banner
Genes Phenotypes Help, News, Blog

Gene: Slc4a11 MGI:2138987

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
solute carrier family 4, sodium bicarbonate transporter-like, member 11
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Slc4a11 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 Slc4a11 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy, Sensorineural hearing impairment OMIM:217400
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Sensorineural hearing impairment, C... ORPHA:293603
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal dystrophy, Corneal opacity ORPHA:1490
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268

The table below shows human diseases predicted to be associated to Slc4a11 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect... OMIM:248190
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy, Sensorineural hearing impairment OMIM:217400
Hypomagnesemia 2, Renal
Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia OMIM:154020
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... OMIM:616515
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease, Corneal crystals OMIM:219900
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Hypophosphatemia, Aminoaciduria, A... ORPHA:411634
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu... OMIM:607364
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr... OMIM:613090
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Sensorineural hearing impairment, C... ORPHA:293603
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypomagnesiuria, Nephrolithiasis, Paratho... ORPHA:405
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ... ORPHA:564178
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Infantile Nephropathic Cystinosis
Aminoaciduria, Abnormal cornea morphology, Corneal crystals, Glycosuria, Low-molecular-weight pro... ORPHA:411629
Hyperlipoproteinemia, Type Ii, And Deafness
Hearing impairment, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglycer... OMIM:144300
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy, Edema OMIM:610158
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal dystrophy, Corneal opacity ORPHA:1490
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus, Decreased HDL cholesterol concentration OMIM:618463
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Galactosemia Ii
Galactosuria, Hypergalactosemia, Cataract OMIM:230200
Fish-Eye Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... OMIM:136120
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... OMIM:248250
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, 3-Methylglutaconic aciduria OMIM:619813
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Proteinuria, Hypertriglyceridemia, ... OMIM:245900
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular... OMIM:145981
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Hypercalcemia OMIM:145980
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu... OMIM:602522
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma, Increased urinary disaccharide excretion OMIM:271630
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Hypophosph... OMIM:616963
Idiopathic Hypercalciuria
Calcium oxalate nephrolithiasis, Renal calcium wasting, Hypercalciuria ORPHA:2197
Medullary Sponge Kidney
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis ORPHA:1309
Galactosialidosis
Hearing impairment, Corneal opacity ORPHA:351
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium... OMIM:618314
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Cataract ORPHA:2278
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Hematuria, Posterior embryotoxon, Corneal opacity, Iris coloboma ORPHA:1473
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Alport Syndrome
Thickened glomerular basement membrane, IgA deposition in the glomerulus, Renal glomerular foam c... ORPHA:63
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephro... OMIM:600740
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Hypomagnesemia, Renal sodium wasting, Hypokalemia, Polyuria, Renal salt ... OMIM:612780
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Mucopolysacchariduria, Nephrotic syndrome, Opacification of the corneal stroma OMIM:215250
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Aminoaciduria, Genera... OMIM:219800
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Hypercal... OMIM:143880
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Helix Syndrome
Hypermagnesemia, Hypocalciuria, Xerostomia, Renal insufficiency, Nephrolithiasis, Hypokalemia, Po... OMIM:617671
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria, Dehydration OMIM:602722
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Dibasic Amino Aciduria I
Ornithinuria, Hyperlysinuria, Dibasicaminoaciduria, Argininuria OMIM:222690
Corneal Dystrophy, Congenital Stromal
Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion OMIM:610048
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Ocular Cystinosis
Corneal crystals ORPHA:411641
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cataract, Band keratopathy, Bicarbonate-wasting renal tubular acidosis, Hyperamylasemia, Hypokale... OMIM:604278
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Bilateral Acute Depigmentation Of The Iris
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... ORPHA:69736
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
East Syndrome
Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, Renal sodium... ORPHA:199343
Cataract 47
Cataract, Microcornea, Glycosuria OMIM:612018
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria, Hyperprolinemia ORPHA:419
Leber Congenital Amaurosis 1
Hyperthreoninuria, Keratoconus, Hyperthreoninemia, Cataract OMIM:204000
Hyperprolinemia, Type Ii
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid... OMIM:239510
Dermoids Of Cornea
Corneal opacity OMIM:304730
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia, Hypercalciuria OMIM:612286
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Polyhydramnios, ... OMIM:300971
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:614131
Gitelman Syndrome
Hypocalciuria, Enuresis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Nocturia... OMIM:263800
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals OMIM:210370
Saccharopinuria
Saccharopinuria, Histidinuria, Hyperlysinuria, Elevated urinary saccharopine level, Citrullinuria... OMIM:268700
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Preeclampsia/Eclampsia 1
Proteinuria, Edema OMIM:189800
Herpes Simplex Virus Stromal Keratitis
Corneal perforation, Keratitis, Conjunctival hyperemia, Corneal stromal edema, Herpetiform cornea... ORPHA:137599
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Hypospadias OMIM:201710
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Keratoconus Posticus Circumscriptus
Central posterior corneal opacity, Keratoconus, Vesicoureteral reflux, Recurrent urinary tract in... OMIM:244600
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Hypercalciuria, Hypercalcemia, Renal tubular acidosis OMIM:239199
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:600995
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Increased... OMIM:601678
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ... ORPHA:94088
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Increased... OMIM:241200
Enamel-Renal Syndrome
Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren... ORPHA:1031
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Renal hypophosphatemia, Hematuria, Tubulointerst... ORPHA:1652
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ... OMIM:615573
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Nephrocalcinosis, Hypomagnesemia, Hypocalcemic tetany, Hypocal... ORPHA:73224
Sialidosis Type 2
Nephropathy, Ascites, Corneal opacity, Hydrops fetalis, Pedal edema ORPHA:87876
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:242600
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria ORPHA:42062
Mucolipidosis Iv
Optic atrophy, Opacification of the corneal stroma, Corneal opacity OMIM:252650
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Cornea... OMIM:166300
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity, Micropenis, Hydrops fetalis, Hypospadias OMIM:618815
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... OMIM:619468
Galactose Epimerase Deficiency
Aminoaciduria, Cataract ORPHA:79238
Mucopolysaccharidosis Type 6
Mucopolysacchariduria, Chronic otitis media, Opacification of the corneal stroma, Hearing impairment ORPHA:583
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Hyper... ORPHA:99879
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Spondyloepiphyseal Dysplasia, Maroteaux Type
Mucopolysacchariduria, Opacification of the corneal stroma OMIM:184095
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubular acidosis OMIM:179830
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypocalcemic seizures ORPHA:2239
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Proximal Renal Tubular Acidosis
Aminoaciduria, Cataract, Nephrocalcinosis, Band keratopathy, Glycosuria, Hypernatriuria, Low-mole... ORPHA:47159
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Hypouricemia, Decreas... ORPHA:3337
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Proteinuria, Hematuria, Corneal opacity ORPHA:1765
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Urinary bladder sphincter ... ORPHA:320401
Carnosinemia
Carnosinuria OMIM:212200
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma, Hearing impairment OMIM:120433
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Autosomal Dominant Hypocalcemia
Optic atrophy, Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria,... ORPHA:428
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Hearing impairment, Opacification of the corneal stroma, Hypospadias, Anterior chamb... OMIM:601499
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Cystinosis
Nephropathy, Aminoaciduria, Renal insufficiency, Renal tubular dysfunction, Proteinuria, Hypokale... ORPHA:213
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Micropenis, Hypercalcemia, Hypercalciuria, Hypospadias OMIM:614732
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Cataract, Anterior lenticonus, Nephritis, Glomerular base... OMIM:203780
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:613550
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Morquio Syndrome C
Corneal opacity OMIM:252300
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma, Hearing impairment OMIM:256540
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Renal Glucosuria
Enuresis nocturna, Glycosuria, Polyuria OMIM:233100
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria OMIM:606996
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Indolylacroyl Glycinuria With Impaired Intellectual Development
Hyperglycinuria OMIM:243050
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome, Edema, Hypoalbuminemia OMIM:614652
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... OMIM:614170
Winchester Syndrome
Corneal opacity OMIM:277950
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Ascites, Stage 5 chr... OMIM:603278
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating renin level OMIM:203400
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating renin level OMIM:610600
Methionine Malabsorption Syndrome
Aminoaciduria, Positive ferric chloride test, Blue irides OMIM:250900
Stickler Syndrome Type 2
Sensorineural hearing impairment, Cataract, Corneal opacity ORPHA:90654
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... ORPHA:171673
Norrie Disease
Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Sensorineur... OMIM:310600
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hypomagnesemia, Hyperechogenic kidneys, Hyperuricemia, Proteinuria, Hypon... OMIM:613845
Rotor Syndrome
Conjunctival icterus, Bilirubinuria, Hyperbilirubinemia, Porphyrinuria, Conjugated hyperbilirubin... ORPHA:3111
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:610725
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma, Atresia of the external auditory canal OMIM:601356
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Medullary nephrocalcinosis, Hypo... ORPHA:157215
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Stage 5 c... OMIM:614196
Mucolipidosis Iii Gamma
Mucopolysacchariduria, Opacification of the corneal stroma, Increased serum beta-hexosaminidase OMIM:252605
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria OMIM:620152
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Mucoepithelial Dysplasia, Hereditary
Cataract, Hearing impairment, Corneal neovascularization, Hematuria, Keratoconjunctivitis, Opacif... OMIM:158310
Gracile Syndrome
Aminoaciduria, Increased circulating iron concentration, Increased serum pyruvate, Increased circ... OMIM:603358
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Pseudo-Torch Syndrome 1
Low-set ears, Cataract, Opacification of the corneal stroma, Renal insufficiency OMIM:251290
Oculoskeletodental Syndrome
Renal agenesis, Hypocalcemia, Hypercalciuria, Mucopolysacchariduria, Developmental cataract, Hype... OMIM:618440
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Cataract, Abnormal helix morphology, Opacification of the corneal stroma, Optic ne... OMIM:214110
Alpha-Methylacetoacetic Aciduria
Elevated urinary 2-methyl-3-hydroxybutyric acid level, Dehydration OMIM:203750
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Renal insufficiency, Corneal opacity ORPHA:281090
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... OMIM:300554
Tangier Disease
Facial diplegia, Hypertriglyceridemia, Elevated circulating apolipoprotein A-II concentration, De... OMIM:205400
Nephronophthisis 9
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts OMIM:613824
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Hyperbi... OMIM:227810
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Tyrosinemia, Type Ii
4-Hydroxyphenylpyruvic aciduria, Elevated urine N-acetyltyrosine level, Herpetiform corneal ulcer... OMIM:276600
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Hypercalciuria, Polyuria, Decreased circulating renin level OMIM:613677
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Proteinuria, Hematuria, Nephrotic syndrome, Edema OMIM:105200
Type 1 Diabetes Mellitus
Decreased level of 1,5 anhydroglucitol in serum, Polyuria OMIM:222100
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:256100
Mucopolysaccharidosis, Type Ivb
Hearing impairment, Chondroitin sulfate excretion in urine, Keratan sulfate excretion in urine, C... OMIM:253010
Hydroxykynureninuria
Elevated urinary 3-hydroxykynurenine level, Elevated urinary xanthurenic acid level OMIM:236800
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Hearing impairment, Polyuria OMIM:560000
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure... OMIM:300539
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration OMIM:264350
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria, Ectopia lentis ORPHA:833
Mucopolysaccharidosis, Type Iva
Keratan sulfate excretion in urine, Opacification of the corneal stroma, Hearing impairment, Chon... OMIM:253000
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Hypophosphatasia, Infantile
Nephrocalcinosis, Phosphoethanolaminuria, Elevated plasma pyrophosphate, Polyhydramnios, Hypercal... OMIM:241500
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Vestibular hypofunction, Astigmatism, Sensorineural hearing impa... ORPHA:231183
Sialidosis Type 1
Aminoaciduria, Cataract, Urinary excretion of sialylated oligosaccharides, Increased urinary O-li... ORPHA:812
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Astigmatism, Abnormality of visual evoked... OMIM:617523
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Hypomagnesemia, Stage 5 chronic ki... ORPHA:89938
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Episodic ammonia intoxication, Hyperammonemia, Hypoargininemia ORPHA:147
Hyperlysinemia, Type I
Hypoornithinemia, Hyperlysinuria, Ectopia lentis, Cystinuria, Hyperlysinemia, Ornithinuria, Argin... OMIM:238700
Nephrotic Syndrome, Type 8
Chronic kidney disease, Hypoalbuminemia, Thin glomerular basement membrane, Generalized edema, St... OMIM:615244
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Band keratopathy, Hypoplasia of the iris, Vertigo, Ocular anterior segment dysgenesis, Anterior s... OMIM:614195
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Abnormally prominent line of Schwalbe, Abnormal auditory evoked potentials, Senso... OMIM:109120
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Corneal arcus, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Positive ferric chloride test, Elevated urinary formiminoglutamic acid level OMIM:229100
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Hyp... ORPHA:2088
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, 3-Methylglutaconic aciduria, Corneal opacity ORPHA:496790
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... ORPHA:98957
Hyperglycinuria
Calcium oxalate nephrolithiasis, Hyperglycinuria OMIM:138500
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
Mucopolysaccharidosis Type 7
Lymphedema, Ascites, Mucopolysacchariduria, Corneal opacity, Hydrops fetalis ORPHA:584
Scheie Syndrome
Mucopolysacchariduria, Corneal opacity ORPHA:93474
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Increased circulating renin level OMIM:619406
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Galactosemia Iii
Aminoaciduria, Galactosuria, Hypergalactosemia OMIM:230350
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Calcium nephrolithiasis, Hypophosphatemic rickets, Renal tubular dysfunc... OMIM:241530
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Alpha-Mannosidosis, Adult Form
Cataract, Oligosacchariduria, Corneal opacity ORPHA:309288
X-Linked Hypophosphatemia
Renal phosphate wasting, Hypophosphatemia, Hypocalciuria ORPHA:89936
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Polyuria, Calcinosis, Hyperca... OMIM:239200
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Nephrolithiasis OMIM:612287
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma, Abnormal circulating lipid concentration, Decreased HDL chol... ORPHA:425
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Postural hypotension with compensatory tachycardia, Corneal scarring, Recurrent cornea... OMIM:256800
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Hurler Syndrome
Hearing impairment, Recurrent otitis media, Heparan sulfate excretion in urine, Urinary glycosami... OMIM:607014
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Brittle Cornea Syndrome 1
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness OMIM:229200
Peroxisome Biogenesis Disorder 1A (Zellweger)
Low-set ears, Cataract, Abnormal helix morphology, Hypospadias, Aminoaciduria, Hearing impairment... OMIM:214100
Chromosome 6Pter-P24 Deletion Syndrome
Low-set ears, Peters anomaly, Axenfeld anomaly, Sensorineural hearing impairment, Posterior embry... OMIM:612582
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Galactosemia I
Aminoaciduria, Galactosuria, Increased level of galactitol in red blood cells, Cataract, Increase... OMIM:230400
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Astigmat... OMIM:242900
Mucolipidosis Iii Alpha/Beta
Mucopolysacchariduria, Opacification of the corneal stroma, Increased serum beta-hexosaminidase, ... OMIM:252600
Galloway-Mowat Syndrome 1
Low-set ears, Cataract, Focal segmental glomerulosclerosis, Hypoalbuminemia, Optic atrophy, Hypop... OMIM:251300
Stimmler Syndrome
Aminoaciduria ORPHA:3199
Familial Hyperaldosteronism Type Iii
Hypokalemia, Hypercalciuria ORPHA:251274
Gomez-Lopez-Hernandez Syndrome
Low-set ears, Opacification of the corneal stroma, Posteriorly rotated ears OMIM:601853
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Generalized edema, Stage 5 chronic kidney disease, Podocy... OMIM:619155
Carpenter Syndrome 1
Low-set ears, Optic atrophy, Microcornea, Conductive hearing impairment, Hydroureter, Sensorineur... OMIM:201000
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Nephrotic syndrome, Lymphedema ORPHA:69061
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... ORPHA:567548
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Abnormal auditory evoked pote... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Abnormal auditory evoked pote... ORPHA:529799
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Wilson Disease
Aminoaciduria, Hypouricemia, Hypoalbuminemia, Sunflower cataract, Glycosuria, Edema, Kayser-Fleis... OMIM:277900
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma, Optic disc coloboma OMIM:169550
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Cataract, Anterior lenticonus, Thickened glomerular basement membrane, Glomerular ba... OMIM:308940
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Anterior lenticonus, Glomerular basement membrane lamella... OMIM:301050
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias OMIM:201910
Lathosterolosis
Cataract, Microcornea, Hearing impairment, Horseshoe kidney, Hypoplasia of penis, Opacification o... ORPHA:46059
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Absent brai... OMIM:617519
Nephronophthisis 4
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... OMIM:606966
Bietti Crystalline Dystrophy
Crystalline corneal dystrophy ORPHA:41751
Hypercholesterolemia, Familial, 3
Corneal arcus, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Fuchs Heterochromic Iridocyclitis
Cataract, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, Optic disc pallor, Pa... ORPHA:263479
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting OMIM:613743
Al-Gazali Syndrome
Hydronephrosis, Sclerocornea, Polyhydramnios, Corneal opacity OMIM:609465
Wagro Syndrome
Cataract, Aniridia, Nephroblastoma, Proteinuria, Corneal opacity OMIM:612469
Early-Onset Familial Hypoaldosteronism
Renal sodium wasting, Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level ORPHA:556030
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria, Cataract, Hyperornithinemia, Subcapsular cataract ORPHA:414
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, Hy... ORPHA:656
Multiple Sulfatase Deficiency
Cataract, Optic atrophy, Abnormality of peripheral nerve conduction, Sensorineural hearing impair... ORPHA:585
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... OMIM:104200
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hydroxyprolinuria, Hyperuricemia, Hydroxyprolinemia, Hypercalciuria, Increased... OMIM:239000
Multiple Sulfatase Deficiency
Periorbital edema, Mucopolysacchariduria, Corneal opacity OMIM:272200
Schimmelpenning-Feuerstein-Mims Syndrome
Horseshoe kidney, Hypophosphatemic rickets, Hyperphosphaturia, Corneal opacity OMIM:163200
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Cutis Laxa, Autosomal Recessive, Type Iiia
Low-set ears, Cataract, Hypoornithinemia, Hyperammonemia, Low plasma citrulline, Hypoargininemia,... OMIM:219150
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Hurler-Scheie Syndrome
Sensorineural hearing impairment, Abnormal nerve conduction velocity, Corneal opacity ORPHA:93476
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Hurler-Scheie Syndrome
Heparan sulfate excretion in urine, Dermatan sulfate excretion in urine, Corneal opacity OMIM:607015
Metaphyseal Chondrodysplasia, Jansen Type
Nephrocalcinosis, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Hypercalcemia OMIM:156400
Senior-Loken Syndrome 1
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:266900
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis, Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Microphthalmia/Coloboma 12
Vesicoureteral reflux, Peters anomaly, Corneal opacity OMIM:120200
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Hyperbilirubinemia, Punctate keratitis, Renal Fanconi syndrome, Hyperc... OMIM:557000
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia OMIM:144010
Xeroderma Pigmentosum
Aminoaciduria, Cataract, Optic atrophy, Keratitis, Hearing impairment, Pterygium, Sensorineural h... ORPHA:910
Phacoanaphylactic Uveitis
Anterior chamber flare grade 1+, Macular edema, Hypopyon, Posterior synechiae of the anterior cha... ORPHA:209959
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Senior-Loken Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis OMIM:606995
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia OMIM:614736
Fucosidosis
Mucopolysacchariduria, Corneal opacity ORPHA:349
Hypercholesterolemia, Familial, 1
Increased LDL cholesterol concentration, Corneal arcus OMIM:143890
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Tinnitus, Opacification of the corneal stroma, Vertigo, Hearing impairment ORPHA:79280
Mucopolysaccharidosis Type 3
Cataract, Optic atrophy, Conductive hearing impairment, Hearing impairment, Heparan sulfate excre... ORPHA:581
Mucolipidosis Type Iii Alpha/Beta
Keratan sulfate excretion in urine, Oligosacchariduria, Corneal opacity ORPHA:423461
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Leber Congenital Amaurosis 2
Cataract, Keratoconus OMIM:204100
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypophosphaturia, Hypocalciuria ORPHA:73223
Erythrokeratodermia Variabilis
Protruding ear, Cataract, Hearing impairment, Corneal opacity ORPHA:317
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Usher Syndrome Type 1
Iris hypopigmentation, Cataract, Vestibular hypofunction, Sensorineural hearing impairment, Abnor... ORPHA:231169
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi... OMIM:602588
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Polyuria, Megacystis OMIM:125800
Cockayne Syndrome B
Optic atrophy, Microcornea, Abnormal auditory evoked potentials, Hypoplasia of the iris, Decrease... OMIM:133540
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Polyuria, Megacystis OMIM:304800
Primary Hyperoxaluria
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Stage 5 chronic kid... ORPHA:416
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Peroxisome Biogenesis Disorder 5A (Zellweger)
Low-set ears, Cataract, Abnormal helix morphology, Optic atrophy, Hearing impairment, Elevated ci... OMIM:614866
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E... OMIM:174000
Bardet-Biedl Syndrome 17
Micropenis, Renal cyst, Stage 5 chronic kidney disease, Polyuria OMIM:615994
Dermatitis, Atopic
Conjunctivitis, Keratoconus, Cataract OMIM:603165
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cataract, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased urinary potassium, Reduced circulating cortisol-binding globulin concentra... OMIM:611489
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria OMIM:615398
Mohr-Tranebjaerg Syndrome
Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, Abnorma... ORPHA:52368
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Micropenis, Oligohydramnios, Decreased corneal thickness ORPHA:293967
Intermediate Uveitis
Tubulointerstitial nephritis, Cataract, Band keratopathy, Posterior synechiae of the anterior cha... ORPHA:279914
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating N,N-dimethylglycine concentration, Elevated circulating creatine kinase conc... OMIM:605850
Nail-Patella Syndrome
Keratoconus, Microcornea, Cataract, Renal insufficiency, Hematuria, Proteinuria, Microphakia, Glo... OMIM:161200
Neuhauser Syndrome
Cupped ear, Hypoplasia of the iris, Megalocornea, Large fleshy ears, Iridodonesis, Hypercholester... OMIM:249310
Mosaic Trisomy 1
Low-set ears, Renal cortical cysts, Penile hypospadias, Renal cyst, Micropenis, Opacification of ... ORPHA:1692
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Renal sodium wasting, Increased circulating renin level ORPHA:556037
Noonan Syndrome 9
Hydroureter, Prominent corneal nerve fibers OMIM:616559
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Myopic astigmatism, Lymphedema, Astigmatism, Corneal opacity OMIM:152950
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... OMIM:220150
Diarrhea 10, Protein-Losing Enteropathy Type
Low-set ears, Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Polyuria, Hypertriglyc... OMIM:618183
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Absent internal auditory canal, Hypoplasia of the cochlea, Profound sensorineural hearing impairm... OMIM:620469
Cockayne Syndrome A
Cataract, Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity... OMIM:216400
Hereditary Acrokeratotic Poikiloderma
Abnormality of the urethra, Hearing impairment, Keratoconjunctivitis, Abnormal renal tubule morph... ORPHA:2907
Fish-Eye Disease
Corneal opacity, Decreased HDL cholesterol concentration ORPHA:79292
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Anasarca, Elevated circulating creatinine concentration, Proteinuria, Hem... OMIM:123550
Cockayne Syndrome Type 1
Cataract, Optic atrophy, Hearing impairment, Renal insufficiency, Abnormality of peripheral nerve... ORPHA:90321
Familial Dysautonomia
Abnormal pupil morphology, Renal insufficiency, Hyponatremia, Heterochromia iridis, Glomerulopath... ORPHA:1764
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Congenital nephrotic syndrome, Renal insufficiency, Hyperlipidemia, Proteinuria,... OMIM:256300
Adrenal Hypoplasia, Congenital
Hyponatremia, Renal salt wasting, Dehydration OMIM:300200
Teratoma, Pineal
Polyuria OMIM:273120
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration OMIM:613153
Leber Congenital Amaurosis
Cataract, Keratoconus ORPHA:65
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Congenital Sialidosis Type 2
Cataract, Ascites, Abnormality of the kidney, Corneal opacity, Developmental cataract, Edema ORPHA:93400
Sympathetic Ophthalmia
Cataract, Anterior chamber cells, Posterior synechiae of the anterior chamber, Hearing impairment... ORPHA:79098
Familial Hypoaldosteronism
Hyponatremia, Decreased urinary potassium, Proximal renal tubular acidosis, Renal salt wasting, H... ORPHA:427
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis OMIM:204690
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Hypouricemia, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria, Hypoph... OMIM:616026
Arima Syndrome
Optic atrophy, Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria,... OMIM:243910
Multiple Endocrine Neoplasia Type 2
Elevated urinary norepinephrine level, Prominent corneal nerve fibers, Elevated urinary vanillylm... ORPHA:653
Lassa Fever
Conjunctivitis, Oliguria, Hearing impairment ORPHA:99824
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Cataract, Nephrocalcinosis, Hypercalciuria, Polyhydramnios, Renal dysplasia OMIM:300990
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria ORPHA:33574
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... OMIM:618913
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Hy... ORPHA:567546
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Decreased HDL cholesterol concentration,... ORPHA:85450
Hypophosphatemic Rickets, Autosomal Recessive, 2
Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperphosphaturia OMIM:613312
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Astigmatism, Renal cyst, Hypercalciuria, Hyp... ORPHA:369837
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Aminoaciduria, Catarac... ORPHA:534
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Renal insufficiency, Decreased circulating renin level, Hypokalemia, Abnormal u... ORPHA:320
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... OMIM:612925
Alagille Syndrome 1
Low-set ears, Cataract, Microcornea, Band keratopathy, Focal segmental glomerulosclerosis, Renal ... OMIM:118450
Leber Congenital Amaurosis 8
Cataract, Keratoconus OMIM:613835
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Hyperuri... ORPHA:411536
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity, Renal hypoplasia/aplasia ORPHA:1234
Mucopolysaccharidosis Type 4
Mucopolysacchariduria, Corneal opacity ORPHA:582
Bartsocas-Papas Syndrome 2
Axillary pterygium, Low-set ears, Popliteal pterygium, Corneal opacity, Antecubital pterygium, Ov... OMIM:619339
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hyperammonemia ORPHA:664
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Vesicoureteral reflux, Polyhydramnios, Astigmatism, Elevated circulating creatine kinase concentr... OMIM:301056
Cranioectodermal Dysplasia 1
Low-set ears, Chronic kidney disease, Renal magnesium wasting, Stage 1 chronic kidney disease, St... OMIM:218330
Juvenile Sialidosis Type 2
Low-set ears, Cataract, Optic atrophy, Hearing impairment, Abnormality of the kidney, Corneal opa... ORPHA:93399
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 chron... ORPHA:1830
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia, Polyuria, Nephrolithiasis OMIM:617994
Harel-Yoon Syndrome
Developmental cataract, Corneal opacity OMIM:617183
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren... ORPHA:99845
Progeria-Short Stature-Pigmented Nevi Syndrome
Cataract, Band keratopathy, Progressive sensorineural hearing impairment, Micropenis, Hypospadias ORPHA:2959
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612926
Microtriplication 11Q24.1
Keratoconus, Hyperlipidemia ORPHA:289522
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Oculoectodermal Syndrome
Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal dermoid, Bladder exstrophy OMIM:600268
Alpha-Mannosidosis
Cataract, Abnormal helix morphology, Hearing impairment, Corneal opacity, Chronic otitis media, M... ORPHA:61
Brittle Cornea Syndrome
Corneal scarring, Decreased corneal thickness, Corneal dystrophy, Corneal erosion, Keratoglobus ORPHA:90354
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Renal steatosis... ORPHA:412
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612924
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge... ORPHA:84081
Lipodystrophy, Familial Partial, Type 7
Low-set ears, Cataract, Tinnitus, Hypercholesterolemia, Polyuria, Developmental cataract, Hypertr... OMIM:606721
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Keratoconus, Increased serum bile acid concentration, Conjunctivitis, Decreased ... OMIM:242150
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Posterior synechiae of t... ORPHA:364055
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis, Developmental cataract, Corneal opacity OMIM:616603
Fabry Disease
Nephropathy, Cataract, Abnormal circulating lipid concentration, Lymphedema, Renal insufficiency,... ORPHA:324
Papillorenal Syndrome
Chronic kidney disease, Cataract, Multicystic kidney dysplasia, Renal hypoplasia, Lens luxation, ... OMIM:120330
Mucopolysaccharidosis, Type Vii
Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Dermatan sulfate excreti... OMIM:253220
Arthrogryposis, Distal, Type 5
Keratoconus, Astigmatism, Keratoglobus OMIM:108145
3Mc Syndrome 3
Hearing impairment, Auricular pit, Horseshoe kidney, Penoscrotal hypospadias, Corneal opacity, Mi... OMIM:248340
Sanjad-Sakati Syndrome
Hyperphosphatemia, Astigmatism, Hypocalcemia, Corneal opacity, Hypoplasia of penis ORPHA:2323
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Megalocornea, Recurrent otitis media, Mucopolysacchariduria,... OMIM:252500
H Syndrome
Hearing impairment, Abnormality of the kidney, Hypertriglyceridemia, Micropenis, Corneal arcus, E... ORPHA:168569
Alagille Syndrome
Keratoconus, Abnormality of the ureter, Abnormal pupil morphology, Renal hypoplasia/aplasia, Neph... ORPHA:52
Congenital Rubella Syndrome
Sensorineural hearing impairment, Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:290
Greig Cephalopolysyndactyly Syndrome
Keratoconus, Hypospadias OMIM:175700
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Hypoargininemia ORPHA:23
Reni Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ... OMIM:617575
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... ORPHA:99880
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Band keratopathy, Anterior chamber synechiae ORPHA:85410
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Recurrent otitis media, Corneal opacity, Conjunctivitis, Posteriorly rotated ears, Mic... OMIM:602562
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hyperphosphaturia, Hypocalcemia ORPHA:89937
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Hearing impairment, Protruding ear, Keratoconjunctivitis sicca, Sclerocorn... ORPHA:1806
Zellweger Syndrome
Cataract, Multicystic kidney dysplasia, Hydronephrosis, Posterior embryotoxon, Corneal opacity, B... ORPHA:912
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis, Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Sensorineural he... OMIM:619351
Agel Amyloidosis
Cataract, Xerostomia, Stage 5 chronic kidney disease, Blepharochalasis, Proteinuria, Keratoconjun... ORPHA:85448
Bartsocas-Papas Syndrome 1
Axillary pterygium, Low-set ears, Popliteal pterygium, Cupped ear, Pterygium, Ectopic kidney, Mic... OMIM:263650
Parathyroid Carcinoma
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... ORPHA:143
Farber Disease
Opacification of the corneal stroma, Abnormal conjunctiva morphology, Corneal opacity ORPHA:333
Pseudohypoparathyroidism Type 1A
Cataract, Band keratopathy, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administrat... ORPHA:79443
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Nephrocalcinosis, Hyperphosphatemia, Decreased renal tubular phosphate excretion, Increased renal... OMIM:211900
Walker-Warburg Syndrome
Cataract, Microcornea, Abnormal circulating creatine kinase concentration, Corneal opacity, Hypop... ORPHA:899
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Underdeveloped tragus, Ove... ORPHA:50815
Cockayne Syndrome
Lentiglobus, Urinary incontinence, Optic disc pallor, Nephrotic syndrome, Corneal ulceration, Cat... ORPHA:191
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Corneal opacity, Sclerocornea, Hypoplasia of penis ORPHA:284160
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Hearing impairment, Sclerocornea, Hypoplasia of penis, Hypospadias ORPHA:77298
Melkersson-Rosenthal Syndrome
Periorbital edema, Oligosacchariduria, Edema ORPHA:2483
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Fryns Syndrome
Low-set ears, Abnormal helix morphology, Renal agenesis, Hydronephrosis, Renal cyst, Aganglionic ... OMIM:229850
Lowry-Maclean Syndrome
Hypospadias, Corneal opacity, Developmental glaucoma, Megalocornea ORPHA:2409
Sitosterolemia 1
Hyperapobetalipoproteinemia, Reduced haptoglobin level, Elevated circulating sitosterol concentra... OMIM:210250
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Increased urinary potassium, Decreased circulating renin level ORPHA:231580
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Short Syndrome
Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ... ORPHA:3163
Microphthalmia/Coloboma 9
Low-set ears, Microcornea, Ocular anterior segment dysgenesis, Sclerocornea, Iris coloboma, Macrotia OMIM:615145
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Optic atrophy, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinur... ORPHA:436271
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Abnormality of the urinary system, Ureteral stenosis, Ocular alb... ORPHA:2719
Mietens Syndrome
Sclerocornea, Cataract, Microcornea, Corneal opacity ORPHA:2557
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Hypoalbuminemia, Anasarca, Renal insufficiency, ... OMIM:254900
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Optic nerve dysplasia, Elevated circulating creatine kinase concent... OMIM:615287
Mosaic Trisomy 8
Hearing impairment, Vesicoureteral reflux, Abnormal antihelix morphology, Protruding ear, Hydrone... ORPHA:96061
Pierson Syndrome
Cataract, Hyperechogenic kidneys, Hypoplasia of the iris, Stage 5 chronic kidney disease, Oligohy... OMIM:609049
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Urinary incontinence, EEG abnormality ORPHA:206448
Mucopolysaccharidosis Type 1
Mucopolysacchariduria, Corneal opacity ORPHA:579
Mosaic Trisomy 9
Horseshoe kidney, Oligohydramnios, Hydronephrosis, Multiple renal cysts, Corneal opacity, Polyhyd... ORPHA:99776
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Penoscrotal hypospadias, Renal salt wasting, Hyperkalemia, Hypospadias, Dehydration... ORPHA:90791
Cystic Fibrosis
Hypercalciuria, Dehydration OMIM:219700
Fryns Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Corneal opacity, Polyhydramn... ORPHA:2059
Knobloch Syndrome 1
Duplicated collecting system, Band keratopathy, Bifid ureter, Peripapillary atrophy, Renal duplic... OMIM:267750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Optic atrophy, Megalocornea, Elevated circulating creatine kinase concentration, Enlarg... OMIM:253280
Familial Glucocorticoid Deficiency
Hypernatriuria, Recurrent urinary tract infections, Hyponatremia, Renal salt wasting, Hyperkalemia ORPHA:361
Stuve-Wiedemann Syndrome 1
Low-set ears, Opacification of the corneal stroma, Abnormal autonomic nervous system physiology OMIM:601559
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Increased urinary potassium, Decreased circulating renin level ORPHA:231625
Oncogenic Osteomalacia
Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Hypocalcemia ORPHA:352540
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Congenital Disorder Of Deglycosylation 1
Chondroitin sulfate excretion in urine, Keratan sulfate excretion in urine, Heparan sulfate excre... OMIM:615273
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Hydronephrosis, Sclerocornea, Pelvic kidney, Limbal dermoid OMIM:613001
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Ectopia pupillae, Sclerocornea, Hypospadias OMIM:615877
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Optic atrophy, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Sensorine... OMIM:220110
Leber Congenital Amaurosis 9
Keratoconus OMIM:608553
Gapo Syndrome
Palpebral edema, Keratoconus, Nephrolithiasis ORPHA:2067
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Absent brainstem auditory ... ORPHA:101085
Acute Monoblastic/Monocytic Leukemia
Oliguria, Progressive hearing impairment ORPHA:514
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Hypophosphatemic rickets, Renal tubular dysfunction, Hypophosphatemia, A... OMIM:307800
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Urinary retention, Recurrent urinary tract infections, Auton... ORPHA:99027
Stromme Syndrome
Cataract, Microcornea, Peters anomaly, Bilateral renal hypoplasia, Hydronephrosis, Sclerocornea, ... OMIM:243605
Histiocytosis-Lymphadenopathy Plus Syndrome
Micropenis, Corneal arcus, Hearing impairment, Sensorineural hearing impairment OMIM:602782
Hereditary Orotic Aciduria
Aminoaciduria, Abnormality of the ureter, Oroticaciduria, Orotic acid crystalluria ORPHA:30
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... OMIM:609136
Lacrimoauriculodentodigital Syndrome
Renal hypoplasia, Xerostomia, Vesicoureteral reflux, Limbal stem cell deficiency, Corneal neovasc... ORPHA:2363
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Blau Syndrome
Cataract, Band keratopathy, Abnormal cranial nerve morphology, Abnormality of the ear, Iritis OMIM:186580
Hurler Syndrome
Mucopolysacchariduria, Corneal opacity ORPHA:93473
Mucolipidosis Type Iv
EEG abnormality, Corneal opacity ORPHA:578
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Keratoconus, Microcornea, I... OMIM:225400
Waardenburg Syndrome, Type 2E
Iris hypopigmentation, Hypoplasia of the iris, Ocular albinism, Aplasia of the semicircular canal... OMIM:611584
Cholera
Acute kidney injury, Hypocalcemia, Hypokalemia, Hyponatremia, Decreased urine output, Abnormal bl... ORPHA:173
Sarcoidosis
Cataract, Nephrocalcinosis, Chylothorax, Renal insufficiency, Pleural effusion, Joint swelling, N... ORPHA:797
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Mend Syndrome
Low-set ears, Cataract, Abnormal auditory evoked potentials, Elevated 8(9)-cholestenol, Elevated ... ORPHA:401973
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Oligohydramnios, Polyhydramnios, Astigmatism, Hydronephro... ORPHA:464311
Williams Syndrome
Megalocornea, Posterior embryotoxon, Periorbital edema, Flat cornea, Cataract, Renal insufficienc... ORPHA:904
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Cataract, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hypocalcemia,... OMIM:617913
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Distal Deletion 6P
Low-set ears, Hearing impairment, Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon... ORPHA:96125
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Keratitis, Hearing impairment, Renal age... OMIM:308205
Neurotrophic Keratopathy
Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e... ORPHA:137596
Zttk Syndrome
Low-set ears, Unilateral renal agenesis, Optic atrophy, Horseshoe kidney, Protruding ear, Polyuria OMIM:617140
Microphthalmia With Brain And Digit Anomalies
Sclerocornea, Cataract, Microcornea, Iris coloboma ORPHA:139471
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Renal hypophosphatemia, Hypophosphatemic rickets, Hyperphosphaturia, Sen... ORPHA:289176
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Low-molecular-weight proteinuria, Corne... OMIM:309000
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy OMIM:616881
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... ORPHA:91495
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Long penis, Decreased circulating renin level, Hy... ORPHA:90795
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Peters anomaly, Megalocornea, Elevated circulating creatine kinase concentration, Corne... OMIM:236670
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Abnormal ur... ORPHA:168558
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus ORPHA:401777
Opsismodysplasia
Renal phosphate wasting, Oligohydramnios, Hypophosphatemia, Polyhydramnios, Edema OMIM:258480
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Hypercalciuria, Pleural effusion OMIM:181000
Nasopalpebral Lipoma-Coloboma Syndrome
Low-set ears, Cataract, Cupped ear, Abnormality of cartilage of external ear, Conjunctival hypere... ORPHA:2399
Acute Adrenal Insufficiency
Renal insufficiency, Hyperuricemia, Hyponatremia, Decreased urinary potassium, Renal salt wasting... ORPHA:95409
Tbck-Related Intellectual Disability Syndrome
Oligohydramnios, Neurogenic bladder, Abnormal circulating lipid concentration, Corneal opacity ORPHA:488632
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Abnormal ur... ORPHA:289548
Lysosomal Acid Lipase Deficiency
Hypernatriuria, Abnormal urine potassium concentration, Ascites, Hyponatremia, Hypercholesterolem... ORPHA:275761
Alpha-Mannosidosis, Infantile Form
Cataract, Oligosacchariduria, Recurrent urinary tract infections, Astigmatism, Corneal opacity ORPHA:309282
Leprechaunism
Nephrocalcinosis, Long penis, Hypokalemia, Hypercalciuria, Enlarged kidney, Increased circulating... ORPHA:508
Autoimmune Polyendocrine Syndrome, Type Ii
Keratoconjunctivitis, Band keratopathy, Cataract OMIM:269200
Mosaic Variegated Aneuploidy Syndrome
Cataract, Multicystic kidney dysplasia, Ascites, Increased nuchal translucency, Nephroblastoma, C... ORPHA:1052
Scheie Syndrome
Corneal opacity OMIM:607016
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:159
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Ectopia lentis, Hypoplasia of the iris, Horseshoe kidney, Renal hyp... ORPHA:2092
Car T Cell Therapy-Associated Cytokine Release Syndrome
Decreased urine output, Elevated circulating creatinine concentration, Acute kidney injury, Hyper... ORPHA:542323
Histiocytoid Cardiomyopathy
Megalocornea, Pulmonary edema, Renal cyst, Corneal opacity, Congenital aphakia ORPHA:137675
Oculocerebrocutaneous Syndrome
Iris coloboma, Corneal opacity ORPHA:1647
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
Mucopolysaccharidosis, Type Vi
Dermatan sulfate excretion in urine, Corneal opacity OMIM:253200
Beckwith-Wiedemann Syndrome
Nephropathy, Vesicoureteral reflux, Nephroblastoma, Nephrolithiasis, Hypercalciuria, Multiple ren... ORPHA:116
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Oligohydramnios, Astigmatism, Hydronephrosis, Renal cyst,... ORPHA:464306
Colchicine Poisoning
Oliguria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosp... ORPHA:31824
Renal Tubular Dysgenesis
Abnormality of the urinary system, Renotubular dysgenesis, Anuria OMIM:267430
Warburg-Cinotti Syndrome
Symblepharon, Limbal stem cell deficiency, Corneal neovascularization, Joint swelling, Decreased ... OMIM:618175
Histidinemia
Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia OMIM:235800
Fructose Intolerance, Hereditary
Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Hyperbilirubinemia, Hyperphosphaturia,... OMIM:229600
Hepatoerythropoietic Porphyria
Red-brown urine, Purple urine, Abnormal circulating porphyrin concentration, Red urine, Nonimmune... ORPHA:95159
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnormality of the... ORPHA:171929
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elevated circul... ORPHA:340
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Ethylene Glycol Poisoning
Renal insufficiency, Hypocalcemia, Renal tubular dysfunction, Hematuria, Decreased urine output, ... ORPHA:31826
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... ORPHA:909
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Renal insufficiency, Oliguria ORPHA:188
Neurocardiofaciodigital Syndrome
Cataract, Hearing impairment, Vesicoureteral reflux, Sclerocornea, Optic disc pallor OMIM:619869
Duplication Of Urethra
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... ORPHA:237
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Oculoauricular Syndrome
Low-set ears, Cataract, Microcornea, Nasolacrimal duct obstruction, Posterior synechiae of the an... OMIM:612109
Costello Syndrome
Polyhydramnios, Keratoconus ORPHA:3071
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Hypotriglyceridemia, Corneal opacity, Ectopia pupillae ORPHA:85167
Osteogenesis Imperfecta
Hypercalciuria, Corneal opacity, Nephrolithiasis ORPHA:666
Chromosome 8Q21.11 Deletion Syndrome
Micropenis, Cataract, Sclerocornea OMIM:614230
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Incre... OMIM:235400
Gapo Syndrome
Keratoconus, Shallow anterior chamber, Tubulointerstitial fibrosis, Megalocornea OMIM:230740
Kanzaki Disease
Aminoaciduria, Tortuosity of conjunctival vessels, Increased urinary O-linked sialopeptides, Lymp... OMIM:609242
Gm1 Gangliosidosis
Hydrops fetalis, Corneal opacity ORPHA:354
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus ORPHA:542306
Wilson Disease
Joint swelling, Kayser-Fleischer ring ORPHA:905
Thrombocytopenia-Absent Radius Syndrome
Cataract, Dilatation of the renal pelvis, Horseshoe kidney, Vesicoureteral reflux, Edema of the d... OMIM:274000
Roberts-Sc Phocomelia Syndrome
Low-set ears, Cataract, Hypospadias, Long penis, Horseshoe kidney, Polycystic kidney dysplasia, C... OMIM:268300
Microscopic Polyangiitis
Hematuria, Glomerulopathy, Oliguria, Renal insufficiency ORPHA:727
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Polyhydramnios, Pericardial effusion, Corneal opacity OMIM:620519
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Cataract, Macular edema, Posterior synechiae of the anterior chamber, Sterile pyur... ORPHA:91500
Histidinemia
Histidinuria, Hyperhistidinemia ORPHA:2157
Williams-Beuren Syndrome
Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Hypercalcemia, Renal arte... OMIM:194050
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Recurrent otitis media, Punctate opacification of the co... OMIM:256040
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Cataract, Peters anomaly, Chordee, Sclerocornea, Micropenis, Iris coloboma OMIM:309801
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Urinary retention, Hypomagnesemia, Decreased urinary potassium, Transient h... ORPHA:79102
Gaucher Disease
Increased circulating ferritin concentration, Hematuria, Proteinuria, Corneal opacity, Decreased ... ORPHA:355
Multiple Endocrine Neoplasia Type 1
Hypercalciuria, Hypercalcemia, Dehydration, Nephrolithiasis ORPHA:652
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Renal cyst, Keratoconjunctivitis sicca, Corneal opacity, Buphthalmos, Hypospadias, Corneal dystrophy ORPHA:495875
3Q29 Microduplication Syndrome
Sclerocornea, Cataract, Aniridia, Iris coloboma ORPHA:251038
Meckel Syndrome
Cataract, Microcornea, Multicystic kidney dysplasia, Oligohydramnios, Aplasia/Hypoplasia of the i... ORPHA:564
Mccune-Albright Syndrome
Renal phosphate wasting, Hearing impairment, Hyperphosphaturia, Renal tubular dysfunction, Hypoph... ORPHA:562
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Renal insufficiency ORPHA:220393
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Astigmatism ORPHA:2095
Kindler Epidermolysis Bullosa
Neoplasm of the urethra, Phimosis, Urethral stricture, Corneal opacity, Conjunctivitis ORPHA:2908
Noonan Syndrome 10
Low-set ears, Prominent corneal nerve fibers OMIM:616564
Addison Disease
Hyperuricemia, Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Hyper... ORPHA:85138
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hypokalemia, Hyponatr... ORPHA:90038
Gitelman Syndrome
Focal segmental glomerulosclerosis, Hypermagnesemia, Enuresis, Hypomagnesemia, Pericardial effusi... ORPHA:358
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Sens... ORPHA:79330
Mucopolysaccharidosis Type 2, Severe Form
Heparan sulfate excretion in urine, Dermatan sulfate excretion in urine, Corneal opacity ORPHA:217085
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Oliguria, Anuria, Hypocalcemia, Hyponatremia, Decreased urine output, Nephro... ORPHA:544482
Mucopolysaccharidosis Type 2, Attenuated Form
Heparan sulfate excretion in urine, Dermatan sulfate excretion in urine, Corneal opacity ORPHA:217093
Chime Syndrome
Hydronephrosis, Abnormality of the kidney, Corneal opacity ORPHA:3474
Angelman Syndrome
Iris hypopigmentation, Keratoconus, Astigmatism ORPHA:72
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Oligohydramnios, Corneal opacity ORPHA:364577
Proboscis Lateralis
Unilateral renal agenesis, Microcornea, Cataract, Duplication of renal pelvis, Ureteral agenesis,... ORPHA:141099
Gaisböck Syndrome
Nephrocalcinosis, Hypernatriuria, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hype... ORPHA:90041
Ablepharon Macrostomia Syndrome
Atresia of the external auditory canal, Hearing impairment, Corneal opacity, Hypoplasia of penis,... ORPHA:920
Down Syndrome
Keratoconus, Cataract, Renal hypoplasia/aplasia ORPHA:870
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Long penis, Hyperkalemia, Hypernatriuria, Hyponatremia, Urogenital sinus anomaly, Renal salt wast... ORPHA:90794
Tangier Disease
Hypocholesterolemia, Corneal opacity, Hypertriglyceridemia ORPHA:31150
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity OMIM:601812
Retinitis Pigmentosa
Keratoconus, Posterior subcapsular cataract ORPHA:791
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Corneal opacity, Ectopia pupillae OMIM:608940
Peters Plus Syndrome
Iris coloboma, Multicystic kidney dysplasia, Cataract, Microcornea, Peters anomaly, Renal duplica... ORPHA:709
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Corneal opacity ORPHA:79396
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Pyelonephritis, Bladder diverticulum, Developmental cataract, Corneal ... ORPHA:90348
Microphthalmia, Syndromic 3
Micropenis, Cataract, Sclerocornea, Hypospadias OMIM:206900
Lujo Hemorrhagic Fever
Elevated circulating C-reactive protein concentration, Microscopic hematuria, Oliguria, Renal ins... ORPHA:319213
De Barsy Syndrome
Cataract, Corneal opacity ORPHA:2962
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Posterior embryotoxon, Corneal opacity, Sclerocornea, Hypospadias, Epi... ORPHA:2556
Arterial Tortuosity Syndrome
Keratoconus, Astigmatism OMIM:208050
Incontinentia Pigmenti
Cataract, Keratitis, Corneal opacity ORPHA:464
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Megalocornea, Lymphedema, Corneal opacity, Iris coloboma ORPHA:536471
Limb Body Wall Complex
Lens subluxation, Iris coloboma, Abnormality of the kidney, Corneal opacity ORPHA:2369
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Ectopia pupillae, Hypoplasia of the iris, Astigmatism, Corneal neovascularization, E... OMIM:175780
Smith-Lemli-Opitz Syndrome
Abnormal localization of kidney, Multicystic kidney dysplasia, Cataract, Iris coloboma, Increased... ORPHA:818
Autosomal Recessive Polycystic Kidney Disease
Low-set ears, Acute kidney injury, Oliguria, Recurrent urinary tract infections, Reduced renal co... ORPHA:731
Sepsis In Premature Infants
Elevated circulating C-reactive protein concentration, Oliguria, Reversible renal failure ORPHA:90051
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Keratitis, Astigmatism, Hydronephrosis, Abnormality of the upper urinary tract, Abno... ORPHA:2273
Norrie Disease
Cataract, Abnormal helix morphology, Optic atrophy, Ectopia lentis, Hypoplasia of the iris, Abnor... ORPHA:649
Moebius Syndrome
Corneal opacity ORPHA:570
Arterial Tortuosity Syndrome
Keratoconus, Keratoglobus ORPHA:3342
Wolf-Hirschhorn Syndrome
Hypospadias, Abnormality of the urinary system, Megalocornea, Abnormality of the kidney, Scleroco... ORPHA:280
Neurofibromatosis Type 1
Cataract, Heterochromia iridis, Abnormality of the upper urinary tract, Lisch nodules, Corneal op... ORPHA:636
Cardiogenic Shock
Vertigo, Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Van Den Ende-Gupta Syndrome
Sclerocornea, Dilatation of the renal pelvis OMIM:600920
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria, Hyperphosphatemia, Vertigo, Hypocalcemia, Elevated circulating cre... ORPHA:466650
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
Encephalocraniocutaneous Lipomatosis
Iris coloboma, Corneal opacity ORPHA:2396
Fraser Syndrome 1
Renal hypoplasia, Renal hypoplasia/aplasia, Corneal opacity, Micropenis, Hypospadias OMIM:219000
Yunis-Varon Syndrome
Cataract, Renal artery stenosis, Increased nuchal translucency, Polyhydramnios, Sclerocornea, Hyd... ORPHA:3472
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Oligohydramnios, Corneal opacity OMIM:608670
Aneurysm Of Sinus Of Valsalva
Oliguria ORPHA:1054
Larsen Syndrome
Corneal opacity OMIM:150250
Phace Syndrome
Cataract, Heterochromia iridis, Sclerocornea, Lens coloboma, Iris coloboma ORPHA:42775
Digeorge Syndrome
Unilateral renal agenesis, Renal insufficiency, Hypocalcemia, Hydronephrosis, Posterior embryotox... OMIM:188400
Wiedemann-Rautenstrauch Syndrome
Cataract, Recurrent urinary tract infections, Wide penis, Vesicoureteral reflux, Hydronephrosis, ... ORPHA:3455
Mucopolysaccharidosis Type 2
Corneal opacity ORPHA:580
Generalized Arterial Calcification Of Infancy
Nephrocalcinosis, Cortical nephrocalcinosis, Ascites, Medullary nephrocalcinosis, Hypophosphatemi... ORPHA:51608
Yellow Fever
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperbilirubinemia, R... ORPHA:99829
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Corneal opacity ORPHA:2072
Microphthalmia, Syndromic 6
Sclerocornea, Renal hypoplasia, Microcornea OMIM:607932
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Cystocele, Keratoconjunctivitis sicca ORPHA:285
Hutchinson-Gilford Progeria Syndrome
Corneal ulceration, Corneal opacity ORPHA:740
Vascular Ehlers-Danlos Syndrome
Keratoconus, Cystocele, Abnormal pupil morphology, Hypokalemia, Bladder diverticulum, Renovascula... ORPHA:286
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus, Cystocele OMIM:130050
Yunis-Varon Syndrome
Cataract, Polyhydramnios, Sclerocornea, Micropenis, Hydrops fetalis, Hypospadias OMIM:216340

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 Slc4a11

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 Slc4a11.

No publications found that use IMPC mice or data for Slc4a11.

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
Slc4a11tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Slc4a11tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc4a11tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Slc4a11tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, 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