MCID: ACT209
MIFTS: 32

Acatalasemia malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Acatalasemia

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Aliases & Descriptions for Acatalasemia:

Name: Acatalasemia 51 47 24 25 53 69 12 49
Acatalasia 11 47 25 69 26 38 13 67
Catalase Deficiency 47 25 53 69 67
Deficiency of Catalase 11
 
Takahara's Disease 69
Takahara Disease 69
Catalase 12
Acatlas 69

Characteristics:

Orphanet epidemiological data:

53
acatalasemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages

HPO:

63
acatalasemia:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 614097
Disease Ontology11 DOID:2582
MeSH38 D020642
NCIt44 C84526
Orphanet53 ORPHA926
UMLS via Orphanet68 C0268419
ICD10 via Orphanet30 E80.3
MedGen36 C0268419

Summaries for Acatalasemia

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OMIM:51 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 peroxisome biogenesis disorder 1a and hepatitis, and has symptoms including oral ulcer and reduced catalase activity. An important gene associated with Acatalasemia is CAT (Catalase).

UniProtKB/Swiss-Prot:69 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.

Genetics Home Reference:25 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:70 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

Human phenotypes related to Acatalasemia:

 63
id Description HPO Frequency HPO Source Accession
1 oral ulcer63 HP:0000155
2 reduced catalase activity63 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 Acatalasemia26 24 CAT

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 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
Acatalasemia sensitizes renal tubular epithelial cells to apoptosis and exacerbates renal fibrosis after unilateral ureteral obstruction. (14722014)
2004
7
Methemoglobinemia from hydrogen peroxide in a patient with acatalasemia. (15220799)
2004
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
A novel catalase mutation (a G insertion in exon 2) causes the type B of the Hungarian acatalasemia. (11603354)
2001
10
A new type of inherited catalase deficiencies: its characterization and comparison to the Japanese and Swiss type of acatalasemia. (11500062)
2001
11
Lipid and carbohydrate metabolism in acatalasemia. (10759482)
2000
12
Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia. (11001624)
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
Hungarian hereditary acatalasemia and hypocatalasemia are not associated with chronic hemolysis. (7758204)
1995
17
A novel human catalase mutation (358 T-->del) causing Japanese-type acatalasemia. (8673475)
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, 138GAinsertionPathogenicChr na, -1: -1

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 cadmium ionGO:00466869.7CAT, MT-CYB
2response to hyperoxiaGO:00550939.7CAT, MT-CYB
3response to toxic substanceGO:00096369.3CAT, MT-CYB
4response to ethanolGO:00454719.3CAT, MT-CYB
5response to drugGO:00424939.0CAT, 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet