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 52 48 24 25 54 70 12 50
Acatalasia 11 48 25 70 27 39 13 68
Catalase Deficiency 48 25 54 70 68
Deficiency of Catalase 11
 
Takahara's Disease 70
Takahara Disease 70
Catalase 12
Acatlas 70

Characteristics:

Orphanet epidemiological data:

54
acatalasemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages

HPO:

64
acatalasemia:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 614097
Disease Ontology11 DOID:2582
MeSH39 D020642
NCIt45 C84526
Orphanet54 ORPHA926
UMLS via Orphanet69 C0268419
ICD10 via Orphanet31 E80.3
MedGen37 C0268419

Summaries for Acatalasemia

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OMIM:52 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). Related mouse phenotype Increased shRNA abundance.

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.

UniProtKB/Swiss-Prot:70 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:71 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 & Phenotypes for Acatalasemia

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Clinical features from OMIM:

614097

Human phenotypes related to Acatalasemia:

 64
id Description HPO Frequency HPO Source Accession
1 oral ulcer64 HP:0000155
2 reduced catalase activity64 HP:0012517

GenomeRNAi Phenotypes related to Acatalasemia according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00327-A9.0CAT, HBG2

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 Acatalasemia27 24 CAT

Anatomical Context for Acatalasemia

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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:004668610.0CAT, MT-CYB
2response to drugGO:00424939.9CAT, MT-CYB
3response to ethanolGO:00454719.9CAT, MT-CYB
4response to hyperoxiaGO:00550939.9CAT, MT-CYB
5response to toxic substanceGO:00096369.3CAT, 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet