ECYT7
MCID: ERY065
MIFTS: 26

Erythrocytosis, Familial, 7 (ECYT7)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Erythrocytosis, Familial, 7

MalaCards integrated aliases for Erythrocytosis, Familial, 7:

Name: Erythrocytosis, Familial, 7 57 6
Erythrocytosis, Alpha-Globin Type 57
Polycythemia, Alpha-Globin Type 57
Erythrocytosis, 7 57
Erythrocytosis 7 57
Ecyt7 57

Classifications:



External Ids:

OMIM 57 617981

Summaries for Erythrocytosis, Familial, 7

OMIM : 57 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:

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

Anatomical Context for Erythrocytosis, Familial, 7

Publications for Erythrocytosis, Familial, 7

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_000517.4(HBA2): c.266C> T (p.Ala89Val) single nucleotide variant Pathogenic rs33983416 GRCh37 Chromosome 16, 223294: 223294
2 HBA2 NM_000517.4(HBA2): c.266C> T (p.Ala89Val) single nucleotide variant Pathogenic rs33983416 GRCh38 Chromosome 16, 173295: 173295
3 HBA2 NM_000517.4(HBA2): c.186G> C (p.Lys62Asn) single nucleotide variant Pathogenic rs33985574 GRCh37 Chromosome 16, 223214: 223214
4 HBA2 NM_000517.4(HBA2): c.186G> C (p.Lys62Asn) single nucleotide variant Pathogenic rs33985574 GRCh38 Chromosome 16, 173215: 173215
5 HBA2 NM_000517.4(HBA2): c.257A> T (p.Asp86Val) single nucleotide variant Likely benign rs41331747 GRCh37 Chromosome 16, 223285: 223285
6 HBA2 NM_000517.4(HBA2): c.257A> T (p.Asp86Val) single nucleotide variant Likely benign rs41331747 GRCh38 Chromosome 16, 173286: 173286
7 HBA2 NM_000517.4(HBA2): c.418A> G (p.Lys140Glu) single nucleotide variant Pathogenic rs41361546 GRCh37 Chromosome 16, 223588: 223588
8 HBA2 NM_000517.4(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_000558.4(HBA1): c.265G> T (p.Ala89Ser) single nucleotide variant Pathogenic rs35239527 GRCh37 Chromosome 16, 227097: 227097
16 HBA1 NM_000558.4(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_000558.4(HBA1): c.379G> C (p.Asp127His) single nucleotide variant Pathogenic rs63750950 GRCh37 Chromosome 16, 227360: 227360
22 HBA1 NM_000558.4(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_000558.4(HBA1): c.421T> C (p.Tyr141His) single nucleotide variant Pathogenic rs35723200 GRCh37 Chromosome 16, 227402: 227402
30 HBA1 NM_000558.4(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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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44 MeSH
45 MESH via Orphanet
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49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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