MCID: ACT021
MIFTS: 25

Acatalasia malady

Metabolic category

Summaries for Acatalasia

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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:47 614097

Aliases & Classifications for Acatalasia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 61UMLS, 9diseasecard, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 35MeSH, 57SNOMED-CT, 40NCIt, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Metabolic


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

acatalasia 8 43 10 61
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
NCIt40 C84526
OMIM47 614097
ICD10 via Orphanet26 E80.3
SNOMED-CT via Orphanet58 267454002

Related Diseases for Acatalasia

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



Diseases related to acatalasia

Clinical Features for Acatalasia

Sources:
47OMIM
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Clinical features from OMIM:

614097

Drugs & Therapeutics for Acatalasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Acatalasia

Drug clinical trials:

Search ClinicalTrials for Acatalasia

Search NIH Clinical Center for Acatalasia

Search CenterWatch for Acatalasia

Genetic Tests for Acatalasia

Sources:
22GTR
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Genetic tests related to Acatalasia:

id Genetic test Affiliating Genes
1 Acatalasemia22

Anatomical Context for Acatalasia

Animal Models for Acatalasia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Acatalasia

Sources:
51PubMed
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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

Expression for genes affiliated with Acatalasia

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

Compounds for genes affiliated with Acatalasia

GO Terms for genes affiliated with Acatalasia

Products for genes affiliated with Acatalasia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Acatalasia

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet