MCID: PRR025
MIFTS: 41
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Perrault Syndrome
Categories:
Ear diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Perrault Syndrome:
Characteristics:Orphanet epidemiological data:58
perrault syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood; Classifications:
MalaCards categories:
Global: Rare diseases Metabolic diseases Fetal diseases Genetic diseases Anatomical: Reproductive diseases Ear diseases Endocrine diseases Neuronal diseases Mental diseases
ICD10:
33
Orphanet: 58
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Genetics Home Reference :
25
Perrault syndrome is a rare condition that causes different patterns of signs and symptoms in affected males and females. A key feature of this condition is hearing loss, which occurs in both males and females. Affected females also have abnormalities of the ovaries. Neurological problems occur in some affected males and females.
In Perrault syndrome, the problems with hearing are caused by changes in the inner ear, which is known as sensorineural hearing loss. The impairment usually affects both ears and can be present at birth or begin in early childhood. Unless hearing is completely impaired at birth, the hearing problems worsen over time.
Females with Perrault syndrome have abnormal or missing ovaries (ovarian dysgenesis), although their external genitalia are normal. Severely affected girls do not begin menstruation by age 16 (primary amenorrhea), and most never have a menstrual period. Less severely affected women have an early loss of ovarian function (primary ovarian insufficiency); their menstrual periods begin in adolescence, but they become less frequent and eventually stop before age 40. Women with Perrault syndrome may have difficulty conceiving or be unable to have biological children (infertile).
Neurological problems in individuals with Perrault syndrome can include intellectual disability, difficulty with balance and coordinating movements (ataxia), and loss of sensation and weakness in the limbs (peripheral neuropathy). However, not everyone with this condition has neurological problems.
MalaCards based summary : Perrault Syndrome, also known as ovarian dysgenesis with sensorineural deafness, is related to perrault syndrome 4 and perrault syndrome 1. An important gene associated with Perrault Syndrome is HSD17B4 (Hydroxysteroid 17-Beta Dehydrogenase 4), and among its related pathways/superpathways are Aminoacyl-tRNA biosynthesis and Primary bile acid biosynthesis. Affiliated tissues include ovary, and related phenotype is mortality/aging. Disease Ontology : 12 A syndrome that is characterized by sensorineural hearing loss and ovarian failure. NIH Rare Diseases : 52 Perrault syndrome is an inherited condition characterized by sensorineural hearing loss in males and females, and abnormalities of the ovaries in females. Neurological problems may also occur. The condition has several genetic causes. Mutations in the following genes have been found in a small number of affected individuals: C10orf2 , CLPP , HARS2 , LARS2 , or HSD17B4 . It is likely that other genes are also involved. Perrault syndrome is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations. The condition should be managed by a team of specialists, including an audiologist and otolaryngologist for hearing loss , an endocrinologist for primary amenorrhea , and a reproductive specialist for issues related to infertility. KEGG : 36 Perrault syndrome is a genetically and clinically heterogeneous autosomal-recessive condition characterized by sensorineural hearing loss and ovarian failure. Previously mutations have been described in different genes, mostly related to mitochondrial proteostasis. Wikipedia : 74 XX gonadal dysgenesis is a type of female hypogonadism in which no functional ovaries are present to... more...
GeneReviews:
NBK242617
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Interventional clinical trials:
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Genetic tests related to Perrault Syndrome:
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MalaCards organs/tissues related to Perrault Syndrome:40
Ovary
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Articles related to Perrault Syndrome:(show top 50) (show all 74)
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ClinVar genetic disease variations for Perrault Syndrome:6 (show top 50) (show all 64)
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Cellular components related to Perrault Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Perrault Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Perrault Syndrome according to GeneCards Suite gene sharing:
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