banner
Genes Phenotypes Help, News, Blog

Gene: Kirrel1 MGI:1891396

Log in to follow

Gene Summary

Name:
kirre like nephrin family adhesion molecule 1
Synonyms:
Kirrel1,  Kirrel,  6720469N11Rik,  Neph1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Kirrel1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal retina vasculature morphology Kirrel1em1(IMPC)Mbp HET   Early adult 1.84×10-05
abnormal retina blood vessel morphology Kirrel1em1(IMPC)Mbp HET Early adult 2.83×10-05
abnormal placenta morphology Kirrel1em1(IMPC)Mbp HOM E15.5 0.00
microphthalmia Kirrel1em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Kirrel1em1(IMPC)Mbp HET E15.5 0.00
microphthalmia Kirrel1em1(IMPC)Mbp HET E15.5 0.00
eye hemorrhage Kirrel1em1(IMPC)Mbp HET   Early adult 1.64×10-05
embryonic growth retardation Kirrel1em1(IMPC)Mbp HOM E15.5 0.00
persistence of hyaloid vascular system Kirrel1em1(IMPC)Mbp HET Early adult 1.07×10-05
embryonic growth retardation Kirrel1em1(IMPC)Mbp HET E15.5 0.00
abnormal placenta vasculature Kirrel1em1(IMPC)Mbp HET E15.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Gross Morphology Embryo E14.5-E15.5

Images

12 Images

View images
Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

View images

Human diseases caused by Kirrel1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Kirrel1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201

The table below shows human diseases predicted to be associated to Kirrel1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... OMIM:618594
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... OMIM:256370
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616892
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... OMIM:610725
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency OMIM:249660
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... OMIM:613237
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... OMIM:617609
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... OMIM:614131
Nephrotic Syndrome, Type 8
Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Protei... OMIM:615244
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Hematuria, Benign Familial, 2
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria OMIM:620320
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Nail-Patella-Like Renal Disease
Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria ORPHA:2613
Retinopathy Of Prematurity
Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachment, Vitreo... ORPHA:90050
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria OMIM:161900
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:615573
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic... OMIM:619263
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... ORPHA:656
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:616730
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:600995
Galloway-Mowat Syndrome 10
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... OMIM:619609
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... OMIM:620536
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Exudative Vitreoretinopathy 4
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Retinal Capillary Malformation
Retinal exudate, Retinal capillary hemangioma, Subretinal exudate, Hyphema, Epiretinal membrane, ... ORPHA:71213
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... ORPHA:567548
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... OMIM:617730
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis, Glo... OMIM:256300
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:161950
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Reni Syndrome
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617575
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614196
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu... OMIM:614377
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:618348
Eales Disease
Epistaxis, Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epir... ORPHA:40923
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Podocyte foot process effacement OMIM:617006
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Retinal Arteries, Tortuosity Of
Retinal arteriolar tortuosity, Retinal hemorrhage OMIM:180000
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr... ORPHA:84090
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, ... ORPHA:567544
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency OMIM:615987
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Acute kidney injury ORPHA:2134
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology ORPHA:839
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Denys-Drash Syndrome
Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma ORPHA:220
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries, Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic s... OMIM:608709
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc... OMIM:603278
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, Proteinuria, Nephr... OMIM:618349
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Galloway-Mowat Syndrome 9
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis OMIM:619603
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Proteinuria, Hematuria, Nephrotic syndrome OMIM:105200
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:136680
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:291
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ... ORPHA:329918
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch... OMIM:617731
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Bardet-Biedl Syndrome 16
Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal dysplasia OMIM:615993
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia OMIM:609054
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Hemorrhage of the eye, Tractional retinal detachme... ORPHA:91495
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:301006
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Hereditary Renal Hypouricemia
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... ORPHA:94088
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Neonatal death OMIM:614870
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Acquired Partial Lipodystrophy
Proteinuria, Glomerulopathy, Microscopic hematuria ORPHA:79087
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Proteinuria, Hematuria, Abnormal renal physiology OMIM:123550
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Mesangial hypercellularity OMIM:620425
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Renal insufficiency OMIM:245900
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microphthalmia OMIM:616570
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2668
Nanophthalmos
Microphthalmia ORPHA:35612
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency ORPHA:1909
Galloway-Mowat Syndrome 3
Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomerular sclerosis, N... OMIM:617729
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis ORPHA:3033
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst OMIM:617056
Adams-Oliver Syndrome 4
Umbilical hernia, Microphthalmia OMIM:615297
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia OMIM:615605
Imerslund-Grasbeck Syndrome 1
Proteinuria, Microscopic hematuria OMIM:261100
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... ORPHA:85445
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Uveal Melanoma
Vitreous hemorrhage, Retinal detachment, Abnormal fundus morphology ORPHA:39044
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
Alport Syndrome
Focal segmental glomerulosclerosis, Nephritis, Thickened glomerular basement membrane, Glomerular... ORPHA:63
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Hyphema, Remnants of the hyaloid vascular system, Retinal fold, Iris coloboma OMIM:221900
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal arteriolar tortuosity, Lacunar stroke, Raynaud phenomenon, Supraventricular arrhythmia, R... OMIM:611773
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Microcephaly-Microcornea Syndrome, Seemanova Type
Short stature, Growth delay, Microphthalmia ORPHA:2528
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hemolytic-ur... OMIM:612925
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Neonatal death OMIM:602199
Frasier Syndrome
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa... ORPHA:347
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... OMIM:104200
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Familial Mediterranean Fever, Autosomal Dominant
Proteinuria, Renal amyloidosis, Renal insufficiency OMIM:134610
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Anti-Glomerular Basement Membrane Disease
Proteinuria, Hematuria, Glomerulopathy, Renal insufficiency ORPHA:375
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis OMIM:618913
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedullary cyst... OMIM:603860
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis... OMIM:251300
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Thrombotic Thrombocytopenic Purpura
Hematuria, Proteinuria, Acute kidney injury, Renal insufficiency ORPHA:54057
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria OMIM:618347
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612924
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Reduced renal corticomedullary differentiation, Renal interstitial fibros... OMIM:619902
Pseudoxanthoma Elasticum
Choroidal neovascularization, Macular degeneration, Restrictive cardiomyopathy, Gastrointestinal ... OMIM:264800
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula... ORPHA:228302
Imerslund-Grasbeck Syndrome 2
Proteinuria, Moderate albuminuria, Renal insufficiency, Recurrent urinary tract infections OMIM:618882
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612926
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia OMIM:278780
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria OMIM:610205
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Cednik Syndrome
Proteinuria, Nephrotic syndrome ORPHA:66631
Biemond Syndrome Type 2
Short stature, Delayed puberty, Microphthalmia ORPHA:141333
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Death in childhood, Mild proteinuria OMIM:301108
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Nephrotic syndrome, Mucopolysacchariduria OMIM:215250
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:1192
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia OMIM:218670
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria OMIM:620010
Autoinflammatory-Pancytopenia Syndrome
Proteinuria, Membranoproliferative glomerulonephritis OMIM:619858
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias OMIM:619428
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Death in infanc... OMIM:613404
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Myh9-Related Disease
Nephropathy, Nephritis, Renal insufficiency, Proteinuria ORPHA:182050
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency OMIM:166300
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia, Neonatal death OMIM:613730
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Proteinuria, Abnormality of the ki... ORPHA:261222
Pierson Syndrome
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,... OMIM:609049
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... OMIM:618061
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Diffuse alveolar hemorrhage, Gastrointestinal hemorrhage, Melena, Hypertrophic card... ORPHA:464321
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Short stature, Intrauterine growth retardation, Microphthalmia OMIM:616171
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Neonatal death OMIM:613390
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St... OMIM:308940
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Cat-Eye Syndrome
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:195
Joubert Syndrome 20
Renal cyst OMIM:614970
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, D... OMIM:174000
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Genitopalatocardiac Syndrome
Renal cyst, Hypospadias OMIM:231060
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena... OMIM:146255
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Frontal encephalocele, Microphthalmia ORPHA:1528
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,... OMIM:263200
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Short stature, Microphthalmia OMIM:610023
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Chronic tubulo... OMIM:614376
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
Microphthalmia, Syndromic 13
Short stature, Microphthalmia OMIM:300915
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia OMIM:274270
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Cofs Syndrome
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:1466
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in childhood, Death in infancy, Hematuria, Proteinuria, Tubulointerstitial nephritis OMIM:616901
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag... OMIM:301050
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Nephronophthisis 9
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts OMIM:613824
Mmep Syndrome
Microphthalmia ORPHA:3434
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle branch block, Hemoth... ORPHA:99827
Preeclampsia
Chronic kidney disease, Acute kidney injury, Renal insufficiency, Proteinuria, Abnormality of the... ORPHA:275555
Nephronophthisis 1
Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal... OMIM:256100
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria OMIM:616026
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis OMIM:102700
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts, Stillbirth OMIM:263630
Pauci-Immune Glomerulonephritis
Acute kidney injury, Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Glom... ORPHA:93126
Idiopathic Aplastic Anemia
Retinal hemorrhage, Epistaxis, Gingival bleeding, Ecchymosis ORPHA:88
Phacoanaphylactic Uveitis
Macular edema, Vitreoretinopathy, Hyphema, Tractional retinal detachment, Cystoid macular edema, ... ORPHA:209959
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Proteinuria, Glomerular sclerosis, Abnormal renal medu... ORPHA:439232
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Proteinuria, Glomerular sclerosis, Recurrent myoglobinuria, N... OMIM:607426
Retinoblastoma
Hyphema, Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation, Retinobla... ORPHA:790
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Hartsfield Syndrome
Intrauterine growth retardation, Encephalocele, Microphthalmia ORPHA:2117
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia ORPHA:324416
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal cyst, Stillbirth, Renal dysplasia OMIM:236500
2Q24 Microdeletion Syndrome
Growth delay, Microphthalmia ORPHA:1617
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
Hyperparathyroidism 2 With Jaw Tumors
Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney dysplasia, Ren... OMIM:145001
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Proteinuria, Hematuria ORPHA:1765
Microphthalmia/Coloboma 12
Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... OMIM:120200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cyst, Renal cell carcinoma OMIM:135150
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis OMIM:620374
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Subconjunctival hemorrhage, Ep... ORPHA:464329
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... ORPHA:276621
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Abnormality of the kidney ORPHA:369
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Glomerulopathy... OMIM:254900
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... OMIM:300554
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Recurren... ORPHA:368
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis OMIM:260000
Leptospirosis
Hypotension, Pulmonary hemorrhage, Macular cotton wool spot, Chorioretinitis, Optic neuritis, Pap... ORPHA:509
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria ORPHA:100024
Nephronophthisis 4
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... OMIM:606966
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Axial Osteomalacia
Renal cyst OMIM:109130
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Glycogen Storage Disease V
Myoglobinuria, Dark urine OMIM:232600
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Joubert Syndrome 7
Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611560
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal exudate, Macular edema, Gastrointestinal hemorrhage, Punctate vasculitis skin lesions, Te... OMIM:192315
Lujo Hemorrhagic Fever
Hypotension, Shock, Excessive bleeding after a venipuncture, Ecchymosis, Bradycardia, Myocarditis... ORPHA:319213
Retinoblastoma
Vitreous hemorrhage, Retinal calcification, Retinoblastoma, Vitritis OMIM:180200
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Petechiae, Ecchymosis, H... ORPHA:340
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Anophthalmia, Microphthalmia OMIM:164180
Joubert Syndrome 22
Intrauterine growth retardation, Microphthalmia OMIM:615665
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Neonatal death, Renal cyst, Stillb... OMIM:614922
Joubert Syndrome 18
Horseshoe kidney, Renal cyst OMIM:614815
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy... OMIM:231680
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Pseudo-Torch Syndrome 3
Proteinuria, Acute kidney injury, Death in infancy OMIM:618886
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Senior-Loken Syndrome 8
Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidney diseas... OMIM:616307
Cystinosis
Nephropathy, Aminoaciduria, Renal insufficiency, Renal tubular dysfunction, Proteinuria ORPHA:213
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias OMIM:605231
Free Sialic Acid Storage Disease
Proteinuria, Nephrotic syndrome ORPHA:834
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec... ORPHA:3337
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Macular degeneration, Angioid streaks of the fundus, Angina pectoris... OMIM:177850
Galactosemia I
Aminoaciduria, Galactosuria, Albuminuria, Increased level of galactitol in urine OMIM:230400
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hyperechogenic kidneys, Proteinuria, Polyuria, Renal salt wasting OMIM:613845
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:48431
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Decreased glomerular filtration rate, Re... ORPHA:85450
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Death in childhood, Hyperphosphaturia, Renal tubular dysfunction, Prot... OMIM:220110
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Renal insufficiency OMIM:300653
Meckel Syndrome, Type 2
Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningocele, Anencephaly OMIM:603194
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Cryoglobulinemic Vasculitis
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:91138
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Microphthalmia OMIM:613885
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Renal Hypodysplasia/Aplasia 1
Proteinuria, Bilateral renal agenesis, Renal dysplasia OMIM:191830
Mitochondrial Trifunctional Protein Deficiency 2
Myoglobinuria, Recurrent myoglobinuria, Death in infancy, Neonatal death OMIM:620300
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Short stature, Microphthalmia OMIM:251270
Fetal Cytomegalovirus Syndrome
Retinal hemorrhage, Optic atrophy, Petechiae, Chorioretinitis ORPHA:294
Congenital Toxoplasmosis
Intrauterine growth retardation, Microphthalmia ORPHA:858
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, St... ORPHA:567546
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... ORPHA:29072
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria ORPHA:251004
Neuraminidase Deficiency
Proteinuria, Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosacch... OMIM:256550
Hypomagnesemia 3, Renal
Chronic kidney disease, Hematuria, Macroscopic hematuria, Sterile pyuria, Renal magnesium wasting... OMIM:248250
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the... ORPHA:2970
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage, Subdural hemorrhage OMIM:615368
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Myoglobinuria, Renal tubular epithelial necrosis... ORPHA:157
Becker Muscular Dystrophy
Myoglobinuria, Abnormal urinary color ORPHA:98895
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Glycosuria,... ORPHA:411634
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... ORPHA:436271
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic ... OMIM:613095
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232200
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Hyperphosphaturia, Re... OMIM:227810
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Lissencephaly 8
Occipital encephalocele, Microphthalmia OMIM:617255
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 chron... ORPHA:1830
Heme Oxygenase 1 Deficiency
Hematuria, Nephritis, Proteinuria OMIM:614034
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short stature, Intrauterine growth retardation, Rhizomelia, Microphthalmia OMIM:300863
Cerebrooculofacioskeletal Syndrome 2
Intrauterine growth retardation, Growth delay, Microphthalmia OMIM:610756
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Severe Oculo-Renal-Cerebellar Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2715
Warburg Micro Syndrome 1
Short stature, Microphthalmia OMIM:600118
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Abnormal urinary color ORPHA:90035
Congenital Rubella Syndrome
Short stature, Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Wild Type Attr Amyloidosis
Nephropathy, Nephrotic syndrome, Renal insufficiency, Proteinuria ORPHA:330001
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep... ORPHA:488627
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Distal Limb Deficiencies-Micrognathia Syndrome
Proteinuria, Renal hypoplasia, Renal insufficiency ORPHA:1307
Pierpont Syndrome
Short stature, Microphthalmia OMIM:602342
Senior-Loken Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis OMIM:606995
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly, Microphthalmia OMIM:611561
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Exercise-induced myoglobinuria, Dark urine, Renal insufficiency, R... ORPHA:99845
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningocele, Anencephaly OMIM:611134
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Microscopic hematuria, Hemolytic-uremic syndrome, Abnormal renal physiology OMIM:274150
Oculogastrointestinal Neurodevelopmental Syndrome
Short stature, Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Elevated urinary norepinephrine level OMIM:171420
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Hypocomplementemic Urticarial Vasculitis
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:36412
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst... ORPHA:33001
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis, Hematochezia, Subconjunctival hemorrhage, Vasculitis in the skin OMIM:617718
Atelis Syndrome 2
Pulmonic stenosis, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Remnants of the hyaloid v... OMIM:620185
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Proteinuria, Nephrotic syndrome, Renal tubular atr... OMIM:617303
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Recurrent urinary tract infections, Hyperechogenic kidney... OMIM:619487
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Exces... ORPHA:99826
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Dicarboxylic aciduria, Renal insufficiency, Myoglobinuria, Renal tubular epithel... ORPHA:228308
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria ORPHA:57
Pediatric Systemic Lupus Erythematosus
Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency, Hematuria, Protein... ORPHA:93552
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis skin lesions, Tel... ORPHA:247691
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Papa Syndrome
Proteinuria ORPHA:69126
Simple Cryoglobulinemia
Nephritis, Renal insufficiency, Mesangial hypercellularity, Proteinuria, Membranoproliferative gl... ORPHA:91139
Pierpont Syndrome
Microphthalmia ORPHA:487825
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi... ORPHA:47159
Meckel Syndrome, Type 10
Micropenis, Renal cyst, Hypospadias OMIM:614175
Juvenile Xanthogranuloma
Hyphema ORPHA:158000
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... OMIM:242900
Developmental And Epileptic Encephalopathy 1
Growth delay, Microphthalmia OMIM:308350
Seckel Syndrome 2
Short stature, Growth delay, Microphthalmia OMIM:606744
Linear Skin Defects With Multiple Congenital Anomalies 2
Short stature, Microphthalmia OMIM:300887
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria ORPHA:284426
Bresek Syndrome
Intrauterine growth retardation, Optic nerve hypoplasia, Growth delay, Microphthalmia ORPHA:85284
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Arima Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... OMIM:243910
Verheij Syndrome
Renal cyst, Renal hypoplasia, Renal agenesis OMIM:615583
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Optic nerve hypoplasia, Mild short stature, Microphthalmia OMIM:614833
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232220
Bardet-Biedl Syndrome 17
Micropenis, Renal cyst, Stage 5 chronic kidney disease, Polyuria OMIM:615994
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Majeed Syndrome
Proteinuria, Glomerulopathy, Microscopic hematuria ORPHA:77297
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1438
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy ORPHA:86818
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormality of the ureter, Renal hypoplasia/aplasia, Hydroneph... ORPHA:1834
Baraitser-Winter Syndrome 2
Short stature, Microphthalmia OMIM:614583
3-Methylglutaconic Aciduria Type 7
Renal cyst, Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria ORPHA:445038
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Bruising susceptibility, Angioid streaks... ORPHA:758
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria ORPHA:90060
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Microphthalmia ORPHA:93267
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Tricuspid regurgitation, Retinal arterial tortuosity, Vitreous hemorrhage, Retinal detachment, Ce... OMIM:620371
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Displacement of the urethr... ORPHA:2973
Femoral-Facial Syndrome
Abnormal localization of kidney, Long penis, Polycystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:1988
Galloway-Mowat Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:2065
Familial Adenomatous Polyposis 4
Renal cyst, Ovarian cyst OMIM:617100
Fabry Disease
Proteinuria, Urinary mulberry cells, Lipiduria, Renal insufficiency OMIM:301500
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:613550
Pelvis-Shoulder Dysplasia
Short stature, Spina bifida occulta, Microphthalmia OMIM:169550
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short stature, Intrauterine growth retardation, Rhizomelia, Microphthalmia ORPHA:163966
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Death in childhood, Mild proteinuria OMIM:619685
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic cysts, Enlarged kidney, Cystic renal dysplasia, Stillbirth OMIM:615415
Frontonasal Dysplasia 1
Cranium bifidum occultum, Anterior basal encephalocele, Microphthalmia OMIM:136760
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Moderate proteinuria, Proteinuria, Hyperechogenic kidneys, Hemolytic-uremic syndrome OMIM:301110
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Palpitations, Abnormal bleeding ORPHA:86839
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Congenital Disorder Of Glycosylation, Type Ib
Renal cyst, Proximal tubulopathy OMIM:602579
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Renal Fanconi syndrome, Glycosuria ORPHA:263455
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria OMIM:615398
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Death in childhood, Mild proteinuria OMIM:619147
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia ORPHA:2031
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Microcephaly 20, Primary, Autosomal Recessive
Short stature, Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia OMIM:617914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Spondylo-Ocular Syndrome
Short stature, Disproportionate short-trunk short stature, Aplasia/Hypoplasia of the lens, Microp... ORPHA:85194
Congenital Primary Aphakia
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... ORPHA:83461
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... ORPHA:449395
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Temtamy Syndrome
Microphthalmia ORPHA:1777
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Methylmalonic aciduria, Cystathioninuria, Renal... OMIM:277400
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve... OMIM:301111
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Intrauterine growth retardation, Encephalocele, Microphthalmia ORPHA:228390
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, He... OMIM:232240
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Nail-Patella Syndrome
Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome OMIM:161200
Osteoporosis-Pseudoglioma Syndrome
Short stature, Microphthalmia ORPHA:2788
Rodrigues Blindness
Short stature, Microphthalmia OMIM:268320
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Microphthalmia OMIM:601794
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Eosinophilic Granulomatosis With Polyangiitis
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Tubulointerstitial nephritis ORPHA:183
Lymphatic Filariasis
Urethral obstruction, Hematuria, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Neph... ORPHA:2035
Ohdo Syndrome
Proteinuria OMIM:249620
Mayer-Rokitansky-Kuster-Hauser Syndrome
Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,... OMIM:277000
Pheochromocytoma
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Waldenström Macroglobulinemia
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, ... ORPHA:33226
Al Amyloidosis
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Abnormality of the kidney,... ORPHA:85443
Microphthalmia, Syndromic 5
Short stature, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Mody
Nephropathy, Renal cyst, Glycosuria, Abnormality of the kidney ORPHA:552
Malakoplakia
Urinary bladder inflammation, Urinary hesitancy, Hematuria, Proteinuria, Dysuria, Urinary urgency ORPHA:556
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Umbilical hernia, Microphthalmia OMIM:618914
Congenital Bile Acid Synthesis Defect Type 2
Renal cyst, Dark urine ORPHA:79303
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst OMIM:614091
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Multiple bladder diverticula ORPHA:2728
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... ORPHA:2334
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu... OMIM:602522
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal insufficiency, Death in infancy, Proteinuria, Renal cyst OMIM:208500
Legionnaires Disease
Hematuria, Proteinuria, Renal insufficiency ORPHA:549
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys... ORPHA:411629
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia OMIM:220500
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Death in infancy, Dicarboxylic aciduria OMIM:201475
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Death in childhood, Death in infancy, Proteinuria, Renal cyst, Nephrotic sy... OMIM:212065
Fliedner-Zweier Syndrome
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia OMIM:620511
Renal Nutcracker Syndrome
Hematuria, Proteinuria, Renal artery stenosis, Microscopic hematuria ORPHA:71273
Matthew-Wood Syndrome
Intrauterine growth retardation, Anophthalmia, Microphthalmia ORPHA:2470
Subaortic Stenosis-Short Stature Syndrome
Short stature, Microphthalmia ORPHA:3191
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Trisomy 13
Aplasia/Hypoplasia of the iris, Intrauterine growth retardation, Anophthalmia, Microphthalmia ORPHA:3378
Cystic Echinococcosis
Renal cyst, Membranous nephropathy, Hepatic cysts, Ovarian cyst ORPHA:400
Xfe Progeroid Syndrome
Proteinuria, Death in adolescence, Renal insufficiency OMIM:610965
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Medullary... OMIM:219800
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Proteinuria ORPHA:1018
Peroxisome Biogenesis Disorder 1B
Renal cyst, Hyperoxaluria OMIM:601539
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico... OMIM:113650
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:618804
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath... OMIM:600740
Rift Valley Fever
Gingival bleeding, Macular edema, Abnormal bleeding, Retinal vasculitis, Retinitis, Hematemesis, ... ORPHA:319251
Glycogen Storage Disease Vii
Hematuria, Exercise-induced myoglobinuria OMIM:232800
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst ORPHA:488618
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff... ORPHA:93111
Meckel Syndrome, Type 7
Pancreatic cysts, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Multiple glomerul... OMIM:267010
Meckel Syndrome, Type 6
Horseshoe kidney, Renal cyst, Hepatic cysts, Aplasia of the bladder OMIM:612284
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria OMIM:620138
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Msh3-Related Attenuated Familial Adenomatous Polyposis
Renal cyst, Ovarian dermoid cyst ORPHA:480536
Hydrolethalus
Anencephaly, Anophthalmia, Microphthalmia ORPHA:2189
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... ORPHA:158684
Sympathetic Ophthalmia
Macular edema, Vitreous floaters, Papilledema, Retinal detachment, Retinal hemorrhage, Depigmente... ORPHA:79098
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Systemic Sclerosis
Chronic kidney disease, Acute kidney injury, Renal insufficiency, Proteinuria, Glomerulonephritis... ORPHA:90291
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Lacticaciduria, Polycystic kidney dysplasia, Ethylm... ORPHA:26791
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia OMIM:610256
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Red-brown urine ORPHA:228305
Rere-Related Neurodevelopmental Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia ORPHA:494344
Campomelia, Cumming Type
Multicystic kidney dysplasia, Pancreatic cysts, Multiple renal cysts ORPHA:1318
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Fetal Alcohol Syndrome
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:1915
Trisomy 17P
Hydronephrosis, Hypoplasia of penis, Urethral valve, Polycystic kidney dysplasia, Urethral stenosis ORPHA:261290
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia OMIM:608022
Lysinuric Protein Intolerance
Renal fibrosis, Hyperlysinuria, Renal amyloidosis, Oroticaciduria, Decreased glomerular filtratio... ORPHA:470
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Renal cyst ORPHA:166035
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Solitary Median Maxillary Central Incisor
Short stature, Anophthalmia, Microphthalmia OMIM:147250
Renal-Hepatic-Pancreatic Dysplasia 1
Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Ureteral atr... OMIM:208540
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, Pr... OMIM:614748
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Abnormality of the ureter, Multiple renal cysts, Renal cell carcinoma ORPHA:2869
Joubert Syndrome 37
Short stature, Microphthalmia OMIM:619185
Trichothiodystrophy 3, Photosensitive
Short stature, Intrauterine growth retardation, Microphthalmia OMIM:616395
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormality of ... ORPHA:314588
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Myoglobinuria, Ketonuria, 3-Methylglutaconic aciduria OMIM:251900
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Nail-Patella Syndrome
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic... ORPHA:2614
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Fanconi Anemia, Complementation Group I
Short stature, Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia OMIM:609053
Martin-Probst Syndrome
Proteinuria, Chordee, Renal insufficiency, Micropenis OMIM:300519
Donnai-Barrow Syndrome
Proteinuria, Non-acidotic proximal tubulopathy OMIM:222448
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Frontofacionasal Dysplasia
Short stature, Encephalocele, Microphthalmia ORPHA:1791
Multiple Benign Circumferential Skin Creases On Limbs
Short stature, Umbilical hernia, Microphthalmia ORPHA:2505
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Heavy proteinuria, Prote... ORPHA:505248
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia OMIM:608776
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Hydronephrosis, Ectopic... ORPHA:887
Monosomy 18P
Short stature, Microphthalmia ORPHA:1598
Cornelia De Lange Syndrome 1
Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflux, Proteinu... OMIM:122470
Garg-Mishra Progeroid Syndrome
Short stature, Postnatal growth retardation, Microphthalmia OMIM:620601
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Anophthalmia, Microphthalmia ORPHA:77298
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Occipital encephalocele, Microphthalmia ORPHA:370959
Wagro Syndrome
Proteinuria, Nephroblastoma OMIM:612469
Baraitser-Winter Syndrome 1
Short stature, Postnatal growth retardation, Microphthalmia OMIM:243310
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Kleefstra Syndrome
Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Renal cyst, Micropenis, Hypoplasia of... ORPHA:261494
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Gracile Bone Dysplasia
Short stature, Aniridia, Microphthalmia OMIM:602361
Fanconi Anemia, Complementation Group S
Short stature, Microphthalmia OMIM:617883
Hellp Syndrome
Hemoglobinuria, Proteinuria, Acute kidney injury ORPHA:244242
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Hydronephrosis, Albuminuria, Hypospadias, Renal cortical microcysts OMIM:214100
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Joubert Syndrome 14
Renal cyst OMIM:614424
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Melas
Nephropathy, Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy ORPHA:550
Fanconi Anemia, Complementation Group R
Growth delay, Microphthalmia OMIM:617244
Immunoglobulin A Vasculitis
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:761
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Renal insufficiency, Hydronephrosis, Long-chain dicarboxylic aciduria, Ureteral ... OMIM:608836
Trisomy 1Q
Congenital megaureter, Multicystic kidney dysplasia, Hydronephrosis ORPHA:261344
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypop... OMIM:614643
Osteootohepatoenteric Syndrome
Grade II vesicoureteral reflux, Proteinuria OMIM:619377
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short stature, Bilateral microphthalmos, Umbilical hernia ORPHA:369891
Spondyloenchondrodysplasia
Chronic kidney disease, Hematuria, Proteinuria ORPHA:1855
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Hydroureter, Urinary retention, Ureterocele, Recurrent urinary trac... ORPHA:79404
Mosaic Trisomy 1
Micropenis, Renal cyst, Renal cortical cysts, Penile hypospadias ORPHA:1692
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria OMIM:607155
Warburg Micro Syndrome 4
Short stature, Severe postnatal growth retardation, Microphthalmia OMIM:615663
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Renal cyst OMIM:250410
Goodpasture Syndrome
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein... OMIM:233450
Microphthalmia With Limb Anomalies
Postnatal growth retardation, Growth delay, Anophthalmia, Microphthalmia OMIM:206920
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Postnatal growth retardation, Severe intrauterine growth retardation, Microphthalmia OMIM:241410
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2075
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1352
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Branchio-Oculo-Facial Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis ORPHA:1297
Joubert Syndrome 2
Renal cyst, Nephronophthisis, Renal insufficiency OMIM:608091
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Polycystic kidney dysplasia OMIM:214110
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Gitelman Syndrome
Focal segmental glomerulosclerosis, Enuresis, Renal tubular acidosis, Proteinuria, Decreased urin... ORPHA:358
Tubulointerstitial Nephritis And Uveitis Syndrome
Chorioretinal scar, Choroidal neovascularization, Macular edema, Abnormality of retinal pigmentat... ORPHA:91500
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Short stature, Microphthalmia OMIM:617306
Marden-Walker Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia OMIM:248700
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... ORPHA:99880
Micro Syndrome
Short stature, Intrauterine growth retardation, Delayed puberty, Microphthalmia ORPHA:2510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia OMIM:615249
Pallister-Hall Syndrome
Renal hypoplasia, Hydroureter, Distal urethral duplication, Neonatal death, Hydronephrosis, Renal... OMIM:146510
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Nephroblastoma, Renal cyst, Micropenis, Hypospadias OMIM:257300
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Acute kidney injury, Glycosuria, Renal insufficiency, Proteinuria, Renal ... ORPHA:447
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Nasopalpebral Lipoma-Coloboma Syndrome
Severe postnatal growth retardation, Bilateral microphthalmos, Microphthalmia ORPHA:2399
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Parathyroid Carcinoma
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... ORPHA:143
Agel Amyloidosis
Proteinuria, Stage 5 chronic kidney disease ORPHA:85448
Cocaine Intoxication
Acute kidney injury, Hematuria, Proteinuria, Glomerulonephritis, Tubulointerstitial nephritis ORPHA:90068
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Cerebrooculofacioskeletal Syndrome 4
Short stature, Intrauterine growth retardation, Bilateral microphthalmos OMIM:610758
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria OMIM:255125
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Incontinentia Pigmenti
Congestive heart failure, Cerebral ischemia, Retinal vascular proliferation, Pulmonary arterial h... ORPHA:464
Granulomatosis With Polyangiitis
Retinal hemorrhage, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage OMIM:608710
Temtamy Syndrome
Microphthalmia OMIM:218340
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Stage 5 chronic kidney disease, Nephrolithiasis, Proteinuria, Polycystic ovarie... ORPHA:79259
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Cockayne Syndrome Type 1
Proteinuria, Renal insufficiency ORPHA:90321
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Azoospermia, Renal insufficiency, Nephrolith... ORPHA:534
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Zellweger Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypospadias ORPHA:912
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Polycystic... ORPHA:2237
Trisomy 20P
Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Abnormality of the kidney, Abnor... ORPHA:261318
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Imerslund-Gräsbeck Syndrome
Proteinuria ORPHA:35858
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Subdural hemorrhage ORPHA:25
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Mitochondrial Trifunctional Protein Deficiency 1
Myoglobinuria OMIM:609015
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia OMIM:614653
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Glandular hypospadias, Renal hypoplasia/aplasia, Urethral stricture... ORPHA:2473
Orofaciodigital Syndrome I
Hepatic cysts, Ovarian cyst, Proteinuria, Pancreatic cysts, Polycystic kidney dysplasia OMIM:311200
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Acquired Generalized Lipodystrophy
Proteinuria, Polycystic ovaries ORPHA:79086
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Renal cyst, Hypercalciuria, Congenital megau... ORPHA:369837
Moebius Syndrome
Microphthalmia OMIM:157900
Heart And Brain Malformation Syndrome
Growth delay, Microphthalmia OMIM:616920
Fabry Disease
Nephropathy, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Abnormal renal tubule m... ORPHA:324
Tyrosinemia, Type I
Nephrocalcinosis, Elevated urinary succinylacetone level, Renal insufficiency, Renal Fanconi synd... OMIM:276700
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal cyst, Renal dysplasia OMIM:617260
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria OMIM:194380
Wilson Disease
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Nephrolithiasis, Protein... OMIM:277900
Granulomatosis With Polyangiitis
Ureteral stenosis, Renal insufficiency, Hematuria, Proteinuria, Hydronephrosis, Glomerulopathy ORPHA:900
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Nephroblastoma ORPHA:1001
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Ureteral duplication OMIM:618460
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... ORPHA:2461
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Myoglobinuria, Renal tubular acidosis, Polycystic ovaries ORPHA:79240
Ectodermal Dysplasia-Blindness Syndrome
Short stature, Microphthalmia ORPHA:1806
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Incontinentia Pigmenti
Optic atrophy, Hypoplasia of the fovea, Retinal vascular proliferation, Retinal detachment, Retin... OMIM:308300
Warburg Micro Syndrome 3
Postnatal growth retardation, Microphthalmia OMIM:614222
Systemic Lupus Erythematosus
Hematuria, Proteinuria, Lupus nephritis, Pyuria ORPHA:536
Von Hippel-Lindau Syndrome
Epididymal cyst, Pancreatic cysts, Multiple renal cysts, Renal cell carcinoma OMIM:193300
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria ORPHA:71212
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Renal tubular dysfunction, Abnormality of the upper ... ORPHA:99885
Adult-Onset Still Disease
Proteinuria ORPHA:829
Structural Heart Defects And Renal Anomalies Syndrome
Renal cyst, Renal insufficiency OMIM:617478
Otodental Syndrome
Lens coloboma, Microphthalmia ORPHA:2791
Tuberous Sclerosis 2
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe... OMIM:613254
Ritscher-Schinzel Syndrome 3
Postnatal growth retardation, Microphthalmia OMIM:619135
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal cyst, Renal hypoplasia, Stillbirth OMIM:616300
Joubert Syndrome 1
Nephropathy, Renal cyst OMIM:213300
Familial Mediterranean Fever
Nephropathy, Nephrotic syndrome, Nephrocalcinosis, Proteinuria ORPHA:342
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H... ORPHA:49
Frontorhiny
Basal encephalocele, Cranium bifidum occultum, Encephalocele, Microphthalmia ORPHA:391474
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Hydronephrosis, Renal cyst OMIM:618454
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Pancreatic cysts ORPHA:2750
Vacterl With Hydrocephalus
Intrauterine growth retardation, Anophthalmia, Spina bifida, Microphthalmia ORPHA:3412
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Microphthalmia OMIM:234050
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Polycystic kidney dysplasia, Hypospadias, Renal cortical microcysts OMIM:614866
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Renal cyst, Pancreatic cysts, Polycystic kidney dysplasia OMIM:610199
Neuroleptic Malignant Syndrome
Urinary incontinence, Proteinuria, Myoglobinuria, Acute kidney injury ORPHA:94093
Postinfectious Vasculitis
Hematuria, Proteinuria, Glomerulonephritis, Membranoproliferative glomerulonephritis ORPHA:48435
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Abnormal renal physiology OMIM:223900
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Ketonuria OMIM:616878
Frontonasal Dysplasia 2
Intrauterine growth retardation, Encephalocele, Microphthalmia OMIM:613451
Bardet-Biedl Syndrome 20
Proteinuria, Micropenis OMIM:619471
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Myoglobinuria, Renal tubular acidosis, Polycystic ovaries ORPHA:264580
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria OMIM:300908
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia ORPHA:261197
Kapur-Toriello Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:244300
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Myoglobinuria ORPHA:423
Insulin-Resistance Syndrome Type B
Nephritis, Glycosuria, Polycystic ovaries, Proteinuria, Enlarged polycystic ovaries ORPHA:2298
Mosaic Trisomy 9
Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Hypoplasia of penis, Renal dysplasia ORPHA:99776
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Tuberous Sclerosis 1
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst OMIM:191100
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Micropenis, Pelvic kidney ORPHA:464311
Atelosteogenesis Type I
Multiple renal cysts ORPHA:1190
X-Linked Dominant Chondrodysplasia Punctata
Short stature, Severe postnatal growth retardation, Microphthalmia ORPHA:35173
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Thauvin-Robinet-Faivre Syndrome
Renal dysplasia, Bifid ureter, Nephroblastoma, Renal cyst, Renal malrotation OMIM:617107
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:85201
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Alveolar Echinococcosis
Abnormal bladder morphology, Renal cyst, Pancreatic cysts, Hepatic cysts ORPHA:284
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia ORPHA:3301
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Short stature, Microphthalmia OMIM:618571
Joubert Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu... OMIM:610188
Chromosome 1Q41-Q42 Deletion Syndrome
Short stature, Microphthalmia OMIM:612530
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia OMIM:613091
Microcephaly-Micromelia Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:251230
Chromosome 13Q33-Q34 Deletion Syndrome
Short stature, Anencephaly, Encephalocele, Microphthalmia OMIM:619148
Relapsing Polychondritis
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:728
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1454
Pelvis-Shoulder Dysplasia
Hydranencephaly, Bilateral microphthalmos, Mesomelic/rhizomelic limb shortening, Neonatal short-t... ORPHA:2839
Trichinellosis
Central retinal artery occlusion, Retinal hemorrhage, Abnormal optic nerve morphology ORPHA:863
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria OMIM:619269
Pearson Syndrome
Glycosuria, Renal insufficiency, Proteinuria, Renal cyst, Lacticaciduria ORPHA:699
Phelan-Mcdermid Syndrome
Vesicoureteral reflux, Polycystic kidney dysplasia, Abnormality of the kidney OMIM:606232
Fryns Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Vesicoureteral reflux, Hypospadias ORPHA:2059
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Optic atrophy, Hyphema, Retinal coloboma, Iris coloboma, Pulmonic stenosis ORPHA:261552
Tuberous Sclerosis Complex
Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Renal... ORPHA:805
Norrie Disease
Hypoplasia of the iris, Buphthalmos, Microphthalmia OMIM:310600
Warburg Micro Syndrome 2
Postnatal growth retardation, Microphthalmia OMIM:614225
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Micropenis, Pelvic kidney ORPHA:464306
Fanconi Anemia, Complementation Group F
Short stature, Intrauterine growth retardation, Microphthalmia OMIM:603467
Cockayne Syndrome Type 3
Subdural hemorrhage, Cardiomyopathy, Retinal degeneration, Retinal atrophy, Retinal hemorrhage, O... ORPHA:90324
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Nephronophthisis, Stage 5 chronic kidney disease, Reduced renal corticomedul... OMIM:266920
2P15P16.1 Microdeletion Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:261349
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia OMIM:200995
Refsum Disease
Microphthalmia ORPHA:773
Adams-Oliver Syndrome
Encephalocele, Microphthalmia ORPHA:974
Cohen Syndrome
Short stature, Intrauterine growth retardation, Delayed puberty, Microphthalmia ORPHA:193
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
15q26 overgrowth syndrome
Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro... DECIPHER:81
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia ORPHA:899
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Proteinuria OMIM:619127
Mckusick-Kaufman Syndrome
Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula OMIM:236700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Encephalocele, Microphthalmia OMIM:613150
Lymphangioleiomyomatosis
Abnormal urinary color, Hematuria, Renal angiomyolipoma, Multiple renal cysts, Renal neoplasm ORPHA:538
Xeroderma Pigmentosum, Complementation Group B
Short stature, Microphthalmia OMIM:610651
Martsolf Syndrome 1
Short stature, Microphthalmia OMIM:212720
Gaucher Disease Type 3
Hematuria, Proteinuria ORPHA:77261
Trisomy 18
Growth delay, Intrauterine growth retardation, Spina bifida, Microphthalmia, Short stature, Anenc... ORPHA:3380
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Cockayne Syndrome
Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Proteinuria, Neurogenic bladder... ORPHA:191
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Anophthalmia, Microphthalmia OMIM:615877
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Rena... ORPHA:2538
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Cockayne Syndrome B
Micropenis, Proteinuria, Renal insufficiency, Death in childhood OMIM:133540
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hemoglobinuria, Acute kidney injury, Anuria ORPHA:90038
Microphthalmia, Syndromic 3
Optic nerve aplasia, Postnatal growth retardation, Anophthalmia, Microphthalmia, Short stature, O... OMIM:206900
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Low-molecular-weight proteinuria, Stage 5 chronic kidney disease, Renal insufficie... OMIM:309000
Chondrodysplasia Punctata 2, X-Linked Dominant
Postnatal growth retardation, Rhizomelia, Microphthalmia OMIM:302960
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Subretinal pigment epithelium hemorrhage ORPHA:357074
Cat Eye Syndrome
Short stature, Umbilical hernia, Microphthalmia OMIM:115470
Oculodentodigital Dysplasia, Autosomal Recessive
Short stature, Microphthalmia OMIM:257850
1Q21.1 Microdeletion Syndrome
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:250989
Fryns Syndrome
Renal agenesis, Hydronephrosis, Renal cyst, Stillbirth, Ureteral duplication, Hypospadias OMIM:229850
D-Bifunctional Protein Deficiency
Renal cyst OMIM:261515
Holoprosencephaly
Proteinuria, Hypoplasia of penis, Abnormality of the urinary system ORPHA:2162
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Microphthalmia OMIM:253800
Focal Dermal Hypoplasia
Horseshoe kidney, Multicystic kidney dysplasia, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:2092
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Renal... OMIM:118450
Microphthalmia, Lenz Type
Short stature, Microphthalmia ORPHA:568
Trichothiodystrophy 1, Photosensitive
Short stature, Microphthalmia OMIM:601675
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele, Microphthalmia OMIM:601707
Meckel Syndrome 14
Polycystic kidney dysplasia OMIM:619879
Oculoauricular Syndrome
Spina bifida occulta, Macular hypoplasia, Phthisis bulbi, Microphthalmia, Microphakia OMIM:612109
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Cystic renal dysplasia, Neonatal death OMIM:269860
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Multiple renal cysts, Renal cell carcinoma, Epididymal cyst... ORPHA:892
Joubert Syndrome 21
Renal cyst, Hyperechogenic kidneys OMIM:615636
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Microphthalmia OMIM:610832
Cockayne Syndrome A
Micropenis, Proteinuria, Renal insufficiency OMIM:216400
Chromosome 8Q21.11 Deletion Syndrome
Growth delay, Microphthalmia OMIM:614230
Pseudotrisomy 13 Syndrome
Encephalocele, Microphthalmia OMIM:264480
Aymé-Gripp Syndrome
Proteinuria ORPHA:1272
Cousin Syndrome
Hydranencephaly, Disproportionate short stature, Rhizomelia, Microphthalmia OMIM:260660
Fanconi Anemia, Complementation Group C
Short stature, Intrauterine growth retardation, Microphthalmia OMIM:227645
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Oliguria, Anuria, Decreased urine output, Nephrotic range proteinuria ORPHA:544482
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Hajdu-Cheney Syndrome
Hypospadias, Polycystic kidney dysplasia, Renal cyst OMIM:102500
Dubowitz Syndrome
Hypoplasia of the iris, Postnatal growth retardation, Intrauterine growth retardation, Microphtha... OMIM:223370
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Reduced renal corticomedullary... ORPHA:731
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Microphthalmia, Buphthalmos, Meningoencephalocele, Optic nerve hypoplasia OMIM:236670
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short stature, Postnatal growth retardation, Rhizomelia, Microphthalmia OMIM:608940
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:364577
Williams Syndrome
Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Renal insufficiency, Vesi... ORPHA:904
Glycogen Storage Disease Xii
Hemoglobinuria OMIM:611881
Duane-Radial Ray Syndrome
Spina bifida occulta, Optic disc hypoplasia, Microphthalmia OMIM:607323
Floating-Harbor Syndrome
Hypospadias, Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Stage 5 chronic ki... ORPHA:2044
Microphthalmia, Syndromic 9
Severe short stature, Bilateral microphthalmos, Intrauterine growth retardation, Anophthalmia, Sh... OMIM:601186
Full Nf2-Related Schwannomatosis
Epiretinal membrane, Abnormal optic nerve morphology, Retinal hamartoma, Remnants of the hyaloid ... ORPHA:637
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Severe short stature, Rhizomelia, Microphthalmia ORPHA:85167
Caroli Disease
Polycystic kidney dysplasia ORPHA:53035
Histiocytoid Cardiomyopathy
Renal cyst, Polycystic ovaries ORPHA:137675
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Renal cyst, Vesicoureteral reflux, Hypospadias OMIM:616975
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Monosomy 9Q22.3
Umbilical hernia, Microphthalmia ORPHA:77301
Acrorenal-Mandibular Syndrome
Abnormality of the ureter, Polycystic kidney dysplasia, Renal agenesis, Aplasia of the bladder OMIM:200980
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micropenis, Polycystic kidney dysplasia OMIM:616546
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Short stature, Unilateral microphthalmos OMIM:618874
Hallermann-Streiff Syndrome
Proportionate short stature, Spina bifida, Microphthalmia OMIM:234100
Fanconi Anemia, Complementation Group E
Short stature, Microphthalmia OMIM:600901
Fanconi Anemia, Complementation Group L
Intrauterine growth retardation, Growth delay, Microphthalmia OMIM:614083
Smith-Lemli-Opitz Syndrome
Unilateral renal agenesis, Renal hypoplasia, Duplicated collecting system, Renal agenesis, Ureter... OMIM:270400
Holoprosencephaly-Postaxial Polydactyly Syndrome
Umbilical hernia, Encephalocele, Microphthalmia ORPHA:2166
Jacobsen Syndrome
Macular hypoplasia, Intrauterine growth retardation, Microphthalmia OMIM:147791
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Displacement of the urethral meatus ORPHA:1556
Momo Syndrome
Short stature, Bilateral microphthalmos ORPHA:2563
Fanconi Anemia, Complementation Group A
Short stature, Microphthalmia OMIM:227650
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Renal malrotation, Enlarged kidney ORPHA:500095
Cerebrocostomandibular Syndrome
Horseshoe kidney, Renal cyst, Ectopic kidney OMIM:117650
2Q31.1 Microdeletion Syndrome
Short stature, Microphthalmia ORPHA:251014
Linear Nevus Sebaceus Syndrome
Growth delay, Microphthalmia ORPHA:2612
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Mosaic Variegated Aneuploidy Syndrome
Short stature, Intrauterine growth retardation, Growth delay, Microphthalmia ORPHA:1052
Distal Deletion 12Q
Vesicoureteral reflux, Hydronephrosis, Ectopic kidney, Micropenis, Polycystic kidney dysplasia ORPHA:96149
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Postnatal growth retardation, Intrauterine growth retardation, Short st... ORPHA:93325
Schinzel-Giedion Syndrome
Abnormality of the ureter, Nephroblastoma, Nephrolithiasis, Hydronephrosis, Renal cyst, Micropeni... ORPHA:798
Acrofrontofacionasal Dysostosis 1
Short stature, Microphthalmia OMIM:201180
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia ORPHA:1393
Teebi-Shaltout Syndrome
Short stature, Microphthalmia OMIM:272950
Monosomy 13Q14
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:1587
Kenny-Caffey Syndrome, Type 2
Severe short stature, Microphthalmia OMIM:127000
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia OMIM:263520
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Cranioectodermal Dysplasia 2
Renal cyst, Renal insufficiency OMIM:613610
Basal Cell Nevus Syndrome 1
Spina bifida, Microphthalmia OMIM:109400
Fanconi Anemia
Umbilical hernia, Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Spina bifida, ... ORPHA:84
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia OMIM:243605
Gaucher Disease
Hematuria, Proteinuria, Death in infancy ORPHA:355
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short stature, Optic nerve hypoplasia, Spina bifida, Microphthalmia ORPHA:508498
Kawasaki Disease
Proteinuria, Sterile pyuria ORPHA:2331
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Smith-Lemli-Opitz Syndrome
Abnormal localization of kidney, Multicystic kidney dysplasia, Ureteropelvic junction obstruction... ORPHA:818
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Hydroureter, Nephroblastoma, Hydronephrosis, Ureteral duplication, ... ORPHA:373
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe postnatal growth retardation, Intrauterine growth retardation, Microphthalmia OMIM:620005
Trichothiodystrophy
Intrauterine growth retardation, Bilateral microphthalmos, Umbilical hernia ORPHA:33364
Meckel Syndrome
Aplasia/Hypoplasia of the iris, Encephalocele, Anophthalmia, Microphthalmia, Anencephaly ORPHA:564
Autosomal Recessive Robinow Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypoplasia of penis ORPHA:1507
Acro-Renal-Ocular Syndrome
Postnatal growth retardation, Optic disc hypoplasia, Microphthalmia ORPHA:959
Syndromic Diarrhea
Renal hypoplasia, Polycystic kidney dysplasia ORPHA:84064
Pagod Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:991
Caroli Syndrome
Polycystic kidney dysplasia, Abnormality of the kidney ORPHA:480520
Trisomy 10P
Multiple renal cysts, Abnormality of the kidney ORPHA:171929
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypopigmentation of the fundus, Retinal arteriolar tortuosity, Ischemic stroke, Peripapillary atr... OMIM:175780
Microphthalmia, Syndromic 2
Aortic valve stenosis, Retinal detachment, Remnants of the hyaloid vascular system, Iris coloboma... OMIM:300166
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Renal cyst, Hypospadias ORPHA:495875
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Microscopic hematuria, Membranoproliferative glomerulonephritis OMIM:619525
Meckel Syndrome, Type 1
Occipital encephalocele, Intrauterine growth retardation, Large placenta, Microphthalmia, Anencep... OMIM:249000
Chromosome 13Q14 Deletion Syndrome
Umbilical hernia, Growth delay, Microphthalmia OMIM:613884
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Renal cyst, Stillbirth, Micropenis, Polycystic kidney dysplasia OMIM:210710
Distal Deletion 15Q
Micropenis, Abnormal localization of kidney, Multicystic kidney dysplasia, Hypospadias ORPHA:1596
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Beckwith-Wiedemann Syndrome
Nephropathy, Vesicoureteral reflux, Nephroblastoma, Nephrolithiasis, Hypercalciuria, Multiple ren... ORPHA:116
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
Treacher-Collins Syndrome
Branchial fistula, Encephalocele, Microphthalmia ORPHA:861
Isolated Arrhinia
Microphthalmia ORPHA:1134
Neu-Laxova Syndrome 1
Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbilical cord, Spina bif... OMIM:256520
Aicardi Syndrome
Postnatal growth retardation, Spina bifida, Microphthalmia OMIM:304050
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria OMIM:616682
1P36 Deletion Syndrome
Hydronephrosis, Renal cyst, Abnormality of the kidney, Hypoplasia of penis, Hypospadias ORPHA:1606
Myhre Syndrome
Short stature, Intrauterine growth retardation, Birth length less than 3rd percentile, Microphtha... OMIM:139210
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Ogden Syndrome
Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarged kidney OMIM:300855
Hallermann-Streiff Syndrome
Proportionate short stature, Microphthalmia ORPHA:2108
Robinow Syndrome
Webbed penis, Multicystic kidney dysplasia, Hydronephrosis, Micropenis ORPHA:97360
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Short stature, Intrauterine growth retardation, Branchial cyst, Microphthalmia OMIM:620186
Charge Syndrome
Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, Anophthalmia, De... ORPHA:138
Hajdu-Cheney Syndrome
Multiple renal cysts, Hypospadias ORPHA:955
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Roberts Syndrome
Postnatal growth retardation, Severe intrauterine growth retardation, Microphthalmia ORPHA:3103
22Q11.2 Deletion Syndrome
Umbilical hernia, Intrauterine growth retardation, Spina bifida, Microphthalmia, Short stature, M... ORPHA:567
Bartsocas-Papas Syndrome 1
Intrauterine growth retardation, Microphthalmia OMIM:263650
Rothmund-Thomson Syndrome, Type 2
Short stature, Microphthalmia OMIM:268400
Jacobsen Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:2308
Fanconi Anemia, Complementation Group D2
Short stature, Microphthalmia OMIM:227646
Norrie Disease
Optic atrophy, Abnormal vitreous humor morphology, Abnormal retinal vascular morphology, Retinal ... ORPHA:649
Holoprosencephaly 7
Occipital meningocele, Bilateral microphthalmos, Microphthalmia OMIM:610828
Bardet-Biedl Syndrome
Chronic kidney disease, Horseshoe kidney, Vesicoureteral reflux, Polycystic ovaries, Hydronephros... ORPHA:110
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Severe short stature, Anophthalmia, Microphthalmia ORPHA:2526
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Hematuria, Renal tubular ep... ORPHA:95455
Linear Skin Defects With Multiple Congenital Anomalies 1
Short stature, Microphthalmia OMIM:309801
Holoprosencephaly 2
Cyclopia, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system OMIM:157170
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Osteoporosis-Pseudoglioma Syndrome
Short stature, Phthisis bulbi, Microphthalmia OMIM:259770
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Severe short stature, Intrauterine growth retardation, Bilateral microphthalmos, Optic nerve hypo... ORPHA:468631
Aicardi Syndrome
Delayed puberty, Microphthalmia ORPHA:50
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Multicystic kidney dysplasia, Micropenis OMIM:615287
Microphthalmia With Limb Anomalies
Short stature, True anophthalmia, Microphthalmia ORPHA:1106
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Intrauterine growth retardation, Microphthalmia OMIM:608670
Mend Syndrome
Short stature, Microphthalmia ORPHA:401973
Holoprosencephaly 9
Anophthalmia, Microphthalmia, Short stature, Occipital meningocele, Optic nerve hypoplasia OMIM:610829
Tetrasomy 9P
Recurrent urinary tract infections, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Oligo... ORPHA:3310
Fontaine Progeroid Syndrome
Short stature, Intrauterine growth retardation, Umbilical hernia, Microphthalmia OMIM:612289
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Generalized Arterial Calcification Of Infancy
Choroidal neovascularization, Left ventricular systolic dysfunction, Transient ischemic attack, A... ORPHA:51608
Microphthalmia With Linear Skin Defects Syndrome
Severe short stature, Growth delay, Anophthalmia, Microphthalmia ORPHA:2556
C Syndrome
Horseshoe kidney, Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:1308
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Hydronephrosis, Renal cyst, Hypoplasia of penis, Urethrovaginal fistula ORPHA:93271
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia ORPHA:306542
Neuroocular Syndrome 1
Hypoplasia of the fovea, Lens coloboma, Iris coloboma, Remnants of the hyaloid vascular system OMIM:619539
Townes-Brocks Syndrome
Renal hypoplasia, Renal insufficiency, Vesicoureteral reflux, Multiple renal cysts, Ectopic kidne... ORPHA:857
Steinfeld Syndrome
Microphthalmia OMIM:184705
Fraser Syndrome 2
Microphthalmia OMIM:617666
Focal Dermal Hypoplasia
Umbilical hernia, Myelomeningocele, Aniridia, Anophthalmia, Microphthalmia, Short stature, Spina ... OMIM:305600
Skin Creases, Congenital Symmetric Circumferential, 2
Short stature, Microphthalmia OMIM:616734
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Phace Syndrome
Lens coloboma, Optic nerve hypoplasia, Microphthalmia ORPHA:42775
Traboulsi Syndrome
Microphthalmia OMIM:601552
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Peters Plus Syndrome
Multicystic kidney dysplasia, Renal duplication, Renal hypoplasia/aplasia, Hydronephrosis, Ureter... ORPHA:709
Degcags Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:619488
Townes-Brocks Syndrome 1
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureth... OMIM:107480
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Nephroblastoma, Hydronephrosis, Renal cyst, Hypospadias, Enlarged ki... OMIM:312870
Femoral-Facial Syndrome
Micropenis, Abnormal renal collecting system morphology, Polycystic kidney dysplasia, Renal agenesis OMIM:134780
Monosomy 9P
Microphthalmia ORPHA:261112
Adams-Oliver Syndrome 1
Encephalocele, Microphthalmia OMIM:100300
Hydrolethalus Syndrome 1
Intrauterine growth retardation, Anencephaly, Microphthalmia OMIM:236680
Fraser Syndrome
Umbilical hernia, Myelomeningocele, Encephalocele, Anophthalmia, Microphthalmia ORPHA:2052
Yunis-Varon Syndrome
Short stature, Postnatal growth retardation, Bilateral microphthalmos, Microphthalmia ORPHA:3472
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Hypoplasia of penis, Hy... ORPHA:199
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal agenesis, Neonatal death, Hypospad... OMIM:308205
Proteus Syndrome
Enlarged polycystic ovaries, Renal cyst, Long penis, Enlarged kidney ORPHA:744
Witteveen-Kolk Syndrome
Branchial fistula, Intrauterine growth retardation, Microphthalmia, Short stature, Growth delay OMIM:613406
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Renpenning Syndrome 1
Short stature, Microphthalmia OMIM:309500
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Proboscis Lateralis
Optic nerve hypoplasia, Anophthalmia, Microphthalmia ORPHA:141099
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Hypoplasia of the retina, Microphthalmia OMIM:253280
Charge Syndrome
Umbilical hernia, Postnatal growth retardation, Unilateral microphthalmos, Anophthalmia, Delayed ... OMIM:214800
8Q24.3 Microdeletion Syndrome
Infancy onset short-trunk short stature, Branchial cyst, Bilateral microphthalmos, Intrauterine g... ORPHA:508488
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia ORPHA:3404
Branchiooculofacial Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Branchial anomaly, Anophthalmia, M... OMIM:113620
Holoprosencephaly 1
Short stature, Microphthalmia OMIM:236100
Pallister-Hall Syndrome
Short stature, Intrauterine growth retardation, Umbilical hernia, Microphthalmia ORPHA:672
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Micropenis OMIM:606170
Fraser Syndrome 1
Myelomeningocele, Encephalocele, Anophthalmia, Bilateral microphthalmos OMIM:219000
Roberts-Sc Phocomelia Syndrome
Long penis, Horseshoe kidney, Stillbirth, Polycystic kidney dysplasia, Hypospadias OMIM:268300
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Pmm2-Cdg
Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology, Multiple renal cysts ORPHA:79318
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Webbed penis, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal duplication, Hydronephro... ORPHA:261537
Mowat-Wilson Syndrome
Webbed penis, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal duplication, Hydronephro... ORPHA:2152
Pallister-Killian Syndrome
Renal cyst, Hypospadias, Renal dysplasia, Stillbirth OMIM:601803
Mowat-Wilson Syndrome
Short stature, Microphthalmia OMIM:235730
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Vesicoureteral reflux, Ureteropelvic junction obstr... OMIM:164210
Microphthalmia, Syndromic 6
Anophthalmia, Microphthalmia OMIM:607932
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Microphthalmia, Syndromic 1
Growth delay, Anophthalmia, Microphthalmia OMIM:309800

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Kirrel1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Kirrel1.

No publications found that use IMPC mice or data for Kirrel1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Kirrel1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kirrel1em1(IMPC)Mbp Exon Deletion Mice, Tissue
Kirrel1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter