MCID: ACT209
MIFTS: 35

Acatalasemia malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Aliases & Classifications for Acatalasemia

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 67UniProtKB/Swiss-Prot, 10Disease Ontology, 22GeneTests, 12DISEASES, 24GTR, 65UMLS, 36MeSH, 59SNOMED-CT, 42NCIt, 66UMLS via Orphanet, 28ICD10 via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Acatalasemia:

Name: Acatalasemia 49 11 45 23 47 51 67
Acatalasia 10 45 22 23 12 24 65 36 67
Catalase Deficiency 45 23 51 65 67
Deficiency of Catalase 10
 
Takahara's Disease 67
Takahara Disease 67
Catalase 11
Acatlas 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
acatalasemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages


External Ids:

OMIM49 614097
Disease Ontology10 DOID:2582
NCIt42 C84526
MeSH36 D020642
Orphanet51 926
UMLS via Orphanet66 C0268419
ICD10 via Orphanet28 E80.3
MedGen34 C0268419

Summaries for Acatalasemia

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OMIM:49 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 refsum disease and adrenoleukodystrophy, and has symptoms including autosomal recessive inheritance, oral ulcer and reduced catalase activity. An important gene associated with Acatalasemia is CAT (Catalase).

Genetics Home Reference:23 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.

UniProtKB/Swiss-Prot:67 Acatalasemia: A metabolic disorder characterized by a total or near total loss of catalase activity in red cells. It is often associated with ulcerating oral lesions.

Wikipedia:68 Acatalasia (also called acatalasemia, or Takahara\'s disease) is an autosomal recessive peroxisomal... more...

Related Diseases for Acatalasemia

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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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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Acatalasemia


Cochrane evidence based reviews: Acatalasia

Genetic Tests for Acatalasemia

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Genetic tests related to Acatalasemia:

id Genetic test Affiliating Genes
1 Acatalasemia22 24 CAT

Anatomical Context for Acatalasemia

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Animal Models for Acatalasemia or affiliated genes

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MGI Mouse Phenotypes related to Acatalasemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Acatalasemia

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Articles related to Acatalasemia:

(show all 24)
idTitleAuthorsYear
1
Further acatalasemia mutations in human patients from Hungary with diabetes and microcytic anemia. (25772105)
2015
2
Long-term follow-up evaluation of an acatalasemia boy with severe periodontitis. (24522161)
2014
3
Acatalasemia and diabetes mellitus. (22365890)
2012
4
Catalase -262C>T polymorphisms in Hungarian vitiligo patients and in controls: further acatalasemia mutations in Hungary. (21947853)
2012
5
Mammalian acatalasemia: the perspectives of bioinformatics and genetic toxicology. (19122680)
2008
6
Methemoglobinemia from hydrogen peroxide in a patient with acatalasemia. (15220799)
2004
7
Acatalasemia sensitizes renal tubular epithelial cells to apoptosis and exacerbates renal fibrosis after unilateral ureteral obstruction. (14722014)
2004
8
A novel catalase mutation (a G insertion in exon 2) causes the type B of the Hungarian acatalasemia. (11603354)
2001
9
A new type of inherited catalase deficiencies: its characterization and comparison to the Japanese and Swiss type of acatalasemia. (11500062)
2001
10
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
11
Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia. (11001624)
2000
12
Lipid and carbohydrate metabolism in acatalasemia. (10759482)
2000
13
Polymorphism of 5' of the catalase gene in Hungarian acatalasemia and hypocatalasemia. (9237564)
1997
14
Further genetic heterogeneity in acatalasemia. (9420149)
1997
15
Genetic heterogeneity in acatalasemia. (8874054)
1996
16
A novel human catalase mutation (358 T-->del) causing Japanese-type acatalasemia. (8673475)
1995
17
Hungarian hereditary acatalasemia and hypocatalasemia are not associated with chronic hemolysis. (7758204)
1995
18
Further characterization of Hungarian acatalasemia by Hinf1 polymorphism of catalase gene. (7916241)
1993
19
Immunotitration of the catalase in the blood of Japanese subjects and mice suffering from acatalasemia and hypocatalasemia. (1296208)
1992
20
Two cases of acatalasemia in Hungary. (1591863)
1992
21
Acatalasemia. (1999334)
1991
22
Molecular analysis of human acatalasemia. Identification of a splicing mutation. (2308162)
1990
23
Methemoglobin formation in the blood of Japanese subjects and mice suffering from acatalasemia in response to methemoglobin inducers. (2093192)
1990
24
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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GO Terms for genes affiliated with Acatalasemia

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Biological processes related to Acatalasemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1response to hyperoxiaGO:00550939.7CAT, MT-CYB
2response to cadmium ionGO:00466869.5CAT, MT-CYB
3response to ethanolGO:00454719.3CAT, MT-CYB
4response to drugGO:00424939.3CAT, MT-CYB
5response to hypoxiaGO:00016669.2CAT, MT-CYB
6response to toxic substanceGO:00096369.0CAT, MT-CYB

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

idNameGO IDScoreTop Affiliating Genes
1heme bindingGO:00200379.0CAT, HBG2

Sources for Acatalasemia

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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