MCID: ACT021
MIFTS: 26

Acatalasia malady

Rare diseases category
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Summaries for Acatalasia

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Sources:
65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Acatalasia (also called acatalasemia, or Takahara\'s disease) is an autosomal recessive peroxisomal... more...

MalaCards: Acatalasia, also known as acatalasemia, is related to adrenoleukodystrophy and refsum disease. An important gene associated with Acatalasia is CAT (catalase).

Description from OMIM:47 614097

Aliases & Classifications for Acatalasia

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Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 22GTR, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 58SNOMED-CT, 35MeSH, 40NCIt, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Characteristics (Orphanet epidemiological data):

49
acatalasemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Variable


Aliases & Descriptions:

acatalasia 8 43 10 62
acatalasemia 9 43 22 47 45 49
catalase deficiency 43 49
deficiency of catalase 8
catalase 9


External Ids:

Disease Ontology8 DOID:2582
MeSH35 D020642
OMIM47 614097
NCIt40 C84526
SNOMED-CT via Orphanet59 111393000, 267454002
ICD10 via Orphanet26 E80.3
UMLS via Orphanet63 C0268419

Related Diseases for Acatalasia

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17GeneCards, 18GeneDecks
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Diseases related to Acatalasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1adrenoleukodystrophy10.1
2refsum disease10.1
3infantile refsum disease10.1
4neonatal adrenoleukodystrophy10.1
5ureteral obstruction10.0
6zellweger syndrome10.0
7renal fibrosis10.0
8methemoglobinemia10.0
9hemosiderosis10.0
10vitiligo10.0
11hepatitis10.0
12peroxisome biogenesis disorder 1a10.0
13fanconi's anemia10.0
14chronic granulomatous disease10.0
15aniridia10.0
16xeroderma pigmentosum10.0
17diabetes mellitus10.0

Graphical network of diseases related to Acatalasia:



Diseases related to acatalasia

Symptoms for Acatalasia

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Sources:
47OMIM
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Clinical features from OMIM:

614097

Drugs & Therapeutics for Acatalasia

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Acatalasia

Search NIH Clinical Center for Acatalasia

Genetic Tests for Acatalasia

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22GTR
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Genetic tests related to Acatalasia:

id Genetic test Affiliating Genes
1 Acatalasemia22

Anatomical Context for Acatalasia

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Animal Models for Acatalasia or affiliated genes

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Publications for Acatalasia

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Sources:
52PubMed
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Articles related to Acatalasia:

(show all 11)
idTitleAuthorsYear
1
Acatalasia discovered by accident during a disk operation. (3382341)
1988
2
Molecular defect in human acatalasia fibroblasts. (3377795)
1988
3
Acatalasia in two Peruvian siblings. (120431)
1979
4
A metabolic disorder similar to Zellweger syndrome with hepatic acatalasia and absence of peroxisomes, altered content and redox state of cytochromes, and infantile cirrhosis with hemosiderosis. (844460)
1977
5
Studies of human erythrocyte catalase by fluorescent antibody technic. The distribution of catalase in acatalasia and hypocatalasia. (4977768)
1969
6
Heterogeneity of catalase in blood of heterozygous cases of acatalasia. (5964090)
1966
7
Cellular distribution of catalase activity in red cells of homozygous and heterozygous cases of acatalasia. (5869710)
1965
8
OXIDATIVE HEMOLYSIS AND ERYTHROCYTE METABOLISM IN HEREDITARY ACATALASIA. (14328395)
1965
9
OBSERVATIONS IN TWO SWISS FAMILIES WITH ACATALASIA. II. (14168578)
1964
10
Observations in two Swiss families with acatalasia. (14011143)
1962-1963
11
Two cases of acatalasia in Switzerland. (13859500)
1961

Variations for Acatalasia

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Acatalasia:

1
id Gene Name Type Significance SNP ID Assembly Location
1CATCAT, 2-BP INS, 138GAinsertionPathogenic/card/acatalasia

Expression for genes affiliated with Acatalasia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Acatalasia

Search GEO for disease gene expression data for Acatalasia.

Pathways for genes affiliated with Acatalasia

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Compounds for genes affiliated with Acatalasia

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GO Terms for genes affiliated with Acatalasia

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Products for genes affiliated with Acatalasia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Acatalasia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet