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

PROTEIN INTERACTIONS: 1

Perrault syndrome

4 OMIM references -
4 associated genes
20 signs/symptoms

Acatalasemia

Perrault syndrome

CAT	(UniProt - OMIM)		CLPP	(UniProt - OMIM)
			HARS2	(UniProt - OMIM)
			HSD17B4	(UniProt - OMIM)
			LARS2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CAT	(0.49)	HSD17B4

Citations in the biomedical literature:

Acatalasemia		Perrault syndrome
	Synonym(s): - Catalase deficiency		Synonym(s): - XX gonodal dysgenesis - deafness

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare otorhinolaryngologic disease - Rare urogenital disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: adolescence / young Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 4 OMIM references - No MeSH references

Perrault syndrome
	Very frequent - Abnormal / polycystic ovaries - Autosomal recessive inheritance - Late puberty / hypogonadism / hypogenitalism - Primary amenorrhea - Sensorineural deafness / hearing loss - Uterine / uterus / Fallopian tubes anomalies Frequent - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Short stature / dwarfism / nanism Occasional - Ataxia / incoordination / trouble of the equilibrium - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Hemiplegia / diplegia / hemiparesia / limb palsy - Intellectual deficit / mental / psychomotor retardation / learning disability - Nerve conduction abnormality - Nystagmus - Oculomotor apraxia / dyspraxia - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Peripheral neuropathy - Precocious menopause / secondary amenorrhea - Ptosis - Scoliosis
Acatalasemia
(no data available)