Disease #00616 (PRLTS (Perrault syndrome))

Official abbreviation PRLTS
Name Perrault syndrome
OMIM ID -
Inheritance -
Individuals reported having this disease 32
Phenotype entries for this disease 32
Associated with 7 genes C10orf12, CLPP, DAP3, ERAL1, HARS2, HSD17B4, LARS2
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2025-01-06 10:12:39 +01:00 (CET)


Individuals

32 entries on 1 page. Showing entries 1 - 32.
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00056385 - PubMed: Demain 2016, Journal: Demain 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) Brazilian - - - - PRLTS see paper; ... HSD17B4 HSD17B4 2 1 Leigh Demain
00073126 - ATX107 - F - France - - - - - PRLTS - HSD17B4 HSD17B4 2 1 Claire Guissart
00087075 - PubMed: Jenkinson 2013, Journal: Jenkinson 2013 2-generation family, 3 affecteds (3F), unaffected heterozygous carrier parents F yes United Kingdom (Great Britain) Pakistani - - - - PRLTS see paper; profound congenital sensorineural hearing loss, premature ovarian failure, short stature, microcephaly, seizures, moderate learning difficulties, truncal/cerebellar ataxia with signs of lower limb spasticity, ... CLPP CLPP 1 3 Johan den Dunnen
00087076 - PubMed: Jenkinson 2013, Journal: Jenkinson 2013 2-generation family, 4 affected sisters, unaffected heterozygous carrier parents F yes Pakistan - - - - - PRLTS see paper; hearing loss, primary amenorrhea, hypogonadism, ... CLPP CLPP 1 4 Johan den Dunnen
00087077 - PubMed: Jenkinson 2013, Journal: Jenkinson 2013 4-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents F;M yes Pakistan - - - - - PRLTS see paper; profound congenital sensorineural hearing loss, no additional self-reported medical problems; formal evaluation hormone profiles not possible, ... CLPP CLPP 1 3 Johan den Dunnen
00087079 - PubMed: Lerat 2016, Journal: Lerat 2016 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Algeria - - - - - PRLTS severe deafness, age onset 3y/6y resp., progressive, Amenorrhea II (age onset 22y/33y), no neurological symptoms CLPP CLPP 1 2 Johan den Dunnen
00087080 - PubMed: Ahmed 2015, Journal: Ahmed 2015 5-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents F;M - Saudi Arabia - - - - - PRLTS see paper; profound hearing loss, brain atrophy, lower limb spasticity in early childhood, ... CLPP, HSD17B4 CLPP, HSD17B4 3 3 Johan den Dunnen
00087081 - PubMed: Dursun 2016, Journal: Dursun 2016 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M yes Turkey - - - - - PRLTS no neurological findings, sensory neuronal hearing loss; female only had secondary amenorrhea, gonadal dysgenesis CLPP CLPP 1 2 Johan den Dunnen
00087123 - PubMed: Lerat 2016, Journal: Lerat 2016 3-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes - Morocco - - - - PRLTS see paper; ..., severe deafness, amenorrhea I, ataxia, sensory-motor polyneuropathy, arachnodactyly C10orf2 C10orf2 1 2 Johan den Dunnen
00087124 - PubMed: Lerat 2016, Journal: Lerat 2016 - - yes - Morocco - - - - PRLTS see paper;, ..., profound deafness, amenorrhea II (onset 25y), no neurological symptoms, hypothyroidism HARS2 HARS2 1 1 Johan den Dunnen
00087125 - PubMed: Lerat 2016, Journal: Lerat 2016 - - yes - Morocco - - - - PRLTS see paper;, ..., profound deafness, amenorrhea II (onset 26y), no neurological symptoms, hypothyroidism HARS2 HARS2 1 1 Johan den Dunnen
00087126 - PubMed: Lerat 2016, Journal: Lerat 2016 - - no - Sri Lanka - - - - PRLTS see paper;, ..., moderate deafness, amenorrhea I, no neurological symptoms, cleft palate LARS2 LARS2 2 1 Johan den Dunnen
00282358 - PubMed: Pierce 2013 - - - - - - - - - PRLTS - LARS2 LARS2 1 1 Global Variome, with Curator vacancy
00282359 - PubMed: Pierce 2013 - - - - - - - - - PRLTS - LARS2 LARS2 1 1 Global Variome, with Curator vacancy
00282360 - PubMed: Pierce 2013 - - - - - - - - - PRLTS - LARS2 LARS2 1 1 Global Variome, with Curator vacancy
00282829 - PubMed: Pierce 2011, PubMed: Pallister 1979 - - - - - - - - - PRLTS - HARS2 HARS2 1 1 Global Variome, with Curator vacancy
00282831 - PubMed: Pierce 2011 - - - - - - - - - PRLTS - HARS2 HARS2 1 1 Global Variome, with Curator vacancy
00282857 - PubMed: Pierce 2010, PubMed: Fiumara 2004, PubMed: McCarthy 1985 - - - - - - - - - PRLTS - HSD17B4 HSD17B4 1 1 Global Variome, with Curator vacancy
00282891 - PubMed: Pierce 2010, PubMed: Xiong 2015 - - - - - - - - - PRLTS - HSD17B4 HSD17B4 1 1 Global Variome, with Curator vacancy
00285270 - PubMed: Jenkinson 2013, PubMed: Szafranski 2015 - - - - - - - - - PRLTS - CLPP CLPP 1 1 Global Variome, with Curator vacancy
00285271 - PubMed: Szafranski 2015, PubMed: Jenkinson 2013, PubMed: Jenkinson 2012 - - - - - - - - - PRLTS - CLPP CLPP 1 1 Global Variome, with Curator vacancy
00285272 - PubMed: Ain 2007, PubMed: Jenkinson 2013, PubMed: Rehman 2011, PubMed: Szafranski 2015 - - - - - - - - - PRLTS - CLPP CLPP 1 1 Global Variome, with Curator vacancy
00380580 patient PubMed: Souissi 2021 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Lebanon - - - - - PRLTS see paper; ... - HARS2 1 1 Johan den Dunnen
00380581 Pat1 PubMed: Chatzispyrou 2017 2-generation family, 1 affected, unaffected parents F - Netherlands - - - - - PRLTS see paper; ... - ERAL1 1 1 Johan den Dunnen
00380582 Pat2 PubMed: Chatzispyrou 2017 2-generation family, affected daughter/father, unaffected heterozygous mother and affected homozygous father F - Netherlands - - - - - PRLTS see paper; ..., 4y-sensorineural hearing loss; more severe in high frequencies, slowly progressive; 18y-primary amenorrhea, underdeveloped secondary sexual characteristics, abdominal ultrasound revealed streak ovaries and small uterus, ovary biopsy showed fibrous tissue without primordial follicles - ERAL1 1 2 Johan den Dunnen
00380583 Pat3 PubMed: Chatzispyrou 2017 2-generation family, 1 affected, unaffected parents F - Netherlands - - - - - PRLTS see paper; ... - ERAL1 1 1 Johan den Dunnen
00388711 Fam1 PubMed: Hochbeg 2021 4-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives F yes - - - - - - PRLTS sensorineural hearing loss, primary ovarian insufficiency, - KIAA0391 1 3 Johan den Dunnen
00459526 Pat1 PubMed: Smith 2025 2-generation family, 1 affected, unaffected heterozygous carrier mother F no United Kingdom (Great Britain) - - - - - PRLTS see paper; ..., bilateral sensorineural hearing loss; severity profound; 48y-unilateral cochlear implant, previously bilateral hearing aids; primary ovarian insufficiency; primary amenorrhea; no lactic acidosis; no hypoglycemia; MRI brain normal; no epilepsy; no intellectual disability; no renal dysfunction; no retinopathy; no hepatomegaly; no transient liver failure; adult height 148cm - DAP3 2 1 Johan den Dunnen
00459527 Pat2 PubMed: Smith 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) - - - - - PRLTS see paper; ..., bilateral sensorineural hearing loss; severity profound; bilateral hearing aids, 20y-bilateral cochlear implants; primary ovarian insufficiency; primary amenorrhea; childhood lactic acidosis; childhood hypoglycemia; MRI brain normal; no epilepsy; mild intellectual disability; no renal dysfunction; no retinopathy; no hepatomegaly; no transient liver failure - DAP3 2 1 Johan den Dunnen
00459528 Pat3 PubMed: Smith 2025 2-generation family, 1 affected, unaffected parents F - Tajikistan - - - - - PRLTS see paper; ..., bilateral sensorineural hearing loss; primary ovarian insufficiency; primary amenorrhea; mild intellectual disability; no renal dysfunction; no retinopathy; no hepatomegaly; no transient liver failure - DAP3 1 1 Johan den Dunnen
00459529 Pat4 PubMed: Smith 2025 2-generation family, 1 affected, unaffected parents F yes Tunisia - - - - - PRLTS see paper; ..., bilateral sensorineural hearing loss; severity profound; hearing aids; 2y-lactic acidosis; no hypoglycemia; MRI brain diffuse leukodystrophy; epilepsy; severe intellectual disability; proximal tubulopathy; retinopathy; hepatomegaly; transient liver failure; 8y-height 107cm - DAP3 1 1 Johan den Dunnen
00459530 Pat5 PubMed: Smith 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes India - - - - - PRLTS see paper; ..., lactic acidosis; MRI brain normal; epilepsy; no renal dysfunction; no retinopathy; hepatomegaly; transient liver failure; 6m-height 6 cm - DAP3 1 1 Johan den Dunnen
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