MCID: HNZ001
MIFTS: 44

Heinz Body Anemia malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for Heinz Body Anemia

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MalaCards based summary: Heinz Body Anemia, also known as heinz body anemias, is related to hemoglobinopathy and methemoglobinemia, and has symptoms including autosomal dominant inheritance, nonspherocytic hemolytic anemia and abnormality of metabolism/homeostasis. An important gene associated with Heinz Body Anemia is HBB (hemoglobin, beta), and among its related pathways are Binding and Uptake of Ligands by Scavenger Receptors and African trypanosomiasis. The compounds 23-diphosphoglycerate and hmba have been mentioned in the context of this disorder. Affiliated tissues include spleen and liver.

Description from OMIM:47 140700

Aliases & Classifications for Heinz Body Anemia

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Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 49Orphanet, 24GTR, 62UMLS, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Heinz Body Anemia, Aliases & Descriptions:

Name: Heinz Body Anemia 47 11 49
Heinz Body Anemias 43 24 62
 
Heinz Body Anemias, Alpha- 47
Heinz Body Anemias, Beta- 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

49
heinz body anemia:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)


External Ids:

OMIM47 140700
Orphanet49 178330
ICD10 via Orphanet28 D58.2
UMLS via Orphanet63 C0700299

Related Diseases for Heinz Body Anemia

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



Diseases related to heinz body anemia

Symptoms for Heinz Body Anemia

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Symptoms by clinical synopsis from OMIM:

140700

Clinical features from OMIM:

140700

HPO human phenotypes related to Heinz Body Anemia:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 nonspherocytic hemolytic anemia HP:0001930
3 abnormality of metabolism/homeostasis HP:0001939

Drugs & Therapeutics for Heinz Body Anemia

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Drug clinical trials:

Search ClinicalTrials for Heinz Body Anemia

Search NIH Clinical Center for Heinz Body Anemia

Genetic Tests for Heinz Body Anemia

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Genetic tests related to Heinz Body Anemia:

id Genetic test Affiliating Genes
1 Heinz Body Anemias24

Anatomical Context for Heinz Body Anemia

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MalaCards organs/tissues related to Heinz Body Anemia:

33
Spleen, Liver

Animal Models for Heinz Body Anemia or affiliated genes

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Publications for Heinz Body Anemia

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Articles related to Heinz Body Anemia:

(show all 16)
idTitleAuthorsYear
1
Association of maximum voluntary dietary intake of freeze-dried garlic with Heinz body anemia in horses. (15822591)
2005
2
Heinz body anemia in a dog that had been sprayed with skunk musk. (15882003)
2005
3
Heinz body anemia in a dog following possible naphthalene ingestion. (12664426)
1995
4
A review of Heinz-body anemia in the dog induced by toxins. (8470361)
1993
5
Acute Heinz-body anemia due to severe cresol poisoning: successful treatment with erythrocytapheresis. (6722696)
1984
6
Heinz-body anemia: &quot;bite cell&quot; variant--a light and electron microscopic study. (6613984)
1983
7
Heinz body anemia and methemoglobinemia in ponies given red maple (acer rubrum L.) leaves. (7147611)
1982
8
Salicylazosulphapyridine-induced Heinz body anemia. (25555)
1978
9
Effect of hydrocortisone on phenylhydrazine-induced Heinz-body anemia. (688095)
1978
10
Pathological study on experimental Heinz body anemia: intracellular changes of phagocytized red cells in macrophages of the spleen and liver. (930587)
1977
11
Introduction to discussion of Heinz body anemias--unstable hemoglobinopathies. (4941678)
1971
12
Current concepts: Heinz-body anemias. (5782720)
1969
13
HEINZ BODY ANEMIA--AN ULTRASTRUCTURAL STUDY. I. HEINZ BODY FORMATION. (14294766)
1965
14
Heinz body anemia: an ultrastructural study. II. Red cell sequestration and destruction. (5825007)
1965
15
Oxidative hemolysis and precipitation of hemoglobin. I. Heinz body anemias as an acceleration of red cell aging. (13789379)
1960
16
Heinz body anemia and related phenomena. (13642237)
1959

Variations for Heinz Body Anemia

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Expression for genes affiliated with Heinz Body Anemia

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

Pathways for genes affiliated with Heinz Body Anemia

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Compounds for genes affiliated with Heinz Body Anemia

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Sources:
45Novoseek, 51PharmGKB, 13DrugBank, 30IUPHAR, 26HMDB
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Compounds related to Heinz Body Anemia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
123-diphosphoglycerate459.5HBB, HBA2
2hmba459.5HBB, HBA2
3hydroxyurea45 51 1311.4HBB, HBA2
4methionine459.3HBB, HBA2
5iron dextran45 1310.3HBB, HBA1
6valine459.2HBA2, HBB
7heme30 26 1311.0HBB, HBA1
8butyrate459.0HBB, HBA2
9iron45 269.7HBA1, HBA2, HBB
10oxygen45 269.6HBA1, HBA2, HBB

GO Terms for genes affiliated with Heinz Body Anemia

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Cellular components related to Heinz Body Anemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1haptoglobin-hemoglobin complexGO:00318389.3HBB, HBA2
2blood microparticleGO:00725629.3HBB, HBA2
3hemoglobin complexGO:00058339.2HBB, HBA2
4endocytic vesicle lumenGO:00716829.0HBB, HBA2

Biological processes related to Heinz Body Anemia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1oxygen transportGO:00156719.5HBB, HBA2
2hydrogen peroxide catabolic processGO:00427449.4HBB, HBA2
3positive regulation of cell deathGO:00109429.4HBB, HBA2
4bicarbonate transportGO:00157019.3HBA2, HBB
5oxidation-reduction processGO:00551149.3HBB, HBA2
6response to hydrogen peroxideGO:00425429.2HBB, HBA2
7protein heterooligomerizationGO:00512919.0HBB, HBA2

Molecular functions related to Heinz Body Anemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1haptoglobin bindingGO:00317209.4HBB, HBA2
2oxygen transporter activityGO:00053449.4HBB, HBA2
3peroxidase activityGO:00046019.3HBB, HBA2
4iron ion bindingGO:00055069.3HBB, HBA2
5oxygen bindingGO:00198259.2HBA2, HBB
6heme bindingGO:00200379.0HBB, HBA2

Products for genes affiliated with Heinz Body Anemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Heinz Body Anemia

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet