ECYT6
MCID: ERY064
MIFTS: 11

Erythrocytosis, Familial, 6 (ECYT6)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Erythrocytosis, Familial, 6

MalaCards integrated aliases for Erythrocytosis, Familial, 6:

Name: Erythrocytosis, Familial, 6 57
Erythrocytosis, Beta-Globin Type 57
Polycythemia, Beta-Globin Type 57
Erythrocytosis 6, Familial 6
Erythrocytosis 6 57
Ecyt6 57

Classifications:



External Ids:

OMIM 57 617980

Summaries for Erythrocytosis, Familial, 6

OMIM : 57 Familial erythrocytosis-6 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 (see 617981) is usually milder than that caused by a beta chain variant. (617980)

MalaCards based summary : Erythrocytosis, Familial, 6, is also known as erythrocytosis, beta-globin type. An important gene associated with Erythrocytosis, Familial, 6 is HBB (Hemoglobin Subunit Beta).

Related Diseases for Erythrocytosis, Familial, 6

Symptoms & Phenotypes for Erythrocytosis, Familial, 6

Clinical features from OMIM:

617980

Drugs & Therapeutics for Erythrocytosis, Familial, 6

Search Clinical Trials , NIH Clinical Center for Erythrocytosis, Familial, 6

Genetic Tests for Erythrocytosis, Familial, 6

Anatomical Context for Erythrocytosis, Familial, 6

Publications for Erythrocytosis, Familial, 6

Variations for Erythrocytosis, Familial, 6

ClinVar genetic disease variations for Erythrocytosis, Familial, 6:

6 (show top 50) (show all 72)
# Gene Variation Type Significance SNP ID Assembly Location
1 HBB NM_000518.4(HBB): c.283G> C (p.Asp95His) single nucleotide variant Pathogenic rs33959340 GRCh37 Chromosome 11, 5247839: 5247839
2 HBB NM_000518.4(HBB): c.305A> G (p.Glu102Gly) single nucleotide variant Pathogenic rs33937393 GRCh37 Chromosome 11, 5247817: 5247817
3 HBB NM_000518.4(HBB): c.305A> G (p.Glu102Gly) single nucleotide variant Pathogenic rs33937393 GRCh38 Chromosome 11, 5226587: 5226587
4 HBB NM_000518.4(HBB): c.435G> C (p.Lys145Asn) single nucleotide variant Pathogenic rs35020585 GRCh37 Chromosome 11, 5246837: 5246837
5 HBB NM_000518.4(HBB): c.435G> C (p.Lys145Asn) single nucleotide variant Pathogenic rs35020585 GRCh38 Chromosome 11, 5225607: 5225607
6 HBB NM_000518.4(HBB): c.283G> C (p.Asp95His) single nucleotide variant Pathogenic rs33959340 GRCh38 Chromosome 11, 5226609: 5226609
7 HBB NM_000518.4(HBB): c.436T> C (p.Tyr146His) single nucleotide variant Pathogenic rs33949869 GRCh37 Chromosome 11, 5246836: 5246836
8 HBB NM_000518.4(HBB): c.436T> C (p.Tyr146His) single nucleotide variant Pathogenic rs33949869 GRCh38 Chromosome 11, 5225606: 5225606
9 HBB NM_000518.4(HBB): c.302C> T (p.Pro101Leu) single nucleotide variant Pathogenic rs33965000 GRCh37 Chromosome 11, 5247820: 5247820
10 HBB NM_000518.4(HBB): c.302C> T (p.Pro101Leu) single nucleotide variant Pathogenic rs33965000 GRCh38 Chromosome 11, 5226590: 5226590
11 HBB NM_000518.4(HBB): c.206T> A (p.Leu69His) single nucleotide variant Pathogenic rs33972593 GRCh37 Chromosome 11, 5247916: 5247916
12 HBB NM_000518.4(HBB): c.206T> A (p.Leu69His) single nucleotide variant Pathogenic rs33972593 GRCh38 Chromosome 11, 5226686: 5226686
13 HBB NM_000518.4(HBB): c.304G> A (p.Glu102Lys) single nucleotide variant Pathogenic rs33966487 GRCh37 Chromosome 11, 5247818: 5247818
14 HBB NM_000518.4(HBB): c.304G> A (p.Glu102Lys) single nucleotide variant Pathogenic rs33966487 GRCh38 Chromosome 11, 5226588: 5226588
15 HBB NM_000518.4(HBB): c.299A> T (p.Asp100Val) single nucleotide variant Pathogenic rs33971048 GRCh37 Chromosome 11, 5247823: 5247823
16 HBB NM_000518.4(HBB): c.299A> T (p.Asp100Val) single nucleotide variant Pathogenic rs33971048 GRCh38 Chromosome 11, 5226593: 5226593
17 HBB NM_000518.4(HBB): c.440A> T (p.His147Leu) single nucleotide variant Pathogenic rs33954264 GRCh37 Chromosome 11, 5246832: 5246832
18 HBB NM_000518.4(HBB): c.440A> T (p.His147Leu) single nucleotide variant Pathogenic rs33954264 GRCh38 Chromosome 11, 5225602: 5225602
19 HBB NM_000518.4(HBB): c.269G> A (p.Ser90Asn) single nucleotide variant Pathogenic rs33917628 GRCh37 Chromosome 11, 5247853: 5247853
20 HBB NM_000518.4(HBB): c.269G> A (p.Ser90Asn) single nucleotide variant Pathogenic rs33917628 GRCh38 Chromosome 11, 5226623: 5226623
21 HBB NM_000518.4(HBB): c.312C> G (p.Phe104Leu) single nucleotide variant Pathogenic rs35067717 GRCh37 Chromosome 11, 5247810: 5247810
22 HBB NM_000518.4(HBB): c.312C> G (p.Phe104Leu) single nucleotide variant Pathogenic rs35067717 GRCh38 Chromosome 11, 5226580: 5226580
23 HBB NM_000518.4(HBB): c.248A> T (p.Lys83Met) single nucleotide variant Pathogenic rs33987903 GRCh37 Chromosome 11, 5247874: 5247874
24 HBB NM_000518.4(HBB): c.248A> T (p.Lys83Met) single nucleotide variant Pathogenic rs33987903 GRCh38 Chromosome 11, 5226644: 5226644
25 HBB NM_000518.4(HBB): c.439C> G (p.His147Asp) single nucleotide variant Pathogenic rs33961444 GRCh37 Chromosome 11, 5246833: 5246833
26 HBB NM_000518.4(HBB): c.439C> G (p.His147Asp) single nucleotide variant Pathogenic rs33961444 GRCh38 Chromosome 11, 5225603: 5225603
27 HBB NM_000518.4(HBB): c.299A> G (p.Asp100Gly) single nucleotide variant Pathogenic rs33971048 GRCh37 Chromosome 11, 5247823: 5247823
28 HBB NM_000518.4(HBB): c.299A> G (p.Asp100Gly) single nucleotide variant Pathogenic rs33971048 GRCh38 Chromosome 11, 5226593: 5226593
29 HBB NM_000518.4(HBB): c.298G> A (p.Asp100Asn) single nucleotide variant Pathogenic rs33954595 GRCh37 Chromosome 11, 5247824: 5247824
30 HBB NM_000518.4(HBB): c.298G> A (p.Asp100Asn) single nucleotide variant Pathogenic rs33954595 GRCh38 Chromosome 11, 5226594: 5226594
31 HBB HBB, HIS143GLN undetermined variant Pathogenic
32 HBB NP_000509.1: p.His98Gln single nucleotide variant Pathogenic rs34515413 GRCh37 Chromosome 11, 5247828: 5247828
33 HBB NP_000509.1: p.His98Gln single nucleotide variant Pathogenic rs34515413 GRCh38 Chromosome 11, 5226598: 5226598
34 HBB NM_000518.4(HBB): c.438T> A (p.Tyr146Ter) single nucleotide variant Pathogenic rs35291591 GRCh37 Chromosome 11, 5246834: 5246834
35 HBB NM_000518.4(HBB): c.438T> A (p.Tyr146Ter) single nucleotide variant Pathogenic rs35291591 GRCh38 Chromosome 11, 5225604: 5225604
36 HBB NM_000518.4(HBB): c.428C> A (p.Ala143Asp) single nucleotide variant Pathogenic rs33921821 GRCh37 Chromosome 11, 5246844: 5246844
37 HBB NM_000518.4(HBB): c.428C> A (p.Ala143Asp) single nucleotide variant Pathogenic rs33921821 GRCh38 Chromosome 11, 5225614: 5225614
38 HBB NM_000518.4(HBB): c.61G> A (p.Val21Met) single nucleotide variant Pathogenic rs35890959 GRCh37 Chromosome 11, 5248191: 5248191
39 HBB NM_000518.4(HBB): c.61G> A (p.Val21Met) single nucleotide variant Pathogenic rs35890959 GRCh38 Chromosome 11, 5226961: 5226961
40 HBB HBB, TYR145ASN-TO-ASP single nucleotide variant Pathogenic
41 HBB NM_000518.4(HBB): c.70G> T (p.Val24Phe) single nucleotide variant Pathogenic rs33929459 GRCh37 Chromosome 11, 5248182: 5248182
42 HBB NM_000518.4(HBB): c.70G> T (p.Val24Phe) single nucleotide variant Pathogenic rs33929459 GRCh38 Chromosome 11, 5226952: 5226952
43 HBB NM_000518.4(HBB): c.103G> T (p.Val35Phe) single nucleotide variant Pathogenic rs1141387 GRCh37 Chromosome 11, 5248019: 5248019
44 HBB NM_000518.4(HBB): c.103G> T (p.Val35Phe) single nucleotide variant Pathogenic rs1141387 GRCh38 Chromosome 11, 5226789: 5226789
45 HBB NM_000518.4(HBB): c.299A> C (p.Asp100Ala) single nucleotide variant Pathogenic rs33971048 GRCh37 Chromosome 11, 5247823: 5247823
46 HBB NM_000518.4(HBB): c.299A> C (p.Asp100Ala) single nucleotide variant Pathogenic rs33971048 GRCh38 Chromosome 11, 5226593: 5226593
47 HBB NM_000518.4(HBB): c.306G> C (p.Glu102Asp) single nucleotide variant Pathogenic rs35209591 GRCh37 Chromosome 11, 5247816: 5247816
48 HBB NM_000518.4(HBB): c.306G> C (p.Glu102Asp) single nucleotide variant Pathogenic rs35209591 GRCh38 Chromosome 11, 5226586: 5226586
49 HBB NM_000518.4(HBB): c.249G> Y (p.Lys83Asn) single nucleotide variant Pathogenic rs33991993 GRCh37 Chromosome 11, 5247873: 5247873
50 HBB NM_000518.4(HBB): c.249G> Y (p.Lys83Asn) single nucleotide variant Pathogenic rs33991993 GRCh38 Chromosome 11, 5226643: 5226643

Expression for Erythrocytosis, Familial, 6

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GO Terms for Erythrocytosis, Familial, 6

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