HMOX1D
MCID: HMX003
MIFTS: 27

Heme Oxygenase 1 Deficiency (HMOX1D)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Heme Oxygenase 1 Deficiency

MalaCards integrated aliases for Heme Oxygenase 1 Deficiency:

Name: Heme Oxygenase 1 Deficiency 56 73 29 6 39 71
Heme Oxygenase-1 Deficiency 56 58 13
Hmox1d 56 73
Ho-1 Deficiency 58

Characteristics:

HPO:

31
heme oxygenase 1 deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

OMIM 56 614034
MeSH 43 D000743
Orphanet 58 ORPHA562509
MedGen 41 C1841651
UMLS 71 C1841651

Summaries for Heme Oxygenase 1 Deficiency

UniProtKB/Swiss-Prot : 73 Heme oxygenase 1 deficiency: A disease characterized by impaired stress hematopoiesis, resulting in marked erythrocyte fragmentation and intravascular hemolysis, coagulation abnormalities, endothelial damage, and iron deposition in renal and hepatic tissues. Clinical features include persistent hemolytic anemia, asplenia, nephritis, generalized erythematous rash, growth retardation and hepatomegaly.

MalaCards based summary : Heme Oxygenase 1 Deficiency, also known as heme oxygenase-1 deficiency, is related to hemolytic anemia and vascular disease. An important gene associated with Heme Oxygenase 1 Deficiency is HMOX1 (Heme Oxygenase 1). Affiliated tissues include endothelial and t cells, and related phenotypes are hepatomegaly and proteinuria

More information from OMIM: 614034

Related Diseases for Heme Oxygenase 1 Deficiency

Graphical network of the top 20 diseases related to Heme Oxygenase 1 Deficiency:



Diseases related to Heme Oxygenase 1 Deficiency

Symptoms & Phenotypes for Heme Oxygenase 1 Deficiency

Human phenotypes related to Heme Oxygenase 1 Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 31 HP:0002240
2 proteinuria 31 HP:0000093
3 hematuria 31 HP:0000790
4 growth delay 31 HP:0001510
5 hemolytic anemia 31 HP:0001878

Clinical features from OMIM:

614034

Drugs & Therapeutics for Heme Oxygenase 1 Deficiency

Search Clinical Trials , NIH Clinical Center for Heme Oxygenase 1 Deficiency

Genetic Tests for Heme Oxygenase 1 Deficiency

Genetic tests related to Heme Oxygenase 1 Deficiency:

# Genetic test Affiliating Genes
1 Heme Oxygenase 1 Deficiency 29 HMOX1

Anatomical Context for Heme Oxygenase 1 Deficiency

MalaCards organs/tissues related to Heme Oxygenase 1 Deficiency:

40
Endothelial, T Cells

Publications for Heme Oxygenase 1 Deficiency

Articles related to Heme Oxygenase 1 Deficiency:

(show all 29)
# Title Authors PMID Year
1
Oxidative stress causes enhanced endothelial cell injury in human heme oxygenase-1 deficiency. 6 56 61
9884342 1999
2
Reduced stress defense in heme oxygenase 1-deficient cells. 56
9380736 1997
3
Using ultrasound to define the time point of intrauterine growth retardation in a mouse model of heme oxygenase-1 deficiency†. 61
32342097 2020
4
Heme oxygenase-1 deficiency triggers exhaustion of hematopoietic stem cells. 61
31885181 2020
5
Hepatocellular heme oxygenase 1 deficiency does not affect inflammatory hepcidin regulation in mice. 61
31295319 2019
6
Heme oxygenase-1 deficiency promotes severity of sepsis in a non-surgical preterm mouse model. 61
29795214 2018
7
Heme oxygenase-1 deficiency results in splenic T-cell dysregulation in offspring of mothers exposed to late gestational inflammation. 61
29484761 2018
8
Heme Oxygenase-1 Deficiency Diminishes Methicillin-Resistant Staphylococcus aureus Clearance Due to Reduced TLR9 Expression in Pleural Mesothelial Cells. 61
28052108 2017
9
Heme oxygenase-1 deficiency exacerbates angiotensin II-induced aortic aneurysm in mice. 61
27626316 2016
10
Effect of Heme Oxygenase-1 Deficiency on Glomerular Proteomics. 61
27251563 2016
11
Induction of Heme Oxygenase-1 Deficiency and Associated Glutamate-Mediated Neurotoxicity Is a Highly Conserved HIV Phenotype of Chronic Macrophage Infection That Is Resistant to Antiretroviral Therapy. 61
26269184 2015
12
Heme oxygenase-1 deficiency alters erythroblastic island formation, steady-state erythropoiesis and red blood cell lifespan in mice. 61
25682599 2015
13
Heme oxygenase-1 deficiency accompanies neuropathogenesis of HIV-associated neurocognitive disorders. 61
25202977 2014
14
Heme oxygenase-1 deficiency promotes the development of necrotizing enterocolitis-like intestinal injury in a newborn mouse model. 61
23578787 2013
15
Human heme oxygenase-1 deficiency presenting with hemolysis, nephritis, and asplenia. 61
21088618 2011
16
Heme oxygenase-1 deficiency leads to alteration of soluble guanylate cyclase redox regulation. 61
20605906 2010
17
Effect of heme oxygenase-1 deficiency on placental development. 61
19699520 2009
18
Hepcidin suppression and defective iron recycling account for dysregulation of iron homeostasis in heme oxygenase-1 deficiency. 61
18774956 2009
19
Heme oxygenase-1 deficiency leads to disrupted response to acute stress in stem cells and progenitors. 61
18509090 2008
20
Heme oxygenase-1 deficiency promotes epithelial-mesenchymal transition and renal fibrosis. 61
18495963 2008
21
Genetic deficiency of heme oxygenase-1 impairs functionality and form of an arteriovenous fistula in the mouse. 61
18368029 2008
22
Heme oxygenase-1 deficiency accelerates formation of arterial thrombosis through oxidative damage to the endothelium, which is rescued by inhaled carbon monoxide. 61
17885218 2007
23
Human heme oxygenase-1 deficiency: a lesson on serendipity in the discovery of the novel disease. 61
17445026 2007
24
Heme, heme oxygenase and ferritin in vascular endothelial cell injury. 61
16208635 2005
25
Rare causes of hereditary iron overload. 61
12382200 2002
26
Heme oxygenase-1 deficiency: the first autopsy case. 61
11823983 2002
27
[Heme oxygenase 1 deficiency]. 61
11462691 2001
28
Structural evidence of genomic exon-deletion mediated by Alu-Alu recombination in a human case with heme oxygenase-1 deficiency. 61
10923045 2000
29
Tubular injury as a cardinal pathologic feature in human heme oxygenase-1 deficiency. 61
10793020 2000

Variations for Heme Oxygenase 1 Deficiency

ClinVar genetic disease variations for Heme Oxygenase 1 Deficiency:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HMOX1 HMOX1, EX2DELdeletion Pathogenic 15895
2 HMOX1 HMOX1, 2-BP DELdeletion Pathogenic 15896

Expression for Heme Oxygenase 1 Deficiency

Search GEO for disease gene expression data for Heme Oxygenase 1 Deficiency.

Pathways for Heme Oxygenase 1 Deficiency

GO Terms for Heme Oxygenase 1 Deficiency

Biological processes related to Heme Oxygenase 1 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to hydrogen peroxide GO:0042542 8.62 HP HMOX1

Sources for Heme Oxygenase 1 Deficiency

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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