MCID: ACT021
MIFTS: 30

Acatalasia malady

Rare diseases, Metabolic diseases categories

Summaries for Acatalasia

About this section


OMIM:46 Acatalasemia, also known as acatalasia, is a metabolic disorder characterized by a total or near total loss of catalase... (614097) more...

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

Genetics Home Reference:22 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.

Wikipedia:64 Acatalasia (also called acatalasemia, or Takahara\'s disease) is an autosomal recessive peroxisomal... more...

Aliases & Classifications for Acatalasia

About this section
Sources:
9Disease Ontology, 42NIH Rare Diseases, 22Genetics Home Reference, 11DISEASES, 61UMLS, 10diseasecard, 23GTR, 46OMIM, 44Novoseek, 48Orphanet, 56SNOMED-CT, 39NCIt, 34MeSH, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Acatalasia, Aliases & Descriptions:

Name: Acatalasia 9 42 22 11 61
Acatalasemia 10 42 23 22 46 44 48
Catalase Deficiency 42 22 48 61
 
Deficiency of Catalase 9 61
Acatalasaemia 61
Catalase 10


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 Ontology9 DOID:2582
NCIt39 C84526
MeSH34 D020642
OMIM46 614097
ICD10 via Orphanet27 E80.3
UMLS via Orphanet62 C0268419

Related Diseases for Acatalasia

About this section

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

About this section


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

About this section

Drug clinical trials:

Search ClinicalTrials for Acatalasia

Search NIH Clinical Center for Acatalasia

Genetic Tests for Acatalasia

About this section

Genetic tests related to Acatalasia:

id Genetic test Affiliating Genes
1 Acatalasemia23

Anatomical Context for Acatalasia

About this section

Animal Models for Acatalasia or affiliated genes

About this section

Publications for Acatalasia

About this section

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

About this section

Clinvar genetic disease variations for Acatalasia:

7
id Gene Name Type Significance SNP ID Assembly Location
1CATCAT, 2-BP INS, 138GAinsertionPathogenic

Expression for genes affiliated with Acatalasia

About this section
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

About this section

Compounds for genes affiliated with Acatalasia

About this section

GO Terms for genes affiliated with Acatalasia

About this section

Products for genes affiliated with Acatalasia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Acatalasia

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet