ECYT7
MCID: ERY065
MIFTS: 31

Erythrocytosis, Familial, 7 (ECYT7)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Erythrocytosis, Familial, 7

MalaCards integrated aliases for Erythrocytosis, Familial, 7:

Name: Erythrocytosis, Familial, 7 58 6
Erythrocytosis, Alpha-Globin Type 58
Polycythemia, Alpha-Globin Type 58
Erythrocytosis, 7 58
Erythrocytosis 7 58
Ecyt7 58

Classifications:



External Ids:

OMIM 58 617981

Summaries for Erythrocytosis, Familial, 7

OMIM : 58 Familial erythrocytosis-7 is characterized by an increased oxygen affinity of hemoglobin (Hb), which results in decreased delivery of oxygen into the peripheral tissues and compensatory polycythemia. Patients are generally asymptomatic, as compensatory polycythemia assures normal oxygen tissue delivery. Patients have normal red cell morphology (summary by Kralovics and Prchal, 2000). Wajcman and Galacteros (2005) noted that although high oxygen affinity hemoglobins are usually well tolerated in young patients, they can lead to thrombotic complications in older patients or when they are associated with another cause that increases thrombotic risk. Wajcman and Galacteros (2005) also noted that the effect of increased oxygen affinity of Hb caused by an alpha chain variant is usually milder than that caused by a beta chain variant (see 617980). (617981)

MalaCards based summary : Erythrocytosis, Familial, 7, also known as erythrocytosis, alpha-globin type, is related to alpha-thalassemia/mental retardation syndrome, chromosome 16-related and alpha-thalassemia. An important gene associated with Erythrocytosis, Familial, 7 is HBA1 (Hemoglobin Subunit Alpha 1), and among its related pathways/superpathways are Binding and Uptake of Ligands by Scavenger Receptors and Malaria. Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Erythrocytosis, Familial, 7

Graphical network of the top 20 diseases related to Erythrocytosis, Familial, 7:



Diseases related to Erythrocytosis, Familial, 7

Symptoms & Phenotypes for Erythrocytosis, Familial, 7

Clinical features from OMIM:

617981

GenomeRNAi Phenotypes related to Erythrocytosis, Familial, 7 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.91 HBA1 HBA2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.91 HBA1 HBA2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.91 HBA1 HBA2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.7 HBA1 HBA2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.7 HBA1 HBA2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.7 HBA1 HBA2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.7 HBA1 HBA2

Drugs & Therapeutics for Erythrocytosis, Familial, 7

Search Clinical Trials , NIH Clinical Center for Erythrocytosis, Familial, 7

Genetic Tests for Erythrocytosis, Familial, 7

Anatomical Context for Erythrocytosis, Familial, 7

Publications for Erythrocytosis, Familial, 7

Articles related to Erythrocytosis, Familial, 7:

(show all 29)
# Title Authors Year
1
Hb Inkster [alpha85(F6)Asp-->Val] found in a caucasian male with polycythemia. ( 11186265 )
2000
2
Hb Sassari [alpha 126(H9)Asp-->His] results from a GAC-->CAC mutation in the alpha 1-globin gene. ( 9494049 )
1998
3
HB Swan River [alpha 6(A4)ASP-->Gly] observed in a Japanese man. ( 8745434 )
1996
4
A second case of Hb Hanamaki [alpha 2 139(HC1)Lys->Glu beta 2] in an American family with erythrocytosis. ( 7928378 )
1994
5
Functional alterations in adult and fetal hemoglobin Sassari Asp-alpha 126(H9)-->His. The role of alpha 1 alpha 2 contact. ( 7518430 )
1994
6
Hemoglobinopathies in Sardinia. ( 1517114 )
1992
7
Hb Kanagawa [alpha 40(C5)Lys----Met]: a new alpha chain variant with an increased oxygen affinity. ( 1634355 )
1992
8
A new alpha chain variant, Hb Hanamaki or alpha 2(139)(HC1)Lys----Glu beta 2, found in a Japanese family. ( 1634363 )
1992
9
Hb Ethiopia or alpha 2(140)(HC2)Tyr----His beta 2. ( 1428951 )
1992
10
Two new human hemoglobin variants caused by unusual mutational events: Hb Zaïre contains a five residue repetition within the alpha-chain and Hb Duino has two residues substituted in the beta-chain. ( 1511986 )
1992
11
Hemoglobin Columbia Missouri or alpha 2[88 (F9) Ala----Val]beta 2: a new high-oxygen-affinity hemoglobin that causes erythrocytosis. ( 1988759 )
1991
12
Locus assignment of human alpha-globin structural mutants by selective enzymatic amplification of alpha 1 and alpha 2-globin cDNAs. ( 2227935 )
1990
13
Functional and NMR studies of Hb Sassari (Asp-126 alpha----His); role of the inter-subunit contacts in the affinity control of human hemoglobin. ( 2268670 )
1990
14
Locus assignment of two alpha-globin structural mutants from the Caribbean basin: alpha Fort de France (alpha 45 Arg) and alpha Spanish Town (alpha 27 Val). ( 2752146 )
1989
15
Increased oxygen affinity with normal heterotropic effects in hemoglobin Loire [alpha 88(F9)Ala----Ser]. ( 3142772 )
1988
16
Hb Sassari or alpha (2)126(H9)Asp---His beta 2 observed in a family from Northern Sardinia. ( 3667323 )
1987
17
Hemoglobin Swan River [alpha 6(A4)Asp----Gly]. ( 3583768 )
1987
18
The haematological puzzle of Hb J Cape Town is partly solved. ( 3718876 )
1986
19
Hemoglobin Tokoname [alpha 139 (HC 1) Lys leads to Thr]: a new hemoglobin variant with a slightly increased oxygen affinity. ( 6188720 )
1983
20
Hemoglobin Milledgeville (alpha 44 (CD2) Pro leads to Leu): a new variant with increased oxygen affinity. ( 7213661 )
1980
21
Hemoglobin Legnano (alpha2 141 (HC3) Arg replaced by Leu beta2): a new abnormal human hemoglobin with high oxygen affinity. ( 701083 )
1978
22
Hemoglobin Suresnes in a Costa Rican woman of Spanish-Indian ancestry. ( 701092 )
1978
23
Structural and functional studies of haemoglobin Suresnes or alpha2 141 (HC3) Arg replaced by His beta2, a new high oxygen affinity mutant. ( 11123 )
1976
24
Two new hemoglobins. Hemoglobin Alabama (beta39(C5)Gln leads to Lys) and hemoglobin Montgomery (alpha 48(CD 6) Leu leads to Arg). ( 1115799 )
1975
25
Haemoglobin inkster (alpha2 85aspartic acid leads to valine beta2) coexisting with beta-thalassaemia in a Caucasian family. ( 4212045 )
1974
26
Multiple alpha chain loci for human haemoglobins: Hb J-Buda and Hb G-Pest. ( 4550395 )
1972
27
Polycythemia associated with a hemoglobinopathy. ( 5913291 )
1966
28
Abnormal human haemoglobins. Separation and characterization of the alpha and beta chains by chromatography, and the determination of two new variants, hb Chesapeak and hb J (Bangkok). ( 5967288 )
1966
29
Hemoglobin J Cape Town-alpha-2 92 arginine replaced by glutamine beta-2. ( 5988206 )
1966

Variations for Erythrocytosis, Familial, 7

ClinVar genetic disease variations for Erythrocytosis, Familial, 7:

6 (show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 HBA2 NM_000517.6(HBA2): c.266C> T (p.Ala89Val) single nucleotide variant Pathogenic rs33983416 GRCh37 Chromosome 16, 223294: 223294
2 HBA2 NM_000517.6(HBA2): c.266C> T (p.Ala89Val) single nucleotide variant Pathogenic rs33983416 GRCh38 Chromosome 16, 173295: 173295
3 HBA2 NM_000517.6(HBA2): c.186G> C (p.Lys62Asn) single nucleotide variant Pathogenic rs33985574 GRCh37 Chromosome 16, 223214: 223214
4 HBA2 NM_000517.6(HBA2): c.186G> C (p.Lys62Asn) single nucleotide variant Pathogenic rs33985574 GRCh38 Chromosome 16, 173215: 173215
5 HBA2 NM_000517.6(HBA2): c.257A> T (p.Asp86Val) single nucleotide variant Likely benign rs41331747 GRCh37 Chromosome 16, 223285: 223285
6 HBA2 NM_000517.6(HBA2): c.257A> T (p.Asp86Val) single nucleotide variant Likely benign rs41331747 GRCh38 Chromosome 16, 173286: 173286
7 HBA2 NM_000517.6(HBA2): c.418A> G (p.Lys140Glu) single nucleotide variant Pathogenic rs41361546 GRCh37 Chromosome 16, 223588: 223588
8 HBA2 NM_000517.6(HBA2): c.418A> G (p.Lys140Glu) single nucleotide variant Pathogenic rs41361546 GRCh38 Chromosome 16, 173589: 173589
9 HBA1 NM_000558.3(HBA1): c.278G> T (p.Arg93Leu) single nucleotide variant Pathogenic rs33991779 GRCh37 Chromosome 16, 227110: 227110
10 HBA1 NM_000558.3(HBA1): c.278G> T (p.Arg93Leu) single nucleotide variant Pathogenic rs33991779 GRCh38 Chromosome 16, 177111: 177111
11 HBA1 NM_000558.3(HBA1): c.278G> A (p.Arg93Gln) single nucleotide variant Pathogenic rs33991779 GRCh37 Chromosome 16, 227110: 227110
12 HBA1 NM_000558.3(HBA1): c.278G> A (p.Arg93Gln) single nucleotide variant Pathogenic rs33991779 GRCh38 Chromosome 16, 177111: 177111
13 HBA1 NM_000558.3(HBA1): c.425G> T (p.Arg142Leu) single nucleotide variant Pathogenic rs33935328 GRCh37 Chromosome 16, 227406: 227406
14 HBA1 NM_000558.3(HBA1): c.425G> T (p.Arg142Leu) single nucleotide variant Pathogenic rs33935328 GRCh38 Chromosome 16, 177407: 177407
15 HBA1 NM_000558.5(HBA1): c.265G> T (p.Ala89Ser) single nucleotide variant Pathogenic rs35239527 GRCh37 Chromosome 16, 227097: 227097
16 HBA1 NM_000558.5(HBA1): c.265G> T (p.Ala89Ser) single nucleotide variant Pathogenic rs35239527 GRCh38 Chromosome 16, 177098: 177098
17 HBA1 NM_000558.3(HBA1): c.134C> T (p.Pro45Leu) single nucleotide variant Pathogenic rs33978134 GRCh37 Chromosome 16, 226966: 226966
18 HBA1 NM_000558.3(HBA1): c.134C> T (p.Pro45Leu) single nucleotide variant Pathogenic rs33978134 GRCh38 Chromosome 16, 176967: 176967
19 HBA1 NM_000558.3(HBA1): c.424C> T (p.Arg142Cys) single nucleotide variant Pathogenic rs33991910 GRCh37 Chromosome 16, 227405: 227405
20 HBA1 NM_000558.3(HBA1): c.424C> T (p.Arg142Cys) single nucleotide variant Pathogenic rs33991910 GRCh38 Chromosome 16, 177406: 177406
21 HBA1 NM_000558.5(HBA1): c.379G> C (p.Asp127His) single nucleotide variant Pathogenic rs63750950 GRCh37 Chromosome 16, 227360: 227360
22 HBA1 NM_000558.5(HBA1): c.379G> C (p.Asp127His) single nucleotide variant Pathogenic rs63750950 GRCh38 Chromosome 16, 177361: 177361
23 HBA1 NM_000558.3(HBA1): c.425G> A (p.Arg142His) single nucleotide variant Pathogenic rs33935328 GRCh37 Chromosome 16, 227406: 227406
24 HBA1 NM_000558.3(HBA1): c.425G> A (p.Arg142His) single nucleotide variant Pathogenic rs33935328 GRCh38 Chromosome 16, 177407: 177407
25 HBA1 NM_000558.3(HBA1): c.20A> G (p.Asp7Gly) single nucleotide variant Pathogenic rs33986902 GRCh37 Chromosome 16, 226735: 226735
26 HBA1 NM_000558.3(HBA1): c.20A> G (p.Asp7Gly) single nucleotide variant Pathogenic rs33986902 GRCh38 Chromosome 16, 176736: 176736
27 HBA1 NM_000517.4(HBA2): c.122A> T (p.Lys41Met) single nucleotide variant Pathogenic rs281864828 GRCh37 Chromosome 16, 223150: 223150
28 HBA1 NM_000517.4(HBA2): c.122A> T (p.Lys41Met) single nucleotide variant Pathogenic rs281864828 GRCh38 Chromosome 16, 173151: 173151
29 HBA1 NM_000558.5(HBA1): c.421T> C (p.Tyr141His) single nucleotide variant Pathogenic rs35723200 GRCh37 Chromosome 16, 227402: 227402
30 HBA1 NM_000558.5(HBA1): c.421T> C (p.Tyr141His) single nucleotide variant Pathogenic rs35723200 GRCh38 Chromosome 16, 177403: 177403

Expression for Erythrocytosis, Familial, 7

Search GEO for disease gene expression data for Erythrocytosis, Familial, 7.

Pathways for Erythrocytosis, Familial, 7

GO Terms for Erythrocytosis, Familial, 7

Cellular components related to Erythrocytosis, Familial, 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.32 HBA1 HBA2
2 cytosolic small ribosomal subunit GO:0022627 9.26 HBA1 HBA2
3 endocytic vesicle lumen GO:0071682 9.16 HBA1 HBA2
4 hemoglobin complex GO:0005833 8.96 HBA1 HBA2
5 haptoglobin-hemoglobin complex GO:0031838 8.62 HBA1 HBA2

Biological processes related to Erythrocytosis, Familial, 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.43 HBA1 HBA2
2 cellular oxidant detoxification GO:0098869 9.4 HBA1 HBA2
3 protein heterooligomerization GO:0051291 9.37 HBA1 HBA2
4 response to hydrogen peroxide GO:0042542 9.32 HBA1 HBA2
5 positive regulation of cell death GO:0010942 9.26 HBA1 HBA2
6 bicarbonate transport GO:0015701 9.16 HBA1 HBA2
7 hydrogen peroxide catabolic process GO:0042744 8.96 HBA1 HBA2
8 oxygen transport GO:0015671 8.62 HBA1 HBA2

Molecular functions related to Erythrocytosis, Familial, 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.4 HBA1 HBA2
2 iron ion binding GO:0005506 9.37 HBA1 HBA2
3 oxygen binding GO:0019825 9.32 HBA1 HBA2
4 peroxidase activity GO:0004601 9.26 HBA1 HBA2
5 oxygen carrier activity GO:0005344 9.16 HBA1 HBA2
6 organic acid binding GO:0043177 8.96 HBA1 HBA2
7 haptoglobin binding GO:0031720 8.62 HBA1 HBA2

Sources for Erythrocytosis, Familial, 7

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