	2372	rs786205063	GRCh37: 1:145416634-145416637 GRCh38: 1:146018373-146018376
5	HJV	NM_145277.5(HJV):c.-180A>T	SNV	Pathogenic	2373	rs121434375	GRCh37: 1:145415341-145415341 GRCh38: 1:146019672-146019672
6	HJV	NC_000001.10:g.(?_145414693)_(145417545_?)del	Deletion	Pathogenic	417403		GRCh37: 1:145414693-145417545 GRCh38:
7	HJV	NM_213653.3(HJV):c.1006G>T (p.Gly336Ter)	SNV	Pathogenic	560162	rs1553769428	GRCh37: 1:145416661-145416661 GRCh38: 1:146018352-146018352
8	HJV	NM_145277.5(HJV):c.358del (p.Gln120fs)	Deletion	Pathogenic	590920	rs1559279177	GRCh37: 1:145416352-145416352 GRCh38: 1:146018661-146018661
9	HJV	NM_213653.3(HJV):c.959G>T (p.Gly320Val)	SNV	Pathogenic	2365	rs74315323	GRCh37: 1:145416614-145416614 GRCh38: 1:146018399-146018399
10	HJV	NM_145277.5(HJV):c.503T>C (p.Ile168Thr)	SNV	Pathogenic	2368	rs74315326	GRCh37: 1:145416497-145416497 GRCh38: 1:146018516-146018516
11	overlap with 4 genes	NC_000001.10:g.(?_145414782)_(145474819_?)del	Deletion	Pathogenic	583553		GRCh37: 1:145414782-145474819 GRCh38:
12	HJV	NM_145277.5(HJV):c.-38T>C	SNV	Pathogenic	2370	rs74315327	GRCh37: 1:145415483-145415483 GRCh38: 1:146019530-146019530
13	HJV	NM_213653.4(HJV):c.-89-1G>C	SNV	Pathogenic	1031845		GRCh37: 1:145414692-145414692 GRCh38: 1:146020321-146020321
14	HJV	NM_213653.3(HJV):c.238T>G (p.Cys80Gly)	SNV	Likely pathogenic	216012	rs28940586	GRCh37: 1:145415419-145415419 GRCh38: 1:146019594-146019594
15	HJV	NM_213653.3(HJV):c.497A>G (p.His166Arg)	SNV	Conflicting interpretations of pathogenicity	545472	rs1553769663	GRCh37: 1:145415678-145415678 GRCh38: 1:146019335-146019335
16	HJV	NM_213653.3(HJV):c.749G>T (p.Gly250Val)	SNV	Uncertain significance	216847	rs863224819	GRCh37: 1:145416404-145416404 GRCh38: 1:146018609-146018609
17	HJV	NM_213653.3(HJV):c.1264T>C (p.Trp422Arg)	SNV	Uncertain significance	216846	rs863224818	GRCh37: 1:145416919-145416919 GRCh38: 1:146018094-146018094
18	overlap with 4 genes	NC_000001.10:g.(?_145414782)_(145474819_?)dup	Duplication	Uncertain significance	583737		GRCh37: 1:145414782-145474819 GRCh38:
19	HJV	NM_213653.3(HJV):c.432C>G (p.Ala144=)	SNV	Uncertain significance	536406	rs139401358	GRCh37: 1:145415613-145415613 GRCh38: 1:146019400-146019400
20	HJV	NM_213653.3(HJV):c.904G>A (p.Glu302Lys)	SNV	Uncertain significance	658524	rs143496559	GRCh37: 1:145416559-145416559 GRCh38: 1:146018454-146018454
21	HJV	NM_213653.4(HJV):c.977G>A (p.Arg326Gln)	SNV	Uncertain significance	874084		GRCh37: 1:145416632-145416632 GRCh38: 1:146018381-146018381
22	HJV	NM_213653.4(HJV):c.994C>T (p.Arg332Cys)	SNV	Uncertain significance	874085		GRCh37: 1:145416649-145416649 GRCh38: 1:146018364-146018364
23	HJV	NM_213653.3(HJV):c.1004G>A (p.Arg335Gln)	SNV	Uncertain significance	664777	rs377109351	GRCh37: 1:145416659-145416659 GRCh38: 1:146018354-146018354
24	HJV	NM_213653.4(HJV):c.1084G>A (p.Val362Ile)	SNV	Uncertain significance	874086		GRCh37: 1:145416739-145416739 GRCh38: 1:146018274-146018274
25	HJV	NM_213653.4(HJV):c.170G>A (p.Gly57Asp)	SNV	Uncertain significance	874964		GRCh37: 1:145415351-145415351 GRCh38: 1:146019662-146019662
26	HJV	NM_213653.4(HJV):c.*190G>A	SNV	Uncertain significance	875016		GRCh37: 1:145417126-145417126 GRCh38: 1:146017887-146017887
27	HJV	NM_213653.4(HJV):c.*197G>A	SNV	Uncertain significance	875017		GRCh37: 1:145417133-145417133 GRCh38: 1:146017880-146017880
28	HJV	NM_213653.4(HJV):c.*198G>A	SNV	Uncertain significance	875018		GRCh37: 1:145417134-145417134 GRCh38: 1:146017879-146017879
29	HJV	NM_213653.4(HJV):c.*372A>G	SNV	Uncertain significance	875019		GRCh37: 1:145417308-145417308 GRCh38: 1:146017705-146017705
30	HJV	NM_213653.4(HJV):c.*574A>T	SNV	Uncertain significance	875020		GRCh37: 1:145417510-145417510 GRCh38: 1:146017503-146017503
31	HJV	NM_213653.4(HJV):c.510C>T (p.Phe170=)	SNV	Uncertain significance	875889		GRCh37: 1:145415691-145415691 GRCh38: 1:146019322-146019322
32	HJV	NM_213653.4(HJV):c.597C>T (p.Leu199=)	SNV	Uncertain significance	875890		GRCh37: 1:145415778-145415778 GRCh38: 1:146019235-146019235
33	HJV	NM_213653.4(HJV):c.780A>G (p.Gly260=)	SNV	Uncertain significance	876886		GRCh37: 1:145416435-145416435 GRCh38: 1:146018578-146018578
34	HJV	NM_213653.3(HJV):c.792G>C (p.Ser264=)	SNV	Uncertain significance	536407	rs35710964	GRCh37: 1:145416447-145416447 GRCh38: 1:146018566-146018566
35	HJV	NM_213653.4(HJV):c.819T>C (p.His273=)	SNV	Uncertain significance	876887		GRCh37: 1:145416474-145416474 GRCh38: 1:146018539-146018539
36	HJV	NM_213653.4(HJV):c.841A>T (p.Ile281Phe)	SNV	Uncertain significance	876888		GRCh37: 1:145416496-145416496 GRCh38: 1:146018517-146018517
37	HJV	NM_213653.4(HJV):c.885C>T (p.Ser295=)	SNV	Uncertain significance	876889		GRCh37: 1:145416540-145416540 GRCh38: 1:146018473-146018473
38	HJV	NM_213653.3(HJV):c.1113C>T (p.Pro371=)	SNV	Uncertain significance	292432	rs886045239	GRCh37: 1:145416768-145416768 GRCh38: 1:146018245-146018245
39	HJV	NM_213653.3(HJV):c.522T>C (p.His174=)	SNV	Uncertain significance	292426	rs587646422	GRCh37: 1:145415703-145415703 GRCh38: 1:146019310-146019310
40	HJV	NM_213653.3(HJV):c.-203C>T	SNV	Uncertain significance	292416	rs781908480	GRCh37: 1:145413313-145413313 GRCh38: 1:146021700-146021700
41	HJV	NM_213653.3(HJV):c.*288A>C	SNV	Uncertain significance	292435	rs886045241	GRCh37: 1:145417224-145417224 GRCh38: 1:146017789-146017789
42	HJV	NM_213653.3(HJV):c.201A>C (p.Gly67=)	SNV	Uncertain significance	292421	rs782445206	GRCh37: 1:145415382-145415382 GRCh38: 1:146019631-146019631
43	HJV	NM_213653.3(HJV):c.409G>A (p.Gly137Ser)	SNV	Uncertain significance	292424	rs587719388	GRCh37: 1:145415590-145415590 GRCh38: 1:146019423-146019423
44	HAMP	NM_021175.3(HAMP):c.-67G>C	SNV	Uncertain significance	328835	rs886054342	GRCh37: 19:35773414-35773414 GRCh38: 19:35282511-35282511
45	HJV	NM_213653.3(HJV):c.559G>T (p.Val187Phe)	SNV	Uncertain significance	292427	rs886045238	GRCh37: 1:145415740-145415740 GRCh38: 1:146019273-146019273
46	HJV	NM_145277.5(HJV):c.361_363del (p.Lys121del)	Deletion	Uncertain significance	639262	rs1553769521	GRCh37: 1:145416353-145416355 GRCh38: 1:146018656-146018658
47	HJV	NM_213653.3(HJV):c.442T>A (p.Cys148Ser)	SNV	Uncertain significance	662092	rs782741141	GRCh37: 1:145415623-145415623 GRCh38: 1:146019390-146019390
48	HJV	NC_000001.11:g.146021819C>T	SNV	Uncertain significance	874028		GRCh37: 1:145413194-145413194 GRCh38: 1:146021819-146021819
49	HJV	NC_000001.11:g.146021778A>G	SNV	Uncertain significance	874029		GRCh37: 1:145413235-145413235 GRCh38: 1:146021778-146021778
50	HJV	NC_000001.11:g.146021740G>A	SNV	Uncertain significance	874030		GRCh37: 1:145413273-145413273 GRCh38: 1:146021740-146021740

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

⁷² (show all 14)

#	Symbol	AA change	Variation ID	SNP ID
1	HJV	p.Cys80Arg	VAR_019617	rs28940586
2	HJV	p.Ser85Pro	VAR_019618	rs155376975
3	HJV	p.Gly99Arg	VAR_019619	rs155376974
4	HJV	p.Leu101Pro	VAR_019620	rs74315327
5	HJV	p.Ala168Asp	VAR_019621	rs782125244
6	HJV	p.Phe170Ser	VAR_019622	rs155376965
7	HJV	p.Asp172Glu	VAR_019623	rs782708481
8	HJV	p.Trp191Cys	VAR_019624	rs155376963
9	HJV	p.Ser205Arg	VAR_019625	rs155376962
10	HJV	p.Ile222Asn	VAR_019626	rs74315325
11	HJV	p.Gly250Val	VAR_019627	rs863224819
12	HJV	p.Arg288Trp	VAR_019628	rs782493762
13	HJV	p.Gly320Val	VAR_019629	rs74315323
14	HJV	p.Cys321Trp	VAR_019927	rs121434374

Sources

Expression for Hemochromatosis, Type 2a

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

Sources

Pathways for Hemochromatosis, Type 2a

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

#	Super pathways	Score	Top Affiliating Genes
1	TGF-beta signaling pathway (KEGG) ³⁶	10.93	HJV HAMP
2	Hfe effect on hepcidin production ¹	9.47	HJV HAMP

Sources

GO Terms for Hemochromatosis, Type 2a

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

#	Name	GO ID	Score	Top Affiliating Genes
1	Golgi cisterna membrane	GO:0032580	8.62	GPR89B GPR89A

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

#	Name	GO ID	Score	Top Affiliating Genes
1	cellular iron ion homeostasis	GO:0006879	9.32	HJV HAMP
2	T cell differentiation	GO:0030217	9.26	GPR89B GPR89A
3	iron ion homeostasis	GO:0055072	9.16	HJV HAMP
4	inorganic anion transport	GO:0015698	8.96	GPR89B GPR89A
5	intracellular pH reduction	GO:0051452	8.62	GPR89B GPR89A

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

#	Name	GO ID	Score	Top Affiliating Genes
1	voltage-gated anion channel activity	GO:0008308	8.62	GPR89B GPR89A

Sources

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 EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

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 NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Hemochromatosis, Type 2a (HFE2A)

Aliases & Classifications for Hemochromatosis, Type 2a

MalaCards integrated aliases for Hemochromatosis, Type 2a:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Hemochromatosis, Type 2a

Related Diseases for Hemochromatosis, Type 2a

Diseases in the Rare Hereditary Hemochromatosis family:

Diseases related to Hemochromatosis, Type 2a via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Hemochromatosis, Type 2a

Human phenotypes related to Hemochromatosis, Type 2a:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Hemochromatosis, Type 2a:

Drugs & Therapeutics for Hemochromatosis, Type 2a

Genetic Tests for Hemochromatosis, Type 2a

Genetic tests related to Hemochromatosis, Type 2a:

Anatomical Context for Hemochromatosis, Type 2a

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

Publications for Hemochromatosis, Type 2a

Articles related to Hemochromatosis, Type 2a:

Genes for Hemochromatosis, Type 2a

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

Variations for Hemochromatosis, Type 2a

ClinVar genetic disease variations for Hemochromatosis, Type 2a:

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

Expression for Hemochromatosis, Type 2a

Pathways for Hemochromatosis, Type 2a

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

GO Terms for Hemochromatosis, Type 2a

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

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

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

Sources for Hemochromatosis, Type 2a