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:

# 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 (show top 50) (show all 141) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SPTB NM_001355436.2(SPTB):c.5794_5798+6deldeletion Pathogenic 523359 rs1555367318 14:65237597-65237607 14:64770879-64770889
2 HBB NM_000518.5(HBB):c.127T>C (p.Phe43Leu)SNV Pathogenic 15251 rs33924146 11:5247995-5247995 11:5226765-5226765
3 HBB NM_000518.4(HBB):c.127T>G (p.Phe43Val)SNV Pathogenic 15347 rs33924146 11:5247995-5247995 11:5226765-5226765
4 PKLR NM_000298.6(PKLR):c.1291G>A (p.Ala431Thr)SNV Likely pathogenic 812888 1:155263113-155263113 1:155293322-155293322
5 SPTA1 NM_003126.4(SPTA1):c.4177C>T (p.Gln1393Ter)SNV Likely pathogenic 812889 1:158614995-158614995 1:158645205-158645205
6 SPTA1 NM_003126.4(SPTA1):c.2353C>T (p.Arg785Ter)SNV Likely pathogenic 812891 1:158632603-158632603 1:158662813-158662813
7 SLC4A1 NM_000342.4(SLC4A1):c.733G>A (p.Val245Met)SNV Conflicting interpretations of pathogenicity 854724 17:42336674-42336674 17:44259306-44259306
8 SLC4A1 NM_000342.4(SLC4A1):c.2193C>T (p.Ser731=)SNV Conflicting interpretations of pathogenicity 737923 17:42330604-42330604 17:44253236-44253236
9 SLC4A1 NM_000342.4(SLC4A1):c.*5C>TSNV Conflicting interpretations of pathogenicity 891768 17:42327821-42327821 17:44250453-44250453
10 SLC4A1 NM_000342.4(SLC4A1):c.*1393A>TSNV Conflicting interpretations of pathogenicity 891315 17:42326433-42326433 17:44249065-44249065
11 SLC4A1 NM_000342.4(SLC4A1):c.486-10C>TSNV Conflicting interpretations of pathogenicity 892040 17:42337310-42337310 17:44259942-44259942
12 SLC4A1 NM_000342.4(SLC4A1):c.1151G>A (p.Arg384His)SNV Conflicting interpretations of pathogenicity 890178 17:42335485-42335485 17:44258117-44258117
13 SLC4A1 NM_000342.4(SLC4A1):c.826A>G (p.Ile276Val)SNV Conflicting interpretations of pathogenicity 891993 17:42336581-42336581 17:44259213-44259213
14 SLC4A1 NM_000342.4(SLC4A1):c.719C>T (p.Pro240Leu)SNV Conflicting interpretations of pathogenicity 889578 17:42336688-42336688 17:44259320-44259320
15 SLC4A1 NM_000342.4(SLC4A1):c.706T>G (p.Phe236Val)SNV Conflicting interpretations of pathogenicity 889579 17:42336701-42336701 17:44259333-44259333
16 SLC4A1 NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln)SNV Conflicting interpretations of pathogenicity 17782 rs121912757 17:42331984-42331984 17:44254616-44254616
17 SLC4A1 NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu)SNV Conflicting interpretations of pathogenicity 17783 rs121912759 17:42328579-42328579 17:44251211-44251211
18 SLC4A1 NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp)SNV Conflicting interpretations of pathogenicity 64423 rs201265160 17:42327861-42327861 17:44250493-44250493
19 SPTA1 NM_003126.4(SPTA1):c.6549-12G>ASNV Conflicting interpretations of pathogenicity 258955 rs857716 1:158587390-158587390 1:158617600-158617600
20 SPTA1 NM_003126.4(SPTA1):c.6531-12C>TSNV Conflicting interpretations of pathogenicity 258954 rs28525570 1:158587858-158587858 1:158618068-158618068
21 SLC4A1 NM_000342.4(SLC4A1):c.2625G>A (p.Pro875=)SNV Conflicting interpretations of pathogenicity 890020 17:42328557-42328557 17:44251189-44251189
22 SLC4A1 NM_000342.4(SLC4A1):c.2547G>A (p.Val849=)SNV Conflicting interpretations of pathogenicity 891836 17:42328635-42328635 17:44251267-44251267
23 SLC4A1 NM_000342.4(SLC4A1):c.2401A>C (p.Ser801Arg)SNV Conflicting interpretations of pathogenicity 889392 17:42328867-42328867 17:44251499-44251499
24 SLC4A1 NM_000342.4(SLC4A1):c.1971C>T (p.Ser657=)SNV Conflicting interpretations of pathogenicity 890659 17:42331950-42331950 17:44254582-44254582
25 SLC4A1 NM_000342.4(SLC4A1):c.1928C>T (p.Ser643Phe)SNV Conflicting interpretations of pathogenicity 889445 17:42331993-42331993 17:44254625-44254625
26 SLC4A1 NM_000342.4(SLC4A1):c.1671G>A (p.Val557=)SNV Conflicting interpretations of pathogenicity 890131 17:42333170-42333170 17:44255802-44255802
27 SLC4A1 NM_000342.4(SLC4A1):c.672A>G (p.Ser224=)SNV Conflicting interpretations of pathogenicity 890231 17:42336887-42336887 17:44259519-44259519
28 SLC4A1 NM_000342.4(SLC4A1):c.615T>C (p.Asp205=)SNV Conflicting interpretations of pathogenicity 890797 17:42336944-42336944 17:44259576-44259576
29 SLC4A1 NM_000342.4(SLC4A1):c.567C>G (p.Leu189=)SNV Conflicting interpretations of pathogenicity 890798 17:42337219-42337219 17:44259851-44259851
30 SLC4A1 NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys)SNV Conflicting interpretations of pathogenicity 17756 rs45562031 17:42338993-42338993 17:44261625-44261625
31 SLC4A1 NM_000342.4(SLC4A1):c.1972G>A (p.Glu658Lys)SNV Conflicting interpretations of pathogenicity 17759 rs75731670 17:42331949-42331949 17:44254581-44254581
32 SLC4A1 NM_000342.4(SLC4A1):c.539G>A (p.Arg180His)SNV Conflicting interpretations of pathogenicity 255914 rs147390654 17:42337247-42337247 17:44259879-44259879
33 SLC4A1 NM_000342.4(SLC4A1):c.173A>G (p.Tyr58Cys)SNV Conflicting interpretations of pathogenicity 323520 rs368863744 17:42338179-42338179 17:44260811-44260811
34 SLC4A1 NM_000342.4(SLC4A1):c.2630T>C (p.Ile877Thr)SNV Conflicting interpretations of pathogenicity 323501 rs765911147 17:42328552-42328552 17:44251184-44251184
35 SLC4A1 NM_000342.4(SLC4A1):c.2208C>T (p.Asn736=)SNV Conflicting interpretations of pathogenicity 323505 rs766674440 17:42330589-42330589 17:44253221-44253221
36 SLC4A1 NM_000342.4(SLC4A1):c.884G>A (p.Arg295His)SNV Conflicting interpretations of pathogenicity 323512 rs140424071 17:42335984-42335984 17:44258616-44258616
37 SLC4A1 NM_000342.4(SLC4A1):c.202G>A (p.Glu68Lys)SNV Conflicting interpretations of pathogenicity 323519 rs13306787 17:42338150-42338150 17:44260782-44260782
38 SLC4A1 NM_000342.4(SLC4A1):c.*351G>TSNV Conflicting interpretations of pathogenicity 323495 rs138242019 17:42327475-42327475 17:44250107-44250107
39 SLC4A1 NM_000342.4(SLC4A1):c.457C>A (p.Leu153Met)SNV Conflicting interpretations of pathogenicity 323516 rs145041032 17:42337800-42337800 17:44260432-44260432
40 SLC4A1 NM_000342.4(SLC4A1):c.-65C>ASNV Uncertain significance 323523 rs886053001 17:42340299-42340299 17:44262931-44262931
41 SLC4A1 NM_000342.4(SLC4A1):c.2482-9C>TSNV Uncertain significance 323502 rs886052995 17:42328709-42328709 17:44251341-44251341
42 SLC4A1 NM_000342.4(SLC4A1):c.2243G>A (p.Gly748Glu)SNV Uncertain significance 323503 rs886052996 17:42330554-42330554 17:44253186-44253186
43 SLC4A1 NM_000342.4(SLC4A1):c.*1596A>CSNV Uncertain significance 323480 rs886052990 17:42326230-42326230 17:44248862-44248862
44 SLC4A1 NM_000342.4(SLC4A1):c.*1316C>TSNV Uncertain significance 323482 rs886052991 17:42326510-42326510 17:44249142-44249142
45 SLC4A1 NM_000342.4(SLC4A1):c.876+14G>ASNV Uncertain significance 323513 rs571092411 17:42336517-42336517 17:44259149-44259149
46 SLC4A1 NM_000342.4(SLC4A1):c.697C>G (p.Arg233Gly)SNV Uncertain significance 323514 rs779054292 17:42336710-42336710 17:44259342-44259342
47 SLC4A1 NM_000342.4(SLC4A1):c.1431+15G>TSNV Uncertain significance 323508 rs886052999 17:42335012-42335012 17:44257644-44257644
48 G6PD NM_001360016.2(G6PD):c.1096A>G (p.Lys366Glu)SNV Uncertain significance 374205 rs1057518975 X:153760973-153760973 X:154532758-154532758
49 SLC4A1 NM_000342.4(SLC4A1):c.*1608dupduplication Uncertain significance 323477 rs57466226 17:42326217-42326218 17:44248849-44248850
50 SLC4A1 NM_000342.4(SLC4A1):c.*1273G>TSNV Uncertain significance 323484 rs769140134 17:42326553-42326553 17:44249185-44249185

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 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
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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
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