MCID: OBS097
MIFTS: 21

Obsolete: Heinz Body Anemia

Categories: Rare diseases

Aliases & Classifications for Obsolete: Heinz Body Anemia

MalaCards integrated aliases for Obsolete: Heinz Body Anemia:

Name: Obsolete: Heinz Body Anemia 58

Characteristics:

Orphanet epidemiological data:

58
obsolete: heinz body anemia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

Classifications:



External Ids:

Orphanet 58 ORPHA178330

Summaries for Obsolete: Heinz Body Anemia

MalaCards based summary : Obsolete: Heinz Body Anemia is related to glutathione peroxidase deficiency and methemoglobinemia, beta-globin type. An important gene associated with Obsolete: Heinz Body Anemia is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Folate Metabolism and Binding and Uptake of Ligands by Scavenger Receptors.

Related Diseases for Obsolete: Heinz Body Anemia

Diseases related to Obsolete: Heinz Body Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 glutathione peroxidase deficiency 9.7 HBB HBA1
2 methemoglobinemia, beta-globin type 9.7 HBB HBA1
3 heinz body anemias 9.7 HBB HBA1
4 hydrops fetalis, nonimmune 9.7 HBB HBA1
5 hypochromic microcytic anemia 9.7 HBB HBA1
6 microcytic anemia 9.6 HBB HBA1
7 hemoglobin h disease 9.6 HBB HBA1
8 hemoglobinopathy 9.6 HBB HBA1
9 sickle cell anemia 9.6 HBB HBA1
10 alpha-thalassemia 9.6 HBB HBA1
11 thalassemia 9.5 HBB HBA1
12 beta-thalassemia 9.5 HBB HBA1
13 hemolytic anemia 9.4 HBB HBA1
14 deficiency anemia 9.2 HBB HBA1

Graphical network of the top 20 diseases related to Obsolete: Heinz Body Anemia:



Diseases related to Obsolete: Heinz Body Anemia

Symptoms & Phenotypes for Obsolete: Heinz Body Anemia

Drugs & Therapeutics for Obsolete: Heinz Body Anemia

Search Clinical Trials , NIH Clinical Center for Obsolete: Heinz Body Anemia

Genetic Tests for Obsolete: Heinz Body Anemia

Anatomical Context for Obsolete: Heinz Body Anemia

Publications for Obsolete: Heinz Body Anemia

Articles related to Obsolete: Heinz Body Anemia:

(show all 32)
# Title Authors PMID Year
1
Hb A2-Monreale [delta146(HC3)His-->Arg], a novel delta chain variant detected in west Sicily. 6
11939506 2002
2
Hb Bibba or alpha 2 136(H19)Leu-->Pro beta 2 in a Caucasian family from Alabama. 6
7558871 1995
3
Initiation codon mutation (ATG --> ATA) of the beta-globin gene causing beta-thalassemia in a Swedish family. 6
7864023 1995
4
Hemoglobin Terre Haute arginine beta 106. A posthumous correction to the original structure of hemoglobin Indianapolis. 6
2005117 1991
5
Hb Bruxelles: alpha 2A beta (2)41 or 42(C7 or CD1)Phe deleted. 6
2599881 1989
6
Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. 6
3260032 1988
7
Hyperunstable hemoglobin Toyama [alpha 2 136(H19)Leu----Arg beta 2]: detection and identification by in vitro biosynthesis with radioactive amino acids. 6
2833478 1987
8
Hemoglobin Köln: direct analysis of the gene mutation by synthetic DNA probes. 6
3768534 1986
9
A case of hemoglobin Indianapolis [beta 112(G14) Cys----Arg] in an individual from Cordoba, Spain. 6
3781865 1986
10
Hb Saint Louis or alpha 2 beta 2(28)(B10)Leu----Gln in a Czechoslovakian male. 6
3557999 1986
11
Hb Tacoma [beta 30(B12) Arg----Ser], a slightly unstable hemoglobin variant found in Japan. 6
3937827 1985
12
beta 0 thalassemia, a nonsense mutation in man. 6
88735 1979
13
Hemoglobin J Altgeld Gardens. A hemoglobin variant with a substitution of the proximal histidine of the beta-chain. 6
721609 1978
14
Functional and physicochemical studies of hemoglobin St. Louis beta 28 (B10) Leu replaced by Gln: a variant with ferric beta heme iron. 6
186485 1976
15
A Swiss family with hemoglobin P Galveston beta117His leads to Arg, including two patients with hb P/beta thalassemia. 6
1164567 1975
16
Hemoglobin Toluchi: beta 131 glutamine leads to glutamic acid, an example of Hb Camden in Japan. 6
1173714 1975
17
"In vitro" normal biosynthesis of an unstable ferri-hemoglobin: hemoglobin Saint Louis B10 (beta28) leu yields gln. 6
4281476 1974
18
New unstable haemoglobin (Hb Moscva, beta24 (B4) Gly leads to Asp) found in the USSR. 6
4525423 1974
19
Hemoglobin San Diego (beta 109 (G11) val--met). Crystal structure of the deoxy form. 6
4808645 1974
20
Identical substitution in Hb Ube-1 and Hb Köln. 6
4514958 1973
21
Unstable haemoglobin Köln disease in members of a Malay family. 6
5079107 1972
22
Hemoglobin Köln disease occurring as a fresh mutation: erythrocyte metabolism and survival. 6
4942314 1971
23
Structural characterization of hemoglobin Tacoma. 6
5785231 1969
24
Haemoglobin Leiden: deletion of beta-6 or 7 glutamic acid. 6
5698750 1968
25
Hemoglobin-Bibba or alpha-2-136Pro-beta 2, an unstable alpha chain abnormal hemoglobin. 6
5639009 1968
26
Haemoglobin sydney: Beta-67 (E11) valine modified to alanine: an emerging pattern of unstable haemoglobins. 6
6050213 1967
27
A West Australian family with a haemolytic disorder associated with haemoglobin Köln. 6
6029950 1967
28
Köln haemoglobinopathy. Further data and a comparison with other hereditary Heinz body anaemias. 6
6067323 1967
29
[Hemoglobin Köln disease: familial hypochromic hemolytic anemia with hemoglobin anomaly]. 6
5881530 1965
30
Hemoglobin M disease in Japan. 6
5856115 1965
31
Hemoglobin tacoma--a beta-chain variant associated with increased hb A2. 6
5869485 1965
32
HEREDITARY HEINZ-BODY ANAEMIA, THROMBOCYTOPENIA, AND HAEMOGLOBINOPATHY (HB KOELN) IN A GLASGOW FAMILY. 6
14198723 1964

Variations for Obsolete: Heinz Body Anemia

ClinVar genetic disease variations for Obsolete: Heinz Body Anemia:

6 (show all 20) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HBB NM_000518.5(HBB):c.52A>T (p.Lys18Ter)SNV Pathogenic 15401 rs33986703 11:5248200-5248200 11:5226970-5226970
2 HBB NM_000518.5(HBB):c.118C>T (p.Gln40Ter)SNV Pathogenic 15402 rs11549407 11:5248004-5248004 11:5226774-5226774
3 HBB NM_000518.5(HBB):c.92+1G>ASNV Pathogenic 15436 rs33971440 11:5248159-5248159 11:5226929-5226929
4 HBB NM_000518.5(HBB):c.315+1G>ASNV Pathogenic 15438 rs33945777 11:5247806-5247806 11:5226576-5226576
5 HBB NM_000518.5(HBB):c.92+5G>CSNV Pathogenic 15447 rs33915217 11:5248155-5248155 11:5226925-5226925
6 HBB NM_000518.5(HBB):c.92+6T>CSNV Pathogenic 15450 rs35724775 11:5248154-5248154 11:5226924-5226924
7 HBB NM_000518.5(HBB):c.93-21G>ASNV Pathogenic 15454 rs35004220 11:5248050-5248050 11:5226820-5226820
8 HBB NM_000518.5(HBB):c.316-106C>GSNV Pathogenic 15457 rs34690599 11:5247062-5247062 11:5225832-5225832
9 HBB NM_000518.5(HBB):c.-79A>GSNV Pathogenic 15469 rs34598529 11:5248330-5248330 11:5227100-5227100
10 HBA1 , HBA2 , LOC106804612 NM_000517.6(HBA2):c.410T>C (p.Leu137Pro)SNV Pathogenic 15655 rs41469945 16:223580-223580 16:173581-173581
11 HBA1 NM_000558.5(HBA1):c.410T>G (p.Leu137Arg)SNV Pathogenic 15828 rs34635364 16:227391-227391 16:177392-177392
12 HBB NM_000518.5(HBB):c.127_129del (p.Phe43del)deletion Pathogenic 15121 rs41417446 11:5247993-5247995 11:5226763-5226765
13 HBB NM_000518.5(HBB):c.128T>C (p.Phe43Ser)SNV Pathogenic 15190 rs34378160 11:5247994-5247994 11:5226764-5226764
14 HBB NM_000518.5(HBB):c.337T>C (p.Cys113Arg)SNV Pathogenic 15207 rs35849199 11:5246935-5246935 11:5225705-5225705
15 HBB NM_000518.5(HBB):c.295G>A (p.Val99Met)SNV Pathogenic 15241 rs33933298 11:5247827-5247827 11:5226597-5226597
16 HBB NM_000518.5(HBB):c.20A>T (p.Glu7Val)SNV Pathogenic 15333 rs334 11:5248232-5248232 11:5227002-5227002
17 HBB NM_000518.4(HBB):c.86T>A (p.Leu29Gln)SNV Pathogenic 15361 rs33916412 11:5248166-5248166 11:5226936-5226936
18 HBB NM_000518.5(HBB):c.-137C>ASNV Pathogenic/Likely pathogenic 36285 rs33941377 11:5248388-5248388 11:5227158-5227158
19 HBB NM_000518.5(HBB):c.-138C>ASNV Pathogenic/Likely pathogenic 393701 rs33944208 11:5248389-5248389 11:5227159-5227159
20 HBB NM_000518.5(HBB):c.93G>T (p.Arg31Ser)SNV Uncertain significance 15368 rs1135071 11:5248029-5248029 11:5226799-5226799

Expression for Obsolete: Heinz Body Anemia

Search GEO for disease gene expression data for Obsolete: Heinz Body Anemia.

Pathways for Obsolete: Heinz Body Anemia

GO Terms for Obsolete: Heinz Body Anemia

Cellular components related to Obsolete: Heinz Body Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.26 HBB HBA1
2 endocytic vesicle lumen GO:0071682 9.16 HBB HBA1
3 hemoglobin complex GO:0005833 8.96 HBB HBA1
4 haptoglobin-hemoglobin complex GO:0031838 8.62 HBB HBA1

Biological processes related to Obsolete: Heinz Body Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.4 HBB HBA1
2 cellular oxidant detoxification GO:0098869 9.37 HBB HBA1
3 response to hydrogen peroxide GO:0042542 9.32 HBB HBA1
4 positive regulation of cell death GO:0010942 9.26 HBB HBA1
5 bicarbonate transport GO:0015701 9.16 HBB HBA1
6 hydrogen peroxide catabolic process GO:0042744 8.96 HBB HBA1
7 oxygen transport GO:0015671 8.62 HBB HBA1

Molecular functions related to Obsolete: Heinz Body Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.37 HBB HBA1
2 peroxidase activity GO:0004601 9.32 HBB HBA1
3 oxygen binding GO:0019825 9.26 HBB HBA1
4 oxygen carrier activity GO:0005344 9.16 HBB HBA1
5 organic acid binding GO:0043177 8.96 HBB HBA1
6 haptoglobin binding GO:0031720 8.62 HBB HBA1

Sources for Obsolete: Heinz Body 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
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