ECYT7
MCID: ERY065
MIFTS: 32

Erythrocytosis, Familial, 7 (ECYT7)

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

Aliases & Classifications for Erythrocytosis, Familial, 7

MalaCards integrated aliases for Erythrocytosis, Familial, 7:

Name: Erythrocytosis, Familial, 7 56 29 6
Ecyt7 56 12
Erythrocytosis, Alpha-Globin Type 56
Alpha-Globin Type Erythrocytosis 12
Polycythemia, Alpha-Globin Type 56
Alpha-Globin Type Polycythemia 12
Familial Erythrocytosis 7 12
Erythrocytosis, 7 56
Erythrocytosis 7 56

Classifications:



External Ids:

Disease Ontology 12 DOID:0111631
OMIM 56 617981
OMIM Phenotypic Series 56 PS133100

Summaries for Erythrocytosis, Familial, 7

OMIM : 56 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 ecyt7, is related to alpha-thalassemia/mental retardation syndrome, chromosome 16-related and hemoglobin zurich. 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)

Disease Ontology : 12 A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has material basis in heterozygous mutation in either HBA2 or HBA1 on chromosome 16p13.3.

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:

26
# 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

Genetic tests related to Erythrocytosis, Familial, 7:

# Genetic test Affiliating Genes
1 Erythrocytosis, Familial, 7 29 HBA1 HBA2

Anatomical Context for Erythrocytosis, Familial, 7

Publications for Erythrocytosis, Familial, 7

Articles related to Erythrocytosis, Familial, 7:

(show all 33)
# Title Authors PMID Year
1
Polycythemia associated with a hemoglobinopathy. 56 6
5913291 1966
2
Haemoglobinopathies with high oxygen affinity. Experience of Erythropathology Cooperative Spanish Group. 56
18818920 2009
3
Hemoglobins with high oxygen affinity leading to erythrocytosis. New variants and new concepts. 56
15921161 2005
4
Hb Inkster [alpha85(F6)Asp-->Val] found in a caucasian male with polycythemia. 6
11186265 2000
5
Congenital and inherited polycythemia. 56
10676771 2000
6
Hb Sassari [alpha 126(H9)Asp-->His] results from a GAC-->CAC mutation in the alpha 1-globin gene. 6
9494049 1998
7
HB Swan River [alpha 6(A4)ASP-->Gly] observed in a Japanese man. 6
8745434 1996
8
Functional alterations in adult and fetal hemoglobin Sassari Asp-alpha 126(H9)-->His. The role of alpha 1 alpha 2 contact. 6
7518430 1994
9
A second case of Hb Hanamaki [alpha 2 139(HC1)Lys->Glu beta 2] in an American family with erythrocytosis. 6
7928378 1994
10
Hemoglobin Rouen (alpha-140 (HC2) Tyr-->His): alteration of the alpha-chain C-terminal region and moderate increase in oxygen affinity. 6
1390944 1992
11
A new alpha chain variant, Hb Hanamaki or alpha 2(139)(HC1)Lys----Glu beta 2, found in a Japanese family. 6
1634363 1992
12
Hb Kanagawa [alpha 40(C5)Lys----Met]: a new alpha chain variant with an increased oxygen affinity. 6
1634355 1992
13
Hemoglobinopathies in Sardinia. 6
1517114 1992
14
Hb Ethiopia or alpha 2(140)(HC2)Tyr----His beta 2. 6
1428951 1992
15
Hemoglobin Columbia Missouri or alpha 2[88 (F9) Ala----Val]beta 2: a new high-oxygen-affinity hemoglobin that causes erythrocytosis. 6
1988759 1991
16
Functional and NMR studies of Hb Sassari (Asp-126 alpha----His); role of the inter-subunit contacts in the affinity control of human hemoglobin. 6
2268670 1990
17
Locus assignment of human alpha-globin structural mutants by selective enzymatic amplification of alpha 1 and alpha 2-globin cDNAs. 6
2227935 1990
18
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). 6
2752146 1989
19
Increased oxygen affinity with normal heterotropic effects in hemoglobin Loire [alpha 88(F9)Ala----Ser]. 6
3142772 1988
20
Hemoglobin Swan River [alpha 6(A4)Asp----Gly]. 6
3583768 1987
21
Hb Sassari or alpha (2)126(H9)Asp---His beta 2 observed in a family from Northern Sardinia. 6
3667323 1987
22
The haematological puzzle of Hb J Cape Town is partly solved. 6
3718876 1986
23
Hemoglobin Tokoname [alpha 139 (HC 1) Lys leads to Thr]: a new hemoglobin variant with a slightly increased oxygen affinity. 6
6188720 1983
24
Hemoglobin Milledgeville (alpha 44 (CD2) Pro leads to Leu): a new variant with increased oxygen affinity. 6
7213661 1980
25
Hemoglobin Legnano (alpha2 141 (HC3) Arg replaced by Leu beta2): a new abnormal human hemoglobin with high oxygen affinity. 6
701083 1978
26
Hemoglobin Suresnes in a Costa Rican woman of Spanish-Indian ancestry. 6
701092 1978
27
Structural and functional studies of haemoglobin Suresnes or alpha2 141 (HC3) Arg replaced by His beta2, a new high oxygen affinity mutant. 6
11123 1976
28
Two new hemoglobins. Hemoglobin Alabama (beta39(C5)Gln leads to Lys) and hemoglobin Montgomery (alpha 48(CD 6) Leu leads to Arg). 6
1115799 1975
29
Haemoglobin inkster (alpha2 85aspartic acid leads to valine beta2) coexisting with beta-thalassaemia in a Caucasian family. 6
4212045 1974
30
Multiple alpha chain loci for human haemoglobins: Hb J-Buda and Hb G-Pest. 6
4550395 1972
31
Hemoglobin J Cape Town-alpha-2 92 arginine replaced by glutamine beta-2. 6
5988206 1966
32
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). 6
5967288 1966
33
[Response of lymphoid and hematopoietic tissues to the growth of syngeneic transplantable hemangiopericytomas in mice]. 61
7295950 1981

Variations for Erythrocytosis, Familial, 7

ClinVar genetic disease variations for Erythrocytosis, Familial, 7:

6 (show all 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HBA2 NM_000517.6(HBA2):c.418A>G (p.Lys140Glu)SNV Pathogenic 15646 rs41361546 16:223588-223588 16:173589-173589
2 HBA1 NM_000558.3(HBA1):c.278G>T (p.Arg93Leu)SNV Pathogenic 15711 rs33991779 16:227110-227110 16:177111-177111
3 HBA1 NM_000558.3(HBA1):c.278G>A (p.Arg93Gln)SNV Pathogenic 15752 rs33991779 16:227110-227110 16:177111-177111
4 HBA1 NM_000558.3(HBA1):c.425G>T (p.Arg142Leu)SNV Pathogenic 15773 rs33935328 16:227406-227406 16:177407-177407
5 HBA1 NM_000558.5(HBA1):c.265G>T (p.Ala89Ser)SNV Pathogenic 15776 rs35239527 16:227097-227097 16:177098-177098
6 HBA1 NM_000558.3(HBA1):c.134C>T (p.Pro45Leu)SNV Pathogenic 15783 rs33978134 16:226966-226966 16:176967-176967
7 HBA1 NM_000558.3(HBA1):c.424C>T (p.Arg142Cys)SNV Pathogenic 15792 rs33991910 16:227405-227405 16:177406-177406
8 HBA1 NM_000558.5(HBA1):c.379G>C (p.Asp127His)SNV Pathogenic 15807 rs63750950 16:227360-227360 16:177361-177361
9 HBA1 NM_000558.3(HBA1):c.425G>A (p.Arg142His)SNV Pathogenic 15821 rs33935328 16:227406-227406 16:177407-177407
10 HBA1 NM_000558.3(HBA1):c.20A>G (p.Asp7Gly)SNV Pathogenic 15822 rs33986902 16:226735-226735 16:176736-176736
11 HBA1 NM_000517.6(HBA2):c.122A>T (p.Lys41Met)SNV Pathogenic 15844 rs281864828 16:223150-223150 16:173151-173151
12 HBA1 NM_000558.5(HBA1):c.421T>C (p.Tyr141His)SNV Pathogenic 15856 rs35723200 16:227402-227402 16:177403-177403
13 HBA2 NM_000517.6(HBA2):c.266C>T (p.Ala89Val)SNV Pathogenic 15628 rs33983416 16:223294-223294 16:173295-173295
14 HBA2 NM_000517.6(HBA2):c.186G>C (p.Lys62Asn)SNV Pathogenic 15633 rs33985574 16:223214-223214 16:173215-173215
15 HBA2 NM_000517.6(HBA2):c.257A>T (p.Asp86Val)SNV Likely benign 15639 rs41331747 16:223285-223285 16:173286-173286

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 HBA2 HBA1
2 cytosolic small ribosomal subunit GO:0022627 9.26 HBA2 HBA1
3 endocytic vesicle lumen GO:0071682 9.16 HBA2 HBA1
4 hemoglobin complex GO:0005833 8.96 HBA2 HBA1
5 haptoglobin-hemoglobin complex GO:0031838 8.62 HBA2 HBA1

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 9.4 HBA2 HBA1
2 cellular oxidant detoxification GO:0098869 9.37 HBA2 HBA1
3 response to hydrogen peroxide GO:0042542 9.32 HBA2 HBA1
4 positive regulation of cell death GO:0010942 9.26 HBA2 HBA1
5 bicarbonate transport GO:0015701 9.16 HBA2 HBA1
6 hydrogen peroxide catabolic process GO:0042744 8.96 HBA2 HBA1
7 oxygen transport GO:0015671 8.62 HBA2 HBA1

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 HBA2 HBA1
2 iron ion binding GO:0005506 9.37 HBA2 HBA1
3 peroxidase activity GO:0004601 9.32 HBA2 HBA1
4 oxygen binding GO:0019825 9.26 HBA2 HBA1
5 oxygen carrier activity GO:0005344 9.16 HBA2 HBA1
6 organic acid binding GO:0043177 8.96 HBA2 HBA1
7 haptoglobin binding GO:0031720 8.62 HBA2 HBA1

Sources for Erythrocytosis, Familial, 7

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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