ECYT6
MCID: ERY064
MIFTS: 12

Erythrocytosis, Familial, 6 (ECYT6)

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

Aliases & Classifications for Erythrocytosis, Familial, 6

MalaCards integrated aliases for Erythrocytosis, Familial, 6:

Name: Erythrocytosis, Familial, 6 58
Erythrocytosis, Beta-Globin Type 58
Polycythemia, Beta-Globin Type 58
Erythrocytosis 6, Familial 6
Erythrocytosis 6 58
Ecyt6 58

Classifications:



External Ids:

OMIM 58 617980

Summaries for Erythrocytosis, Familial, 6

OMIM : 58 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_000518.5(HBB): c.61G> A (p.Val21Met) single nucleotide variant Pathogenic rs35890959 GRCh37 Chromosome 11, 5248191: 5248191
2 HBB NM_000518.5(HBB): c.61G> A (p.Val21Met) single nucleotide variant Pathogenic rs35890959 GRCh38 Chromosome 11, 5226961: 5226961
3 HBB HBB, TYR145ASN-TO-ASP single nucleotide variant Pathogenic
4 HBB NM_000518.4(HBB): c.70G> T (p.Val24Phe) single nucleotide variant Pathogenic rs33929459 GRCh37 Chromosome 11, 5248182: 5248182
5 HBB NM_000518.4(HBB): c.70G> T (p.Val24Phe) single nucleotide variant Pathogenic rs33929459 GRCh38 Chromosome 11, 5226952: 5226952
6 HBB NM_000518.5(HBB): c.305A> G (p.Glu102Gly) single nucleotide variant Pathogenic rs33937393 GRCh37 Chromosome 11, 5247817: 5247817
7 HBB NM_000518.5(HBB): c.305A> G (p.Glu102Gly) single nucleotide variant Pathogenic rs33937393 GRCh38 Chromosome 11, 5226587: 5226587
8 HBB NM_000518.5(HBB): c.435G> C (p.Lys145Asn) single nucleotide variant Pathogenic rs35020585 GRCh37 Chromosome 11, 5246837: 5246837
9 HBB NM_000518.5(HBB): c.435G> C (p.Lys145Asn) single nucleotide variant Pathogenic rs35020585 GRCh38 Chromosome 11, 5225607: 5225607
10 HBB NM_000518.4(HBB): c.283G> C (p.Asp95His) single nucleotide variant Pathogenic rs33959340 GRCh37 Chromosome 11, 5247839: 5247839
11 HBB NM_000518.4(HBB): c.283G> C (p.Asp95His) single nucleotide variant Pathogenic rs33959340 GRCh38 Chromosome 11, 5226609: 5226609
12 HBB NM_000518.5(HBB): c.436T> C (p.Tyr146His) single nucleotide variant Pathogenic rs33949869 GRCh37 Chromosome 11, 5246836: 5246836
13 HBB NM_000518.5(HBB): c.436T> C (p.Tyr146His) single nucleotide variant Pathogenic rs33949869 GRCh38 Chromosome 11, 5225606: 5225606
14 HBB NM_000518.4(HBB): c.302C> T (p.Pro101Leu) single nucleotide variant Pathogenic rs33965000 GRCh37 Chromosome 11, 5247820: 5247820
15 HBB NM_000518.4(HBB): c.302C> T (p.Pro101Leu) single nucleotide variant Pathogenic rs33965000 GRCh38 Chromosome 11, 5226590: 5226590
16 HBB NM_000518.4(HBB): c.206T> A (p.Leu69His) single nucleotide variant Pathogenic rs33972593 GRCh37 Chromosome 11, 5247916: 5247916
17 HBB NM_000518.4(HBB): c.206T> A (p.Leu69His) single nucleotide variant Pathogenic rs33972593 GRCh38 Chromosome 11, 5226686: 5226686
18 HBB NM_000518.4(HBB): c.304G> A (p.Glu102Lys) single nucleotide variant Pathogenic rs33966487 GRCh37 Chromosome 11, 5247818: 5247818
19 HBB NM_000518.4(HBB): c.304G> A (p.Glu102Lys) single nucleotide variant Pathogenic rs33966487 GRCh38 Chromosome 11, 5226588: 5226588
20 HBB NM_000518.4(HBB): c.299A> T (p.Asp100Val) single nucleotide variant Pathogenic rs33971048 GRCh37 Chromosome 11, 5247823: 5247823
21 HBB NM_000518.4(HBB): c.299A> T (p.Asp100Val) single nucleotide variant Pathogenic rs33971048 GRCh38 Chromosome 11, 5226593: 5226593
22 HBB NM_000518.4(HBB): c.440A> T (p.His147Leu) single nucleotide variant Pathogenic rs33954264 GRCh37 Chromosome 11, 5246832: 5246832
23 HBB NM_000518.4(HBB): c.440A> T (p.His147Leu) single nucleotide variant Pathogenic rs33954264 GRCh38 Chromosome 11, 5225602: 5225602
24 HBB NM_000518.4(HBB): c.269G> A (p.Ser90Asn) single nucleotide variant Pathogenic rs33917628 GRCh37 Chromosome 11, 5247853: 5247853
25 HBB NM_000518.4(HBB): c.269G> A (p.Ser90Asn) single nucleotide variant Pathogenic rs33917628 GRCh38 Chromosome 11, 5226623: 5226623
26 HBB NM_000518.5(HBB): c.431A> C (p.His144Pro) single nucleotide variant Pathogenic rs33918338 GRCh37 Chromosome 11, 5246841: 5246841
27 HBB NM_000518.5(HBB): c.312C> G (p.Phe104Leu) single nucleotide variant Pathogenic rs35067717 GRCh37 Chromosome 11, 5247810: 5247810
28 HBB NM_000518.5(HBB): c.312C> G (p.Phe104Leu) single nucleotide variant Pathogenic rs35067717 GRCh38 Chromosome 11, 5226580: 5226580
29 HBB NM_000518.4(HBB): c.248A> T (p.Lys83Met) single nucleotide variant Pathogenic rs33987903 GRCh37 Chromosome 11, 5247874: 5247874
30 HBB NM_000518.4(HBB): c.248A> T (p.Lys83Met) single nucleotide variant Pathogenic rs33987903 GRCh38 Chromosome 11, 5226644: 5226644
31 HBB NM_000518.4(HBB): c.439C> G (p.His147Asp) single nucleotide variant Pathogenic rs33961444 GRCh37 Chromosome 11, 5246833: 5246833
32 HBB NM_000518.4(HBB): c.439C> G (p.His147Asp) single nucleotide variant Pathogenic rs33961444 GRCh38 Chromosome 11, 5225603: 5225603
33 HBB NM_000518.4(HBB): c.299A> G (p.Asp100Gly) single nucleotide variant Pathogenic rs33971048 GRCh37 Chromosome 11, 5247823: 5247823
34 HBB NM_000518.4(HBB): c.299A> G (p.Asp100Gly) single nucleotide variant Pathogenic rs33971048 GRCh38 Chromosome 11, 5226593: 5226593
35 HBB NM_000518.4(HBB): c.298G> A (p.Asp100Asn) single nucleotide variant Pathogenic rs33954595 GRCh37 Chromosome 11, 5247824: 5247824
36 HBB NM_000518.4(HBB): c.298G> A (p.Asp100Asn) single nucleotide variant Pathogenic rs33954595 GRCh38 Chromosome 11, 5226594: 5226594
37 HBB HBB, HIS143GLN undetermined variant Pathogenic
38 HBB NP_000509.1: p.His98Gln single nucleotide variant Pathogenic rs34515413 GRCh37 Chromosome 11, 5247828: 5247828
39 HBB NP_000509.1: p.His98Gln single nucleotide variant Pathogenic rs34515413 GRCh38 Chromosome 11, 5226598: 5226598
40 HBB NM_000518.5(HBB): c.438T> A (p.Tyr146Ter) single nucleotide variant Pathogenic rs35291591 GRCh37 Chromosome 11, 5246834: 5246834
41 HBB NM_000518.5(HBB): c.438T> A (p.Tyr146Ter) single nucleotide variant Pathogenic rs35291591 GRCh38 Chromosome 11, 5225604: 5225604
42 HBB NM_000518.4(HBB): c.428C> A (p.Ala143Asp) single nucleotide variant Pathogenic rs33921821 GRCh37 Chromosome 11, 5246844: 5246844
43 HBB NM_000518.4(HBB): c.428C> A (p.Ala143Asp) single nucleotide variant Pathogenic rs33921821 GRCh38 Chromosome 11, 5225614: 5225614
44 HBB NM_000518.5(HBB): c.103G> T (p.Val35Phe) single nucleotide variant Pathogenic rs1141387 GRCh37 Chromosome 11, 5248019: 5248019
45 HBB NM_000518.5(HBB): c.103G> T (p.Val35Phe) single nucleotide variant Pathogenic rs1141387 GRCh38 Chromosome 11, 5226789: 5226789
46 HBB NM_000518.4(HBB): c.299A> C (p.Asp100Ala) single nucleotide variant Pathogenic rs33971048 GRCh37 Chromosome 11, 5247823: 5247823
47 HBB NM_000518.4(HBB): c.299A> C (p.Asp100Ala) single nucleotide variant Pathogenic rs33971048 GRCh38 Chromosome 11, 5226593: 5226593
48 HBB NM_000518.5(HBB): c.306G> C (p.Glu102Asp) single nucleotide variant Pathogenic rs35209591 GRCh37 Chromosome 11, 5247816: 5247816
49 HBB NM_000518.5(HBB): c.306G> C (p.Glu102Asp) single nucleotide variant Pathogenic rs35209591 GRCh38 Chromosome 11, 5226586: 5226586
50 HBB NM_000518.4(HBB): c.249G> Y (p.Lys83Asn) single nucleotide variant Pathogenic rs33991993 GRCh37 Chromosome 11, 5247873: 5247873

Expression for Erythrocytosis, Familial, 6

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GO Terms for Erythrocytosis, Familial, 6

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