MCID: ACT209
MIFTS: 36

Acatalasemia malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Acatalasemia

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Aliases & Descriptions for Acatalasemia:

Name: Acatalasemia 49 11 45 22 23 47 51 67
Acatalasia 10 45 23 12 67 36 24 65
Catalase Deficiency 45 23 51 67 65
Deficiency of Catalase 10
 
Takahara's Disease 67
Takahara Disease 67
Catalase 11
Acatlas 67

Characteristics:

Orphanet epidemiological data:

51
acatalasemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages

HPO:

61
acatalasemia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 614097
Disease Ontology10 DOID:2582
MeSH36 D020642
NCIt42 C84526
Orphanet51 926
ICD10 via Orphanet28 E80.3
UMLS via Orphanet66 C0268419
MedGen34 C0268419
UMLS65 C0268419, C2931868

Summaries for Acatalasemia

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OMIM:49 Acatalasemia, also known as acatalasia, is a metabolic disorder characterized by a total or near total loss of catalase... (614097) more...

MalaCards based summary: Acatalasemia, also known as acatalasia, is related to peroxisome biogenesis disorder 1a and rheumatoid arthritis, and has symptoms including oral ulcerand reduced catalase activity. An important gene associated with Acatalasemia is CAT (Catalase). Affiliated tissues include bone, bone marrow and spinal cord.

UniProtKB/Swiss-Prot:67 Acatalasemia: A metabolic disorder characterized by a total or near total loss of catalase activity in red cells. It is often associated with ulcerating oral lesions.

Genetics Home Reference:23 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:68 Acatalasia (also called acatalasemia, or Takahara\'s disease) is an autosomal recessive peroxisomal... more...

Related Diseases for Acatalasemia

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Graphical network of the top 20 diseases related to Acatalasemia:



Diseases related to acatalasemia

Symptoms for Acatalasemia

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Clinical features from OMIM:

614097

HPO human phenotypes related to Acatalasemia:

id Description Frequency HPO Source Accession
1 oral ulcer HP:0000155
2 reduced catalase activity HP:0012517

Drugs & Therapeutics for Acatalasemia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Acatalasemia


Cochrane evidence based reviews: acatalasia

Genetic Tests for Acatalasemia

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Genetic tests related to Acatalasemia:

id Genetic test Affiliating Genes
1 Acatalasemia22 CAT

Anatomical Context for Acatalasemia

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MalaCards organs/tissues related to Acatalasemia:

33
Bone, Bone marrow, Spinal cord, Skin, Pituitary

Animal Models for Acatalasemia or affiliated genes

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MGI Mouse Phenotypes related to Acatalasemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Acatalasemia

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Articles related to Acatalasemia:

(show all 24)
idTitleAuthorsYear
1
Acid-sensing Ion Channels Activation and Hypoxia Upregulate Homer1a Expression. (24433527)
2014
2
A child with acquired factor XIII deficiency: case report and literature review. (23607876)
2013
3
Risk of acute postoperative hypertension after topical photodynamic therapy for non-melanoma skin cancer. (23458390)
2013
4
Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation. (22306677)
2012
5
Incidence of neonatal herpes simplex virus infections in the United States, 2006. (21149432)
2011
6
Expression of Tbx2 and Tbx3 in the developing hypothalamic-pituitary axis. (18534921)
2008
7
Swallowing disorders in trauma patients: impact of tracheostomy. (18092644)
2007
8
Construction of a complete rabbit cornea substitute using a fibrin-agarose scaffold. (16877396)
2006
9
Sequential roles for Mash1 and Ngn2 in the generation of dorsal spinal cord interneurons. (15901662)
2005
10
Relapsed infantile Blount's disease treated by hemiplateau elevation using the Ilizarov frame. (12793565)
2003
11
Laugier-Hunziker syndrome: treatment with cryosurgery. (10568501)
1999
12
Inhibition of ribozymes by deoxyribonucleotides and the origin of DNA. (9694660)
1998
13
Double parathyroid adenoma, a clinically nondistinct entity of primary hyperparathyroidism. (9606286)
1998
14
Neurologic abnormalities in two patients with facial hemiatrophy and sclerosis coexisting with morphea. (9144696)
1997
15
Systemic lupus erythematosus and bone marrow necrosis in a dog. (9111694)
1996
16
Inversion-associated translocations in acute myelomonocytic leukemia with eosinophilia. (7534112)
1995
17
How many proteins can be designated by the term "chordin"?]. (8555369)
1995
18
Normal genetic variation at the low density lipoprotein receptor (LDLR) locus influences cholesterol levels in children. (8098997)
1993
19
Human complement factor B: functional properties of a recombinant zymogen of the alternative activation pathway convertase. (8225386)
1993
20
Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex. (8504306)
1993
21
Differential costimulatory effects of adhesion molecules B7, ICAM-1, LFA-3, and VCAM-1 on resting and antigen-primed CD4+ T lymphocytes. (1372018)
1992
22
Cell growth stimulation by EGF: inhibition through antisense-oligodeoxynucleotides demonstrates important role of casein kinase II. (1959559)
1991
23
Unusual "cavity-in-cavity" appearance of pulmonary aspergilloma. (3349803)
1988
24
Lysosomal enzymes in ataxia: discovery of two new cases of late onset hexosaminidase A and B deficiency (adult Sandhoff disease) in French Canadians. (6239679)
1984

Variations for Acatalasemia

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Clinvar genetic disease variations for Acatalasemia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CATCAT, 2-BP INS, 138GAinsertionPathogenic

Expression for genes affiliated with Acatalasemia

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Search GEO for disease gene expression data for Acatalasemia.

Pathways for genes affiliated with Acatalasemia

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GO Terms for genes affiliated with Acatalasemia

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Biological processes related to Acatalasemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1response to hyperoxiaGO:00550939.8CAT, MT-CYB
2response to drugGO:00424939.3CAT, MT-CYB

Sources for Acatalasemia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet