All individuals with variants in gene ALMS1

136 entries on 2 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

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Remarks     

Gender     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

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Owner     
00000003 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000012 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00034519 - PubMed: Wang 2011, Journal: Wang 2011 4-generation family, 6 affecteds (3F, 3M), family, unaffected heterozygous carrier parents/sibs - yes Saudi Arabia - - 0 - - LCA see paper; nystagmus, cataracts, fundus defects, other retinal defects; no other syndromic phenotypes (no hearing loss, no obesity) 1 6 Xia Wang
00046458 FamPatIII4 PubMed: Lazar 2015; Journal: Lazar 2015 3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/sister F - Israel Arab, Muslim - 0 - - CORD, LGMD2B muscular dystrophy (HP:0003560), elevated serum creatine phosphokinase (HP:0003236), lower limb muscle weakness (HP:0007340), visual loss (HP:0000572), photophobia (HP:0000613), pendular nystagmus (HP:0012043), rod-cone dystrophy (HP:0000510) 1 2 Csilla Lazar
00050677 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected and affected2nd degree relatives F - United Kingdom (Great Britain) - - 0 Decipher - ? truncal obesity, joint hypermobility, obstructive sleep apnea, central sleep apnea, delayed speech and language development, hypernasal speech 2 1 Johan den Dunnen
00073166 26077327-PatIII4 PubMed: Lazar 2015, Journal: Lazar 2015 brother M yes Palestine - - 0 - - ALMS, LGMD2B muscular dystrophy (HP:0003560), elevated serum creatine phosphokinase (HP:0003236), lower limb muscle weakness (HP:0007340), Visual loss (HP:0000572), Photophobia (HP:0000613), Pendular nystagmus (HP:0012043), 1 1 Pieter Klap
00081023 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - ALMS Alstrom syndrome (OMIM:203800) 1 1 Daniel Trujillano
00100098 PKRD176;61176 PubMed: Maranha 2015, Journal: Maranhao 2015, PubMed: Li 2017 - M yes Pakistan Pakistani - 0 - - retinal disease - 1 1 James Hejtmancik
00154952 - - - ? - (Germany) - - 0 - - ? Global developmental delay (HP:0001263); Autistic behavior (HP:0000729); Cardiomyopathy (HP:0001638) 2 1 IMGAG
00155380 - Sharon, submitted - F yes Israel Arab-Muslim - 0 - - LCA - 1 2 Dror Sharon
00205367 - - - M no Spain white - 0 Yes - - - 1 1 Angel Campos-Barros
00207481 - - - M - - - - 0 - - LCA - 2 1 Marta de Castro-Miró
00207616 - - - F - - - - 0 - - MCKD-2 - 1 4 Marta de Castro-Miró
00288207 Pat17 PubMed: Lee 2019 - - - United States - - 0 - - ? abnormality of the tympanic membrane, acanthosis nigricans, accelerated skeletal maturation, astigmatism, blepharophimosis, broad foot, chronic otitis media, developmental delay, dysmorphic features, hepatic steatosis, hypermetropia, increased body weight, long palm, macrocephaly, myopia, nystagmus, photophobia, polyphagia,premature adrenarche, round face, short toe, sleep apnea, sleep disturbance, sparse pubic hair, visual impairment 1 1 Johan den Dunnen
00292823 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 17 Mohammed Faruq
00292824 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 6 Mohammed Faruq
00292825 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 100 Mohammed Faruq
00292826 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 41 Mohammed Faruq
00292827 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00292828 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00292829 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00292830 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00292831 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 137 Mohammed Faruq
00295303 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00304834 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00304835 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00308473 - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00308474 - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00308945 - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00308946 - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00308947 - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00308948 - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00315500 - - - F - Switzerland - 57y - - - SUD - 1 1 Cordula Haas
00324526 patient PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017 2-generation family, 1 affected, unaffected parents M no Japan - >20y 0 - - COD see paper; ..., decreased central vision (HP:0007663), extreme photophobia (HP:0000613), progressive visual loss in both eyes (HP:0000529), dyschromatopsia (HP:0007641), absent rod-and cone-mediated responses on ERG (HP:0007688) 1 1 Najlae Akhiyate
00325425 1577 PubMed: Zenteno 2020 - - - Mexico - - 0 - - retinal disease - 2 1 Johan den Dunnen
00328291 W000162 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Asia-South - 0 - - retinal disease - 1 1 LOVD
00328848 JU#1085 PubMed: Katagiri 2017 - M - Japan - - 0 - - retinal disease see paper; ... 2 1 LOVD
00331729 RP-1232 PubMed: Sanchez-Navarro 2018 - - - Spain - - 0 - - retinal disease retinitis pigmentosa, hearing loss, obesity, diabetes, NPHP, hypogonadism, hypothyroidism, hyperinsulinemia, acantosis nigricans 1 1 LOVD
00331730 RP-2186 PubMed: Sanchez-Navarro 2018 - - - Spain - - 0 - - retinal disease early retinal dystrophy, overweight, dilated cardiomyopathy, diabetes 2 1 LOVD
00331731 RP-2177 PubMed: Sanchez-Navarro 2018 - - - Spain - - 0 - - retinal disease cone-rod dystrophy, hearing loss, dilated cardiomyopathy 2 1 LOVD
00332287 Fam32PatFBP_170 PubMed: Porto 2017 proband - - Brazil - - 0 - - retinal disease - 2 1 LOVD
00333360 Pat14 PubMed: Costa 2017 - M - Brazil - - 0 - - retinal disease see paper; ... 1 1 LOVD
00358808 AR400-03 PubMed: Lindstrand 2016 - F no United States - - 0 - - BBS see paper; ... 1 1 LOVD
00358830 176610 - - F - Germany - - 0 - - ALMS (+) Renal insufficiency,(+) Hearing impairment,(+) Depressivity,(+) Hepatic steatosis,(+) Obesity,(+) Dilated cardiomyopathy,(+) Type II diabetes mellitus,(+) Retinitis / Sister cardiomyopathy at 23 yrs also RP, hearing loss, kidney and liver problems. 2 1 Andreas Laner
00358917 Fam29 PubMed: Wang 2016 family, 1 affected, unaffected heterozygous carrier parents - - China Han - 0 - - retinal disease see paper; ... 2 1 LOVD
00361833 Patient 47 Bahena et al., 2021 (submitted) - M yes Iran - - 0 - - ALMS - 1 2 Barbara Vona
00361835 Patient 48 Bahena et al., 2021 (submitted) - F no Iran - - 0 - - ALMS - 1 1 Barbara Vona
00361837 Patient 49 Bahena et al., 2021 (submitted) - M yes Iran - - 0 - - ALMS - 1 1 Barbara Vona
00362081 QT148 PubMed: Xu 2016, PubMed: Huang 2016 - - - China - - 0 - - retinal disease - 1 1 Johan den Dunnen
00362082 QT230 PubMed: Xu 2016, PubMed: Huang 2016 - - - China - - 0 - - retinal disease - 2 1 Johan den Dunnen
00362083 QT395 PubMed: Xu 2016, PubMed: Huang 2016 - - - China - - 0 - - retinal disease - 1 1 Johan den Dunnen
00362084 QT989 PubMed: Xu 2016, PubMed: Huang 2016 - - - China - - 0 - - retinal disease - 2 1 Johan den Dunnen
00362085 QT1249 PubMed: Xu 2016, PubMed: Huang 2016 - - - China - - 0 - - retinal disease - 2 1 Johan den Dunnen
00362921 CHRO234 PubMed: Weisschuh 2016 family - - Germany - - 0 - - retinal disease see paper; ... 1 1 LOVD
00363611 10DG0142 PubMed: Patel 2016 - - - Saudi Arabia - - 0 - - retinal disease non-syndromic 1 1 LOVD
00363629 10DG1288 PubMed: Patel 2016 - - - Saudi Arabia - - 0 - - retinal disease syndromic 1 1 LOVD
00363633 10DG1583 PubMed: Patel 2016 - - - Saudi Arabia - - 0 - - retinal disease syndromic 1 1 LOVD
00363664 11DG1978 PubMed: Patel 2016 - - - Saudi Arabia - - 0 - - retinal disease non-syndromic 1 1 LOVD
00363704 12DG1296 PubMed: Patel 2016 - - - Saudi Arabia - - 0 - - retinal disease syndromic 1 1 LOVD
00372499 497 PubMed: Wang 2015 index case - - China - - 0 - - retinal disease see paper; ... 1 1 LOVD
00372501 123 PubMed: Wang 2015 index case - - China - - 0 - - retinal disease see paper; ... 1 1 LOVD
00372502 162 PubMed: Wang 2015 index case - - China - - 0 - - retinal disease see paper; ... 1 1 LOVD
00372505 128 PubMed: Wang 2015 index case - - China - - 0 - - retinal disease see paper; ... 2 1 LOVD
00372506 165 PubMed: Wang 2015 index case - - China - - 0 - - retinal disease see paper; ... 2 1 LOVD
00372507 695 PubMed: Wang 2015 index case - - China - - 0 - - retinal disease see paper; ... 2 1 LOVD
00372509 126 PubMed: Wang 2015 index case - - China - - 0 - - retinal disease see paper; ... 2 1 LOVD
00372666 RP016 PubMed: Xu 2014 family F - China - - 0 - - retinal disease see paper; ... 2 1 LOVD
00372678 RP367 PubMed: Xu 2014 patient M - China - - 0 - - retinal disease see paper; ... 2 1 LOVD
00372689 RP109 PubMed: Xu 2014 - - - China - - 0 - - retinal disease see paper; ... 2 1 LOVD
00372690 RP190 PubMed: Xu 2014 - - - China - - 0 - - retinal disease see paper; ... 2 1 LOVD
00372707 RP160 PubMed: Xu 2014 - - - China - - 0 - - retinal disease see paper; ... 3 1 LOVD
00372725 RP308 PubMed: Xu 2014 - - - China - - 0 - - retinal disease see paper; ... 2 1 LOVD
00373497 RH10-PatII1 PubMed: Liu 2015 - M - China - - 0 - - retinal disease see paper; ... 2 1 LOVD
00373509 RH11 PubMed: Liu 2015 - - - China - - 0 - - retinal disease see paper; ... 1 1 LOVD
00373883 OGI-322-765 PubMed: Consugar 2015 - - - United States - - 0 - - retinal disease see paper; ... 2 1 LOVD
00375411 RP#002 PubMed: Katagiri 2014 family - - Japan - - 0 - - retinal disease see paper; ... 1 1 LOVD
00375421 RP#013 PubMed: Katagiri 2014 family - - Japan - - 0 - - retinal disease see paper; ... 1 1 LOVD
00375425 RP#019 PubMed: Katagiri 2014 family - - Japan - - 0 - - retinal disease see paper; ... 1 1 LOVD
00375435 RP#030 PubMed: Katagiri 2014 family - - Japan - - 0 - - retinal disease see paper; ... 1 1 LOVD
00379810 2016101713 PubMed: Wang 2018 - F ? China Han Chinese - 0 - - retinal disease patient did not show characteristic Alstrom syndromic features such as obesity, hearing loss, diabetes mellitus, and learning difficulties. 2 1 LOVD
00380123 09DG00838 PubMed: Patel 2018 - - likely Oman - - 0 - - retinal disease - 1 1 LOVD
00380127 10DG0115 PubMed: Patel 2018 - - yes Saudi Arabia - - 0 - - retinal disease - 1 1 LOVD
00380135 12DG0838 PubMed: Patel 2018 - - yes Saudi Arabia - - 0 - - retinal disease - 1 1 LOVD
00381236 - PubMed: Wang-2013 patient carry novel LOF mutation in other retinal disease genes - no - - - 0 - - retinal disease - 2 1 Julia Lopez
00381238 - PubMed: Wang-2013 patient carry homozygous novel missense mutation in other retinal disease genes.Alström syndrome - no - - - 0 - - retinal disease - 1 1 Julia Lopez
00382480 342 PubMed: Jespersgaar 2019 - ? - Denmark - - 0 - - retinal disease - 1 1 LOVD
00383152 - PubMed: Sathya Priya-2015 - - - - - - 0 - - retinal disease obesity, polydactyly 1 1 LOVD
00383153 - PubMed: Sathya Priya-2015 - - - - - - 0 - - retinal disease obesity, learning disability 1 1 LOVD
00383408 - PubMed: Khan 2019 - F - - - - 0 - - retinal disease - 1 1 LOVD
00384255 13196 PubMed: Wang 2019 - M - China - - 0 - - retinal disease - 2 1 LOVD
00384261 13263 PubMed: Wang 2019 - M - China - - 0 - - retinal disease - 2 1 LOVD
00384264 13286 PubMed: Wang 2019 - M - China - - 0 - - retinal disease - 2 1 LOVD
00384275 13360 PubMed: Wang 2019 - M - China - - 0 - - retinal disease - 2 1 LOVD
00384305 13559 PubMed: Wang 2019 - M - China - - 0 - - retinal disease - 1 1 LOVD
00384334 13738 PubMed: Wang 2019 - M - China - - 0 - - retinal disease - 2 1 LOVD
00384990 10131 PubMed: Xu 2020 - ? no China - - 0 - - retinal disease photophobia, nystagmus, best corrected visual acuity right/left eye: 0.02/0.04 2 1 LOVD
00384991 10159 PubMed: Xu 2020 - ? no China - - 0 - - retinal disease photophobia, nystagmus, best corrected visual acuity right/left eye: NA 2 1 LOVD
00385078 67280 PubMed: Xu 2020 - ? no China - - 0 - - retinal disease photophobia, no nystagmus, oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: 0.25/0.25 2 1 LOVD
00385082 67340 PubMed: Xu 2020 - ? no China - - 0 - - retinal disease photophobia, nystagmus, oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: LP/LP 2 1 LOVD
00385227 - PubMed: Redin-2012 - - - Turkey - - 0 - - retinal disease - 1 1 LOVD
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