Disease #00616

Official abbreviation PRLTS
Name Perrault syndrome (PRLTS)
OMIM ID 233400
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
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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