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Perrault syndrome 6(PRLTS6)

MedGen UID:
1391447
Concept ID:
C4479656
Disease or Syndrome
Synonym: PRLTS6
 
Gene (location): ERAL1 (17q11.2)
 
Monarch Initiative: MONDO:0033047
OMIM®: 617565

Disease characteristics

Excerpted from the GeneReview: Perrault Syndrome
Perrault syndrome is characterized by sensorineural hearing loss (SNHL) in males and females and ovarian dysfunction in females. SNHL is bilateral and ranges from profound with prelingual (congenital) onset to moderate with early-childhood onset. When onset is in early childhood, hearing loss can be progressive. Ovarian dysfunction ranges from gonadal dysgenesis (absent or streak gonads) manifesting as primary amenorrhea to primary ovarian insufficiency (POI) defined as cessation of menses before age 40 years. Fertility in affected males is reported as normal (although the number of reported males is limited). Neurologic features described in some individuals with Perrault syndrome include learning difficulties and developmental delay, cerebellar ataxia, and motor and sensory peripheral neuropathy. [from GeneReviews]
Authors:
William G Newman  |  Thomas B Friedman  |  Gerard S Conway, et. al.   view full author information

Additional description

From OMIM
Perrault syndrome-6 (PRTLS6) is an autosomal recessive disorder characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility (summary by Chatzispyrou et al., 2017).  http://www.omim.org/entry/617565

Clinical features

From HPO
Premature ovarian insufficiency
MedGen UID:
9963
Concept ID:
C0025322
Disease or Syndrome
Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.
Irregular menstruation
MedGen UID:
56379
Concept ID:
C0156404
Finding
Abnormally high variation in the amount of time between periods.
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
Secondary amenorrhea
MedGen UID:
115919
Concept ID:
C0232940
Disease or Syndrome
The cessation of menstruation for six months or more in a female that is not pregnant, breastfeeding or menopausal.
Streak ovary
MedGen UID:
78597
Concept ID:
C0266371
Congenital Abnormality
A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.
Uterine hypoplasia
MedGen UID:
120575
Concept ID:
C0266399
Congenital Abnormality
Underdevelopment of the uterus.
Sensorineural hearing impairment
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

Recent clinical studies

Etiology

Öcal G, Berberoğlu M, Sıklar Z, Aycan Z, Hacıhamdioglu B, Savas Erdeve Ş, Çamtosun E, Kocaay P, Ruhi HI, Kılıç BG, Tukun A
J Pediatr Adolesc Gynecol 2015 Feb;28(1):6-11. Epub 2014 Nov 12 doi: 10.1016/j.jpag.2014.01.106. PMID: 25444050

Diagnosis

Lerat J, Jonard L, Loundon N, Christin-Maitre S, Lacombe D, Goizet C, Rouzier C, Van Maldergem L, Gherbi S, Garabedian EN, Bonnefont JP, Touraine P, Mosnier I, Munnich A, Denoyelle F, Marlin S
Hum Mutat 2016 Dec;37(12):1354-1362. Epub 2016 Oct 7 doi: 10.1002/humu.23120. PMID: 27650058
Ahmed S, Jelani M, Alrayes N, Mohamoud HS, Almramhi MM, Anshasi W, Ahmed NA, Wang J, Nasir J, Al-Aama JY
J Neurol Sci 2015;353(1-2):149-54. Epub 2015 May 1 doi: 10.1016/j.jns.2015.04.038. PMID: 25956234
Öcal G, Berberoğlu M, Sıklar Z, Aycan Z, Hacıhamdioglu B, Savas Erdeve Ş, Çamtosun E, Kocaay P, Ruhi HI, Kılıç BG, Tukun A
J Pediatr Adolesc Gynecol 2015 Feb;28(1):6-11. Epub 2014 Nov 12 doi: 10.1016/j.jpag.2014.01.106. PMID: 25444050

Clinical prediction guides

Ahmed S, Jelani M, Alrayes N, Mohamoud HS, Almramhi MM, Anshasi W, Ahmed NA, Wang J, Nasir J, Al-Aama JY
J Neurol Sci 2015;353(1-2):149-54. Epub 2015 May 1 doi: 10.1016/j.jns.2015.04.038. PMID: 25956234

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