MCID: ACT021
MIFTS: 28

Acatalasia malady

Rare diseases, Metabolic diseases categories
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Summaries for Acatalasia

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Genetics Home Reference:21 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.

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

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

Description from OMIM:46 614097

Aliases & Classifications for Acatalasia

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 62UMLS, 9diseasecard, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 57SNOMED-CT, 39NCIt, 34MeSH, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Acatalasia, Aliases & Descriptions:

Name: Acatalasia 8 42 21 10 62
Acatalasemia 9 42 22 21 46 44 48
Catalase Deficiency 42 21 48 62
 
Deficiency of Catalase 8 62
Acatalasaemia 62
Catalase 9


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:2582
NCIt39 C84526
MeSH34 D020642
OMIM46 614097
ICD10 via Orphanet26 E80.3
UMLS via Orphanet63 C0268419

Related Diseases for Acatalasia

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

Graphical network of diseases related to Acatalasia:



Diseases related to acatalasia

Symptoms for Acatalasia

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Clinical features from OMIM:

614097

HPO human phenotypes related to Acatalasia:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 oral ulcer HP:0000155
3 reduced catalase activity HP:0012517

Drugs & Therapeutics for Acatalasia

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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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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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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

Variations for Acatalasia

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Clinvar genetic disease variations for Acatalasia:

6
id Gene Name Type Significance SNP ID Assembly Location
1CATCAT, 2-BP INS, 138GAinsertionPathogenic

Expression for genes affiliated with Acatalasia

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet