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 59

Classifications:



External Ids:

UMLS via Orphanet 73 C0002878
Orphanet 59 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 spherocytosis, type 2. 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:

41
Spleen

Publications for Rare Hemolytic Anemia

Articles related to Rare Hemolytic Anemia:

# Title Authors PMID Year
1
The burden of disease in pyruvate kinase deficiency: Patients' perception of the impact on health-related quality of life. 38
29935049 2018
2
Hemolytic anemia caused by aortic flap and inversion of felt strip after ascending aorta replacement. 38
27484121 2016
3
[Management of pregnancy and delivery in patients with paroxysmal nocturnal hemoglobinuria]. 38
26251141 2015
4
[Erythrocyte membrane abnormalities - hereditary elliptocytosis]. 38
25953944 2015
5
Nonimmune hydrops fetalis due to congenital xerocytosis. 38
15608620 2005
6
In utero erythrocyte transfusion for fetal xerocytosis associated with severe anemia and non-immune hydrops fetalis. 38
11483935 2001
7
Abnormal spectrin in hereditary elliptocytosis. 38
3940543 1986
8
Hereditary xerocytosis. A case history and review of the literature. 38
6462778 1984
9
Perioperative management of patients with paroxysmal nocturnal hemoglobinuria. 38
6169165 1981
10
Fine structures of the spleen in hereditary elliptocytosis. 38
998237 1976

Variations for Rare Hemolytic Anemia

ClinVar genetic disease variations for Rare Hemolytic Anemia:

6 (show top 50) (show all 70)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SPTB NM_001024858.3(SPTB): c.5794_5798+6delCCCAGGTGAGG deletion Pathogenic rs1555367318 14:65237597-65237607 14:64770879-64770889
2 HBB NM_000518.5(HBB): c.127T> C (p.Phe43Leu) single nucleotide variant Pathogenic rs33924146 11:5247995-5247995 11:5226765-5226765
3 HBB NM_000518.4(HBB): c.127T> G (p.Phe43Val) single nucleotide variant Pathogenic rs33924146 11:5247995-5247995 11:5226765-5226765
4 SLC4A1 NM_000342.3(SLC4A1): c.118G> A (p.Glu40Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs45562031 17:42338993-42338993 17:44261625-44261625
5 SLC4A1 NM_000342.4(SLC4A1): c.*1832G> A single nucleotide variant Uncertain significance rs886052988 17:42325994-42325994 17:44248626-44248626
6 SLC4A1 NM_000342.4(SLC4A1): c.*1676A> G single nucleotide variant Uncertain significance rs745898810 17:42326150-42326150 17:44248782-44248782
7 SLC4A1 NM_000342.4(SLC4A1): c.*1606_*1608dup duplication Uncertain significance rs57466226 17:42326218-42326220 17:44248850-44248852
8 SLC4A1 NM_000342.4(SLC4A1): c.*1608del deletion Uncertain significance rs57466226 17:42326218-42326218 17:44248850-44248850
9 SLC4A1 NM_000342.4(SLC4A1): c.*1198A> T single nucleotide variant Uncertain significance rs886052992 17:42326628-42326628 17:44249260-44249260
10 SLC4A1 NM_000342.4(SLC4A1): c.2701C> T (p.Arg901Trp) single nucleotide variant Uncertain significance rs201265160 17:42327861-42327861 17:44250493-44250493
11 SLC4A1 NM_000342.4(SLC4A1): c.457C> A (p.Leu153Met) single nucleotide variant Uncertain significance rs145041032 17:42337800-42337800 17:44260432-44260432
12 SLC4A1 NM_000342.4(SLC4A1): c.-30C> T single nucleotide variant Uncertain significance rs148028272 17:42340264-42340264 17:44262896-44262896
13 SLC4A1 NM_000342.4(SLC4A1): c.-65C> A single nucleotide variant Uncertain significance rs886053001 17:42340299-42340299 17:44262931-44262931
14 SLC4A1 NM_000342.4(SLC4A1): c.-135G> A single nucleotide variant Uncertain significance rs183529485 17:42345488-42345488 17:44268120-44268120
15 G6PD NM_000402.4(G6PD): c.1186A> G (p.Lys396Glu) single nucleotide variant Uncertain significance rs1057518975 X:153760973-153760973 X:154532758-154532758
16 SLC4A1 NM_000342.4(SLC4A1): c.*1596A> C single nucleotide variant Uncertain significance rs886052990 17:42326230-42326230 17:44248862-44248862
17 SLC4A1 NM_000342.4(SLC4A1): c.*1316C> T single nucleotide variant Uncertain significance rs886052991 17:42326510-42326510 17:44249142-44249142
18 SLC4A1 NM_000342.4(SLC4A1): c.*351G> T single nucleotide variant Uncertain significance rs138242019 17:42327475-42327475 17:44250107-44250107
19 SLC4A1 NM_000342.4(SLC4A1): c.2482-9C> T single nucleotide variant Uncertain significance rs886052995 17:42328709-42328709 17:44251341-44251341
20 SLC4A1 NM_000342.4(SLC4A1): c.2243G> A (p.Gly748Glu) single nucleotide variant Uncertain significance rs886052996 17:42330554-42330554 17:44253186-44253186
21 SLC4A1 NM_000342.4(SLC4A1): c.2210C> T (p.Ala737Val) single nucleotide variant Uncertain significance rs886052997 17:42330587-42330587 17:44253219-44253219
22 SLC4A1 NM_000342.4(SLC4A1): c.1637A> G (p.Asp546Gly) single nucleotide variant Uncertain significance rs886052998 17:42333204-42333204 17:44255836-44255836
23 SLC4A1 NM_000342.4(SLC4A1): c.636A> G (p.Ser212=) single nucleotide variant Uncertain significance rs886053000 17:42336923-42336923 17:44259555-44259555
24 SLC4A1 NM_000342.4(SLC4A1): c.286C> T (p.Arg96Cys) single nucleotide variant Uncertain significance rs538778224 17:42338066-42338066 17:44260698-44260698
25 SLC4A1 NM_000342.4(SLC4A1): c.*977G> A single nucleotide variant Uncertain significance rs886052993 17:42326849-42326849 17:44249481-44249481
26 SLC4A1 NM_000342.4(SLC4A1): c.1431+13T> G single nucleotide variant Uncertain significance rs747632229 17:42335014-42335014 17:44257646-44257646
27 SLC4A1 NM_000342.4(SLC4A1): c.1225G> A (p.Val409Ile) single nucleotide variant Uncertain significance rs201821517 17:42335411-42335411 17:44258043-44258043
28 SLC4A1 NM_000342.4(SLC4A1): c.173A> G (p.Tyr58Cys) single nucleotide variant Uncertain significance rs368863744 17:42338179-42338179 17:44260811-44260811
29 SLC4A1 NM_000342.4(SLC4A1): c.-60G> A single nucleotide variant Uncertain significance rs75489266 17:42340294-42340294 17:44262926-44262926
30 SLC4A1 NM_000342.4(SLC4A1): c.-136C> T single nucleotide variant Uncertain significance rs566359654 17:42345489-42345489 17:44268121-44268121
31 SLC4A1 NM_000342.4(SLC4A1): c.*1608dup duplication Uncertain significance rs57466226 17:42326218-42326218 17:44248850-44248850
32 SLC4A1 NM_000342.4(SLC4A1): c.*1273G> T single nucleotide variant Uncertain significance rs769140134 17:42326553-42326553 17:44249185-44249185
33 SLC4A1 NM_000342.4(SLC4A1): c.*947C> G single nucleotide variant Uncertain significance rs368389948 17:42326879-42326879 17:44249511-44249511
34 SLC4A1 NM_000342.4(SLC4A1): c.*872G> C single nucleotide variant Uncertain significance rs886052994 17:42326954-42326954 17:44249586-44249586
35 SLC4A1 NM_000342.4(SLC4A1): c.2630T> C (p.Ile877Thr) single nucleotide variant Uncertain significance rs765911147 17:42328552-42328552 17:44251184-44251184
36 SLC4A1 NM_000342.4(SLC4A1): c.2208C> T (p.Asn736=) single nucleotide variant Uncertain significance rs766674440 17:42330589-42330589 17:44253221-44253221
37 SLC4A1 NM_000342.4(SLC4A1): c.1431+15G> T single nucleotide variant Uncertain significance rs886052999 17:42335012-42335012 17:44257644-44257644
38 SLC4A1 NM_000342.4(SLC4A1): c.884G> A (p.Arg295His) single nucleotide variant Uncertain significance rs140424071 17:42335984-42335984 17:44258616-44258616
39 SLC4A1 NM_000342.4(SLC4A1): c.876+14G> A single nucleotide variant Uncertain significance rs571092411 17:42336517-42336517 17:44259149-44259149
40 SLC4A1 NM_000342.4(SLC4A1): c.697C> G (p.Arg233Gly) single nucleotide variant Uncertain significance rs779054292 17:42336710-42336710 17:44259342-44259342
41 SLC4A1 NM_000342.4(SLC4A1): c.202G> A (p.Glu68Lys) single nucleotide variant Uncertain significance rs13306787 17:42338150-42338150 17:44260782-44260782
42 SLC4A1 NM_000342.4(SLC4A1): c.*1273del deletion Uncertain significance rs768606768 17:42326553-42326553 17:44249185-44249185
43 SLC4A1 NM_000342.4(SLC4A1): c.*1237C> T single nucleotide variant Uncertain significance rs774513767 17:42326589-42326589 17:44249221-44249221
44 SLC4A1 NM_000342.4(SLC4A1): c.*1103del deletion Likely benign rs111655803 17:42326723-42326723 17:44249355-44249355
45 SLC4A1 NM_000342.4(SLC4A1): c.*335G> A single nucleotide variant Likely benign rs13306777 17:42327491-42327491 17:44250123-44250123
46 SLC4A1 NM_000342.4(SLC4A1): c.*333C> A single nucleotide variant Likely benign rs2072081 17:42327493-42327493 17:44250125-44250125
47 SLC4A1 NM_000342.4(SLC4A1): c.*1568G> A single nucleotide variant Likely benign rs5033 17:42326258-42326258 17:44248890-44248890
48 SLC4A1 NM_000342.4(SLC4A1): c.*794del deletion Likely benign rs45515496 17:42327032-42327032 17:44249664-44249664
49 SLC4A1 NM_000342.4(SLC4A1): c.*270G> A single nucleotide variant Likely benign rs5027 17:42327556-42327556 17:44250188-44250188
50 SLC4A1 NM_000342.4(SLC4A1): c.*135G> A single nucleotide variant Likely benign rs566741511 17:42327691-42327691 17:44250323-44250323

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:

# 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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