MCID: ACT021
MIFTS: 27

Acatalasia malady

Metabolic diseases category

Summaries for Acatalasia

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Sources:
63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Acatalasia (also called acatalasemia, or Takahara\'s disease) is an autosomal recessive peroxisomal... more...

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

Description from OMIM:46 614097

Aliases & Classifications for Acatalasia

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 60UMLS, 9diseasecard, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 34MeSH, 56SNOMED-CT, 39NCIt, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
acatalasemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Variable


Aliases & Descriptions:

acatalasia 8 42 10 60
acatalasemia 9 42 22 46 44 48
catalase deficiency 42 48
deficiency of catalase 8
catalase 9


External Ids:

Disease Ontology8 DOID:2582
MeSH34 D020642
NCIt39 C84526
OMIM46 614097
SNOMED-CT via Orphanet57 111393000, 267454002
ICD10 via Orphanet26 E80.3

Related Diseases for Acatalasia

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Acatalasia:



Diseases related to acatalasia

Clinical Features for Acatalasia

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46OMIM
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Clinical features from OMIM:

614097

Drugs & Therapeutics for Acatalasia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Acatalasia

Search CenterWatch 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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50PubMed
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Articles related to Acatalasia:

(show all 12)
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
GENETIC HETEROGENEITY IN HUMAN ACATALASIA. (14097235)
1963
11
Observations in two Swiss families with acatalasia. (14011143)
1962-1963
12
Two cases of acatalasia in Switzerland. (13859500)
1961

Genetic Variations for Acatalasia

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Expression for genes affiliated with Acatalasia

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Sources:
1BioGPS, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet