Acatalasemia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

ACATLAS MCID: ACT209 MIFTS: 44	Acatalasemia (ACATLAS) Categories: Genetic diseases, Metabolic diseases, Oral diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Acatalasemia

MalaCards integrated aliases for Acatalasemia:

Name: Acatalasemia ⁵⁶ ⁷⁴ ⁵² ²⁵ ⁵⁸ ⁷³ ³⁶ ¹³ ⁵⁴ ³⁹

Acatalasia ⁵⁶ ¹² ⁵² ²⁵ ⁷³ ²⁹ ⁶ ⁴³ ¹⁵ ¹⁷ ⁷¹

Catalase Deficiency ⁵⁶ ⁵² ²⁵ ⁵⁸ ⁷³ ⁷¹

Deficiency of Catalase ¹²

Takahara's Disease ⁷³

Takahara Disease ⁷³

Acatlas ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

HPO:

³¹

acatalasemia:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Oral diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of porphyrin and bilirubin metabolism

Defects of catalase and peroxidase

Orphanet: ⁵⁸

Inborn errors of metabolism

External Ids:

Disease Ontology ¹² DOID:2582

OMIM ⁵⁶ 614097

KEGG ³⁶ H00203

MeSH ⁴³ D020642

NCIt ⁴⁹ C84526

SNOMED-CT ⁶⁷ 267454002

ICD10 via Orphanet ³³ E80.3

UMLS via Orphanet ⁷² C0268419 C2931868

Orphanet ⁵⁸ ORPHA926

MedGen ⁴¹ C0268419

EFO ¹⁷ EFO_0004144

UMLS ⁷¹ C0268419 C2931868

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Summaries for Acatalasemia

Genetics Home Reference : ²⁵ 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. Some of the first reported individuals with acatalasemia developed open sores (ulcers) inside the mouth that led to the death of soft tissue (gangrene). When mouth ulcers and gangrene occur with acatalasemia, the condition is known as Takahara disease. These complications are rarely seen in more recent cases of acatalasemia, probably because of improvements in oral hygiene. Studies suggest that people with acatalasemia have an increased risk of developing type 2 diabetes, which is the most common form of diabetes. A higher percentage of people with acatalasemia have type 2 diabetes than in the general population, and the disease tends to develop at an earlier age (in a person's thirties or forties, on average). Researchers speculate that acatalasemia could also be a risk factor for other common, complex diseases; however, only a small number of cases have been studied.

MalaCards based summary : Acatalasemia, also known as acatalasia, is related to peroxisome biogenesis disorder 1a and vitiligo-associated multiple autoimmune disease susceptibility 1. An important gene associated with Acatalasemia is CAT (Catalase), and among its related pathways/superpathways are Tryptophan metabolism and Peroxisome. Affiliated tissues include liver, neutrophil and kidney, and related phenotypes are reduced catalase level and oral ulcer

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 926 Definition A rare congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide. Epidemiology The disorder is very rare in the general population with an estimated prevalence of 1 in 31250. Clinical description The disorder is usually asymptomatic but may be associated with oral ulcerations and gangrene, or diabetes mellitus and atherosclerosis in certain populations. Genetic counseling Transmission is autosomal recessive . Visit the Orphanet disease page for more resources.

OMIM : ⁵⁶ Acatalasemia, also known as acatalasia, is a metabolic disorder characterized by a total or near total loss of catalase activity in erythrocytes. About half of cases originate from ulcerating oral gangrenes, and these cases are referred to as having Takahara disease. Half-normal levels of catalase in heterozygotes is referred to as hypocatalasemia or hypocatalasia (Ogata, 1991). (614097)

KEGG : ³⁶ Acatalasia is an autosomal recessive peroxisomal disorder caused by deficiency of erythrocyte catalase that metabolizes both hydrogen peroxide and a variety of substrates such as ethanol, methanol, phenol and nitrites. Catalase has an important protective function against the toxic effects of peroxides generated in peroxisomes and removes them with high efficiency. The Japanese, Swiss, and Hungarian types of acatalasemia display differences in biochemical and genetic aspects. Takahara's disease shows progressive oral gangrene and formerly occurred in about half of Japanese acatalasemia patients.

UniProtKB/Swiss-Prot : ⁷³ 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. Acatalasemia is inherited as an autosomal recessive trait.

Wikipedia : ⁷⁴ Acatalasia is an autosomal recessive peroxisomal disorder caused by absent or very low levels of the... more...

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Related Diseases for Acatalasemia

Diseases related to Acatalasemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)

#	Related Disease	Score	Top Affiliating Genes
1	peroxisome biogenesis disorder 1a	29.9	PEX5 PEX3
2	vitiligo-associated multiple autoimmune disease susceptibility 1	29.8	PRDX5 CAT
3	zellweger spectrum disorder	29.2	PEX5 PEX3
4	neonatal adrenoleukodystrophy	28.9	PEX5 PEX3 CAT
5	zellweger syndrome	28.3	SLC25A17 PEX5 PEX3 PEX11A CAT
6	adrenoleukodystrophy	28.3	SLC25A17 PEX5 PEX3 CAT
7	refsum disease, classic	27.8	SLC25A17 PEX5 PEX3 PEX11A CAT
8	peroxisomal disease	27.7	SLC25A17 PEX5 PEX3 PEX11A CAT
9	peroxisome biogenesis disorder 1b	27.7	SLC25A17 PEX5 PEX3 PEX11A CAT
10	diabetes mellitus	10.3
11	vitiligo-associated multiple autoimmune disease susceptibility 6	10.3
12	autosomal recessive disease	10.2
13	hepatorenal syndrome	10.2
14	hemosiderosis	10.2
15	hypertonia	10.2
16	atherosclerosis susceptibility	10.1
17	anemia, x-linked, with or without neutropenia and/or platelet abnormalities	10.1
18	beta-thalassemia	10.1
19	deficiency anemia	10.1
20	renal fibrosis	10.1
21	thalassemia	10.1
22	methemoglobinemia	10.1
23	microcytic anemia	10.1
24	gestational diabetes	10.1
25	ureteral obstruction	10.1
26	periodontitis	10.1
27	age-related hearing loss	10.1
28	argyria	10.1
29	iron deficiency anemia	9.9	HBG2 CAT
30	aniridia 1	9.9
31	haemophilus influenzae	9.9
32	color blindness	9.9	PDE6H PDE6A
33	refsum disease, infantile form	9.8
34	atrial standstill 1	9.7
35	diabetes mellitus, noninsulin-dependent	9.7
36	fibrosis of extraocular muscles, congenital, 1	9.7
37	mental and growth retardation with amblyopia	9.7
38	hutchinson-gilford progeria syndrome	9.7
39	urate oxidase, pseudogene	9.7
40	wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome	9.7
41	cystic fibrosis	9.7
42	xeroderma pigmentosum, variant type	9.7
43	gonadoblastoma	9.7
44	aging	9.7
45	microvascular complications of diabetes 3	9.7
46	microvascular complications of diabetes 4	9.7
47	microvascular complications of diabetes 6	9.7
48	microvascular complications of diabetes 7	9.7
49	pertussis	9.7
50	hypertrophic cardiomyopathy	9.7

Graphical network of the top 20 diseases related to Acatalasemia:

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Symptoms & Phenotypes for Acatalasemia

Human phenotypes related to Acatalasemia:

³¹ ⁵⁸ (show all 18)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	reduced catalase level ³¹	hallmark (90%)		HP:0012517
2	oral ulcer ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000155
3	type ii diabetes mellitus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005978
4	gingival bleeding ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000225
5	gingivitis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000230
6	gangrene ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0100758
7	microcytic anemia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001935
8	severe periodontitis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000166
9	old-aged sensorineural hearing impairment ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0040113
10	type i diabetes mellitus ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0100651
11	vitiligo ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001045
12	schizophrenia ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0100753
13	parkinsonism ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001300
14	pain ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0012531
15	arteriosclerosis ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0002634
16	neoplasm of the larynx ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0100605
17	premature loss of permanent teeth ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0006357
18	reduced catalase activity ⁵⁸		Very frequent (99-80%)

Clinical features from OMIM:

614097

GenomeRNAi Phenotypes related to Acatalasemia according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance	GR00327-A	8.8	CAT GPX1 HBG2

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Drugs & Therapeutics for Acatalasemia

Search Clinical Trials , NIH Clinical Center for Acatalasemia

Cochrane evidence based reviews: acatalasia

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Genetic Tests for Acatalasemia

Genetic tests related to Acatalasemia:

#	Genetic test	Affiliating Genes
1	Acatalasia ²⁹	CAT

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Anatomical Context for Acatalasemia

MalaCards organs/tissues related to Acatalasemia:

⁴⁰

Liver, Neutrophil, Kidney, Lung, Testes

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Publications for Acatalasemia

Articles related to Acatalasemia:

(show top 50) (show all 139)

#	Title	Authors	PMID	Year
1	Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia. ⁵⁶ ⁶ ⁵⁴ ⁶¹	Goth L...Kalmar T	11001624	2000
2	A novel human catalase mutation (358 T-->del) causing Japanese-type acatalasemia. ⁵⁶ ⁶¹ ⁵⁴	Hirono A...Miwa S	8673475	1995
3	Acatalasemia. ⁵⁶ ⁶¹ ⁵⁴	Ogata M	1999334	1991
4	Detection of a common mutation of the catalase gene in Japanese acatalasemic patients. ⁶¹ ⁵⁶	Kishimoto Y...Sekiya T	1551654	1992
5	Molecular analysis of an acatalasemic mouse mutant. ⁶¹ ⁵⁶	Shaffer JB...Preston KE	2268310	1990
6	Molecular analysis of human acatalasemia. Identification of a splicing mutation. ⁵⁶ ⁶¹	Wen JK...Ogata M	2308162	1990
7	Congenital acatalasemia: a study of neutrophil functions after provocation with hydrogen peroxide. ⁵⁶ ⁶¹	Matsunaga T...Hitzig WH	4069828	1985
8	GENETIC HETEROGENEITY IN HUMAN ACATALASIA. ⁵⁶ ⁶¹	HAMILTON HB...NEEL JV	14097235	1963
9	The frequency in Japan of carriers of the rare "recessive" gene causing acatalasemia. ⁵⁶ ⁶¹	HAMILTON HB...OZAKI K	13904105	1961
10	Hereditary catalase deficiencies and increased risk of diabetes. ⁵⁶	Goth L...Eaton JW	11117918	2000
11	A DUAL HEREDITARY RED BLOOD CELL DEFECT IN ONE FAMILY: HYPOCATALASEMIA AND GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY. ⁵⁶	SZEINBERG A...EZRA R	14075877	1963
12	Mammalian acatalasemia: the perspectives of bioinformatics and genetic toxicology. ⁶¹ ⁵⁴	Ogata M...Ogino K	19122680	2008
13	Lack of peroxisomal catalase causes a progeric phenotype in Caenorhabditis elegans. ⁶¹ ⁵⁴	Petriv OI...Rachubinski RA	14996832	2004
14	A novel catalase mutation (a G insertion in exon 2) causes the type B of the Hungarian acatalasemia. ⁶¹ ⁵⁴	Goth L	11603354	2001
15	A new type of inherited catalase deficiencies: its characterization and comparison to the Japanese and Swiss type of acatalasemia. ⁵⁴ ⁶¹	Goth L	11500062	2001
16	A novel catalase mutation detected by polymerase chain reaction-single strand conformation polymorphism, nucleotide sequencing, and western blot analyses is responsible for the type C of Hungarian acatalasemia. ⁶¹ ⁵⁴	Goth L...Madarasi I	11197178	2001
17	Redox-dependent catalase mimetic cerium oxide-based nanozyme protect human hepatic cells from 3-AT induced acatalasemia. ⁶¹	Singh R...Singh S	30583218	2019
18	Role of Catalase in Oxidative Stress- and Age-Associated Degenerative Diseases. ⁶¹	Nandi A...Das N	31827713	2019
19	[Bicentennial of catalase research, 1818-2018]. ⁶¹	Goth L	29888660	2018
20	Acatalasia was omitted. ⁶¹	Tsamaloukas AG	25869345	2015
21	[Acatalasemia and type 2 diabetes mellitus]. ⁶¹	Goth L...Kaplar M	25726767	2015
22	Further acatalasemia mutations in human patients from Hungary with diabetes and microcytic anemia. ⁶¹	Nagy T...Goth L	25772105	2015
23	Long-term follow-up evaluation of an acatalasemia boy with severe periodontitis. ⁶¹	Wang Q...Zhang J	24522161	2014
24	Inherited catalase deficiency: is it benign or a factor in various age related disorders? ⁶¹	Goth L...Nagy T	24025477	2013
25	A simple method for examination of polymorphisms of catalase exon 9: rs769217 in Hungarian microcytic anemia and beta-thalassemia patients. ⁶¹	Nagy T...Goth L	22286031	2012
26	Acatalasemia and diabetes mellitus. ⁶¹	Goth L...Nagy T	22365890	2012
27	Catalase -262C>T polymorphisms in Hungarian vitiligo patients and in controls: further acatalasemia mutations in Hungary. ⁶¹	Kosa Z...Goth L	21947853	2012
28	Decreased blood catalase activity is not related to specific beta-thalassemia mutations in Hungary. ⁶¹	Kosa Z...Goth L	21985133	2012
29	Development of angiotensin II-induced abdominal aortic aneurysms is independent of catalase in mice. ⁶¹	Uchida HA...Makino H	21885993	2011
30	Sensitization to alloxan-induced diabetes and pancreatic cell apoptosis in acatalasemic mice. ⁶¹	Kikumoto Y...Makino H	19883754	2010
31	Low catalase activity in blood is associated with the diabetes caused by alloxan. ⁶¹	Takemoto K...Masuoka N	19563792	2009
32	Increased susceptibility to oxidant-mediated tissue injury and peritoneal fibrosis in acatalasemic mice. ⁶¹	Fukuoka N...Makino H	18337633	2008
33	Catalase deficiency renders remnant kidneys more susceptible to oxidant tissue injury and renal fibrosis in mice. ⁶¹	Kobayashi M...Makino H	16105032	2005
34	Detection of a novel familial catalase mutation (Hungarian type D) and the possible risk of inherited catalase deficiency for diabetes mellitus. ⁶¹	Goth L...Pay A	15800961	2005
35	Methemoglobinemia from hydrogen peroxide in a patient with acatalasemia. ⁶¹	Hamada Y...Isshiki A	15220799	2004
36	Acatalasemia sensitizes renal tubular epithelial cells to apoptosis and exacerbates renal fibrosis after unilateral ureteral obstruction. ⁶¹	Sunami R...Makino H	14722014	2004
37	Catalase enzyme mutations and their association with diseases. ⁶¹	Goth L...Pay A	15771551	2004
38	[Peroxisomal hereditary metabolic disorders]. ⁶¹	Chandoga J...Petrovic R	11766453	2001
39	Molecular basis of D-bifunctional protein deficiency. ⁶¹	Moller G...Adamski J	11165012	2001
40	Lipid and carbohydrate metabolism in acatalasemia. ⁶¹	Goth L	10759482	2000
41	[Acatalasemia--Takahara's disease]. ⁶¹	Perner H...Hawranek T	10460304	1999
42	Catalase as a regulator of the propensity to ingest alcohol in genetically determined acatalasemic individuals from Israel. ⁶¹	Amit Z...Weiss S	20575789	1999
43	Genetic heterogeneity of the 5' uncoding region of the catalase gene in Hungarian acatalasemic and hypocatalasemic subjects. ⁶¹	Goth L	9564558	1998
44	[Acatalasemia, Takahara disease]. ⁶¹	Suzuki Y	9645075	1998
45	Further genetic heterogeneity in acatalasemia. ⁶¹	Goth L	9420149	1997
46	Polymorphism of 5' of the catalase gene in Hungarian acatalasemia and hypocatalasemia. ⁶¹	Goth L...Vitai M	9237564	1997
47	Genetic heterogeneity in acatalasemia. ⁶¹	Goth L...Pay A	8874054	1996
48	Hungarian hereditary acatalasemia and hypocatalasemia are not associated with chronic hemolysis. ⁶¹	Goth L...Vitai M	7758204	1995
49	Further characterization of Hungarian acatalasemia by Hinf1 polymorphism of catalase gene. ⁶¹	Goth L...Sussman HH	7916241	1993
50	Two cases of acatalasemia in Hungary. ⁶¹	Goth L	1591863	1992

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Genes for Acatalasemia

Genes related to Acatalasemia (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CAT	Catalase	Protein Coding	1400.43	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	11001624 19122680 1999334 (more) 11001624 11197178 8673475 14996832 11500062 11603354
2	HBG2	Hemoglobin Subunit Gamma 2	Protein Coding	6.49	GeneCards inferred via : Publications (show sections)
3	PEX3	Peroxisomal Biogenesis Factor 3	Protein Coding	5.98	DISEASES inferred ¹⁵
4	PDE6H	Phosphodiesterase 6H	Protein Coding	5.96	DISEASES inferred ¹⁵
5	PDE6A	Phosphodiesterase 6A	Protein Coding	5.65	DISEASES inferred ¹⁵
6	GPX1	Glutathione Peroxidase 1	Protein Coding	5.57	DISEASES inferred ¹⁵
7	PRDX5	Peroxiredoxin 5	Protein Coding	5.46	DISEASES inferred ¹⁵
8	SLC25A17	Solute Carrier Family 25 Member 17	Protein Coding	5.37	DISEASES inferred ¹⁵
9	PEX5	Peroxisomal Biogenesis Factor 5	Protein Coding	5.36	DISEASES inferred ¹⁵
10	PEX11A	Peroxisomal Biogenesis Factor 11 Alpha	Protein Coding	5.28	DISEASES inferred ¹⁵

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Variations for Acatalasemia

ClinVar genetic disease variations for Acatalasemia:

⁶ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	CAT	CAT, 2-BP INS, 138GA	insertion	Pathogenic	29622

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Expression for Acatalasemia

Search GEO for disease gene expression data for Acatalasemia.

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Pathways for Acatalasemia

Pathways related to Acatalasemia according to KEGG:

³⁶

#	Name	Kegg Source Accession
1	Tryptophan metabolism	hsa00380
2	Peroxisome	hsa04146

Pathways related to Acatalasemia according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism of nucleotides ⁶⁵ Show member pathways 5-aminoimidazole ribonucleotide biosynthesis ¹ adenine and adenosine salvage I ¹ adenine and adenosine salvage II ¹ adenine and adenosine salvage III ¹ adenosine nucleotides degradation ¹ guanine and guanosine salvage ¹ guanosine nucleotides degradation ¹ inosine-5-phosphate biosynthesis ¹ oxidized GTP and dGTP detoxification ¹ Phosphate bond hydrolysis by NTPDase proteins ⁶⁵ Phosphate bond hydrolysis by NUDT proteins ⁶⁵ Purine catabolism ⁶⁵ purine deoxyribonucleosides degradation ¹ Purine metabolism ³⁶ Purine metabolism ⁶⁵ purine nucleotides degradation ¹ Purine ribonucleoside monophosphate biosynthesis ⁶⁵ purine ribonucleosides degradation to ribose-1-phosphate ¹ Purine salvage ⁶⁵ Pyrimidine biosynthesis ⁶⁵ Pyrimidine catabolism ⁶⁵ Pyrimidine metabolism ⁶⁵ Pyrimidine metabolism ³⁶ pyrimidine ribonucleosides salvage I ¹ Pyrimidine salvage reactions ⁶⁵ UMP biosynthesis ¹ urate biosynthesis/inosine 5-phosphate degradation ¹ UTP and CTP dephosphorylation II ¹	12.13	PDE6H PDE6A GPX1 CAT
2	Glucose / Energy Metabolism ⁴	12.07	PEX5 GPX1 CAT
3	Folate Metabolism ¹ Show member pathways Selenium Micronutrient Network ¹ thioredoxin pathway ¹ Vitamin B12 Metabolism ¹	11.83	PRDX5 GPX1 CAT
4	Peroxisome ³⁶	11.02	SLC25A17 PRDX5 PEX5 PEX3 PEX11A CAT
5	Doxorubicin Pathway, Pharmacokinetics ⁶⁰ Show member pathways Doxorubicin Pathway (Cancer Cell), Pharmacodynamics ⁶⁰	10.97	GPX1 CAT
6	Detoxification of Reactive Oxygen Species ⁶⁵ Show member pathways Oxidative Stress Regulatory Pathway (Erythrocyte) ⁶⁰ reactive oxygen species degradation ¹	10.87	PRDX5 GPX1 CAT
7	Oxidative Stress ¹	10.75	GPX1 CAT

Sources

GO Terms for Acatalasemia

Cellular components related to Acatalasemia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein-containing complex	GO:0032991	9.56	PEX5 PEX3 PEX11A CAT
2	peroxisomal membrane	GO:0005778	9.35	SLC25A17 PEX5 PEX3 PEX11A CAT
3	integral component of peroxisomal membrane	GO:0005779	9.33	SLC25A17 PEX3 PEX11A
4	peroxisomal matrix	GO:0005782	9.32	PRDX5 CAT
5	peroxisome	GO:0005777	9.1	SLC25A17 PRDX5 PEX5 PEX3 PEX11A CAT

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

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	response to oxidative stress	GO:0006979	9.61	PRDX5 GPX1 CAT
2	cellular response to oxidative stress	GO:0034599	9.54	PRDX5 GPX1 CAT
3	protein targeting to peroxisome	GO:0006625	9.52	PEX5 CAT
4	response to hydrogen peroxide	GO:0042542	9.51	GPX1 CAT
5	fatty acid beta-oxidation	GO:0006635	9.49	SLC25A17 PEX5
6	triglyceride metabolic process	GO:0006641	9.48	GPX1 CAT
7	response to reactive oxygen species	GO:0000302	9.46	GPX1 CAT
8	UV protection	GO:0009650	9.4	GPX1 CAT
9	peroxisome organization	GO:0007031	9.33	PEX5 PEX3 PEX11A
10	protein import into peroxisome membrane	GO:0045046	9.32	PEX5 PEX3
11	peroxisome membrane biogenesis	GO:0016557	9.26	PEX3 PEX11A
12	cellular oxidant detoxification	GO:0098869	9.26	PRDX5 HBG2 GPX1 CAT
13	hydrogen peroxide catabolic process	GO:0042744	8.92	PRDX5 HBG2 GPX1 CAT

Molecular functions related to Acatalasemia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	3',5'-cyclic-nucleotide phosphodiesterase activity	GO:0004114	9.32	PDE6H PDE6A
2	antioxidant activity	GO:0016209	9.26	PRDX5 CAT
3	3',5'-cyclic-GMP phosphodiesterase activity	GO:0047555	9.16	PDE6H PDE6A
4	peroxisome targeting sequence binding	GO:0000268	8.96	PEX5 CAT
5	peroxidase activity	GO:0004601	8.92	PRDX5 HBG2 GPX1 CAT

Sources

Sources for Acatalasemia

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Acatalasemia (ACATLAS)

Aliases & Classifications for Acatalasemia

MalaCards integrated aliases for Acatalasemia:

Characteristics:

Orphanet epidemiological data:

HPO:

Classifications:

External Ids:

Summaries for Acatalasemia

Related Diseases for Acatalasemia

Diseases related to Acatalasemia via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Acatalasemia:

Symptoms & Phenotypes for Acatalasemia

Human phenotypes related to Acatalasemia:

Clinical features from OMIM:

GenomeRNAi Phenotypes related to Acatalasemia according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Acatalasemia

Cochrane evidence based reviews: acatalasia

Genetic Tests for Acatalasemia

Genetic tests related to Acatalasemia:

Anatomical Context for Acatalasemia

MalaCards organs/tissues related to Acatalasemia:

Publications for Acatalasemia

Articles related to Acatalasemia:

Genes for Acatalasemia

Genes related to Acatalasemia (1 elite genes):

Variations for Acatalasemia

ClinVar genetic disease variations for Acatalasemia:

Expression for Acatalasemia

Pathways for Acatalasemia

Pathways related to Acatalasemia according to KEGG:

Pathways related to Acatalasemia according to GeneCards Suite gene sharing:

GO Terms for Acatalasemia

Cellular components related to Acatalasemia according to GeneCards Suite gene sharing:

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

Molecular functions related to Acatalasemia according to GeneCards Suite gene sharing:

Sources for Acatalasemia