
 Individual 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) |
2 |
1 |
Yu Sun |
00050569 |
- |
PubMed: DDDS 2015, Journal: DDDS 2015 |
affected, unknown family members |
M |
- |
United Kingdom (Great Britain) |
- |
- |
- |
Decipher |
- |
? |
renal dysplasia, optic nerve coloboma, nystagmus, gastroesophageal reflux, global developmental delay |
1 |
1 |
Johan den Dunnen |
00132981 |
29100090-FamDC3 |
PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
CAKUT |
CAKUT, renal agenesis left |
1 |
1 |
Johan den Dunnen |
00132982 |
29100090-FamDC4 |
PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 |
2-genertion family, heterozygous carrier father |
F |
- |
- |
- |
- |
- |
- |
- |
CAKUT |
CAKUT, renal hypoplasia bilateral, cysts; bilateral nervus opticus coloboma, atrial septum defect, obesity |
1 |
2 |
Johan den Dunnen |
00315054 |
- |
PubMed: Sanyanusin 1995 |
Sibling to Family 31; patient 2. Parents had normal ophthalmological exam and no renal disease; mother normal SSCP |
M |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Bilateral optic nerve colobomas; Unilateral renal agenesis, renal failure; 7y-end stage renal disease; 7y-renal transplant |
1 |
1 |
Matthew Bower |
00315055 |
- |
PubMed: Sanyanusin 1995 |
Sibling to Family 31; patient 1. Parents had normal ophthalmological exam and no renal disease; mother normal SSCP |
M |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
bilateral optic nerve coloboma; Mild chronic renal failure |
1 |
1 |
Matthew Bower |
00315056 |
- |
PubMed: Bower 2012 |
Inherited from affected father (Family 32; patient 2) |
M |
- |
United States |
- |
- |
- |
- |
- |
kidney disease |
Morning glory anomaly-bilateral; bilateral renal hypoplasia; 10y-end stage renal disease |
1 |
1 |
Matthew Bower |
00315057 |
- |
PubMed: Bower 2012 |
Father of Family32;patient 1. Apparently de novo origin for this patient. |
- |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Morning glory anomaly-bilateral; renal failure |
1 |
1 |
Matthew Bower |
00315058 |
- |
PubMed: Cheong 2007 |
patient 3 in publication |
M |
- |
Korea |
- |
- |
- |
- |
- |
kidney disease |
Microphthalmia-unilateral; Optic nerve coloboma-unilateral; Renal hypoplasia-bilateral, normal VCUG; kidney renal biopsy: focal segmental glomerulosclerosis, mild mesangial hypercellularity, focal effacement of podocyte foot processes, marked atrophy of tubules, interstitial fibrosis, focal arteriosclerosis. |
1 |
1 |
Matthew Bower |
00315059 |
- |
PubMed: Cheong 2007 |
Patient 4 in publication |
F |
- |
Korea |
- |
- |
- |
- |
- |
kidney disease |
Optic nerve coloboma-bilateral; emmetropia; Renal hypoplasia-bilateral, normal VCUG; 9y-renal transplant |
1 |
1 |
Matthew Bower |
00315060 |
- |
PubMed: Cheong 2007 |
Patient 5 in publication |
M |
- |
Korea |
- |
- |
- |
- |
- |
kidney disease |
Developmental delay. Brain MRI showed enlargement of extra-axial space and delayed myelinization at 4 months.; Optic nerve coloboma-bilateral; nystagmus; esotropia-bilateral; chorioretinal degeneration; Renal hypoplasia-bilateral, echogenic kidneys-bilateral, normal VCUG |
1 |
1 |
Matthew Bower |
00315061 |
- |
PubMed: Cheong 2007 |
Sibling of Family 18; patient 1. Maternal germline mosaicism. Patient 1 in publication |
- |
- |
Korea |
- |
- |
- |
- |
- |
kidney disease |
Optic nerve coloboma-bilateral; esodeviation; retinal edema; chorioretinal degeneration; Macular telangiectases-bilateral; renal hypoplasia-bilateral, renal cyst-unilateral, normal VCUG; 13y-end stage renal disease; 15y-renal transplant |
1 |
1 |
Matthew Bower |
00315062 |
- |
PubMed: Cheong 2007 |
Sibling to Family 18; patient 1. Maternal germline mosaicism. Patient 2 in publication |
M |
- |
Korea |
- |
- |
- |
- |
- |
kidney disease |
Optic nerve coloboma-bilateral; nystagmus; bilateral renal hypoplasia |
1 |
1 |
Matthew Bower |
00315063 |
- |
PubMed: Amiel 2000 |
Patient RA in publication. |
- |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
microphthalmia-bilateral; dysplastic optic nerve-unilateral; retinal degeneration; bilateral renal hypoplasia |
1 |
1 |
Matthew Bower |
00315064 |
- |
PubMed: Amiel 2000 |
Patient PE in publication. |
- |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
retinal coloboma-bilateral; bilateral renal hypoplasia |
1 |
1 |
Matthew Bower |
00315065 |
- |
PubMed: Amiel 2000 |
Sibling to Family 21;patients 2 &3. Paternal germline mosaicism. Patient AR-II1 in publication. |
- |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Morning glory syndrome; bilateral renal hypoplasia |
1 |
1 |
Matthew Bower |
00315066 |
- |
PubMed: Amiel 2000 |
Sibling to Family 21; Patients 1&3. Paternal germline mosaicism. Patient AR-II2 in publication. |
- |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Papillary dysplasia-bilateral; Cystic renal hypoplasia-unilateral |
1 |
1 |
Matthew Bower |
00315067 |
- |
PubMed: Amiel 2000 |
Sibling to family 21; patients 1 &2. Paternal germline mosaicism. Patient AR-II3 in publication. |
- |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Optic nerve coloboma-bilateral; Cystic renal hypoplasia-unilateral |
1 |
1 |
Matthew Bower |
00315068 |
- |
PubMed: Weber 2006 |
Sibling to Family 22;Patient 2. PAX2 mutation inherited from clinically affected father. Patient also harbored a maternally inherited p.(Asp227Tyr) variant in the SIX1 gene. Patient GDA3 in publication. |
F |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Optic nerve coloboma-unilateral; hypoplastic optic disc-unilateral; Renal dysplasia-bilateral, renal cyst |
1 |
1 |
Matthew Bower |
00315069 |
- |
PubMed: Weber 2006 |
Sibling to Family 22;Patient 2. PAX2 mutation inherited from clinically affected father. Patient also harbored a maternally inherited p.(Asp227Tyr) variant in the SIX1 gene. Patient GDA4 in publication. |
F |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Hearing impairment; Optic disc dysplasia; Renal dysplasia-bilateral |
1 |
1 |
Matthew Bower |
00315070 |
- |
PubMed: Weber 2006 |
Patient PRA9 in original publication. |
M |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Optic nerve coloboma; optic disc dysplasia; bilateral renal hypoplasia |
1 |
1 |
Matthew Bower |
00315071 |
- |
PubMed: Weber 2006 |
Patient PAR16 in original publication. De novo with normal parental testing. |
F |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Hearing impairment; Optic nerve coloboma; Multicystic dysplastic kidneys, PUJ obstruction |
1 |
1 |
Matthew Bower |
00315072 |
- |
PubMed: Salomon 2001 |
Patient 2 in original published report. |
- |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Papillary dysplasia; thickening of papilla ; bilateral renal hypoplasia; kidney oligomeganephronia; 5.5y-end stage renal disease |
1 |
1 |
Matthew Bower |
00315073 |
- |
PubMed: Salomon 2001 |
Patient 3 in original published report. de novo with normal parental sequencing. |
- |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Optic nerve coloboma-bilateral; bilateral renal hypoplasia; kidney oligomeganephronia; 7y-end stage renal disease |
1 |
1 |
Matthew Bower |
00315074 |
- |
PubMed: Schimmenti 1997 |
Mother of family 27;patient 2. Unknown origin. Patient 656 in original report. |
F |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
soft skin; Optic disc hyopoplasia-bilateral; bilateral opacities of anterior and posterior lens capsule.; bilateral renal hypoplasia; 24y-end stage renal disease |
1 |
1 |
Matthew Bower |
00315075 |
- |
PubMed: Schimmenti 1997 |
Child of family 27;patient 1. Patient 657 in original published report. |
- |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Soft skin; 46,XY karyotype; Esotropia; exophthalmos; Absent optic nerve head-unilateral; bilateral renal hypoplasia; developmental delay; microcephaly; 14y-renal transplant |
1 |
1 |
Matthew Bower |
00315076 |
- |
PubMed: Weber 2006 |
Father of Family 22; patients 1 and 2. Did not come to clinical attention until diagnosis in daughters. Normal ophthalmological exam. |
M |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
no eye anomalies; Renal hypodysplasia-bilateral |
1 |
1 |
Matthew Bower |
00315077 |
- |
PubMed: Schimmenti 1997 |
Patient 2646 in original published report |
F |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Hypoplastic superior ear helices; upslanting palpebral fissures; bulbous nose; hyperplastic gingiva. Hearing loss (unilateral). 46,XX karyotype.; Optic nerve coloboma-bilateral; amblyopia; bilateral renal hypoplasia; focal segmental glomerulosclerosis; 18y-renal transplant |
1 |
1 |
Matthew Bower |
00315078 |
- |
PubMed: Schimmenti 1999 |
Patient 8691 in original report. |
F |
- |
United States |
African American |
- |
- |
- |
- |
kidney disease |
Soft skin; hyperelasticity; gingival hyperplasia.; Optic nerve coloboma-bilateral; Abnormal retinal pigment epithelium; Renal hypoplasia-bilateral, Echogenic kidneys, Poor corticomedullary differentiation; Chiari malformation type 1; prenatal oligohydramnios, breech presentation.; 3y-renal transplant |
1 |
1 |
Matthew Bower |
00315079 |
- |
PubMed: Bower 2012 |
Sibling to Family 10; patient 2. Inherited from father with optic nerve coloboma. Father is mutation negative in blood, fibroblast, and oral mucosa. |
F |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Morning glory anomaly-bilateral; Renal insufficiency, renal hypoplasia |
1 |
1 |
Matthew Bower |
00315080 |
- |
PubMed: Bower 2012 |
Sibling to Family 10; patient 1. Inherited from father with optic nerve coloboma. Father is mutation negative in blood, fibroblast, and oral mucosa. |
M |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Bilateral morning glory anomaly; no kidney problems |
1 |
1 |
Matthew Bower |
00315081 |
- |
PubMed: Bower 2012 |
de novo with normal parental sequencing. |
M |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Asymmetric growth retardation.; Optic nerve coloboma (left); Morning glory optic disc (right); Proptosis due to cystic coloboma (left); Bilateral cystic kidneys, bilateral renal dysplasia; axial and peripheral hypotonia; global developmental delay; prenatal oligohydramnios, polycystic kidneys, renal dysplasia noted on 2nd trimester ultrasound; 35w-delivery |
1 |
1 |
Matthew Bower |
00315082 |
- |
PubMed: Bower 2012 |
de novo with normal parental sequencing. |
M |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Enlarged optic disc-bilateral; Abnormal retinal pigmentation; Multicystic dysplastic kidneys-unilateral, UPJ obstruction-unilateral; prenatal 18w ultrasound right multicystic dysplastic kidney, left hydronephrosis |
1 |
1 |
Matthew Bower |
00315083 |
- |
PubMed: Bower 2012 |
De novo with normal parental sequencing. |
M |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Optic nerve coloboma-bilateral; bilateral renal hypoplasia |
1 |
1 |
Matthew Bower |
00315084 |
- |
PubMed: Tagami 2010 |
- |
- |
- |
Japan |
- |
- |
- |
- |
- |
kidney disease |
Pulmonary hypoplasia secondary to Potter sequence.; Enlarged optic disc-unilateral; excavated optic disc-unilateral; optic nerve coloboma-bilateral; bilateral renal hypoplasia; prenatal oligohydramnios, potter sequence; 1m-end stage renal disease |
1 |
1 |
Matthew Bower |
00315085 |
- |
PubMed: Bower 2012 |
Offspring of Family 31; patient 2. |
- |
- |
- |
- |
- |
- |
- |
- |
? |
Fetal demise.; bilateral renal hypoplasia; kidney dilated collecting duct system, dilated tubules-bilateral; prenatal 18w-anhydramnios |
1 |
1 |
Matthew Bower |
00315086 |
- |
PubMed: Bower 2012 |
Paternal half niece to family 31; patients 1&2. |
F |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
bilateral renal hypoplasia; 19y-end stage renal disease |
1 |
1 |
Matthew Bower |
00315087 |
- |
PubMed: Porteous 2000 |
Patient X2003 in original report. |
M |
- |
Japan |
- |
- |
- |
- |
- |
kidney disease |
cryptorchidism; Optic nerve coloboma-bilateral; retinal detachment; Renal hypoplasia-bilateral, multicystic kidneys, ; 13y-end stage renal disease |
1 |
1 |
Matthew Bower |
00315088 |
- |
PubMed: Beby 2010 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
joint laxity; mental retardation; seizures; Optic nerve coloboma-bilateral; Posterior lens luxation; calcified keratopathy; Renal hypoplasia-bilateral, Vesicoureteral reflux |
1 |
1 |
Matthew Bower |
00315089 |
- |
PubMed: Chung 2001 |
De novo with normal Allele specific oligonucleotide test in parents. |
F |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Umbilical hernia; inguinal hernia; Optic nerve coloboma-bilateral; Renal hypoplasia-bilateral, renal tubular acidosis; 5y-end stage renal disease; 7y-renal transplant |
1 |
1 |
Matthew Bower |
00315090 |
- |
PubMed: Cunliffe 1998 |
Patient 985 in original published report. |
M |
- |
Netherlands |
- |
- |
- |
- |
- |
kidney disease |
Optic nerve coloboma-bilateral; Cystic dysplastic kidney-unilateral, VUR grade II-III-unilateral |
1 |
1 |
Matthew Bower |
00315091 |
- |
PubMed: Negrisolo 2010 |
De novo with normal parental sequencing. |
F |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Sensorineural hearing loss-bilateral; Myopia; isotropy; Renal hypodysplasia-bilateral, reflux nepropathy |
1 |
1 |
Matthew Bower |
00315092 |
- |
PubMed: Thomas 2011 |
Noted as c.69_70insC in original manuscript. |
M |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
renal hypodysplasia |
1 |
1 |
Matthew Bower |
00315093 |
- |
PubMed: Thomas 2011 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
renal hypodysplasia |
1 |
1 |
Matthew Bower |
00315094 |
- |
{PMID:Schimmenti 1999} |
Daughter of family 8; patient 2. Patient 12961 in original published report. |
F |
- |
- |
white |
- |
- |
- |
- |
kidney disease |
4th and 5th digit clinodactyly; Optic nerve coloboma-bilateral; nystagmus; esotropia; vesicoureteral reflux |
1 |
1 |
Matthew Bower |
00315095 |
- |
PubMed: Schimmenti 1999 |
Mother of family 8; patient 1. Patient 12962 in original published report. |
F |
- |
- |
white |
- |
- |
- |
- |
kidney disease |
bilateral optic nerve coloboma; Renal cysts |
1 |
1 |
Matthew Bower |
00315096 |
- |
PubMed: Amiel 2000 |
Normal sequencing in mother; father unavailable for analysis. |
- |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Optic nerve coloboma-bilateral; bilateral renal hypoplasia |
1 |
1 |
Matthew Bower |
00315097 |
- |
PubMed: Weber 2006 |
Patient PRA1 in original published report. |
- |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Hearing impairment; Renal hypoplasia-bilateral, Vesico Ureteral reflux |
1 |
1 |
Matthew Bower |
00315098 |
- |
PubMed: Salomon 2001 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Optic nerve coloboma-bilateral; Renal hypoplasias-bilateral; 20y-end stage renal disease |
1 |
1 |
Matthew Bower |
00315099 |
- |
PubMed: Schimmenti 1997 |
Patient 579 in original published report. |
M |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
46,XY karyotype. Apparently de novo.; Optic nerve coloboma-bilateral; retinal coloboma-bilateral; bilateral renal hypoplasia; 9y-abnormal EEG with clonic seizures; 2y-end stage renal disease |
1 |
1 |
Matthew Bower |
00315100 |
- |
PubMed: Fletcher 2005 |
Patient II-3 in original published report. Apparently de novo origin. Mother of Family 38; patients 2&3. |
F |
- |
- |
- |
51y |
- |
- |
- |
kidney disease |
Hearing loss-bilateral sensorineural and conductive; Optic nerve coloboma-bilateral; renal hypoplasia-bilateral, medullary sponge kidney, pyelonephritis; kidney medullary sponge kidney; 29y-end stage renal disease |
1 |
1 |
Matthew Bower |
00315101 |
- |
PubMed: Fletcher 2005 |
Patient III-3 in original publication. Son of Family 38; patient 1. |
M |
- |
- |
- |
16y |
- |
- |
- |
kidney disease |
Optic nerve coloboma-bilateral; Renal hypoplasia-bilateral, Vesicoureteral reflux-bilateral grade II-III, UPJ obstruction-unilateral; 14y-end stage renal disease |
1 |
1 |
Matthew Bower |
00315102 |
- |
PubMed: Fletcher 2005 |
Patient III-4 in original publicaction. Daughter of family 38; patient 1. Mother of family 38; patients 4,5,&6. |
F |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Optic nerve coloboma-bilateral; Stable chronic renal impairment, proteinuria |
1 |
1 |
Matthew Bower |
00315103 |
- |
PubMed: Fletcher 2005 |
Patient IV-1 in original published report. Son of Family 38; patient 3. Sibling to Family 38; patients 5 and 6. |
M |
- |
(Afghanistan) |
- |
- |
- |
- |
- |
kidney disease |
Optic nerve coloboma-bilateral; bilateral renal hypoplasia; prenatal bilateral renal hypoplasia |
1 |
1 |
Matthew Bower |
00315104 |
- |
- |
Patient IV-2 in original publication. Twin sister to Family 38; patient 6. Daughter of family 38; patient 3. |
F |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Optic nerve coloboma-unilateral ; Renal hypoplasia-bilateral, renal dysplasia-bilateral; prenatal bilateral renal hypoplasia |
1 |
1 |
Matthew Bower |
00315105 |
- |
PubMed: Fletcher 2005 |
Patient IV-3 in original report. Monozygotic twin to family 38; patient 5. Daughter of family 38; patient 3. |
F |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Optic nerve coloboma-unilateral; Renal hypoplasia-unilateral, Multicystic dysplastic kidney-unilateral; prenatal renal hypoplasia-unilateral, multicystic dysplastic kidney-unilateral |
1 |
1 |
Matthew Bower |
00315106 |
- |
PubMed: Naito 1989, PubMed: Higashide 2005 |
Daughter of Family 42; patient 2. Detailed clinical description in Naito 1989. |
F |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
polydactyly; VSD; Optic nerve coloboma-bilateral; foveal hypoplasia; horizontal nystagmus; Renal malrotation, Anomalous renal pelves |
1 |
1 |
Matthew Bower |
00315107 |
- |
PubMed: Higashide 2005 |
Mother of family 42; patient 1. Original clinical description in Naito 1989. |
F |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Optic disc dysplasia-bilateral; macular atrophy-unilateral; renal failure; 36y-end stage renal disease; 36y-renal transplant |
1 |
1 |
Matthew Bower |
00315108 |
- |
PubMed: DeVriendt 1998 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Optic disc dysplasia-bilateral; papillomacular serous detachment; cystic degeneration of macular; vesicoureteral reflux |
1 |
1 |
Matthew Bower |
00315109 |
- |
PubMed: Devriendt 1998 |
Patient III-8 in original publication. Mutation incorrectly noted as G75S in abstract. |
F |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
excavation of optic disc-bilateral; Cilioretinal vessels-bilateral; abnormal patterning of retinal vessels.; Decreased renal function, proteinuria |
1 |
1 |
Matthew Bower |
00315110 |
- |
PubMed: Devriendt 1998 |
Individual IV-2 in original published report. Mutation incorrectly called G75S in abstract. |
M |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Optic disc dysplasia; Peripapillary atrophy; abnormal retinal vessels; bilateral renal hypoplasia; kidney thin cortex, hypoplastic papillae, cortical cysts, medullary cysts; 32y-end stage renal disease |
1 |
1 |
Matthew Bower |
00315111 |
- |
PubMed: Devriendt 1998 |
Patient IV-3 in original published report. Mutation incorrectly called G75S in abstract. |
F |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Cilioretinal vessels-bilateral; abnormal retinal vessels; Renal hypoplasia-bilateral, proteinuria; kidney hypertrophic glomeruli, atrophic tubules, hypertrophic tubules |
1 |
1 |
Matthew Bower |
00315112 |
- |
PubMed: Devriendt 1998 |
Patient IV-6 in original published report. Mutation incorrectly called G75 in abstract |
M |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Optic disc excavation-unilateral; Optic pit; Cilioretinal vessels-bilateral; abnormal retinal vessels; maculopathy; bilateral renal hypoplasia; 33y-end stage renal disease |
1 |
1 |
Matthew Bower |
00315113 |
- |
PubMed: Devriendt 1998 |
Individual IV-7 in original published report. Mutation incorrectly called G75S in abstract. |
M |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Abnormal retinal vessels;Maculopathy; amblyopia; optic pit; renal failure; kidney hypoplastic cortex, hypoplastic medulla, 2-5 layers of obsolete glomeruli, cortical cysts, atrophic tubules, hypertrophic tubules; 22y-end stage renal disease |
1 |
1 |
Matthew Bower |
00315114 |
- |
PubMed: Devriendt 1998 |
Individual V:2 in original published report. Mutation incorrectly called G75S in abstract. |
F |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Optic disc dysplasia-bilateral; Decreased renal function, proteinuria |
1 |
1 |
Matthew Bower |
00315115 |
- |
PubMed: Amiel 2000 |
Family MA patient 1 in original published report. Child of Family 49; patient 2. |
- |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Optic nerve coloboma-bilateral; myopia; Renal agenesis-unilateral |
1 |
1 |
Matthew Bower |
00315116 |
- |
PubMed: Amiel 2000 |
Family MA patient 2 in original publication. Father of Family 49; patient 1. |
M |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Optic nerve coloboma-bilateral; chorioretinal coloboma; Renal insufficiency, renal hypoplasia |
1 |
1 |
Matthew Bower |
00315117 |
- |
PubMed: Cheong 2007 |
De novo with normal parental sequencing. Patient 6 in original published report. |
M |
- |
Korea |
- |
- |
- |
- |
- |
kidney disease |
Optic nerve coloboma-bilateral; nystagmus; renal hypoplasia-bilateral, increased parenchymal echogenicity by ultrasound, cystic lesion in one kidney, normal VCUG; 10y-end stage renal disease; 10y-renal transplant |
1 |
1 |
Matthew Bower |
00315118 |
- |
PubMed: Samimi 2008 |
Age at renal failure not specified. |
M |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Excavation of optic disc-unilateral; Morning glory anomaly-unilateral; Macular detachment-bilateral; Renal hypoplasia-bilateral, vesicoureteral reflux-bilateral |
1 |
1 |
Matthew Bower |
00315119 |
- |
PubMed: Schimmenti 2003 |
Individual 1583 in original published report. Two siblings died of renal failure but not evaluated. |
F |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Hearing loss; Optic nerve atrophy; Retinal pigment epithelium thinning; abnormal retinal vessels; Nephritis; 60y-renal transplant |
1 |
1 |
Matthew Bower |
00315120 |
- |
PubMed: Schimmenti 2003 |
Individual 1584 in original published report. Daughter of family 53; patient 1. Mother of family 53; patient 3. |
F |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
high frequency hearing loss; Optic disc dysgenesis; enlarged optic disc; excavated optic disc; abnormal retinal vessels; Nephritis; kidney chronic tubular interstitial disease.; 25y-renal transplant |
1 |
1 |
Matthew Bower |
00315121 |
- |
PubMed: Schimmenti 2003 |
Patient 1585 in original published report. Son of family 53; patient 2. |
M |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Optic nerve dysplasia-bilateral; nystagmus; enlarged optic disc; gliotic material in optic disc; nystagmus; Normal renal function at age 3; Tourette syndrome |
1 |
1 |
Matthew Bower |
00315122 |
- |
PubMed: Miyazawa 2009 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Optic nerve coloboma-bilateral; Proteinuria, renal failure; developmental delay; prenatal glomerular enlargement; collapse of glomerular capillaries; mesangial matrix expansion, tubulointerstitial change; 12y-end stage renal disease |
1 |
1 |
Matthew Bower |
00315123 |
- |
PubMed: Martinovic-Bouriel 2010 |
Patient 1 in original published report. Fetal autopsy case. De novo with normal parental sequencing. |
F |
- |
- |
- |
- |
- |
- |
- |
? |
brachymesophalangia of 5th fingers.; Optic nerve coloboma-bilateral; Hypoplastic right kidney, hypoplastic cystic left kidney.; kidney oligomeganephronia, absent corticomedullary differentiation, parenchymal cysts, ; prenatal suspected bilateral renal agenesis by 2nd trimester ultrasound, anhydramnios |
1 |
1 |
Matthew Bower |
00315124 |
- |
PubMed: Weber 2006 |
Patient VIL8 in original published report. Father has end stage renal disease and optic nerve coloboma. |
F |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Optic disc hypoplasia-bilateral; multicystic dysplastic kidneys |
1 |
1 |
Matthew Bower |
00315125 |
- |
PubMed: Sellick 2004 |
Individual III-2 in original report. Methods paper with limited clinical data. |
M |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
renal dysplasia |
1 |
1 |
Matthew Bower |
00315126 |
- |
PubMed: Sellick 2004 |
Individual III-5 in original report. Methods paper with limited clinical data. |
M |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
- |
1 |
1 |
Matthew Bower |
00315127 |
- |
PubMed: Sellick 2004 |
Individual III-6 in original report. Methods paper with limited clinical data. |
M |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
renal dysplasia |
1 |
1 |
Matthew Bower |
00315128 |
- |
PubMed: Selick 2004 |
Individual III-8 in original report. Methods paper with limited clinical data. |
M |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
renal dysplasia |
1 |
1 |
Matthew Bower |
00315129 |
- |
PubMed: Sellick 2004 |
Individual IV-1 in original report. Methods paper with limited clinical data. |
F |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
renal dysplasia |
1 |
1 |
Matthew Bower |
00315130 |
- |
PubMed: Sellick 2004 |
Individual IV-2 in original report. Methods paper with limited clinical data. |
M |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
renal dysplasia |
1 |
1 |
Matthew Bower |
00315131 |
- |
PubMed: Selick 2004 |
Individual IV-6 in original publication. Methods paper with limited clinical data |
M |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
renal dysplasia |
1 |
1 |
Matthew Bower |
00315132 |
- |
PubMed: Sellick 2004 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
renal dysplasia |
1 |
1 |
Matthew Bower |
00315133 |
- |
PubMed: Thomas 2010 |
Parents unavailable for analysis, but reported to be asymptomatic. |
- |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Bilateral optic disc excavation; renal hypoplasia, renal failure; kidney renal hypoplastic oligomeganephronia |
1 |
1 |
Matthew Bower |
00315134 |
- |
PubMed: Thomas 2011 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
renal hypodysplasia |
1 |
1 |
Matthew Bower |
00315135 |
- |
PubMed: Sanyanusin 1995 |
patient 1 in original published report. Son of family 65; patient 4. |
M |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Short stature. 46,XY karyotype.; Optic nerve coloboma-bilateral; myopia; strabismus; nystagmus; Vesicoureteral reflux-bilateral, renal hypoplasia-bilateral; 15y-end stage renal disease |
1 |
1 |
Matthew Bower |
00315136 |
- |
PubMed: Sanyanusin 1995 |
Patient 2 in original published report. |
M |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Optic nerve coloboma-bilateral; Vesicoureteral reflux-bilateral, renal hypoplasia-bilateral, poor corticomedullary differentiation |
1 |
1 |
Matthew Bower |
00315137 |
- |
PubMed: Sanyanusin 1995 |
patient 3 in original published report |
M |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
short stature; optic nerve coloboma-bilateral; enlarged optic disc-bilateral; renal hypoplasia-bilateral, echogenic kidneys, Poor corticomedullary differentiation, vesicoureteral reflux; 32w-pre-term delivery; 1y-renal transplant |
1 |
1 |
Matthew Bower |
00315138 |
- |
PubMed: Sanyanusin 1995 |
Patient 4 in original published report. Father of family 65; patients 1,2,3 |
M |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Optic nerve coloboma-bilateral; Normal renal ultrasound, mild renal insufficiency |
1 |
1 |
Matthew Bower |
00315139 |
- |
PubMed: Porteous 2000, PubMed: Porteous 2001 |
Individual I-1 in both original published reports. |
M |
- |
Brazil |
- |
- |
- |
- |
- |
kidney disease |
Hearing loss-unilateral; Excavation of optic disc-unilateral; optic nerve coloboma-unilateral; Elevated serum creatinine, normal renal ultrasound |
1 |
1 |
Matthew Bower |
00315140 |
- |
PubMed: Porteous 2000, PubMed: Porteous 2001 |
Individual II-5 in 2000 publication; individual II-4 in 2001 publication. |
M |
- |
Brazil |
- |
- |
- |
- |
- |
kidney disease |
Optic nerve coloboma-bilateral; peripalliary choroiditis; Renal hypoplasia-bilateral, Echogenic cortices |
1 |
1 |
Matthew Bower |
00315141 |
- |
PubMed: Porteous 2000, PubMed: Porteous 2001 |
Individual II-6 in 2001 publication; individual II-7 in 2000 publication. |
F |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Optic nerve coloboma-bilateral; Normal renal ultrasound, normal renal function |
1 |
1 |
Matthew Bower |
00315142 |
- |
PubMed: Porteous 2000, PubMed: Porteous 2001 |
Individual II-8 in 2001 publication; individual II-9 in 2000 publication. |
M |
- |
Brazil |
- |
- |
- |
- |
- |
kidney disease |
Optic nerve coloboma-bilateral; Nephrolithiasis-bilateral, single functioning kidney |
1 |
1 |
Matthew Bower |
00315143 |
- |
PubMed: Porteous 2000, PubMed: Porteous 2001 |
Individual III-9 in both original published reports. |
M |
- |
- |
- |
- |
- |
- |
- |
kidney disease |
Optic disc dysplasia-bilateral; altered origin of papillary vessels.; Normal renal ultrasound, normal renal function |
1 |
1 |
Matthew Bower |
00315144 |
- |
PubMed: Porteous 2000, PubMed: Porteous 2001 |
Individual III-11 in both published reports. |
M |
- |
Brazil |
- |
- |
- |
- |
- |
kidney disease |
Profound bilateral excavation of the optic nerve; Normal renal ultrasound, normal renal function |
1 |
1 |
Matthew Bower |
00315145 |
- |
PubMed: Porteous 2000, PubMed: Porteous 2001 |
Individual III-13 in both published reports. |
F |
- |
Brazil |
- |
- |
- |
- |
- |
kidney disease |
Horizontal nystagmus; hypoplastic colobomatous optic papillae; hyperpigmented macula; rarefied RPE; Bilateral renal atrophy, cystic kidneys, cortical hyperechogenicity, no medullary differentiation. |
1 |
1 |
Matthew Bower |
00315146 |
- |
PubMed: Porteous 2000, PubMed: Porteous 2001 |
Individual III-16 in both published reports. |
M |
- |
Brazil |
- |
- |
- |
- |
- |
kidney disease |
Bilateral optic nerve pits; abundant fibroglial tissue.; vesicoureteral reflux |
1 |
1 |
Matthew Bower |
00315147 |
- |
PubMed: Porteous 2000, PubMed: Porteous 2001 |
Individual III-17 in both published reports. |
M |
- |
Brazil |
- |
- |
- |
- |
- |
kidney disease |
Optic nerve coloboma-bilateral; retinal detachment; rarefied RPE; Renal hypoplasia-bilateral, echogenic cortices, ; 7y-end stage renal disease; 7y-renal transplant |
1 |
1 |
Matthew Bower |
00315148 |
- |
PubMed: Nishimoto 2001 |
Patient 2 in original published report. |
F |
- |
Japan |
- |
- |
- |
- |
- |
kidney disease |
Optic disc hypoplasia-unilateral; bilateral renal hypoplasia |
1 |
1 |
Matthew Bower |
00315149 |
- |
PubMed: Nishimoto 2001 |
Patient 1 in original published report |
M |
- |
Japan |
- |
- |
- |
- |
- |
kidney disease |
no eye anomalies; Renal hypoplasia-bilateral, Vesicoureteral reflux-bilateral; 7y-end stage renal disease |
1 |
1 |
Matthew Bower |