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Acatalasemia
1 OMIM reference -
1 associated gene
30 connected diseases
No signs/symptoms info
Disease Type of connection
Bifunctional enzyme deficiency
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Chronic myeloid leukemia
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Primary Fanconi syndrome
Juvenile myelomonocytic leukemia
LEOPARD syndrome
Metachondromatosis
Noonan syndrome
Isolated NADH-CoQ reductase deficiency
Leigh syndrome with leukodystrophy
Atypical Rett syndrome
Combined immunodeficiency due to STIM1 deficiency
Intellectual deficit, X-linked - psychosis - macroorchidism
Perrault syndrome
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Trisomy Xq28
Tubular aggregate myopathy
X-linked non-syndromic intellectual deficit
Synonym(s):
- Catalase deficiency

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
CAT P04040115500
No signs/symptoms info available.