HMOX1D
MCID: HMX003
MIFTS: 24

Heme Oxygenase 1 Deficiency (HMOX1D)

Categories: Genetic diseases

Aliases & Classifications for Heme Oxygenase 1 Deficiency

MalaCards integrated aliases for Heme Oxygenase 1 Deficiency:

Name: Heme Oxygenase 1 Deficiency 58 76 30 6 41 74
Heme Oxygenase-1 Deficiency 58 13
Hmox1d 58 76

Characteristics:

HPO:

33
heme oxygenase 1 deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Heme Oxygenase 1 Deficiency

UniProtKB/Swiss-Prot : 76 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 enterocolitis and renal fibrosis. 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

Description 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:

# Related Disease Score Top Affiliating Genes
1 enterocolitis 10.0
2 renal fibrosis 10.0
3 thrombosis 10.0
4 aortic aneurysm 10.0
5 perinatal necrotizing enterocolitis 10.0
6 bilirubin metabolic disorder 9.7 HMOX1 HP
7 vascular disease 9.6 HMOX1 HP
8 malaria 9.5 HMOX1 HP

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:

33
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 33 HP:0002240
2 proteinuria 33 HP:0000093
3 hemolytic anemia 33 HP:0001878
4 growth delay 33 HP:0001510
5 hematuria 33 HP:0000790

Clinical features from OMIM:

614034

MGI Mouse Phenotypes related to Heme Oxygenase 1 Deficiency:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 8.96 HMOX1 HP
2 renal/urinary system MP:0005367 8.62 HMOX1 HP

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 30 HMOX1

Anatomical Context for Heme Oxygenase 1 Deficiency

MalaCards organs/tissues related to Heme Oxygenase 1 Deficiency:

42
Endothelial, T Cells

Publications for Heme Oxygenase 1 Deficiency

Articles related to Heme Oxygenase 1 Deficiency:

(show all 21)
# Title Authors Year
1
Heme oxygenase-1 deficiency promotes severity of sepsis in a non-surgical preterm mouse model. ( 29795214 )
2018
2
Heme oxygenase-1 deficiency results in splenic T-cell dysregulation in offspring of mothers exposed to late gestational inflammation. ( 29484761 )
2018
3
Heme Oxygenase-1 Deficiency Diminishes Methicillin-Resistant Staphylococcus aureus Clearance Due to Reduced TLR9 Expression in Pleural Mesothelial Cells. ( 28052108 )
2017
4
Heme oxygenase-1 deficiency exacerbates angiotensin II-induced aortic aneurysm in mice. ( 27626316 )
2016
5
Effect of Heme Oxygenase-1 Deficiency on Glomerular Proteomics. ( 27251563 )
2016
6
Heme oxygenase-1 deficiency alters erythroblastic island formation, steady-state erythropoiesis and red blood cell lifespan in mice. ( 25682599 )
2015
7
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. ( 26269184 )
2015
8
Heme oxygenase-1 deficiency accompanies neuropathogenesis of HIV-associated neurocognitive disorders. ( 25202977 )
2014
9
Heme oxygenase-1 deficiency promotes the development of necrotizing enterocolitis-like intestinal injury in a newborn mouse model. ( 23578787 )
2013
10
Human heme oxygenase-1 deficiency presenting with hemolysis, nephritis, and asplenia. ( 21088618 )
2011
11
Heme oxygenase-1 deficiency leads to alteration of soluble guanylate cyclase redox regulation. ( 20605906 )
2010
12
Hepcidin suppression and defective iron recycling account for dysregulation of iron homeostasis in heme oxygenase-1 deficiency. ( 18774956 )
2009
13
Effect of heme oxygenase-1 deficiency on placental development. ( 19699520 )
2009
14
Heme oxygenase-1 deficiency promotes epithelial-mesenchymal transition and renal fibrosis. ( 18495963 )
2008
15
Heme oxygenase-1 deficiency leads to disrupted response to acute stress in stem cells and progenitors. ( 18509090 )
2008
16
Human heme oxygenase-1 deficiency: a lesson on serendipity in the discovery of the novel disease. ( 17445026 )
2007
17
Heme oxygenase-1 deficiency accelerates formation of arterial thrombosis through oxidative damage to the endothelium, which is rescued by inhaled carbon monoxide. ( 17885218 )
2007
18
Heme oxygenase-1 deficiency: the first autopsy case. ( 11823983 )
2002
19
Tubular injury as a cardinal pathologic feature in human heme oxygenase-1 deficiency. ( 10793020 )
2000
20
Structural evidence of genomic exon-deletion mediated by Alu-Alu recombination in a human case with heme oxygenase-1 deficiency. ( 10923045 )
2000
21
Oxidative stress causes enhanced endothelial cell injury in human heme oxygenase-1 deficiency. ( 9884342 )
1999

Variations for Heme Oxygenase 1 Deficiency

ClinVar genetic disease variations for Heme Oxygenase 1 Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HMOX1 HMOX1, EX2DEL deletion Pathogenic
2 HMOX1 HMOX1, 2-BP DEL deletion Pathogenic

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 HMOX1 HP

Sources for Heme Oxygenase 1 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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