MCID: HNZ001
MIFTS: 40

Heinz Body Anemia malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Heinz Body Anemia

About this section
Sources:
49OMIM, 11diseasecard, 51Orphanet, 24GTR, 45NIH Rare Diseases, 67UniProtKB/Swiss-Prot, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Heinz Body Anemia:

Name: Heinz Body Anemia 49 11 51 24
Heinz Body Anemias 45 67 65
Heinz Body Anemias, Alpha- 49
 
Acquired Heinz Body Anemia 65
Heinz Body Anemias, Beta- 49
Heiban 67

Characteristics:

Orphanet epidemiological data:

51
heinz body anemia:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)

HPO:

61
heinz body anemia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 140700
Orphanet51 178330
ICD10 via Orphanet28 D58.2
UMLS via Orphanet66 C0700299
MedGen34 C0700299
UMLS65 C0272007, C0700299

Summaries for Heinz Body Anemia

About this section
UniProtKB/Swiss-Prot:67 Heinz body anemias: Form of non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency.

MalaCards based summary: Heinz Body Anemia, also known as heinz body anemias, is related to breast cancer and arthritis, and has symptoms including heinz body anemia, abnormality of metabolism/homeostasis and nonspherocytic hemolytic anemia. An important gene associated with Heinz Body Anemia is HBB (Hemoglobin Subunit Beta), and among its related pathways are Binding and Uptake of Ligands by Scavenger Receptors and Vesicle-mediated transport. Affiliated tissues include bone, bone marrow and breast.

Description from OMIM:49 140700

Related Diseases for Heinz Body Anemia

About this section

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

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer10.3
2arthritis10.3
3congestive heart failure10.3
4leukemia10.3
5onchocerciasis10.3
6melanoma10.3
7post-thrombotic syndrome10.3
8cerebritis10.3
9reactive arthritis10.3
10myeloid leukemia10.3
11dwarfism10.3
12cerebral atrophy10.3
13thbd-related atypical hemolytic-uremic syndrome10.0HBA2, HBB
14snyder-robinson syndrome9.9HBA2, HBB
15heinz body anemia9.9HBA1, HBA2
16hydrocephalus with stenosis of the aqueduct of sylvius9.9HBA1, HBA2
17prader-willi syndrome due to maternal uniparental disomy of chromosome 159.9HBA1, HBA2
18vertebral artery occlusion9.9HBA1, HBA2
19ichthyosis-short stature-brachydactyly-microspherophakia syndrome9.9HBA1, HBA2
20immune hydrops fetalis9.9HBA1, HBA2
21hydrops fetalis anemia immune disorder absent thumb9.9HBA1, HBA2
22polydactyly9.9HBA1, HBA2
23sickle cell anemia9.9HBA2, HBB
24internuclear ophthalmoplegia9.8HBA1, HBB
25hemophagocytic lymphohistiocytosis9.8HBA2, HBB
26hemoglobinopathy9.8HBA1, HBB
27psychotic disorder9.8HBA1, HBA2
28pulmonary alveolar proteinosis9.8HBA1, HBB
29mental retardation, x-linked 39.8HBA1, HBB
30qazi markouizos syndrome9.7HBA1, HBB
31hyperglycemia9.7HBA1, HBA2
32organic acidemia9.6HBA1, HBA2
33intrapelvic lymph node leukemic reticuloendotheliosis9.6HBA2, HBB
34actinic prurigo9.5HBA1, HBA2, HBB
35gaba-transaminase deficiency9.5HBA1, HBA2, HBB
36congenital nonspherocytic hemolytic anemia9.5HBA1, HBA2, HBB
37hemoglobin h disease, nondeletional9.5HBA1, HBA2, HBB
38thalassemia-beta, dominant inclusion-body9.5HBA1, HBA2, HBB
39thromboangiitis obliterans9.5HBA1, HBA2, HBB
40tendinitis9.5HBA1, HBA2, HBB
41malaria9.4HBA1, HBA2, HBB

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



Diseases related to heinz body anemia

Symptoms for Heinz Body Anemia

About this section

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 heinz body anemia HP:0005511
2 abnormality of metabolism/homeostasis HP:0001939
3 nonspherocytic hemolytic anemia HP:0001930

Drugs & Therapeutics for Heinz Body Anemia

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Heinz Body Anemia

Genetic Tests for Heinz Body Anemia

About this section

Anatomical Context for Heinz Body Anemia

About this section

MalaCards organs/tissues related to Heinz Body Anemia:

33
Bone, Bone marrow, Breast, Pituitary

Animal Models for Heinz Body Anemia or affiliated genes

About this section

MGI Mouse Phenotypes related to Heinz Body Anemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Heinz Body Anemia

About this section

Articles related to Heinz Body Anemia:

(show all 16)
idTitleAuthorsYear
1
The potential value of volume-based quantitative PET parameters and increased bone marrow uptake for the prediction of survival in patients with malignant pleural mesothelioma. (26440572)
2016
2
Paralympics and conversion disorder. (25948495)
2015
3
Nontranscriptional role of Hif-1I+ in activation of I^-secretase and notch signaling in breast cancer. (25131208)
2014
4
Surgical management of left main coronary artery aneurysm. (22897376)
2012
5
Angiotensin II induces angiogenic factors production partly via AT1/JAK2/STAT3/SOCS3 signaling pathway in MHCC97H cells. (22613986)
2012
6
Quantifying in vivo hemodynamic response to exercise in patients with intermittent claudication and abdominal aortic aneurysms using cine phase-contrast MRI. (20099356)
2010
7
PAKing up to the endothelium. (19720142)
2009
8
Expression of proinflammatory cytokines by human mesenchymal stem cells in response to cyclic tensile strain. (19089992)
2009
9
Estrogen limits ischemic cell death by modulating caspase-12-mediated apoptotic pathways following middle cerebral artery occlusion. (17433554)
2007
10
Prenatal diagnosis of fetal chest lymphangioma. (17060430)
2006
11
Transplant-related bronchiolitis obliterans (BOS) demonstrates unique cytokine profiles compared to toxicant-induced BOS. (16226252)
2005
12
Prolactin producing pituitary tumor]. (11808216)
2001
13
Enhancing effect of IL-17 on IL-1-induced IL-6 and leukemia inhibitory factor production by rheumatoid arthritis synoviocytes and its regulation by Th2 cytokines. (9647250)
1998
14
The structural relationship between the two synapse enriched glycoproteins, GP65 and GP55. (1397546)
1992
15
A radiometric assay for aspartoacylase activity in human fibroblasts: application for the diagnosis of Canavan's disease. (1756590)
1991
16
Autoregulated instability of beta-tubulin mRNAs by recognition of the nascent amino terminus of beta-tubulin. (3405308)
1988

Variations for Heinz Body Anemia

About this section

Clinvar genetic disease variations for Heinz Body Anemia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1HBBNM_000518.4(HBB): c.127_129delTTT (p.Phe43del)deletionPathogenicrs41417446GRCh37Chr 11, 5247993: 5247995
2HBBNM_000518.4(HBB): c.128T> C (p.Phe43Ser)single nucleotide variantPathogenicrs34378160GRCh37Chr 11, 5247994: 5247994
3HBBNM_000518.4(HBB): c.337T> C (p.Cys113Arg)single nucleotide variantPathogenicrs35849199GRCh37Chr 11, 5246935: 5246935
4HBBNM_000518.4(HBB): c.295G> A (p.Val99Met)single nucleotide variantPathogenicrs33933298GRCh37Chr 11, 5247827: 5247827
5HBBNM_000518.4(HBB): c.86T> A (p.Leu29Gln)single nucleotide variantPathogenicrs33916412GRCh37Chr 11, 5248166: 5248166
6HBBNM_000518.4(HBB): c.93G> T (p.Arg31Ser)single nucleotide variantPathogenicrs1135071GRCh37Chr 11, 5248029: 5248029
7HBBNM_000518.4(HBB): c.295G> A (p.Val99Met)single nucleotide variantPathogenicrs33933298GRCh37Chr 11, 5247827: 5247827
8NM_000517.4(HBA2): c.410T> C (p.Leu137Pro)single nucleotide variantPathogenicrs41469945GRCh37Chr 16, 223580: 223580
9HBA1NM_000558.4(HBA1): c.410T> G (p.Leu137Arg)single nucleotide variantPathogenicrs34635364GRCh38Chr 16, 177392: 177392

Expression for genes affiliated with Heinz Body Anemia

About this section
Search GEO for disease gene expression data for Heinz Body Anemia.

Pathways for genes affiliated with Heinz Body Anemia

About this section

GO Terms for genes affiliated with Heinz Body Anemia

About this section

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

idNameGO IDScoreTop Affiliating Genes
1cytosolic small ribosomal subunitGO:00226279.8HBA1, HBA2
2haptoglobin-hemoglobin complexGO:00318389.2HBA1, HBA2, HBB
3cytosolGO:00058298.5HBA1, HBA2, HBB

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

idNameGO IDScoreTop Affiliating Genes
1receptor-mediated endocytosisGO:00068988.5HBA1, HBA2, HBB
2protein heterooligomerizationGO:00512918.4HBA1, HBA2, HBB

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

idNameGO IDScoreTop Affiliating Genes
1oxygen transporter activityGO:00053449.7HBA1, HBA2
2haptoglobin bindingGO:00317209.2HBA1, HBA2, HBB
3peroxidase activityGO:00046019.1HBA1, HBA2, HBB
4protein bindingGO:00055158.5HBA1, HBA2, HBB

Sources for Heinz Body Anemia

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet