ODCs

Click node...

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
13 signs/symptoms

Acatalasemia

Intellectual deficit, X-linked - psychosis - macroorchidism


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CAT	(0.49)	MECP2

Citations in the biomedical literature:

Acatalasemia		Intellectual deficit, X-linked - psychosis - macroorchidism
	Synonym(s): - Catalase deficiency		Synonym(s): - Lindsay-Burn syndrome - PPM-X

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

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

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: x-linked dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references

Intellectual deficit, X-linked - psychosis - macroorchidism
	Very frequent - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Macroorchidism / macrotestes - Movement disorder - Psychic / behavioural troubles - X-linked recessive inheritance Frequent - Abnormal gait - EEG anomalies - Long / large ear - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Psychic / psychomotor regression / dementia / intellectual decline - Scoliosis - Structural anomalies of the cardio-circulatory system
Acatalasemia
(no data available)