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 57 72 29 6 39 70
Heme Oxygenase-1 Deficiency 57 58 13
Hmox1d 57 72
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® 57 614034
MeSH 44 D000743
Orphanet 58 ORPHA562509
MedGen 41 C1841651
UMLS 70 C1841651

Summaries for Heme Oxygenase 1 Deficiency

UniProtKB/Swiss-Prot : 72 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 bilirubin metabolic disorder. An important gene associated with Heme Oxygenase 1 Deficiency is HMOX1 (Heme Oxygenase 1). Affiliated tissues include endothelial, kidney and lung, and related phenotypes are hepatomegaly and proteinuria

More information from OMIM: 614034

Related Diseases for Heme Oxygenase 1 Deficiency

Diseases related to Heme Oxygenase 1 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 hemolytic anemia 30.1 HP HMOX1
2 bilirubin metabolic disorder 29.8 HP HMOX1
3 thrombocytosis 10.3
4 disseminated intravascular coagulation 10.2
5 aortic aneurysm, familial abdominal, 1 10.1
6 enterocolitis 10.1
7 proteasome-associated autoinflammatory syndrome 1 10.1
8 aortic aneurysm, familial thoracic 1 10.1
9 autosomal recessive disease 10.1
10 renal fibrosis 10.1
11 bacterial infectious disease 10.1
12 pre-eclampsia 10.1
13 hydronephrosis 10.1
14 respiratory failure 10.1
15 microcytic anemia 10.1
16 hemopericardium 10.1
17 pericardial effusion 10.1
18 hemosiderosis 10.1
19 eclampsia 10.1
20 nonspecific interstitial pneumonia 10.1
21 interstitial lung disease 10.1
22 aortic aneurysm 10.1
23 pleural empyema 10.1
24 ureteral obstruction 10.1
25 lung disease 10.1
26 vasculitis 10.1
27 perinatal necrotizing enterocolitis 10.1
28 amyloidosis 10.1
29 macrophage activation syndrome 10.1
30 aneurysm 10.1
31 pulmonary edema 9.8 HP HMOX1
32 intracranial berry aneurysm 9.8 HP HMOX1
33 sickle cell disease 9.8 HP HMOX1
34 gilbert syndrome 9.8 HP HMOX1
35 hemochromatosis, type 1 9.8 HP HMOX1
36 cardiovascular system disease 9.8 HP HMOX1
37 vascular disease 9.7 HP HMOX1
38 chronic kidney disease 9.7 HP HMOX1
39 kidney disease 9.7 HP HMOX1
40 deficiency anemia 9.7 HP HMOX1
41 cystic fibrosis 9.6 HP HMOX1
42 myocardial infarction 9.6 HP HMOX1
43 inflammatory bowel disease 9.5 HP HMOX1

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 very rare (1%) HP:0002240
2 proteinuria 31 very rare (1%) HP:0000093
3 growth delay 31 very rare (1%) HP:0001510
4 hemolytic anemia 31 very rare (1%) HP:0001878
5 hematuria 31 very rare (1%) HP:0000790

Clinical features from OMIM®:

614034 (Updated 20-May-2021)

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, Kidney, Lung

Publications for Heme Oxygenase 1 Deficiency

Articles related to Heme Oxygenase 1 Deficiency:

(show all 34)
# Title Authors PMID Year
1
Oxidative stress causes enhanced endothelial cell injury in human heme oxygenase-1 deficiency. 6 57 61
9884342 1999
2
Reduced stress defense in heme oxygenase 1-deficient cells. 57
9380736 1997
3
Heme Oxygenase-1 Deficiency. 61
33713076 2021
4
Heme Oxygenase-1 Deficiency. 61
33632968 2021
5
Heme Oxygenase-1 Deficiency and Oxidative Stress: A Review of 9 Independent Human Cases and Animal Models. 61
33546372 2021
6
Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares. 61
33066778 2020
7
Using ultrasound to define the time point of intrauterine growth retardation in a mouse model of heme oxygenase-1 deficiency†. 61
32342097 2020
8
Heme oxygenase-1 deficiency triggers exhaustion of hematopoietic stem cells. 61
31885181 2020
9
Hepatocellular heme oxygenase 1 deficiency does not affect inflammatory hepcidin regulation in mice. 61
31295319 2019
10
Post-mortem Diagnosis of Heme Oxygenase-1 Deficiency by Whole Exome Sequencing in an Iranian Child. 61
32587840 2019
11
Heme oxygenase-1 deficiency promotes severity of sepsis in a non-surgical preterm mouse model. 61
29795214 2018
12
Heme oxygenase-1 deficiency results in splenic T-cell dysregulation in offspring of mothers exposed to late gestational inflammation. 61
29484761 2018
13
Heme Oxygenase-1 Deficiency Diminishes Methicillin-Resistant Staphylococcus aureus Clearance Due to Reduced TLR9 Expression in Pleural Mesothelial Cells. 61
28052108 2017
14
Heme oxygenase-1 deficiency exacerbates angiotensin II-induced aortic aneurysm in mice. 61
27626316 2016
15
Effect of Heme Oxygenase-1 Deficiency on Glomerular Proteomics. 61
27251563 2016
16
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
17
Heme oxygenase-1 deficiency alters erythroblastic island formation, steady-state erythropoiesis and red blood cell lifespan in mice. 61
25682599 2015
18
Heme oxygenase-1 deficiency accompanies neuropathogenesis of HIV-associated neurocognitive disorders. 61
25202977 2014
19
Heme oxygenase-1 deficiency promotes the development of necrotizing enterocolitis-like intestinal injury in a newborn mouse model. 61
23578787 2013
20
Human heme oxygenase-1 deficiency presenting with hemolysis, nephritis, and asplenia. 61
21088618 2011
21
Heme oxygenase-1 deficiency leads to alteration of soluble guanylate cyclase redox regulation. 61
20605906 2010
22
Effect of heme oxygenase-1 deficiency on placental development. 61
19699520 2009
23
Hepcidin suppression and defective iron recycling account for dysregulation of iron homeostasis in heme oxygenase-1 deficiency. 61
18774956 2009
24
Heme oxygenase-1 deficiency leads to disrupted response to acute stress in stem cells and progenitors. 61
18509090 2008
25
Heme oxygenase-1 deficiency promotes epithelial-mesenchymal transition and renal fibrosis. 61
18495963 2008
26
Genetic deficiency of heme oxygenase-1 impairs functionality and form of an arteriovenous fistula in the mouse. 61
18368029 2008
27
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
28
Human heme oxygenase-1 deficiency: a lesson on serendipity in the discovery of the novel disease. 61
17445026 2007
29
Heme, heme oxygenase and ferritin in vascular endothelial cell injury. 61
16208635 2005
30
Rare causes of hereditary iron overload. 61
12382200 2002
31
Heme oxygenase-1 deficiency: the first autopsy case. 61
11823983 2002
32
[Heme oxygenase 1 deficiency]. 61
11462691 2001
33
Structural evidence of genomic exon-deletion mediated by Alu-Alu recombination in a human case with heme oxygenase-1 deficiency. 61
10923045 2000
34
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 Position
1 HMOX1 HMOX1, EX2DEL Deletion Pathogenic 15895 GRCh37:
GRCh38:
2 HMOX1 HMOX1, 2-BP DEL Deletion Pathogenic 15896 GRCh37:
GRCh38:

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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