MCID: ACT209
MIFTS: 33

Acatalasemia malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Aliases & Classifications for Acatalasemia

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Sources:
46OMIM, 8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 56SNOMED-CT, 33MeSH, 39NCIt, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Acatalasemia:

Name: Acatalasemia 46 9 42 21 44 48
Acatalasia 8 42 21 10 22 61
Catalase Deficiency 42 21 48 61
 
Deficiency of Catalase 8
Catalase 9


Classifications:



Characteristics (Orphanet epidemiological data):

48
acatalasemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages


External Ids:

OMIM46 614097
Disease Ontology8 DOID:2582
MeSH33 D020642
NCIt39 C84526
Orphanet48 926
ICD10 via Orphanet26 E80.3
UMLS via Orphanet62 C0268419

Summaries for Acatalasemia

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OMIM:46 Acatalasemia, also known as acatalasia, is a metabolic disorder characterized by a total or near total loss of catalase... (614097) more...

MalaCards based summary: Acatalasemia, also known as acatalasia, is related to chronic granulomatous disease and asthma, and has symptoms including autosomal recessive inheritance, oral ulcer and reduced catalase activity. An important gene associated with Acatalasemia is CAT (catalase). The compounds nacn and dmpo have been mentioned in the context of this disorder.

Genetics Home Reference:21 Acatalasemia is a condition characterized by very low levels of an enzyme called catalase. Many people with acatalasemia never have any health problems related to the condition and are diagnosed because they have affected family members.

Wikipedia:64 Acatalasia (also called acatalasemia, or Takahara\'s disease) is an autosomal recessive peroxisomal... more...

Related Diseases for Acatalasemia

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Diseases related to Acatalasemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1chronic granulomatous disease29.9CAT, HBG2
2asthma10.2HBG2
3adrenoleukodystrophy10.1
4refsum disease10.1
5neonatal adrenoleukodystrophy10.1
6peroxisome biogenesis disorder 1a10.1
7hepatitis10.1
8ureteral obstruction10.1
9zellweger syndrome10.1
10renal fibrosis10.1
11methemoglobinemia10.1
12hemosiderosis10.1
13microcytic anemia10.1
14aniridia10.0
15acute kidney failure9.9HBG2, CAT
16cork-handlers' disease9.9CAT, HBG2
17vascular disease9.8HBG2, CAT
18preeclampsia/eclampsia 19.7HBG2, CAT

Graphical network of diseases related to Acatalasemia:



Diseases related to acatalasemia

Symptoms for Acatalasemia

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Clinical features from OMIM:

614097

HPO human phenotypes related to Acatalasemia:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 oral ulcer HP:0000155
3 reduced catalase activity HP:0012517

Drugs & Therapeutics for Acatalasemia

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Drug clinical trials:

Search ClinicalTrials for Acatalasemia

Search NIH Clinical Center for Acatalasemia

Genetic Tests for Acatalasemia

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Genetic tests related to Acatalasemia:

id Genetic test Affiliating Genes
1 Acatalasemia22

Anatomical Context for Acatalasemia

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Animal Models for Acatalasemia or affiliated genes

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Publications for Acatalasemia

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Articles related to Acatalasemia:

(show all 14)
idTitleAuthorsYear
1
Further acatalasemia mutations in human patients from Hungary with diabetes and microcytic anemia. (25772105)
2015
2
Catalase -262C>T polymorphisms in Hungarian vitiligo patients and in controls: further acatalasemia mutations in Hungary. (21947853)
2012
3
Mammalian acatalasemia: the perspectives of bioinformatics and genetic toxicology. (19122680)
2008
4
Methemoglobinemia from hydrogen peroxide in a patient with acatalasemia. (15220799)
2004
5
Acatalasemia sensitizes renal tubular epithelial cells to apoptosis and exacerbates renal fibrosis after unilateral ureteral obstruction. (14722014)
2004
6
A novel catalase mutation (a G insertion in exon 2) causes the type B of the Hungarian acatalasemia. (11603354)
2001
7
A new type of inherited catalase deficiencies: its characterization and comparison to the Japanese and Swiss type of acatalasemia. (11500062)
2001
8
A novel catalase mutation detected by polymerase chain reaction-single strand conformation polymorphism, nucleotide sequencing, and western blot analyses is responsible for the type C of Hungarian acatalasemia. (11197178)
2001
9
Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia. (11001624)
2000
10
A novel human catalase mutation (358 T-->del) causing Japanese-type acatalasemia. (8673475)
1995
11
Acatalasemia. (1999334)
1991
12
Molecular analysis of human acatalasemia. Identification of a splicing mutation. (2308162)
1990
13
Methemoglobin formation in the blood of Japanese subjects and mice suffering from acatalasemia in response to methemoglobin inducers. (2093192)
1990
14
The frequency in Japan of carriers of the rare "recessive" gene causing acatalasemia. (13904105)
1961

Variations for Acatalasemia

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Clinvar genetic disease variations for Acatalasemia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CATCAT, 2-BP INS, 138GAinsertionPathogenic

Expression for genes affiliated with Acatalasemia

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Search GEO for disease gene expression data for Acatalasemia.

Pathways for genes affiliated with Acatalasemia

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Compounds for genes affiliated with Acatalasemia

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR
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Compounds related to Acatalasemia according to GeneCards Suite gene sharing:

(show all 34)
idCompoundScoreTop Affiliating Genes
1nacn449.5HBG2, CAT
2dmpo449.5HBG2, CAT
3semiquinone449.5CAT, HBG2
43-amino-1,2,4-triazole449.5CAT, HBG2
5fenton449.5CAT, HBG2
6benzyl alcohol44 1110.5CAT, HBG2
7trolox449.5HBG2, CAT
8tert-butylhydroperoxide449.5CAT, HBG2
9tocopherol449.5CAT, HBG2
10gssg449.5HBG2, CAT
11fe2+449.5HBG2, CAT
12deferoxamine44 1110.5HBG2, CAT
13l-nmma449.5HBG2, CAT
14menadione44 24 1111.5HBG2, CAT
15malondialdehyde449.5CAT, HBG2
16peroxynitrite449.5CAT, HBG2
17uric acid44 2410.5CAT, HBG2
18vitamin-e449.4HBG2, CAT
19glucose 6-phosphate44 2410.4CAT, HBG2
20n-ethylmaleimide44 1110.4CAT, HBG2
21alpha tocopherol449.4HBG2, CAT
22sodium nitroprusside449.4HBG2, CAT
23heme28 24 1111.4HBG2, CAT
24n acetylcysteine449.4CAT, HBG2
25ascorbic acid44 2410.4CAT, HBG2
26nadh44 24 1111.3CAT, HBG2
27nadph44 2410.3HBG2, CAT
28iron44 2410.3CAT, HBG2
29lactate449.2CAT, HBG2
30superoxide44 2410.2HBG2, CAT
31h2o2449.1HBG2, CAT
32cysteine449.1CAT, HBG2
33nitric oxide44 24 1111.0CAT, HBG2
34oxygen44 249.8HBG2, CAT

GO Terms for genes affiliated with Acatalasemia

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Molecular functions related to Acatalasemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1heme bindingGO:00200379.1CAT, HBG2

Sources for Acatalasemia

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet