ACATLAS
MCID: ACT209
MIFTS: 32

Acatalasemia (ACATLAS) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Acatalasemia

Aliases & Descriptions for Acatalasemia:

Name: Acatalasemia 54 50 24 25 56 66 13 52
Acatalasia 12 50 25 66 29 42 14 69
Catalase Deficiency 50 25 56 66 69
Deficiency of Catalase 12
Takahara's Disease 66
Takahara Disease 66
Catalase 13
Acatlas 66

Characteristics:

Orphanet epidemiological data:

56
acatalasemia
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages;

HPO:

32
acatalasemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

OMIM 54 614097
Disease Ontology 12 DOID:2582
MeSH 42 D020642
NCIt 47 C84526
Orphanet 56 ORPHA926
UMLS via Orphanet 70 C0268419
ICD10 via Orphanet 34 E80.3
MedGen 40 C0268419
UMLS 69 C0268419

Summaries for Acatalasemia

OMIM : 54 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 aniridia and peroxisome biogenesis disorder 1a, and has symptoms including oral ulcer and reduced catalase activity. An important gene associated with Acatalasemia is CAT (Catalase). Related phenotype is 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 : 66 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

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

(show all 17)
id Related Disease Score Top Affiliating Genes
1 aniridia 28.6 CAT HBG2 MT-CYB
2 peroxisome biogenesis disorder 1a 10.8
3 neuronal ceroid-lipofuscinoses 9.8 CAT HBG2
4 zellweger syndrome 9.8
5 hepatitis 9.8
6 hemosiderosis 9.8
7 periodontitis 9.8
8 renal fibrosis 9.8
9 methemoglobinemia 9.8
10 microcytic anemia 9.8
11 ureteral obstruction 9.8
12 neonatal adrenoleukodystrophy 9.6
13 refsum disease 9.6
14 adrenoleukodystrophy 9.6
15 cardiomyopathy 9.5
16 chronic granulomatous disease 9.5
17 chronic lymphocytic leukemia 9.5 CAT HBG2 MT-CYB

Graphical network of the top 20 diseases related to Acatalasemia:



Diseases related to Acatalasemia

Symptoms & Phenotypes for Acatalasemia

Clinical features from OMIM:

614097

Human phenotypes related to Acatalasemia:

32
id Description HPO Frequency HPO Source Accession
1 oral ulcer 32 HP:0000155
2 reduced catalase activity 32 HP:0012517

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.62 CAT HBG2

Drugs & Therapeutics for Acatalasemia

Search Clinical Trials , NIH Clinical Center for Acatalasemia

Cochrane evidence based reviews: acatalasia

Genetic Tests for Acatalasemia

Genetic tests related to Acatalasemia:

id Genetic test Affiliating Genes
1 Acatalasemia 29 24 CAT

Anatomical Context for Acatalasemia

Publications for Acatalasemia

Articles related to Acatalasemia:

(show all 24)
id Title Authors Year
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 new type of inherited catalase deficiencies: its characterization and comparison to the Japanese and Swiss type of acatalasemia. ( 11500062 )
2001
9
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
10
A novel catalase mutation (a G insertion in exon 2) causes the type B of the Hungarian acatalasemia. ( 11603354 )
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
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
Two cases of acatalasemia in Hungary. ( 1591863 )
1992
20
Immunotitration of the catalase in the blood of Japanese subjects and mice suffering from acatalasemia and hypocatalasemia. ( 1296208 )
1992
21
Acatalasemia. ( 1999334 )
1991
22
Methemoglobin formation in the blood of Japanese subjects and mice suffering from acatalasemia in response to methemoglobin inducers. ( 2093192 )
1990
23
Molecular analysis of human acatalasemia. Identification of a splicing mutation. ( 2308162 )
1990
24
The frequency in Japan of carriers of the rare "recessive" gene causing acatalasemia. ( 13904105 )
1961

Variations for Acatalasemia

ClinVar genetic disease variations for Acatalasemia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CAT CAT, 2-BP INS, 138GA insertion Pathogenic

Expression for Acatalasemia

Search GEO for disease gene expression data for Acatalasemia.

Pathways for Acatalasemia

GO Terms for Acatalasemia

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

id Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.32 CAT MT-CYB
2 response to ethanol GO:0045471 9.26 CAT MT-CYB
3 response to toxic substance GO:0009636 9.16 CAT MT-CYB
4 response to cadmium ion GO:0046686 8.96 CAT MT-CYB
5 response to hyperoxia GO:0055093 8.62 CAT MT-CYB

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

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 8.96 CAT MT-CYB
2 heme binding GO:0020037 8.62 CAT HBG2

Sources for Acatalasemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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