All individuals with variants in gene PIEZO1

20 entries on 1 page. Showing entries 1 - 20.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00043814 - - - M yes (United Kingdom (Great Britain)) - - - - - dysplasia, lymphatic, generalised See paper: Fotiou 2015 1 1 Pia Ostergaard
00043815 - Journal: Fotiou et al 2015 - F yes (United Kingdom (Great Britain)) - - - - - dysplasia, lymphatic, generalised See paper: Fotiou 2015 1 1 Pia Ostergaard
00043816 - Journal: Fotiou et al 2015 - M no (United Kingdom (Great Britain)) - - - - - dysplasia, lymphatic, generalised See paper: Fotiou 2015 2 1 Pia Ostergaard
00043817 - - - M no (United Kingdom (Great Britain)) - - - - - dysplasia, lymphatic, generalised See paper: Fotiou 2015 2 1 Pia Ostergaard
00043818 - - - F no (United Kingdom (Great Britain)) - - - - - dysplasia, lymphatic, generalised See paper: Fotiou 2015 2 1 Pia Ostergaard
00043819 - Journal: Fotiou et al 2015 - F no (United Kingdom (Great Britain)) - - - - - dysplasia, lymphatic, generalised See paper: Fotiou 2015 2 1 Pia Ostergaard
00043820 - Journal: Fotiou et al 2015 - F no (United Kingdom (Great Britain)) - - - - - dysplasia, lymphatic, generalised See paper: Fotiou 2015 2 1 Pia Ostergaard
00043821 - Journal: Fotiou et al 2015 - M yes (United Kingdom (Great Britain)) - - - - - dysplasia, lymphatic, generalised See paper: Fotiou 2015 1 1 Pia Ostergaard
00043823 - Journal: Fotiou et al 2015 - F no (United Kingdom (Great Britain)) - - - - - dysplasia, lymphatic, generalised See paper: Fotiou 2015 3 1 Pia Ostergaard
00269121 - - - ? - - - - - - - ? Macroglossia (HP:0000158); Hydrops fetalis (HP:0001789); Abnormality of the abdomen (HP:0001438) 1 1 Andreas Laner
00291576 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00291577 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00299641 FamGC3626Pat2 PubMed: Arno 2017 2-generation family, 1 affeted M - - - - - - - retinal disease see paper; ..., 29y-photopsia (HP:0030786), slightly reduced acuity (HP:0007663), mild nyctalopia (HP:0000662); irregular pigmented lesions in periphery(HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), peripheral telangiectasia (HP:0007763) with some retinal edema (HP:0020120) and vitreous cells (HP:0004327), possible para-arteriolar sparing; 29y-ERG no identifiable responses other than a minimal, delayed response to 30Hz flicker (PERG, EOG and ERG tested), severe photoreceptor dysfunction; 29y-colour vision Ishihara 15/15 each eye; 29y-Goldmann visual fields ring scotoma at 30 degrees, binocular Esterman age 36: central 20 degrees only retained; presenting VA logMAR (Snellen) R 0.48 (20/60), L 0.3 (20/40); latest VA logMAR R 1.8 (20/1250), L 1.5 (20/630); latest refractive error, dioptres R -1.00/-1.00x5, L +0.75/-1.00x90 3 1 Johan den Dunnen
00303369 - - child of heterozygous mother with a history of neonatal hemolytic anemia M - United States Mexico;Ecuador 00y03m - no phototherapy HAG Decreased glucose-6-phosphate dehydrogenase level in red blood cells; Neonatal hemolytic anemia; Hb10.5g/dL; HCT 29.7%; RET 2.54% (89.9x10^3/uL); G6PD activity 2.9U/gHb (ref 9.9-16.6 U/gHb) 1 1 Scott Reading
00394126 Pat1 PubMed: Milev 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents, second-degree cousins F yes Italy - - - - - ? uneventful pregnancy; perinatal distress; illness provoked regression; 16m/39m-illness provoked regression events, multiple minor events; delayed development prior to first event, regression after first event; CK during illnesses up to 16000 (U/L), intermittent fluctuating: normal range/up to 1000; MRI 10m-delayed myelination, 16m-acute encephalopathy with posterior oedema, 18m-atrophy, 30m-increased atrophy; severe global developmental delay; 11m-sit alone, subsequently lost ability, never achieved independent walking; no speech; acquired microcephaly; tetraplegia; dystonia; epilepsy, polytherapy with anti-epileptic drugs (AEDs); cerebral visual impairment; 39m-protein-losing enteropathy9m-developmental delay; 1 1 Johan den Dunnen
00394128 FamPatII2 PubMed: Al-Deri 2021 2-generation family, 3 affected sibs, unaffected heterozygous carrier parents/relatives F no United States Jewish-Ashkenazi - - - - ? unremarkable prenatal/perinatal development; 12m-developmental delay; no illness provoked regression; 12m-sit independently, never crawled, 2y-walk; severe expressive language delay; no tetraplegia; no dystonia, no seizures 1 3 Johan den Dunnen
00394129 FamPatII3 PubMed: Al-Deri 2021 sister F no United States Jewish-Ashkenazi - - - - ? unremarkable prenatal/perinatal development; 4m-developmental delay; no illness provoked regression; very mild motor delay, 15m-walk; severe expressive language delay; no tetraplegia; no dystonia, no seizures 1 1 Johan den Dunnen
00394130 FamPatII4 PubMed: Al-Deri 2021 brother M no United States Jewish-Ashkenazi - - - - ? unremarkable prenatal/perinatal development; MRI brain 2y-normal; 6m-developmental delay; no illness provoked regression; 12m-sit, 18m-crawl, 2-3y-walk; severe expressive language delay; no tetraplegia; no dystonia, no seizures 1 1 Johan den Dunnen
00433140 Pat121,1 PubMed: Stray-Pedersen 2017 - M - Norway - - - - - IMD immuno-osseous dysplasia, chromosomal disorder and other syndromic primary immunodeficiency diseases 1 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.