Disease #00616

Official abbreviation PRLTS
Name Perrault syndrome (PRLTS)
OMIM ID 233400
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 12
Phenotype entries for this disease 12
Associated with 5 genes C10orf12, CLPP, HARS2, HSD17B4, LARS2
Associated tissues -
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Individuals

12 entries on 1 page. Showing entries 1 - 12.
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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 - 0 - - PRLTS see paper; ... HSD17B4 HSD17B4 2 1 Leigh Demain
00073126 - ATX107 - F - France - - 0 - - 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 - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - 0 - - 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 - 0 - - 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 - 0 - - 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 - 0 - - PRLTS see paper;, ..., moderate deafness, amenorrhea I, no neurological symptoms, cleft palate LARS2 LARS2 2 1 Johan den Dunnen
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