Rare Oncology News

Disease Profile

Perrault syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Adolescent

ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

rnn-autosomalrecessive.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

Gonadal dysgenesis, XX type, with deafness; Ovarian dysgenesis with sensorineural deafness; Gonadal dysgenesis, XX type

Categories

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Endocrine Diseases;

Summary

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.[1][2] 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.[2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Areflexia
Absent tendon reflexes
0001284
Cerebellar atrophy
Degeneration of cerebellum
0001272
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment

[ more ]

0100543
Dysarthria
Difficulty articulating speech
0001260
Hyporeflexia
Decreased reflex response
Decreased reflexes

[ more ]

0001265
Motor delay
0001270
Sensorimotor neuropathy
Nerve damage causing decreased feeling and movement
0007141
Spastic diplegia
0001264
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Gait ataxia
Inability to coordinate movements when walking
0002066
Gonadal dysgenesis
0000133
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Increased circulating gonadotropin level
Elevated gonadotropins
Elevated serum gonadotropins
Gonadotropin excess

[ more ]

0000837
Limited extraocular movements
0007941
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Osteoporosis
0000939
Pes cavus
High-arched foot
0001761
Primary amenorrhea
0000786
Scoliosis
0002650
Sensorineural hearing impairment
0000407
Short stature
Decreased body height
Small stature

[ more ]

0004322
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

0001762

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

      In-Depth Information

      • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Perrault syndrome. Click on the link to view a sample search on this topic.

        References

        1. Perrault syndrome. Genetics Home Reference (GHR). December 2014; https://ghr.nlm.nih.gov/condition/perrault-syndrome.
        2. Newman WG, Friedman TB, Conway GS. Perrault syndrome. GeneReviews. September 25, 2014; https://www.ncbi.nlm.nih.gov/books/NBK242617/.