Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
abnormal placenta morphology Kirrel1em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta vasculature Kirrel1em1(IMPC)Mbp HET E15.5 0.00
microphthalmia Kirrel1em1(IMPC)Mbp HOM E15.5 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
eye hemorrhage Kirrel1em1(IMPC)Mbp HET   Early adult 1.64×10-05
preweaning lethality, complete penetrance Kirrel1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal placenta morphology Kirrel1em1(IMPC)Mbp HET E15.5 0.00
microphthalmia Kirrel1em1(IMPC)Mbp HET E15.5 0.00
embryonic growth retardation Kirrel1em1(IMPC)Mbp HET E15.5 0.00
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

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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.

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

Gross Morphology Embryo E14.5-E15.5

Images

12 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
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... 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
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Nephrotic Syndrome, Type 21
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis... OMIM:618594
Coenzyme Q10 Deficiency, Primary, 6
Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St... OMIM:614650
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:616032
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephroblastoma, Diffuse mesangial scleros... OMIM:256370
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... OMIM:618178
Nephrotic Syndrome, Type 20
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:301028
Nephrotic Syndrome, Type 12
Hematuria, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Diffuse mesa... OMIM:616892
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis,... OMIM:610725
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Nephrotic Syndrome, Type 23
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... OMIM:619201
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Steroid-resistant nephrot... OMIM:618176
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stag... OMIM:603965
Glomerulopathy With Fibronectin Deposits 2
Glomerular fibronectin deposits, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Glomerul... OMIM:601894
C3 Glomerulopathy 3
Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo... OMIM:614809
Focal Segmental Glomerulosclerosis 10
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... OMIM:256020
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency OMIM:249660
Glomerulopathy With Fibronectin Deposits 1
Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem... OMIM:137950
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... 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
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria OMIM:614199
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Proteinuria, Focal segmental glomerulosclerosis, Renal insufficiency OMIM:607832
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscle... OMIM:613237
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney d... OMIM:617609
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:614131
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Diffu... OMIM:615244
Macular Degeneration, Age-Related, 1
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... OMIM:603075
Iga Nephropathy, Susceptibility To, 3
Hematuria, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulus, Stage 5 chr... OMIM:616818
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Iga Nephropathy, Susceptibility To, 2
Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease OMIM:613944
Nail-Patella-Like Renal Disease
Microscopic hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2613
Retinopathy Of Prematurity
Vitreous hemorrhage, Tractional retinal detachment, Abnormal retinal vascular morphology, Retinop... ORPHA:90050
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Nephritis, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency OMIM:161900
Nephrotic Syndrome, Type 9
Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephroti... OMIM:615573
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Nephrotic Syndrome, Type 24
Steroid-resistant nephrotic syndrome, Renal cortical hyperechogenicity, Focal segmental glomerulo... OMIM:619263
Genetic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Chronic kidne... ORPHA:656
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... OMIM:616730
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, Glomerular subendothelial electron-dense deposits, Nephrotic syndrome, Micro... ORPHA:54370
Immune Thrombocytopenia
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Epistaxis, Cerebral hemorrhag... ORPHA:3002
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:600995
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Proteinuria, Podocyte foot process e... OMIM:619609
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Purpura, Pulmonary embolism OMIM:612304
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Albumi... OMIM:620536
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Exudative Vitreoretinopathy 4
Posterior vitreous detachment, Retinal exudate, Tractional retinal detachment, Exudative vitreore... OMIM:601813
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinal Capillary Malformation
Retinal exudate, Retinal capillary hemangioma, Vitreous floaters, Hyphema, Epiretinal membrane, C... ORPHA:71213
Idiopathic Steroid-Resistant Nephrotic Syndrome
Acute kidney injury, Minimal change glomerulonephritis, Abnormal glomerular visceral epithelial c... ORPHA:567548
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Congenital nephrotic syndrome, Nephrotic syndrome, Diffuse me... OMIM:617730
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre... ORPHA:891
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Congenital nephrotic syndrome, Renal tubular atrophy, Proteinuria, Diffuse ... OMIM:256300
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Iga Nephropathy, Susceptibility To, 1
Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease OMIM:161950
Reni Syndrome
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephrotic syndrome, Diffuse... OMIM:617575
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem... OMIM:614377
Galloway-Mowat Syndrome 7
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... OMIM:618348
Eales Disease
Retinal thinning, Ischemic stroke, Peripheral retinal neovascularization, Cystoid macular edema, ... ORPHA:40923
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Nephrotic Syndrome, Type 26
Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal s... OMIM:620049
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Nephrotic syndrome, Proteinuria, Podocyte foot process effacement OMIM:617006
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Focal Segmental Glomerulosclerosis 9
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis 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
Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp... OMIM:611555
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Nephrotic syndrome, Podo... OMIM:615861
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Nephropathy, Focal segmental glomerulosclerosis, IgA deposition in the glomerulus OMIM:182690
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematur... ORPHA:84090
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Nephrotic syndrome, Hematuria, Proteinuria, Membranoproliferative glomerulonephritis OMIM:613913
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Nephroti... ORPHA:567544
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Nephrotic Syndrome, Type 22
Glomerular sclerosis, Nephrotic range proteinuria, Podocyte foot process effacement, Nephrotic sy... OMIM:619155
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... OMIM:608850
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... OMIM:614817
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Proteinuria ORPHA:2134
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... OMIM:305390
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Cystinuria
Argininuria, Recurrent urinary tract infections, Nephrolithiasis, Ornithinuria, Hyperlysinuria, R... OMIM:220100
Denys-Drash Syndrome
Nephrotic syndrome, Nephroblastoma, Nephropathy, Proteinuria ORPHA:220
Adenine Phosphoribosyltransferase Deficiency
Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph... ORPHA:976
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology ORPHA:839
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Nephrotic syndrome, Proteinuria, Membranoproliferative glomerulonephritis, Polycystic ... OMIM:608709
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, Reduced renal corticomed... OMIM:603278
Vitreoretinochoroidopathy
Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti... OMIM:193220
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull... OMIM:617610
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:618349
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Retinal dystrophy, Remnants of the hyaloid vascular system, Chorioretinal c... ORPHA:231736
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:614455
Galloway-Mowat Syndrome 9
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis OMIM:619603
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Amyloidosis, Familial Visceral
Hematuria, Nephrotic syndrome, Proteinuria, Renal amyloidosis, Nephropathy OMIM:105200
Frasier Syndrome
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:136680
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:291
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Pelvic kidney, Recurrent urinary tra... ORPHA:93101
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical... OMIM:220150
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hydronephrosis... OMIM:613496
C3 Glomerulopathy
Acute kidney injury, Hematuria, Nephrotic syndrome, Proteinuria, Mesangial hypercellularity, Chro... ORPHA:329918
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Denys-Drash Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Neonatal death, Diffuse ... OMIM:194080
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... OMIM:617731
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Bardet-Biedl Syndrome 16
Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615993
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:609054
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye, Remnants of the hyaloid vascular system, Retinal fold, Tractional retinal ... ORPHA:91495
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Protei... OMIM:301006
Dent Disease 2
Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Nephrocalcinosis, Chronic... OMIM:300555
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Renal cyst OMIM:614870
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Alport Syndrome 2, Autosomal Recessive
Hematuria, Nephrotic syndrome, Thickened glomerular basement membrane, Nephritis, Proteinuria, St... OMIM:203780
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Acquired Partial Lipodystrophy
Microscopic hematuria, Glomerulopathy, Proteinuria ORPHA:79087
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Hematuria, Proteinuria, Abnormal renal physiology OMIM:123550
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Nephrotic syndrome, Mesangial hypercellularity, Focal segmental glomerulosclerosis OMIM:620425
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microphthalmia OMIM:616570
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Nanophthalmos
Microphthalmia ORPHA:35612
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1909
Galloway-Mowat Syndrome 3
Glomerular sclerosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chron... 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
Renotubular dysgenesis, Proximal tubulopathy, Nephropathy, Multiple renal cysts ORPHA:3033
Fanconi Renotubular Syndrome 2
Decreased glomerular filtration rate, Renal phosphate wasting, Generalized aminoaciduria, Hyperca... OMIM:613388
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Renal cyst, Chronic kidney disease OMIM:617056
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Renal insufficiency, Aminoaciduria OMIM:615605
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Aa Amyloidosis
Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephrotic syndrome, Proteinuria,... ORPHA:85445
Uveal Melanoma
Retinal detachment, Vitreous hemorrhage, Abnormal fundus morphology ORPHA:39044
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Proteinuria, Stage 5 chronic kidney di... ORPHA:650
Alport Syndrome
Thin glomerular basement membrane, Hematuria, Renal glomerular foam cells, Glomerular C3 depositi... ORPHA:63
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system, Retinal fold, Hyphema, Iris coloboma OMIM:221900
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Supraventricular arrhythmia, Retinal hemorrhage, Raynaud phenomenon, Lacunar stroke, Retinal arte... OMIM:611773
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Microphthalmia, Short stature ORPHA:2528
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria, Stage 5 chronic k... OMIM:612925
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Neonatal death OMIM:602199
Frasier Syndrome
Glomerulopathy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Nephroblasto... ORPHA:347
Alport Syndrome 3A, Autosomal Dominant
Hematuria, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement membrane, Nep... OMIM:104200
Fanconi Renotubular Syndrome 1
Low-molecular-weight proteinuria, Renal tubular dysfunction, Glycosuria, Hyperphosphaturia, Impai... OMIM:134600
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency ORPHA:375
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria OMIM:618913
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... OMIM:603860
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis,... OMIM:251300
Renal Dysplasia
Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure... ORPHA:93108
Thrombotic Thrombocytopenic Purpura
Hematuria, Acute kidney injury, Renal insufficiency, Proteinuria ORPHA:54057
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis OMIM:618347
Dent Disease
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... ORPHA:1652
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria 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
Pseudoxanthoma Elasticum
Congestive heart failure, Gastrointestinal hemorrhage, Retinal peau d'orange, Choroidal neovascul... OMIM:264800
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal interstitial fibrosis, Renal cyst, Hyperechoge... OMIM:619902
Imerslund-Grasbeck Syndrome 2
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Moderate albuminuria OMIM:618882
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria OMIM:612926
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia OMIM:278780
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency OMIM:610205
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Cednik Syndrome
Nephrotic syndrome, Proteinuria ORPHA:66631
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Stage 5 chronic kidney disease... ORPHA:228302
Biemond Syndrome Type 2
Delayed puberty, Microphthalmia, Short stature ORPHA:141333
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Nephrotic syndrome, Mild proteinuria, Death in childhood, Focal segmental glomerulosclerosis OMIM:301108
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:1192
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria OMIM:215250
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia OMIM:218670
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria OMIM:620010
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Proteinuria OMIM:619858
Dent Disease 1
Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ... OMIM:300009
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerular sclerosis, Nephrotic syndrome, Proteinuria, Glomerulonephritis OMIM:619428
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Renal tubular acidosis, Death in infancy, Glycosuria, Nephrocalcinosis, Proteinuria, Nephropathy,... OMIM:613404
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Multicentric Carpotarsal Osteolysis Syndrome
Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Bilateral renal atrophy OMIM:166300
Myh9-Related Disease
Nephritis, Nephropathy, Proteinuria, Renal insufficiency ORPHA:182050
Oligomeganephronia
Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal agenesis, Abn... ORPHA:2260
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Distal 16P11.2 Microdeletion Syndrome
Abnormality of the kidney, Vesicoureteral reflux, Renal agenesis, Proteinuria, Chronic kidney dis... ORPHA:261222
Pierson Syndrome
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hyperechogenic kidneys, Stage 5 chr... OMIM:609049
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena, Retinal hemorrhage, Hypertro... ORPHA:464321
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Microphthalmia, Short stature OMIM:616171
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Neonatal death, Hydronephrosis, Renal cyst OMIM:613390
Leiomyomatosis, Diffuse, With Alport Syndrome
Hematuria, Nephropathy, Microscopic hematuria, Thickened glomerular basement membrane, Abnormal r... OMIM:308940
Cat-Eye Syndrome
Short stature, Microphthalmia, Intrauterine growth retardation ORPHA:195
Primary Hyperoxaluria Type 3
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Pollakisuria, Dysuria, Abnormality of ... ORPHA:93600
Joubert Syndrome 20
Renal cyst OMIM:614970
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Renal Hypoplasia, Bilateral
Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst... ORPHA:97362
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Renal artery stenosis, Proteinuria, Nephropathy OMIM:209010
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... OMIM:174000
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hematuria, Unilateral renal dysplasia, Nephrotic syndrome, Thickened glomerular basement membrane... OMIM:146255
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Short stature, Microphthalmia OMIM:610023
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreatic cysts, Rena... OMIM:263200
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Stage 5 chronic kidney disea... 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
Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, Renal cyst... OMIM:120330
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Cofs Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:1466
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in childhood, Hematuria, Death in infancy, Proteinuria, Tubulointerstitial nephritis OMIM:616901
Alport Syndrome 1, X-Linked
Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement membrane, Nephritis, Pro... OMIM:301050
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Nephronophthisis 9
Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts, Nephronophthisis OMIM:613824
Mmep Syndrome
Microphthalmia ORPHA:3434
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Epistaxis, Diffuse alveolar hemorr... ORPHA:99827
Preeclampsia
Abnormality of the kidney, Acute kidney injury, Proteinuria, Chronic kidney disease, Renal insuff... ORPHA:275555
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Nephronophthisis 1
Polyuria, Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Tubular basement membrane... OMIM:256100
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria, Aminoaciduria 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
Stillbirth, Hepatic cysts, Renal cyst OMIM:263630
Pauci-Immune Glomerulonephritis
Acute kidney injury, Decreased glomerular filtration rate, Glomerular sclerosis, Nephrotic range ... ORPHA:93126
Idiopathic Aplastic Anemia
Ecchymosis, Gingival bleeding, Epistaxis, Retinal hemorrhage ORPHA:88
Phacoanaphylactic Uveitis
Abnormal vitreous humor morphology, Cystoid macular edema, Vitreoretinopathy, Hyphema, Tractional... ORPHA:209959
Coenzyme Q10 Deficiency, Primary, 1
Glomerular sclerosis, Recurrent myoglobinuria, Focal segmental glomerulosclerosis, Nephrotic synd... OMIM:607426
Retinoblastoma
Retinoblastoma, Retinal calcification, Subretinal pigment epithelium hemorrhage, Hyphema, Abnorma... ORPHA:790
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Hartsfield Syndrome
Intrauterine growth retardation, Microphthalmia, Encephalocele ORPHA:2117
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia ORPHA:324416
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Ren... ORPHA:439232
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Renal cyst, Renal hypoplasia, Neonatal death, Ureteral agenesis, Renal dysplasia OMIM:236500
2Q24 Microdeletion Syndrome
Growth delay, Microphthalmia ORPHA:1617
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins... ORPHA:1475
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... OMIM:145001
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Proteinuria, Nephropathy ORPHA:1765
Microphthalmia/Coloboma 12
Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal coloboma, Optic disc ... OMIM:120200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Primary Hyperoxaluria Type 2
Hyperoxaluria, Recurrent urinary tract infections, Nephrolithiasis, Ureteral obstruction, Nephroc... ORPHA:93599
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hyperoxaluria, Nephrocalcinosis, Hypocitraturia, Nephrolithiasis OMIM:620374
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Ecchymosis, Epistaxis, Subconjunctival hemorrhage, Bruisi... ORPHA:464329
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr... ORPHA:276621
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abnormality of the kidney, Proteinuria 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
Glomerulopathy, Nephropathy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria,... OMIM:254900
Hypophosphatemic Rickets, X-Linked Recessive
Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ... OMIM:300554
Renal Agenesis
Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Renal age... ORPHA:411709
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Dark urine, Chronic... ORPHA:368
Hyperoxaluria, Primary, Type Ii
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Renal insufficiency OMIM:260000
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Leptospirosis
Optic neuritis, Chorioretinitis, Macular cotton wool spot, Retinal hemorrhage, Hypotension, Peric... ORPHA:509
Mu-Heavy Chain Disease
Bence Jones Proteinuria, Nephropathy ORPHA:100024
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Axial Osteomalacia
Renal cyst OMIM:109130
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Vesicoureteral reflux, Multiple renal cysts ORPHA:1166
Glycogen Storage Disease V
Myoglobinuria, Dark urine OMIM:232600
Nephronophthisis 4
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 chronic k... OMIM:606966
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Retinal exudate, Retinal hemorrhage, Vasculitis in the skin, Punctat... OMIM:192315
Joubert Syndrome 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst OMIM:611560
Lujo Hemorrhagic Fever
Myocarditis, Purpura, Bradycardia, Hypotension, Ecchymosis, Subconjunctival hemorrhage, Excessive... ORPHA:319213
Retinoblastoma
Vitreous hemorrhage, Retinal calcification, Vitritis, Retinoblastoma 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
Abnormality of the kidney, Hypospadias, Unilateral renal agenesis, Multiple glomerular cysts, Abn... OMIM:137920
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Melena, Petechiae, Capillary leak, Hypertension, Hypotension, Internal hemorrhage, E... ORPHA:340
Joubert Syndrome 22
Intrauterine growth retardation, Microphthalmia OMIM:615665
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Combined Oxidative Phosphorylation Deficiency 11
Stillbirth, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Neonatal death, Renal dysplasia... OMIM:614922
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Joubert Syndrome 18
Horseshoe kidney, Renal cyst OMIM:614815
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ... OMIM:231680
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Pseudo-Torch Syndrome 3
Acute kidney injury, Proteinuria, Death in infancy OMIM:618886
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Senior-Loken Syndrome 8
Nephronophthisis, Glomerular subepithelial immune-complex deposits, Global glomerulosclerosis, He... OMIM:616307
Cystinosis
Nephropathy, Proteinuria, Renal insufficiency, Aminoaciduria, Renal tubular dysfunction ORPHA:213
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Free Sialic Acid Storage Disease
Nephrotic syndrome, Proteinuria ORPHA:834
Joubert Syndrome 35
Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis OMIM:618161
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Bicarbonaturia, Generalized aminoaciduria, Abnormal urine pH, R... ORPHA:3337
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angioid streaks of the fundus, Angina pectoris, Macular degeneration... OMIM:177850
Galactosemia I
Increased level of galactitol in urine, Albuminuria, Aminoaciduria, Galactosuria OMIM:230400
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Hyperechogenic kidneys, Proteinuria, Chronic kidney disease OMIM:613845
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:48431
Hereditary Amyloidosis With Primary Renal Involvement
Renal interstitial amyloid deposits, Decreased glomerular filtration rate, Tubulointerstitial fib... ORPHA:85450
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Death in childhood, Glycosuria, Hyperphosphaturia, Proteinuria, Aminoaciduria, Renal Fanconi synd... OMIM:220110
Meckel Syndrome, Type 2
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Intrauterine growth retardation OMIM:603194
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Renal insufficiency OMIM:300653
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, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:91138
Meckel Syndrome, Type 8
Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia OMIM:613885
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Short stature, Microphthalmia OMIM:251270
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... OMIM:602088
Renal Hypodysplasia/Aplasia 1
Renal dysplasia, Bilateral renal agenesis, Proteinuria OMIM:191830
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Myoglobinuria, Neonatal death, Recurrent myoglobinuria OMIM:620300
Congenital Toxoplasmosis
Intrauterine growth retardation, Microphthalmia ORPHA:858
Fetal Cytomegalovirus Syndrome
Optic atrophy, Petechiae, Chorioretinitis, Retinal hemorrhage ORPHA:294
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Microscopic hematuria, Mac... ORPHA:567546
Hereditary Pheochromocytoma-Paraganglioma
Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr... ORPHA:29072
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria, Proteinuria ORPHA:251004
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Proteinuria, Increased urinary O-linked sialope... OMIM:256550
Hypomagnesemia 3, Renal
Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Hyposthenuria, Nephrolit... OMIM:248250
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Prune Belly Syndrome
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... ORPHA:2970
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Renal pot... ORPHA:18
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Retinal hemorrhage OMIM:615368
Becker Muscular Dystrophy
Myoglobinuria, Abnormal urinary color ORPHA:98895
Juvenile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Renal phosphate wasting, Proximal tubulopathy, Microscopic hema... ORPHA:411634
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Hyperphosphaturia, Proteinuria, Aminoaciduria, Renal Fanconi syndrome, Renal tubular ... ORPHA:436271
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Polycystic kidney dysplasia, Multiple renal cysts, Hepatic cy... OMIM:613095
Glycogen Storage Disease Ia
Enlarged kidney, Decreased glomerular filtration rate, Nephrolithiasis, Focal segmental glomerulo... OMIM:232200
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Renal tubular dysfunction, Hypercalciuria, Beta 2-microglobulinuria, H... OMIM:227810
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Lissencephaly 8
Occipital encephalocele, Microphthalmia OMIM:617255
Schimke Immuno-Osseous Dysplasia
Minimal change glomerulonephritis, Nephrotic range proteinuria, Focal segmental glomerulosclerosi... ORPHA:1830
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Myoglobinuria, Polycystic kidney dysplasia, Red-brown urine, T... ORPHA:157
Heme Oxygenase 1 Deficiency
Nephritis, Hematuria, Proteinuria OMIM:614034
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Microphthalmia, Rhizomelia, Short stature OMIM:300863
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Cerebrooculofacioskeletal Syndrome 2
Intrauterine growth retardation, Microphthalmia, Growth delay OMIM:610756
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2715
Warburg Micro Syndrome 1
Short stature, Microphthalmia OMIM:600118
Congenital Rubella Syndrome
Intrauterine growth retardation, Microphthalmia, Aplasia/Hypoplasia of the iris, Short stature ORPHA:290
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Wild Type Attr Amyloidosis
Nephrotic syndrome, Nephropathy, Proteinuria, Renal insufficiency ORPHA:330001
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Decreased glomerular filtration rate, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Tu... ORPHA:488627
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Pierpont Syndrome
Short stature, Microphthalmia OMIM:602342
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly OMIM:611561
Senior-Loken Syndrome 3
Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts OMIM:606995
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Meckel Syndrome, Type 4
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Intrauterine growth retardation OMIM:611134
Genetic Recurrent Myoglobinuria
Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Dark urine, Oliguri... ORPHA:99845
Oculogastrointestinal Neurodevelopmental Syndrome
Short stature, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Thrombotic Thrombocytopenic Purpura, Hereditary
Microscopic hematuria, Hemolytic-uremic syndrome, Proteinuria, Abnormal renal physiology OMIM:274150
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine level, Proteinuria OMIM:171420
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Hypocomplementemic Urticarial Vasculitis
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:36412
Bor Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst... ORPHA:107
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Renal duplication, Proteinuria, Tubulointerst... ORPHA:33001
Atelis Syndrome 2
Vitreous hemorrhage, Supravalvar pulmonary stenosis, Pulmonic stenosis, Remnants of the hyaloid v... OMIM:620185
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis in the skin, Vasculitis, Hematochezia, Subconjunctival hemorrhage OMIM:617718
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephritis, Renal tubular... OMIM:617303
Aicardi-Goutieres Syndrome 9
Glomerular sclerosis, Renal insufficiency, Recurrent urinary tract infections, Thickened glomerul... OMIM:619487
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Retinal neovascularization, Hypertension, Retinal cotton wool spot, ... ORPHA:247691
Marburg Hemorrhagic Fever
Prolonged prothrombin time, Abnormal bleeding, Bradycardia, Petechiae, Capillary leak, Hypotensio... ORPHA:99826
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Hyperechogenic... OMIM:613159
Glycogen Storage Disease Due To Aldolase A Deficiency
Myoglobinuria, Acute kidney injury ORPHA:57
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Pediatric Systemic Lupus Erythematosus
Hematuria, Abnormality of the urinary system, Nephrotic syndrome, Nephritis, Dark urine, Proteinu... ORPHA:93552
Pierpont Syndrome
Microphthalmia ORPHA:487825
Papa Syndrome
Proteinuria ORPHA:69126
Simple Cryoglobulinemia
Abnormality of the kidney, Nephrotic syndrome, Microscopic hematuria, Nephritis, Proteinuria, Mes... ORPHA:91139
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypercalciuria, Bi... ORPHA:47159
Juvenile Xanthogranuloma
Hyphema ORPHA:158000
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Renal cyst OMIM:614175
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disea... OMIM:242900
Developmental And Epileptic Encephalopathy 1
Growth delay, Microphthalmia OMIM:308350
Seckel Syndrome 2
Short stature, Microphthalmia, Growth delay 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
Acute kidney injury, Exercise-induced myoglobinuria, Chronic kidney disease ORPHA:284426
Bresek Syndrome
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Growth delay ORPHA:85284
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Optic nerve hypoplasia, Microphthalmia, Mild short stature OMIM:614833
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Myoglobinuria, Polycystic kidney dyspla... ORPHA:228308
Arima Syndrome
Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, ... OMIM:243910
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Bardet-Biedl Syndrome 17
Polyuria, Stage 5 chronic kidney disease, Micropenis, Renal cyst OMIM:615994
Glycogen Storage Disease Ib
Enlarged kidney, Decreased glomerular filtration rate, Nephrolithiasis, Focal segmental glomerulo... OMIM:232220
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple... OMIM:216360
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1438
Majeed Syndrome
Microscopic hematuria, Glomerulopathy, Proteinuria ORPHA:77297
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Microscopic hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:86818
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnormal localiz... ORPHA:1834
Baraitser-Winter Syndrome 2
Short stature, Microphthalmia OMIM:614583
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angioid streaks of the fundus, Angina pectoris, Hypertension, Restri... ORPHA:758
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Nephrocalcinosis, Renal insufficiency, Renal cyst ORPHA:445038
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Rhizomelia ORPHA:93267
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria ORPHA:90060
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Retinal arterial tortuosity, Retinal detachment, Retinal hemorrhage, Tricuspid regurgitation, Cer... OMIM:620371
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia, Long penis ORPHA:1988
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ... ORPHA:2973
Galloway-Mowat Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:2065
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Fabry Disease
Urinary mulberry cells, Proteinuria, Lipiduria, Renal insufficiency OMIM:301500
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Pelvis-Shoulder Dysplasia
Short stature, Microphthalmia, Spina bifida occulta OMIM:169550
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Intrauterine growth retardation, Microphthalmia, Rhizomelia, Short stature ORPHA:163966
Nephronophthisis 11
Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Stag... OMIM:613550
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Mild proteinuria, Death in childhood OMIM:619685
Frontonasal Dysplasia 1
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele OMIM:136760
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Enlarged kidney, Hepatic cysts, Cystic renal dysplasia OMIM:615415
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Hyperechogenic kidneys, Hemolytic-uremic syndrome, Proteinuria, Moderate proteinuria OMIM:301110
Refractory Anemia With Excess Blasts
Palpitations, Abnormal bleeding, Retinal hemorrhage ORPHA:86839
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Renal cyst OMIM:602579
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Renal Fanconi syndrome, Proteinuria ORPHA:263455
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3</