MCID: RRH032
MIFTS: 19

Rare Hemolytic Anemia

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

Aliases & Classifications for Rare Hemolytic Anemia

MalaCards integrated aliases for Rare Hemolytic Anemia:

Name: Rare Hemolytic Anemia 58

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

UMLS via Orphanet 72 C0002878
Orphanet 58 ORPHA98363

Summaries for Rare Hemolytic Anemia

MalaCards based summary : Rare Hemolytic Anemia is related to dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema and hemolytic anemia. An important gene associated with Rare Hemolytic Anemia is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways is Vesicle-mediated transport. Affiliated tissues include spleen.

Related Diseases for Rare Hemolytic Anemia

Graphical network of the top 20 diseases related to Rare Hemolytic Anemia:



Diseases related to Rare Hemolytic Anemia

Symptoms & Phenotypes for Rare Hemolytic Anemia

Drugs & Therapeutics for Rare Hemolytic Anemia

Search Clinical Trials , NIH Clinical Center for Rare Hemolytic Anemia

Genetic Tests for Rare Hemolytic Anemia

Anatomical Context for Rare Hemolytic Anemia

MalaCards organs/tissues related to Rare Hemolytic Anemia:

40
Spleen

Publications for Rare Hemolytic Anemia

Articles related to Rare Hemolytic Anemia:

(showing 10, show less)
# Title Authors PMID Year
1
The burden of disease in pyruvate kinase deficiency: Patients' perception of the impact on health-related quality of life. 61
29935049 2018
2
Hemolytic anemia caused by aortic flap and inversion of felt strip after ascending aorta replacement. 61
27484121 2016
3
[Management of pregnancy and delivery in patients with paroxysmal nocturnal hemoglobinuria]. 61
26251141 2015
4
[Erythrocyte membrane abnormalities - hereditary elliptocytosis]. 61
25953944 2015
5
Nonimmune hydrops fetalis due to congenital xerocytosis. 61
15608620 2005
6
In utero erythrocyte transfusion for fetal xerocytosis associated with severe anemia and non-immune hydrops fetalis. 61
11483935 2001
7
Abnormal spectrin in hereditary elliptocytosis. 61
3940543 1986
8
Hereditary xerocytosis. A case history and review of the literature. 61
6462778 1984
9
Perioperative management of patients with paroxysmal nocturnal hemoglobinuria. 61
6169165 1981
10
Fine structures of the spleen in hereditary elliptocytosis. 61
998237 1976

Variations for Rare Hemolytic Anemia

ClinVar genetic disease variations for Rare Hemolytic Anemia:

6 (showing 70, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HBB NM_000518.5(HBB):c.127T>C (p.Phe43Leu)SNV Pathogenic 15251 rs33924146 11:5247995-5247995 11:5226765-5226765
2 HBB NM_000518.4(HBB):c.127T>G (p.Phe43Val)SNV Pathogenic 15347 rs33924146 11:5247995-5247995 11:5226765-5226765
3 SPTB NM_001355436.2(SPTB):c.5794_5798+6deldeletion Pathogenic 523359 rs1555367318 14:65237597-65237607 14:64770879-64770889
4 SLC4A1 NM_000342.4(SLC4A1):c.2208C>T (p.Asn736=)SNV Conflicting interpretations of pathogenicity 323505 rs766674440 17:42330589-42330589 17:44253221-44253221
5 SLC4A1 NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys)SNV Conflicting interpretations of pathogenicity 17756 rs45562031 17:42338993-42338993 17:44261625-44261625
6 SLC4A1 NM_000342.4(SLC4A1):c.*1676A>GSNV Uncertain significance 323476 rs745898810 17:42326150-42326150 17:44248782-44248782
7 SLC4A1 NM_000342.4(SLC4A1):c.*1606_*1608dupduplication Uncertain significance 323478 rs57466226 17:42326217-42326218 17:44248849-44248850
8 SLC4A1 NM_000342.4(SLC4A1):c.*1608deldeletion Uncertain significance 323479 rs57466226 17:42326218-42326218 17:44248850-44248850
9 SLC4A1 NM_000342.4(SLC4A1):c.*1198A>TSNV Uncertain significance 323487 rs886052992 17:42326628-42326628 17:44249260-44249260
10 SLC4A1 NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp)SNV Uncertain significance 64423 rs201265160 17:42327861-42327861 17:44250493-44250493
11 SLC4A1 NM_000342.4(SLC4A1):c.2210C>T (p.Ala737Val)SNV Uncertain significance 323504 rs886052997 17:42330587-42330587 17:44253219-44253219
12 SLC4A1 NM_000342.4(SLC4A1):c.1637A>G (p.Asp546Gly)SNV Uncertain significance 323507 rs886052998 17:42333204-42333204 17:44255836-44255836
13 SLC4A1 NM_000342.4(SLC4A1):c.636A>G (p.Ser212=)SNV Uncertain significance 323515 rs886053000 17:42336923-42336923 17:44259555-44259555
14 SLC4A1 NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys)SNV Uncertain significance 323517 rs538778224 17:42338066-42338066 17:44260698-44260698
15 SLC4A1 NM_000342.4(SLC4A1):c.*1832G>ASNV Uncertain significance 323474 rs886052988 17:42325994-42325994 17:44248626-44248626
16 SLC4A1 NM_000342.4(SLC4A1):c.*1273deldeletion Uncertain significance 323483 rs768606768 17:42326553-42326553 17:44249185-44249185
17 SLC4A1 NM_000342.4(SLC4A1):c.*1237C>TSNV Uncertain significance 323485 rs774513767 17:42326589-42326589 17:44249221-44249221
18 SLC4A1 NM_000342.4(SLC4A1):c.*977G>ASNV Uncertain significance 323489 rs886052993 17:42326849-42326849 17:44249481-44249481
19 SLC4A1 NM_000342.4(SLC4A1):c.1431+13T>GSNV Uncertain significance 323509 rs747632229 17:42335014-42335014 17:44257646-44257646
20 SLC4A1 NM_000342.4(SLC4A1):c.1225G>A (p.Val409Ile)SNV Uncertain significance 323511 rs201821517 17:42335411-42335411 17:44258043-44258043
21 SLC4A1 NM_000342.4(SLC4A1):c.173A>G (p.Tyr58Cys)SNV Uncertain significance 323520 rs368863744 17:42338179-42338179 17:44260811-44260811
22 SLC4A1 NM_000342.4(SLC4A1):c.-60G>ASNV Uncertain significance 323522 rs75489266 17:42340294-42340294 17:44262926-44262926
23 SLC4A1 NM_000342.4(SLC4A1):c.-136C>TSNV Uncertain significance 323525 rs566359654 17:42345489-42345489 17:44268121-44268121
24 SLC4A1 NM_000342.4(SLC4A1):c.*1608dupduplication Uncertain significance 323477 rs57466226 17:42326217-42326218 17:44248849-44248850
25 SLC4A1 NM_000342.4(SLC4A1):c.1431+15G>TSNV Uncertain significance 323508 rs886052999 17:42335012-42335012 17:44257644-44257644
26 SLC4A1 NM_000342.4(SLC4A1):c.884G>A (p.Arg295His)SNV Uncertain significance 323512 rs140424071 17:42335984-42335984 17:44258616-44258616
27 SLC4A1 NM_000342.4(SLC4A1):c.876+14G>ASNV Uncertain significance 323513 rs571092411 17:42336517-42336517 17:44259149-44259149
28 SLC4A1 NM_000342.4(SLC4A1):c.697C>G (p.Arg233Gly)SNV Uncertain significance 323514 rs779054292 17:42336710-42336710 17:44259342-44259342
29 SLC4A1 NM_000342.4(SLC4A1):c.202G>A (p.Glu68Lys)SNV Uncertain significance 323519 rs13306787 17:42338150-42338150 17:44260782-44260782
30 SLC4A1 NM_000342.4(SLC4A1):c.*1596A>CSNV Uncertain significance 323480 rs886052990 17:42326230-42326230 17:44248862-44248862
31 SLC4A1 NM_000342.4(SLC4A1):c.*1316C>TSNV Uncertain significance 323482 rs886052991 17:42326510-42326510 17:44249142-44249142
32 SLC4A1 NM_000342.4(SLC4A1):c.*1273G>TSNV Uncertain significance 323484 rs769140134 17:42326553-42326553 17:44249185-44249185
33 SLC4A1 NM_000342.4(SLC4A1):c.*947C>GSNV Uncertain significance 323490 rs368389948 17:42326879-42326879 17:44249511-44249511
34 SLC4A1 NM_000342.4(SLC4A1):c.*872G>CSNV Uncertain significance 323492 rs886052994 17:42326954-42326954 17:44249586-44249586
35 SLC4A1 NM_000342.4(SLC4A1):c.*351G>TSNV Uncertain significance 323495 rs138242019 17:42327475-42327475 17:44250107-44250107
36 SLC4A1 NM_000342.4(SLC4A1):c.2482-9C>TSNV Uncertain significance 323502 rs886052995 17:42328709-42328709 17:44251341-44251341
37 SLC4A1 NM_000342.4(SLC4A1):c.2243G>A (p.Gly748Glu)SNV Uncertain significance 323503 rs886052996 17:42330554-42330554 17:44253186-44253186
38 SLC4A1 NM_000342.4(SLC4A1):c.2630T>C (p.Ile877Thr)SNV Uncertain significance 323501 rs765911147 17:42328552-42328552 17:44251184-44251184
39 SLC4A1 NM_000342.4(SLC4A1):c.457C>A (p.Leu153Met)SNV Uncertain significance 323516 rs145041032 17:42337800-42337800 17:44260432-44260432
40 SLC4A1 NM_000342.4(SLC4A1):c.-30C>TSNV Uncertain significance 323521 rs148028272 17:42340264-42340264 17:44262896-44262896
41 SLC4A1 NM_000342.4(SLC4A1):c.-65C>ASNV Uncertain significance 323523 rs886053001 17:42340299-42340299 17:44262931-44262931
42 SLC4A1 NM_000342.4(SLC4A1):c.-135G>ASNV Uncertain significance 323524 rs183529485 17:42345488-42345488 17:44268120-44268120
43 G6PD NM_001360016.2(G6PD):c.1096A>G (p.Lys366Glu)SNV Uncertain significance 374205 rs1057518975 X:153760973-153760973 X:154532758-154532758
44 SLC4A1 NM_000342.4(SLC4A1):c.*349G>ASNV Likely benign 323496 rs1465204 17:42327477-42327477 17:44250109-44250109
45 SLC4A1 NM_000342.4(SLC4A1):c.*335G>ASNV Likely benign 323497 rs13306777 17:42327491-42327491 17:44250123-44250123
46 SLC4A1 NM_000342.4(SLC4A1):c.*333C>ASNV Likely benign 323498 rs2072081 17:42327493-42327493 17:44250125-44250125
47 SLC4A1 NM_000342.4(SLC4A1):c.*1227A>CSNV Likely benign 323486 rs141425539 17:42326599-42326599 17:44249231-44249231
48 SLC4A1 NM_000342.4(SLC4A1):c.*408C>TSNV Likely benign 323494 rs45555735 17:42327418-42327418 17:44250050-44250050
49 SLC4A1 NM_000342.4(SLC4A1):c.*1568G>ASNV Likely benign 323481 rs5033 17:42326258-42326258 17:44248890-44248890
50 SLC4A1 NM_000342.4(SLC4A1):c.*794deldeletion Likely benign 323493 rs45515496 17:42327032-42327032 17:44249664-44249664
51 SLC4A1 NM_000342.4(SLC4A1):c.*270G>ASNV Likely benign 323499 rs5027 17:42327556-42327556 17:44250188-44250188
52 SLC4A1 NM_000342.4(SLC4A1):c.*135G>ASNV Likely benign 323500 rs566741511 17:42327691-42327691 17:44250323-44250323
53 SLC4A1 NM_000342.4(SLC4A1):c.*1103deldeletion Likely benign 323488 rs111655803 17:42326723-42326723 17:44249355-44249355
54 SLC4A1 NM_000342.4(SLC4A1):c.*1721G>ASNV Likely benign 323475 rs62078947 17:42326105-42326105 17:44248737-44248737
55 SLC4A1 NM_000342.4(SLC4A1):c.*897G>ASNV Likely benign 323491 rs5030 17:42326929-42326929 17:44249561-44249561
56 SLC4A1 NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu)SNV Benign/Likely benign 17768 rs2285644 17:42328621-42328621 17:44251253-44251253
57 SLC4A1 NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu)SNV Benign/Likely benign 17752 rs5036 17:42338945-42338945 17:44261577-44261577
58 SLC4A1 NM_000342.4(SLC4A1):c.2712C>T (p.Tyr904=)SNV Benign/Likely benign 255913 rs45519733 17:42327850-42327850 17:44250482-44250482
59 SLC4A1 NM_000342.4(SLC4A1):c.2688T>C (p.Asp896=)SNV Benign/Likely benign 255912 rs45497993 17:42327874-42327874 17:44250506-44250506
60 SLC4A1 NM_000342.4(SLC4A1):c.2584G>A (p.Val862Ile)SNV Benign/Likely benign 255911 rs5026 17:42328598-42328598 17:44251230-44251230
61 SLC4A1 NM_000342.4(SLC4A1):c.1953C>T (p.His651=)SNV Benign/Likely benign 255909 rs5021 17:42331968-42331968 17:44254600-44254600
62 SLC4A1 NM_000342.4(SLC4A1):c.1770G>A (p.Lys590=)SNV Benign/Likely benign 255907 rs35807245 17:42333071-42333071 17:44255703-44255703
63 SLC4A1 NM_000342.4(SLC4A1):c.1323G>A (p.Leu441=)SNV Benign/Likely benign 255905 rs5017 17:42335135-42335135 17:44257767-44257767
64 SLC4A1 NM_000342.4(SLC4A1):c.1249C>T (p.Leu417=)SNV Benign/Likely benign 255904 rs5015 17:42335387-42335387 17:44258019-44258019
65 SLC4A1 NM_000342.4(SLC4A1):c.924G>A (p.Leu308=)SNV Benign/Likely benign 255915 rs5013 17:42335944-42335944 17:44258576-44258576
66 SLC4A1 NM_000342.4(SLC4A1):c.113A>C (p.Asp38Ala)SNV Benign/Likely benign 255903 rs5035 17:42338998-42338998 17:44261630-44261630
67 SLC4A1 NM_000342.4(SLC4A1):c.16-14G>ASNV Benign/Likely benign 255906 rs145502796 17:42340108-42340108 17:44262740-44262740
68 SLC4A1 NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp)SNV Benign/Likely benign 323518 rs13306788 17:42338136-42338136 17:44260768-44260768
69 SLC4A1 NM_000342.4(SLC4A1):c.1878T>C (p.Asp626=)SNV Benign/Likely benign 323506 rs5020 17:42332587-42332587 17:44255219-44255219
70 SLC4A1 NM_000342.4(SLC4A1):c.1314G>A (p.Ser438=)SNV Benign/Likely benign 323510 rs13306781 17:42335144-42335144 17:44257776-44257776

Expression for Rare Hemolytic Anemia

Search GEO for disease gene expression data for Rare Hemolytic Anemia.

Pathways for Rare Hemolytic Anemia

Pathways related to Rare Hemolytic Anemia according to GeneCards Suite gene sharing:

(showing 1, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.73 SPTB HBB

GO Terms for Rare Hemolytic Anemia

Sources for Rare Hemolytic Anemia

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
Content
Loading form....