All individuals with variants in gene SDCCAG8

47 entries on 1 page. Showing entries 1 - 47.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00079015 PKRD142;61142 PubMed: Maranha 2015, Journal: Maranhao 2015, PubMed: Li 2017 6-generation family, 11 affecteds (4F, 7M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - retinal disease see paper; ..., progressive 1 11 Johan den Dunnen
00289794 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 19 Mohammed Faruq
00289795 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 23 Mohammed Faruq
00302700 P24 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - F - Oman - - - - - PKD - 1 1 Intisar Al Alawi
00309422 - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00333364 Pat4 PubMed: Costa 2017 - F - Brazil - - - - - retinal disease see paper; ... 1 1 LOVD
00358746 - PubMed: Carrigan 2016 - - - Ireland - - - - - retinal disease see paper; ... 2 1 LOVD
00358747 - PubMed: Carrigan 2016 - - - Ireland - - - - - retinal disease see paper; ... 2 1 LOVD
00358805 KK11-04 PubMed: Lindstrand 2016 - M yes United States - - - - - BBS see paper; ... 1 1 LOVD
00380364 - PubMed: M'hamdi_2014 - F yes Tunisia Tunisian - - - - retinal disease retinitis pigmentaria 1 1 LOVD
00383783 RD18081727_A PubMed: Gao 2019 - ? - China - - - - - retinal disease - 1 1 LOVD
00385234 - PubMed: Redin-2012 - - - Algeria - - - - - retinal disease - 1 1 LOVD
00385284 - PubMed: M'hamdi-2014 - F yes Tunisia Tunisian - - - - retinal disease obesity, retinitis pigmentosa, polydactyly, mental retardation, visual impairment 1 1 LOVD
00387592 - PubMed: Yamamura 2017 - F no Japan Japanese - - - - retinal disease Intellectual disability, epilepsy, mild renal insufficiency, retinitis pigmentosa 1 1 LOVD
00389910 1194 PubMed: Weisschuh 2020 Filing key number: 890, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00391368 36 {PMID:Méjécase 2020:3278337 - ? - United Arab Emirates - - - - - retinal disease - 1 1 LOVD
00391587 86 PubMed: Hull 2020 - ? - New Zealand white - - - - retinal disease - 2 1 LOVD
00399820 625 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - NPHP - 1 1 Johan den Dunnen
00407653 J-50 PubMed: Kang 2016 - ? - Korea, South (Republic) - - - - - retinal disease end-stage renal disease (years): 14, extra-renal manifestations: amblyopia, strabismus, leber congenital amaurosis 2 1 LOVD
00418315 F159-21 PubMed: Otto 2010 family F159, individual 21 - yes - Europe - - - - SLSN7 age at end-stage kidney failure: 11y; retinal degeneration at age: 7y 1 1 LOVD
00418316 F159-22 PubMed: Otto 2010 family F159, individual 22 - yes - Europe - - - - SLSN7 age at end-stage kidney failure: 7y; at 6y no retinal degeneration; other: generalized seizures 1 1 LOVD
00418317 FII.22-21 PubMed: Otto 2010 family FII.22, individual 21 - yes - - - - - - SLSN7 age at end-stage kidney failure: 13y; retinal degeneration at age: 14y; other: mild mental retardation, hypogenitalism, obesity 1 1 LOVD
00418318 FII.22-22 PubMed: Otto 2010 family FII.22, individual 22 - yes - - - - - - SLSN7 age at end-stage kidney failure: 13y; retinal degeneration at age: 1y; other: mild mental retardation, hypogenitalism, obesity 1 1 LOVD
00418319 AR37-05 PubMed: Otto 2010 family AR37, individual 05 - no - Northern European - - - - SLSN7 age at end-stage kidney failure: 22y; retinal degeneration at age: 13y; other: obesity, hypogenitalism, peripheral neuropathy 2 1 LOVD
00418320 AR37-07 PubMed: Otto 2010 family AR37, individual 07 - no - Northern European - - - - SLSN7 no end-stage kidney failure; retinal degeneration at age: 11y; other: mental retardation 2 1 LOVD
00418321 AR37-02 PubMed: Otto 2010 family AR37, individual 02 - no - Northern European - - - - SLSN7 age at end-stage kidney failure: 28y; retinal degeneration at age: 2y; other: obesity, clinodactyly of 5th finger bilaterally 2 1 LOVD
00418322 FI.2-21 PubMed: Otto 2010 family FI.2, individual 21 - yes - Gypsy - - - - SLSN7 age at end-stage kidney failure: 23y; retinal degeneration at age: 29y; other: mild mental retardation, obesity. 1 1 LOVD
00418323 FI.2-22 PubMed: Otto 2010 family FI.2, individual 22 - yes - Gypsy - - - - SLSN7 age at end-stage kidney failure: 13y; retinal degeneration at age: 13y; other: mild mental retardation, obesity. 1 1 LOVD
00418324 FI.2-23 PubMed: Otto 2010 family FI.2, individual 23 - yes - Gypsy - - - - SLSN7 age at end-stage kidney failure: 10y; retinal degeneration at age: 10y; other: mild mental retardation 1 1 LOVD
00418325 FI.2-24 PubMed: Otto 2010 family FI.2, individual 24 - yes - Gypsy - - - - SLSN7 age at end-stage kidney failure: 6y; retinal degeneration at age: 6y 1 1 LOVD
00418326 A2290 PubMed: Otto 2010 family A2290 - yes - Turkey - - - - SLSN7 age at end-stage kidney failure: kidney biopsy demonstrated nephronophthisis: 14y; retinal degeneration at age: age unknown; other: brain: arachnoid cyst, mild mental retardation 1 1 LOVD
00418327 SS-F336-21 PubMed: Otto 2010 family SS, individual F336, individual 21 - yes - Algeria - - - - SLSN7 age at end-stage kidney failure: kidney biopsy demonstrated nephronophthisis: 7y; retinal degeneration at age: 13y; flat electroretinogram; other: mild mental retardation, no liver or bone disease 1 1 LOVD
00418328 SS-F336-22 PubMed: Otto 2010 family SS, individual F336, individual 22 - yes - Algeria - - - - SLSN7 age at end-stage kidney failure: kidney biopsy demonstrated nephronophthisis: 4y; retinal degeneration at age: 6y; flat electroretinogram 1 1 LOVD
00418329 SS23/A1365-21 PubMed: Otto 2010 family SS23/A1365, individual 21 - yes - La Reunion - - - - SLSN7 age at end-stage kidney failure: kidney biopsy demonstrated nephronophthisis: 4y; retinal degeneration at age: 14y; 30% vision; other: brain scan normal 1 1 LOVD
00418330 SS23/A1365-22 PubMed: Otto 2010 family SS23/A1365, individual 22 - yes - La Reunion - - - - SLSN7 age at end-stage kidney failure: kidney biopsy demonstrated nephronophthisis: 4y; retinal degeneration at age: 7y 1 1 LOVD
00418331 NK-F1063 PubMed: Otto 2010 family NK, individual F1063 - no - India - - - - SLSN7 age at end-stage kidney failure: end-stage kidney failure, age unknown; retinal degeneration at age: age unknown; other: obesity, mild mental retardation 2 1 LOVD
00418332 F1054-21 PubMed: Otto 2010 family F1054, individual 21 - yes - Pakistan - - - - SLSN7 age at end-stage kidney failure: <10y; retinal degeneration at age: no data; other: polycystic ovary syndrome 1 1 LOVD
00418333 F1054-22 PubMed: Otto 2010 family F1054, individual 22 - yes - Pakistan - - - - SLSN7 age at end-stage kidney failure: <9y; retinal degeneration at age: no data 1 1 LOVD
00418334 F195 PubMed: Otto 2010 family F195 - - - Germany - - - - SLSN7 age at end-stage kidney failure: kidney biopsy demonstrated nephronophthisis: 22y; retinal degeneration at age: age unknown; other: no data 1 1 LOVD
00418335 II.30 PubMed: Schaefer 2011 family II.30 F yes - Turkish - - - - BBS 5y: hospitalized for general deterioration related to terminal renal failure; obesity (body mass index: 22); cone-rod dystrophy: 5y; chronic renal failure: 5y; no polydactyly; hypogonadism/hypogenitalism: not determined; developmental delay; mild mental retardation and speech delay; conductive hearing loss/ recurrent otitis; since the age of 1 month, recurrent respiratory infection; respiratory failure: not determined; asthma: not determined 1 1 LOVD
00418336 40 PubMed: Billingsley 2012 - F - - East Indian - - - - BBS current body mass index: 32.22; body mass index at 10y: 25.5; kidney: end-stage renal disease, transplant at 11y; short stature; abdominal ultrasound: uterus, ovaries, liver, gallbladder, pancreas, spleen, and bladder normal; cognitive impairment: mild; hearing: conductive loss; smell: normal; digits: normal; transaminases: upper limit of normal; high blood pressure: yes, treated; dental anomalies: absent; cardiac assessment: normal; pulmonary assessment: asthma; diabetes mellitus: absent; seizures: absent; psychiatric assessment: transient period of behavioral changes immediately following renal transplantation; other: slight increase in cholesterol and insulin, no dysmorphism 2 1 LOVD
00418337 59 PubMed: Billingsley 2012 - F - - East Indian - - - - BBS current body mass index: 25.21; body mass index at 10y: 27.1; kidney: end-stage renal disease, transplant at 9y; short stature; abdominal ultrasound: non-alcoholic fatty liver disease (12y), pancreas, heart, uterus, and ovaries normal; cognitive impairment: very mild; hearing: normal; smell: normal; digits: partial syndactyly of 2nd and 3rd toes on both feet; transaminases: elevated since 8y; high blood pressure: yes, treated; dental anomalies: absent; cardiac assessment: trace mitral and tricuspid regurgitation; pulmonary assessment: asthma, recurrent pneumonia; diabetes mellitus: absent; seizures: absent; psychiatric assessment: none noted to date; other: slight increase in triglycerides and insulin, no dysmorphism 2 1 LOVD
00424072 ? PubMed: Tay 2020 - F - New Zealand Ashkenazi and Sephardic Jewish - - - - retinal disease 10y: complaints of nyctalopia and photophobia; despite a hyperopic correction worn from age 5, vision did not improve beyond 0.2; no significant past medical history, no family history of any ocular problems; best-corrected visual acuity right/left eye: 0.3 / 0.2; normal colour vision; ocular alignment and motility: normal with no evidence of nystagmus; fundus: granular with marked atrophy outside the arcades and arteriolar attenuation, minimal retinal pigmentation and mild disc pallor; fundus a utofluorescence: perifoveal ring of hyperautofluorescence correlated to a zone within 1500 microns of the fovea on optical coherence tomography, delineating loss of photoreceptor outer segments and marked thinning of the outer retina; electrophysiology: severely reduced rod and cone responses, indicating a moderately severe rod-cone retinal dystrophy; within a month, the proband presented acutely with end-stage renal failure requiring urgent peritoneal dialysis 2 1 LOVD
00424074 II:2 PubMed: Bahmanpour 2020 proband M - Iran Iranian - - - - BBS current body mass index: 23.1; kidney: end-stage renal disease, transplant; retinal findings: retinitis pigmentosa and cone-rod dystrophy; stature: medium stature; abdominal ultrasound: liver, spleen, pancreas, bladder and prostate are normal, no fluid in abdomen or hip; cognitive impairment: absent; hearing: normal; smell: normal; digits: normal; transaminases: high alanine and aspartate aminotransferase; high blood pressure: no; dental anomalies: no; cardiac assessment: normal; pulmonary assessment: normal; diabetes mellitus: absent; seizures: absent; psychiatric assessment: normal; other: elevated levels of urea, creatinine and cholesterol 1 1 LOVD
00424075 II:1 PubMed: Bahmanpour 2020 proband's sister F - Iran Iranian - - - - BBS current body mass index: 26.4; kidney: normal; retinal findings: retinitis pigmentosa and cone-rod dystrophy; stature: medium stature; cognitive impairment: absent; hearing: normal; smell: normal; digits: normal; transaminases: within normal limits; high blood pressure: no; dental anomalies: no; cardiac assessment: normal; pulmonary assessment: normal; diabetes mellitus: absent; seizures: absent; psychiatric assessment: normal 1 1 LOVD
00447495 ARRP-285 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - ? - 2 2 Johan den Dunnen
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