ODCs

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Perrault syndrome

4 OMIM references -
4 associated genes
20 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Developmental malformations - deafness - dystonia

1 OMIM reference -
1 associated gene
22 signs/symptoms

Perrault syndrome

Developmental malformations - deafness - dystonia

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HSD17B4	(0.52)	ACTB

Citations in the biomedical literature:

Perrault syndrome		Developmental malformations - deafness - dystonia
	Synonym(s): - XX gonodal dysgenesis - deafness		Synonym(s): (no synonyms)

	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 (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adolescence / young 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: unknown

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


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability - Scoliosis - Sensorineural deafness / hearing loss - Short stature / dwarfism / nanism

Perrault syndrome		Developmental malformations - deafness - dystonia
	Very frequent - Abnormal / polycystic ovaries - Autosomal recessive inheritance - Late puberty / hypogonadism / hypogenitalism - Primary amenorrhea - Uterine / uterus / Fallopian tubes anomalies Frequent - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy Occasional - Ataxia / incoordination / trouble of the equilibrium - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Hemiplegia / diplegia / hemiparesia / limb palsy - Nerve conduction abnormality - Nystagmus - Oculomotor apraxia / dyspraxia - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Peripheral neuropathy - Precocious menopause / secondary amenorrhea - Ptosis		Very frequent - Autosomal dominant inheritance - Cleft lip and palate - Dystonia / torticollis / writer's cramp / blepharospasms - Early death in adulthood - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Functional colopathy / irritable bowel syndrome - High forehead - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypertelorism - Immunodeficiency / increased susceptibility to infections / recurrent infections - Kyphosis - Macroglossia / tongue protrusion / proeminent / hypertrophic - Megaesophagus / cardiospasm / congenital dilation of the esophagus / achalasia - Psychic / psychomotor regression / dementia / intellectual decline - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Short limbs / micromelia / brachymelia Frequent - Cataract / lens opacification - Visual loss / blindness / amblyopia