Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Slc4a11 MGI:2138987

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.

Human diseases associated with Slc4a11 (6 diseases)
Human diseases predicted to be associated with Slc4a11 (682 diseases)

The table below shows human diseases associated to Slc4a11 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Corneal Dystrophy And Perceptive Deafness	Sensorineural hearing impairment, Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Corneal Dystrophy-Perceptive Deafness Syndrome	Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy	ORPHA:1490
Fuchs Endothelial Corneal Dystrophy	Corneal opacity, Edema, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morph...	ORPHA:98974
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268

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

Disease	Matching phenotypes	Source
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Corneal Dystrophy And Perceptive Deafness	Sensorineural hearing impairment, Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Deafness, Autosomal Recessive 104	Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit...	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	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem...	ORPHA:411634
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Idiopathic Hypercalciuria	Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith...	ORPHA:2197
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal...	OMIM:613090
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos...	OMIM:308990
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemi...	OMIM:144300
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ...	ORPHA:405
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Corneal crystals, Abnormal tubulointerstitial morphology, Abnormal blood ion c...	ORPHA:411629
Galactosemia Ii	Cataract, Hypergalactosemia, Galactosuria	OMIM:230200
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	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 dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata, Edema	OMIM:610158
Hypoalphalipoproteinemia, Primary, 2	Decreased HDL cholesterol concentration, Corneal arcus, Cataract	OMIM:618463
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Corneal Dystrophy-Perceptive Deafness Syndrome	Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy	ORPHA:1490
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	OMIM:217800
Brachyolmia Type 1, Toledo Type	Increased urinary disaccharide excretion, Opacification of the corneal stroma	OMIM:271630
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ...	OMIM:245900
Fuchs Endothelial Corneal Dystrophy	Corneal opacity, Edema, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morph...	ORPHA:98974
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Cataract	OMIM:619813
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes...	OMIM:145981
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciuria	OMIM:145980
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Corneal crystals	OMIM:219750
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Hypercalcemia, Infantile, 2	Hypercalcemia, Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate...	OMIM:616963
Galactosialidosis	Corneal opacity, Hearing impairment	ORPHA:351
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium...	OMIM:618314
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria, Cataract	ORPHA:2278
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Hypercalciuria, Absorptive, 2	Hypercalciuria, Calcium oxalate nephrolithiasis	OMIM:143870
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet	Posterior corneal stroma punctiform multicolored opacities	OMIM:619871
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Hematuria, Posterior embryotoxon, Iris coloboma	ORPHA:1473
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Dent Disease 2	Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr...	OMIM:300555
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Sensorineural hearing impairment, Nephrolithiasis, Renal cyst,...	ORPHA:18
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Increased circulating renin level, Hypocalci...	OMIM:612780
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Alport Syndrome	Mesangial hypercellularity, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 deposition, Pos...	ORPHA:63
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Nephrotic syndrome, Mucopolysacchariduria, Proteinuria, Opacification of the corneal stroma	OMIM:215250
Herpes Simplex Virus Stromal Keratitis	Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ...	ORPHA:137599
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Hypercalcemia, Infantile, 1	Hypercalcemia, Polyuria, Nephrolithiasis, Hypercalciuria, Dehydration, Nephrocalcinosis, Medullar...	OMIM:143880
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Helix Syndrome	Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Xerostomia, Hypokalemia, Hypocal...	OMIM:617671
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypercalciuria, Dehydration, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis	OMIM:602722
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy	OMIM:610048
Cataract 47	Microcornea, Cataract, Glycosuria	OMIM:612018
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Hyperamylasemia, Band keratopathy, Impaired renal tubular reabsorption of bicarbonate, ...	OMIM:604278
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria	OMIM:617993
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Hyperlysinemia, Type I	Hyperlysinemia, Hyperlysinuria, Ectopia lentis	OMIM:238700
East Syndrome	Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating renin l...	ORPHA:199343
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria	ORPHA:419
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia	OMIM:612286
Leber Congenital Amaurosis 1	Keratoconus, Hyperthreoninuria, Cataract, Hyperthreoninemia	OMIM:204000
Iminoglycinuria	Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria	ORPHA:42062
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Polyhydramnios, Hypercalciuria, Hypochloremia, Hypokalemia, Increased cir...	OMIM:300971
Focal Segmental Glomerulosclerosis 6	Proteinuria, Edema, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis...	OMIM:614131
Gitelman Syndrome	Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating renin level, Hypo...	OMIM:263800
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Hyperprolinemia, Type Ii	Hydroxyprolinuria, Hyperglycinuria, Hyperprolinemia, Prolinuria	OMIM:239510
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Corneal crystals	OMIM:210370
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Preeclampsia/Eclampsia 1	Proteinuria, Edema	OMIM:189800
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol...	ORPHA:98973
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Renal salt wasting	OMIM:201710
Keratoconus Posticus Circumscriptus	Vesicoureteral reflux, Recurrent urinary tract infections, Keratoconus, Central posterior corneal...	OMIM:244600
Saccharopinuria	Citrullinuria, Elevated circulating sacchoropine concentration, Histidinuria, Saccharopinuria, Hy...	OMIM:268700
Dibasic Amino Aciduria I	Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria	OMIM:222690
Nephrotic Syndrome, Type 2	Proteinuria, Edema, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomeruloscle...	OMIM:600995
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Hypercalcemia, Renal salt wasting, ...	OMIM:601678
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re...	OMIM:613388
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Nephrocalcinosis, Hypercalciuria, Hypercalcemia, Renal tubular acidosis	OMIM:239199
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, ...	ORPHA:73224
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina...	OMIM:241200
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood...	ORPHA:94088
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Enamel-Renal Syndrome	Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En...	ORPHA:1031
Nephrotic Syndrome, Type 9	Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbum...	OMIM:615573
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Hypocalcemia, Autosomal Dominant 1	Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ...	OMIM:601198
Dent Disease	Elevated circulating creatine kinase concentration, Nephrocalcinosis, Aminoaciduria, Low-molecula...	ORPHA:1652
Sialidosis Type 2	Corneal opacity, Hydrops fetalis, Pedal edema, Nephropathy, Ascites	ORPHA:87876
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:242600
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Corneal opacity, Proteinuria, Stage 5 chronic kidney disease, Bilateral rena...	OMIM:166300
Mucolipidosis Iv	Optic atrophy, Corneal opacity, Opacification of the corneal stroma	OMIM:252650
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity	ORPHA:2432
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Mucopolysaccharidosis Type 6	Chronic otitis media, Mucopolysacchariduria, Opacification of the corneal stroma, Hearing impairment	ORPHA:583
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Hypospadias, Hydrops fetalis, Developmental cataract, Micropenis	OMIM:618815
Galactose Epimerase Deficiency	Aminoaciduria, Cataract	ORPHA:79238
Familial Isolated Hyperparathyroidism	Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos...	ORPHA:99879
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Tiglic Acidemia	Aminoaciduria	OMIM:275190
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures	ORPHA:2239
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ...	ORPHA:47159
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Corneal opacity, Proteinuria	ORPHA:1765
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Carnosinemia	Carnosinuria	OMIM:212200
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Cataract, Iris coloboma, Hearing impairment	OMIM:120433
Primary Fanconi Renotubular Syndrome	Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa...	ORPHA:3337
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Axenfeld-Rieger Syndrome, Type 2	Hypospadias, Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae, Hearin...	OMIM:601499
Carnosinase Deficiency	Carnosinuria	ORPHA:1361
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Autosomal Dominant Hypocalcemia	Optic atrophy, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia,...	ORPHA:428
Cystinosis	Renal insufficiency, Corneal opacity, Proteinuria, Dehydration, Renal tubular dysfunction, Aminoa...	ORPHA:213
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalciuria, Micropenis, Hypospadias, Hypercalcemia	OMIM:614732
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Anisocoria, R...	OMIM:613550
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Cataract, Corneal ero...	OMIM:203780
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma, Hearing impairment	OMIM:256540
Morquio Syndrome C	Corneal opacity	OMIM:252300
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Camptodactyly-Taurinuria Syndrome	Increased urinary taurine, Aminoaciduria	ORPHA:1325
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Focal Segmental Glomerulosclerosis 1	Proteinuria, Edema, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomeruloscle...	OMIM:603278
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Edema	OMIM:614652
Winchester Syndrome	Corneal opacity	OMIM:277950
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating renin level	OMIM:203400
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote...	ORPHA:320401
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Cystathioninuria	Cystathioninuria	OMIM:219500
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating renin level	OMIM:610600
Methionine Malabsorption Syndrome	Aminoaciduria, Blue irides, Positive ferric chloride test	OMIM:250900
Norrie Disease	Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Leukocoria, Hypoplasi...	OMIM:310600
Stickler Syndrome Type 2	Sensorineural hearing impairment, Cataract, Corneal opacity	ORPHA:90654
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ...	OMIM:613845
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma	OMIM:230650
Bilateral Striopallidodentate Calcinosis	Corneal opacity	ORPHA:1980
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental ...	OMIM:610725
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Atresia of the external auditory canal, Opacification of the corneal stroma	OMIM:601356
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Aminoaciduria, Increased ...	OMIM:603358
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Nephrotic Syndrome, Type 6	Proteinuria, Edema, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segm...	OMIM:614196
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Phenylketonuria	Aminoaciduria	ORPHA:716
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hyperphosphaturia, Increased circulating beta-C-terminal telopeptide concentration, Hypercalciuri...	ORPHA:157215
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Opacification of the corneal stroma	OMIM:252605
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Brushfield spots, Optic nerve dysplasia, Aminoaciduria, Opacification of the corneal st...	OMIM:214110
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Mucoepithelial Dysplasia, Hereditary	Cataract, Keratoconjunctivitis, Hematuria, Opacification of the corneal stroma, Corneal neovascul...	OMIM:158310
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Corneal opacity, Unilateral renal agenesis	ORPHA:281090
Pseudo-Torch Syndrome 1	Low-set ears, Renal insufficiency, Cataract, Opacification of the corneal stroma	OMIM:251290
Oculoskeletodental Syndrome	Renal agenesis, Hypercalcemia, Hypercalciuria, Developmental cataract, Mucopolysacchariduria, Hyp...	OMIM:618440
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N...	OMIM:300554
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cataract, Cochlear degeneration	ORPHA:3233
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Hypercalciuria, Generalized aminoaciduri...	OMIM:227810
Type 1 Diabetes Mellitus	Polyuria, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Hyperaldosteronism, Familial, Type Iii	Hypercalciuria, Hypokalemia, Polyuria, Decreased circulating renin level	OMIM:613677
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis	OMIM:222730
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia, Dehydration, Renal salt wasting	OMIM:264350
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Oliguria, Renal hypoplasia, Rena...	ORPHA:97362
Ophthalmomandibulomelic Dysplasia	Megalocornea, Opacification of the corneal stroma	OMIM:164900
Amyloidosis, Familial Visceral	Proteinuria, Edema, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Proximal tubulopathy, Polyuria, Hearing impairment	OMIM:560000
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Cataract, Corneal opacity, Increased urinary O-...	ORPHA:812
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Polyhydramnios, Hyper...	OMIM:241500
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria, Ectopia lentis	ORPHA:833
Carbamoyl-Phosphate Synthetase 1 Deficiency	Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication	ORPHA:147
Mucopolysaccharidosis, Type Ivb	Corneal opacity, Opacification of the corneal stroma, Chondroitin sulfate excretion in urine, Ker...	OMIM:253010
Usher Syndrome Type 3	Cataract, Sensorineural hearing impairment, Abnormal cochlea morphology, Astigmatism, Vestibular ...	ORPHA:231183
Hypokalemic Tubulopathy And Deafness	Increased circulating renin level, Renal salt wasting	OMIM:619406
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Edema, Chronic kidney disease, Stage 5 chronic kidney d...	OMIM:615244
Hepatic Lipase Deficiency	Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Bartter Syndrome Type 4	Hyponatremia, Polyhydramnios, Renal salt wasting, Increased urinary potassium, Impaired renal con...	ORPHA:89938
Hydroxykynureninuria	Aminoaciduria	OMIM:236800
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormally...	OMIM:109120
Keratoconus 6	Keratoconus	OMIM:614623
Keratoconus 5	Keratoconus	OMIM:614622
Keratoconus 8	Keratoconus	OMIM:614628
Keratoconus 7	Keratoconus	OMIM:614629
Fanconi-Bickel Syndrome	Hyperphosphaturia, Hypertriglyceridemia, Hypercalciuria, Generalized aminoaciduria, Hypophosphate...	ORPHA:2088
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op...	ORPHA:98957
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chloride test	OMIM:229100
Mucopolysaccharidosis, Type Iva	Hearing impairment, Chondroitin sulfate excretion in urine, Keratan sulfate excretion in urine, O...	OMIM:253000
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Abnormal pinna morphology, Band keratopathy, Vertigo, Hypoplasia of the iris, ...	OMIM:614195
Hyperglycinuria	Hyperglycinuria, Calcium oxalate nephrolithiasis	OMIM:138500
Galactosemia Iii	Aminoaciduria, Galactosuria, Hypergalactosemia	OMIM:230350
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	3-Methylglutaconic aciduria, Cataract, Corneal opacity	ORPHA:496790
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Hypercalciuria, Aminoaciduria, Hypophosph...	OMIM:239200
Mucopolysaccharidosis Type 7	Corneal opacity, Lymphedema, Hydrops fetalis, Mucopolysacchariduria, Ascites	ORPHA:584
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia	OMIM:612287
Wilson Disease	Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Proteinuria, ...	OMIM:277900
Galactosemia I	Cataract, Increased level of galactitol in plasma, Albuminuria, Aminoaciduria, Galactosuria, Incr...	OMIM:230400
Alpha-Mannosidosis, Adult Form	Cataract, Corneal opacity, Oligosacchariduria	ORPHA:309288
Scheie Syndrome	Mucopolysacchariduria, Corneal opacity	ORPHA:93474
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal tubula...	OMIM:241530
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Astigmatism, Abnormal auditory evoked potentials	OMIM:617523
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypospadias, Renal salt wasting	OMIM:201910
X-Linked Hypophosphatemia	Renal phosphate wasting, Hypocalciuria, Hypophosphatemia	ORPHA:89936
Apolipoprotein A-I Deficiency	Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Opacification ...	ORPHA:425
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Insensitivity To Pain, Congenital, With Anhidrosis	Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarring, Abnormal autonom...	OMIM:256800
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Leber Congenital Amaurosis 6	Keratoconus, Cataract	OMIM:613826
Hurler Syndrome	Corneal opacity, Heparan sulfate excretion in urine, Dermatan sulfate excretion in urine, Urinary...	OMIM:607014
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Cataract, Hypospadias, Posteriorly rotated ears, Brushfield spots, Sensorineur...	OMIM:214100
Brittle Cornea Syndrome 1	Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness	OMIM:229200
Gómez-López-Hernández Syndrome	Corneal opacity	ORPHA:1532
Chromosome 6Pter-P24 Deletion Syndrome	Posteriorly rotated ears, Sensorineural hearing impairment, Axenfeld anomaly, Opacification of th...	OMIM:612582
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Proteinuria, Optic atrophy, Hypoplasi...	OMIM:251300
Schimke Immunoosseous Dysplasia	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclero...	OMIM:242900
Gomez-Lopez-Hernandez Syndrome	Low-set ears, Posteriorly rotated ears, Opacification of the corneal stroma	OMIM:601853
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Stimmler Syndrome	Aminoaciduria	ORPHA:3199
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria	OMIM:249650
Carpenter Syndrome 1	Hydroureter, Abnormal pinna morphology, Sensorineural hearing impairment, Optic atrophy, Microcor...	OMIM:201000
Idiopathic Steroid-Sensitive Nephrotic Syndrome	Nephrotic syndrome, Lymphedema	ORPHA:69061
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ...	ORPHA:567548
Nephrotic Syndrome, Type 22	Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base...	OMIM:619155
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Chronic Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearing impairment, Abno...	ORPHA:529808
Acute Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearing impairment, Abno...	ORPHA:529799
Leiomyomatosis, Diffuse, With Alport Syndrome	High-frequency sensorineural hearing impairment, Renal insufficiency, Glomerular basement membran...	OMIM:308940
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality	OMIM:617519
Familial Hyperaldosteronism Type Iii	Hypokalemia, Hypercalciuria	ORPHA:251274
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Retinitis Pigmentosa	Keratoconus, Hypoplasia of penis, Cataract	ORPHA:791
Pelvis-Shoulder Dysplasia	Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria	OMIM:204730
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Lenticonus, Corneal e...	OMIM:301050
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Hypophosphatemic Rickets, Autosomal Dominant	Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Corneal arcus, Abnormal LDL cholesterol concentration	OMIM:603776
Lathosterolosis	Hypoplasia of penis, Cataract, Horseshoe kidney, Microcornea, Opacification of the corneal stroma...	ORPHA:46059
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Renal salt wasting	OMIM:613743
Schimmelpenning-Feuerstein-Mims Syndrome	Hypophosphatemic rickets, Hyperphosphaturia, Corneal opacity, Horseshoe kidney	OMIM:163200
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Edema, Minimal change glomerulonephritis, ...	ORPHA:656
Wagro Syndrome	Cataract, Corneal opacity, Proteinuria, Aniridia, Nephroblastoma	OMIM:612469
Bietti Crystalline Dystrophy	Crystalline corneal dystrophy	ORPHA:41751
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Gyrate Atrophy Of Choroid And Retina	Hyperornithinemia, Aminoaciduria, Cataract, Subcapsular cataract	ORPHA:414
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis...	ORPHA:263479
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Hydroxyprolinemia, Hypercalciuria, Hyperphosphatemia, Hy...	OMIM:239000
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, L...	OMIM:104200
Multiple Sulfatase Deficiency	Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Mucopolysacchariduria...	ORPHA:585
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level, Renal sodium wasting	ORPHA:556030
Cutis Laxa, Autosomal Recessive, Type Iiia	Cataract, Low plasma citrulline, Hyperammonemia, Corneal arcus, Hypoprolinemia, Hypoornithinemia,...	OMIM:219150
Metaphyseal Chondrodysplasia, Jansen Type	Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosphatemia	OMIM:156400
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Hurler-Scheie Syndrome	Heparan sulfate excretion in urine, Corneal opacity, Dermatan sulfate excretion in urine	OMIM:607015
Galloway-Mowat Syndrome 5	Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-r...	OMIM:617731
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Hurler-Scheie Syndrome	Abnormal nerve conduction velocity, Sensorineural hearing impairment, Corneal opacity	ORPHA:93476
Coloboma, Ocular, Autosomal Dominant	Vesicoureteral reflux, Corneal opacity, Peters anomaly	OMIM:120200
Al-Gazali Syndrome	Polyhydramnios, Corneal opacity, Hydronephrosis, Sclerocornea	OMIM:609465
Tyrosinemia, Type Ii	Hypertyrosinemia, 4-Hydroxyphenylpyruvic aciduria, Herpetiform corneal ulceration	OMIM:276600
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity, Unilateral renal agenesis	ORPHA:1064
Multiple Sulfatase Deficiency	Periorbital edema, Mucopolysacchariduria, Corneal opacity	OMIM:272200
Mucolipidosis Iii Alpha/Beta	Opacification of the corneal stroma, Increased serum beta-hexosaminidase, Hyperopic astigmatism	OMIM:252600
Pearson Marrow-Pancreas Syndrome	Hypercalciuria, Hydrops fetalis, Dehydration, 3-Methylglutaric aciduria, Renal Fanconi syndrome, ...	OMIM:557000
Xeroderma Pigmentosum	Conjunctival telangiectasia, Cataract, Keratitis, Sensorineural hearing impairment, Optic atrophy...	ORPHA:910
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus	OMIM:144010
Abcd Syndrome	Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari...	OMIM:600501
Olmsted Syndrome 1	Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Phacoanaphylactic Uveitis	Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, Macular edema, Pse...	ORPHA:209959
Hypercholesterolemia, Familial, 1	Increased LDL cholesterol concentration, Corneal arcus	OMIM:143890
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Leber Congenital Amaurosis 4	Keratoconus	OMIM:604393
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia, Renal salt wasting	OMIM:614736
Deafness, Autosomal Dominant 9	Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment...	OMIM:601369
Usher Syndrome Type 1	Cataract, Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction,...	ORPHA:231169
Erythrokeratodermia Variabilis	Cataract, Corneal opacity, Hearing impairment, Protruding ear	ORPHA:317
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Fucosidosis	Mucopolysacchariduria, Corneal opacity	ORPHA:349
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Hypocalciuria, Hypophosphaturia	ORPHA:73223
Leber Congenital Amaurosis 2	Keratoconus, Cataract	OMIM:204100
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Heterochromia iridis, Abnormality of the middle ear ossicles, Severe conductive...	ORPHA:90646
Primary Hyperoxaluria	Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic...	ORPHA:416
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Hypernatremia, Megacystis, Polyuria	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Hypernatremia, Megacystis, Polyuria	OMIM:304800
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Vertigo, Tinnitus, Opacification of the corneal stroma, Hearing impairment	ORPHA:79280
Bardet-Biedl Syndrome 17	Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst	OMIM:615994
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Hypospadias, Brushfield spots, Conjugated hyperbilirubinemia, Sensorineural hearing imp...	OMIM:614866
Mucopolysaccharidosis Type 3	Mixed hearing impairment, Cataract, Corneal opacity, Thickened helices, Abnormality of the middle...	ORPHA:581
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Dermatitis, Atopic	Keratoconus, Cataract, Conjunctivitis	OMIM:603165
Aniridia 1	Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,...	OMIM:106210
Intermediate Uveitis	Tubulointerstitial nephritis, Posterior synechiae of the anterior chamber, Cataract, Band keratop...	ORPHA:279914
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Sensorineural hearing impairment, Cataract, Abnormal auditory evoked potentials	OMIM:619260
Dimethylglycine Dehydrogenase Deficiency	Elevated circulating N,N-dimethylglycine concentration, Elevated circulating creatine kinase conc...	OMIM:605850
Spinocerebellar Ataxia, Autosomal Recessive 3	Cochlear degeneration, Hearing impairment	OMIM:271250
Cockayne Syndrome B	Renal insufficiency, Proteinuria, Abnormal pinna morphology, Abnormal auditory evoked potentials,...	OMIM:133540
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis	OMIM:615398
Nail-Patella Syndrome	Keratoconus, Renal insufficiency, Cataract, Proteinuria, Glomerulonephritis, Antecubital pterygiu...	OMIM:161200
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Lymphedema, Myopic astigmatism, Microcornea, Astigmatism	OMIM:152950
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Mosaic Trisomy 1	Abnormal pinna morphology, Renal cortical cysts, Renal cyst, Opacification of the corneal stroma,...	ORPHA:1692
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Micropenis, Decreased corneal thickness, Oligohydramnios	ORPHA:293967
Noonan Syndrome 9	Hydroureter, Prominent corneal nerve fibers	OMIM:616559
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so...	ORPHA:320
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Hypouricemia, Renal, 1	Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos...	OMIM:220150
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Renal sodium wasting, Hyperkalemia, Increased circulating renin level	ORPHA:556037
Fish-Eye Disease	Decreased HDL cholesterol concentration, Corneal opacity	ORPHA:79292
Adrenal Hypoplasia, Congenital	Hyponatremia, Dehydration, Renal salt wasting	OMIM:300200
Teratoma, Pineal	Polyuria	OMIM:273120
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ede...	OMIM:256300
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Low-set ears, Hypoma...	OMIM:618183
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Hereditary Acrokeratotic Poikiloderma	Hearing impairment, Abnormal preputium morphology, Abnormality of the urethra, Keratoconjunctivit...	ORPHA:2907
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Decreased urinary potassium	OMIM:611489
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Renal insufficiency, Cataract, Proteinuria, Optic atrophy, C...	ORPHA:90321
Familial Dysautonomia	Hyponatremia, Glomerulopathy, Renal insufficiency, Corneal opacity, Abnormality of the kidney, Ab...	ORPHA:1764
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity, Elevated circulating creatine kinase concentration	OMIM:613153
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, An...	OMIM:123550
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Congenital Sialidosis Type 2	Cataract, Corneal opacity, Abnormality of the kidney, Edema, Developmental cataract, Ascites	ORPHA:93400
Leber Congenital Amaurosis	Keratoconus, Cataract	ORPHA:65
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Familial Hypoaldosteronism	Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul...	ORPHA:427
Sympathetic Ophthalmia	Papilledema, Cataract, Anterior chamber cells, Posterior synechiae of the anterior chamber, Corne...	ORPHA:79098
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Cockayne Syndrome A	Renal insufficiency, Cataract, Proteinuria, Abnormal pinna morphology, Abnormal auditory evoked p...	OMIM:216400
Arima Syndrome	Proteinuria, Polyuria, Optic atrophy, Stage 5 chronic kidney disease, Hematuria, Renal corticomed...	OMIM:243910
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Hypercalcemia, Prominent corneal nerve fibers, Elevated uri...	ORPHA:653
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Hypouricemia, Hypophosphatemia, Nephrocalcinosis, Aminoaciduria, ...	OMIM:616026
Lathosterolosis	Cataract, Horseshoe kidney, Abnormal circulating cholesterol concentration, Opacification of the ...	OMIM:607330
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Popliteal pterygium, Low-set ears, Overfolded helix, Axil...	OMIM:619339
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Cataract, Polyhydramnios, Hypercalciuria, Nephrocalcinosis, Renal dysplasia	OMIM:300990
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme...	ORPHA:52368
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Nephrocalcinosis, Congenital meg...	ORPHA:369837
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria	ORPHA:33574
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Abnormal pupil morphology, Dehydration, Oligosacchariduria, Nephrocalcinosis, Amin...	ORPHA:534
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis	OMIM:613312
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p...	OMIM:601455
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Hypophosphatemia, Hypopho...	OMIM:618913
Alagille Syndrome 1	Duplicated collecting system, Posterior embryotoxon, Cataract, Hypertriglyceridemia, Band keratop...	OMIM:118450
Lassa Fever	Conjunctivitis, Oliguria, Hearing impairment	ORPHA:99824
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Edema, Minimal change glomerulonephritis, Facial edema, Hyperlipidemia, Chronic ...	ORPHA:567546
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Bartsocas-Papas Syndrome	Popliteal pterygium, Corneal opacity, Renal hypoplasia/aplasia	ORPHA:1234
Leber Congenital Amaurosis 8	Keratoconus, Cataract	OMIM:613835
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hyperammonemia	ORPHA:664
Juvenile Sialidosis Type 2	Cataract, Corneal opacity, Abnormality of the kidney, Optic atrophy, Low-set ears, Hearing impair...	ORPHA:93399
Mucopolysaccharidosis Type 4	Mucopolysacchariduria, Corneal opacity	ORPHA:582
Cranioectodermal Dysplasia 1	Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Protruding ear, ...	OMIM:218330
Schimke Immuno-Osseous Dysplasia	Corneal opacity, Proteinuria, Minimal change glomerulonephritis, Hyperlipidemia, Stage 5 chronic ...	ORPHA:1830
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Corneal opacity, Elevated circulating creatine kinase concentration...	OMIM:301056
Harel-Yoon Syndrome	Corneal opacity, Developmental cataract	OMIM:617183
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Progeria-Short Stature-Pigmented Nevi Syndrome	Cataract, Hypospadias, Band keratopathy, Progressive sensorineural hearing impairment, Micropenis	ORPHA:2959
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka...	ORPHA:99845
Alpha-Mannosidosis	Cataract, Corneal opacity, Abnormal helix morphology, Chronic otitis media, Macrotia, Hearing imp...	ORPHA:61
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity	ORPHA:2741
Oculoectodermal Syndrome	Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal dermoid, Bladder exstrophy	OMIM:600268
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Anterior chamber synechiae, Band keratopathy	ORPHA:85410
Microtriplication 11Q24.1	Keratoconus, Hyperlipidemia	ORPHA:289522
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Renal steatosis, Increased LDL cho...	ORPHA:412
Severe Early-Childhood-Onset Retinal Dystrophy	Optic disc pallor, Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Optic...	ORPHA:364055
Scheie Syndrome	Corneal opacity	OMIM:607016
Brittle Cornea Syndrome	Corneal dystrophy, Corneal erosion, Corneal scarring, Keratoglobus, Decreased corneal thickness	ORPHA:90354
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment...	ORPHA:1215
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea	ORPHA:83461
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc...	OMIM:242150
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Cutis Laxa, Autosomal Dominant 3	Corneal opacity, Unilateral renal agenesis, Developmental cataract	OMIM:616603
3Mc Syndrome 3	Corneal opacity, Abnormal pinna morphology, Horseshoe kidney, Auricular pit, Micropenis, Penoscro...	OMIM:248340
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Edema, Lens luxation, Abs...	OMIM:120330
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertriglyceridemia, Cataract, Polyuria, Developmental cataract, Low-se...	OMIM:606721
Sanjad-Sakati Syndrome	Hypoplasia of penis, Corneal opacity, Astigmatism, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Alagille Syndrome	Keratoconus, Corneal dystrophy, Renal hypoplasia/aplasia, Abnormal pupil morphology, Abnormality ...	ORPHA:52
Mucopolysaccharidosis, Type Vii	Corneal opacity, Heparan sulfate excretion in urine, Hydrops fetalis, Dermatan sulfate excretion ...	OMIM:253220
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Sensorineural hearing impairment, Cataract, Corneal opacity	ORPHA:290
Argininosuccinic Aciduria	Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargininemia	ORPHA:23
H Syndrome	Hypertriglyceridemia, Abnormality of the kidney, Corneal arcus, Micropenis, Enlarged kidney, Hear...	ORPHA:168569
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Edema, Mesangial hypercellularity...	OMIM:617575
Arthrogryposis, Distal, Type 5	Keratoconus, Keratoglobus, Astigmatism	OMIM:108145
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Protruding ear, Microcornea, Keratoconjunctivitis sicc...	ORPHA:1806
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Sensorineural hearing impairment, Megacystis, Pyelonephritis, Fetal megacystis, Renal cor...	OMIM:619351
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,...	ORPHA:99880
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Posteriorly rotated ears, Corneal opacity, Keratitis, Microtia, Conjunctivitis, Recurrent otitis ...	OMIM:602562
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Pseudohypoparathyroidism Type 1A	Calcinosis, Cataract, Band keratopathy, Sensorineural hearing impairment, Hyperphosphatemia, Conj...	ORPHA:79443
Zellweger Syndrome	Multicystic kidney dysplasia, Cataract, Corneal opacity, Hypospadias, Brushfield spots, Posterior...	ORPHA:912
Hypophosphatemic Rickets And Hyperparathyroidism	Renal phosphate wasting, Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Bartsocas-Papas Syndrome 1	Ectopic kidney, Cupped ear, Popliteal pterygium, Microtia, Opacification of the corneal stroma, P...	OMIM:263650
Fabry Disease	Conjunctival telangiectasia, Glomerulopathy, Renal insufficiency, Cataract, Corneal opacity, Corn...	ORPHA:324
Farber Disease	Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma	ORPHA:333
Agel Amyloidosis	Cataract, Proteinuria, Edema, Xerostomia, Stage 5 chronic kidney disease, Keratoconjunctivitis si...	ORPHA:85448
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,...	ORPHA:143
Melkersson-Rosenthal Syndrome	Periorbital edema, Edema, Oligosacchariduria	ORPHA:2483
Mucolipidosis Ii Alpha/Beta	Increased serum beta-hexosaminidase, Mucopolysacchariduria, Opacification of the corneal stroma, ...	OMIM:252500
Sjogren-Larsson Syndrome	Astigmatism, Opacification of the corneal epithelium	OMIM:270200
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Walker-Warburg Syndrome	Hypoplasia of penis, Cataract, Corneal opacity, Microcornea, Abnormal circulating creatine kinase...	ORPHA:899
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens...	ORPHA:50815
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation	ORPHA:284160
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Sclerocornea, Iris coloboma, Hearing impairment	ORPHA:77298
Osteoporosis-Pseudoglioma Syndrome	Corneal opacity	ORPHA:2788
Cockayne Syndrome	Urinary incontinence, Lentiglobus, Renal hypoplasia, Nephrotic syndrome, Abnormal cornea morpholo...	ORPHA:191
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Multicystic kidney dysplasia, Elevated circulating creatine kinase concentration, Optic nerve dys...	OMIM:615287
Fryns Syndrome	Ureteral duplication, Renal agenesis, Hypospadias, Aganglionic megacolon, Renal cyst, Opacificati...	OMIM:229850
Lowry-Maclean Syndrome	Developmental glaucoma, Megalocornea, Corneal opacity, Hypospadias	ORPHA:2409
Primary Unilateral Adrenal Hyperplasia	Decreased circulating renin level, Hypokalemia, Increased urinary potassium	ORPHA:231580
Microphthalmia, Isolated, With Coloboma 9	Sclerocornea, Microcornea, Low-set ears, Ocular anterior segment dysgenesis, Macrotia, Iris coloboma	OMIM:615145
Gaucher Disease, Type Iiic	Opacification of the corneal stroma	OMIM:231005
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Corneal arcus, Hyperc...	OMIM:210250
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Aminoaciduria, Renal Fa...	ORPHA:436271
Mietens Syndrome	Microcornea, Cataract, Corneal opacity, Sclerocornea	ORPHA:2557
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Short Syndrome	Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo...	ORPHA:3163
Oculocerebral Hypopigmentation Syndrome, Cross Type	Ureteral stenosis, Cataract, Corneal opacity, Ocular albinism, Abnormality of the urinary system,...	ORPHA:2719
Mosaic Trisomy 8	Corneal opacity, Abnormal pinna morphology, Protruding ear, Abnormal antihelix morphology, Vesico...	ORPHA:96061
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization	ORPHA:163934
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity	ORPHA:1867
Pierson Syndrome	Diffuse mesangial sclerosis, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Proteinuri...	OMIM:609049
Hypophosphatemic Rickets, X-Linked Dominant	Abnormal circulating calcium concentration, Renal tubular dysfunction, Renal phosphate wasting, H...	OMIM:307800
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Corneal opacity, Polyhydramnios, Hydrops fetalis, Horseshoe...	ORPHA:99776
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Edema, Nephrotic syndrome, Focal segmental glom...	OMIM:254900
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating r...	ORPHA:90791
Fryns Syndrome	Multicystic kidney dysplasia, Corneal opacity, Hypospadias, Polyhydramnios, Vesicoureteral reflux...	ORPHA:2059
Stuve-Wiedemann Syndrome 1	Low-set ears, Abnormal autonomic nervous system physiology, Opacification of the corneal stroma	OMIM:601559
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Decreased circulating renin level, Hypokalemia, Increased urinary potassium	ORPHA:231625
Oncogenic Osteomalacia	Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:352540
Mucopolysaccharidosis Type 1	Mucopolysacchariduria, Corneal opacity	ORPHA:579
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, Buphthalmos, EEG abn...	OMIM:253280
Knobloch Syndrome 1	Duplicated collecting system, Optic disc pallor, Band keratopathy, Developmental cataract, Iris t...	OMIM:267750
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster...	OMIM:221900
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Hypospadias, Sclerocornea, Microcornea, Ectopia pupillae	OMIM:615877
Familial Glucocorticoid Deficiency	Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Hyperkalemia, Hypernatriuria	ORPHA:361
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Sensorineural hearing impairment, Optic atrophy, Renal tubular dy...	OMIM:220110
Encephalocraniocutaneous Lipomatosis	Sclerocornea, Hypoplasia of the iris, Limbal dermoid, Pelvic kidney, Hydronephrosis	OMIM:613001
Oculomaxillofacial Dysostosis	Corneal opacity	ORPHA:1794
Leber Congenital Amaurosis 9	Keratoconus	OMIM:608553
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Gapo Syndrome	Keratoconus, Palpebral edema, Nephrolithiasis	ORPHA:2067
Adult-Onset Autosomal Dominant Leukodystrophy	Recurrent urinary tract infections, Orthostatic hypotension, Abnormal auditory evoked potentials,...	ORPHA:99027
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Optic nerve hypoplasia, Urinary incontinence, Decreased nerv...	ORPHA:101085
Congenital Disorder Of Deglycosylation 1	Hyperalaninemia, Corneal opacity, Elevated circulating alpha-fetoprotein concentration, Heparan s...	OMIM:615273
Histiocytosis-Lymphadenopathy Plus Syndrome	Micropenis, Corneal arcus, Sensorineural hearing impairment, Hearing impairment	OMIM:602782
Acute Monoblastic/Monocytic Leukemia	Progressive hearing impairment, Oliguria	ORPHA:514
Stromme Syndrome	Cataract, Sclerocornea, Bilateral renal hypoplasia, Microcornea, Hydronephrosis, Peters anomaly, ...	OMIM:243605
Lacrimoauriculodentodigital Syndrome	Increased corneal thickness, Xerostomia, Renal hypoplasia, Keratoconjunctivitis, Hydronephrosis, ...	ORPHA:2363
Hereditary Orotic Aciduria	Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria	ORPHA:30
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Aganglionic...	OMIM:308205
Cystic Fibrosis	Hypercalciuria, Dehydration	OMIM:219700
Blau Syndrome	Cataract, Band keratopathy, Abnormality of the ear, Iritis, Abnormal cranial nerve morphology	OMIM:186580
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Urinary incontinence, EEG abnormality	ORPHA:206448
Hurler Syndrome	Mucopolysacchariduria, Corneal opacity	ORPHA:93473
Cholera	Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo...	ORPHA:173
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Mucolipidosis Type Iv	EEG abnormality, Corneal opacity	ORPHA:578
Rodrigues Blindness	Microcornea, Sclerocornea	OMIM:268320
Autosomal Recessive Cutis Laxa Type 2A	Abnormal cornea morphology, Corneal opacity	ORPHA:357058
Sarcoidosis	Renal insufficiency, Cataract, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, ...	ORPHA:797
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Mend Syndrome	Cataract, Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-chole...	ORPHA:401973
Late-Infantile/Juvenile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per...	ORPHA:206443
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Cataract, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypokalemi...	OMIM:617913
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Corneal opacity, Hypospadias, Unilateral renal agenesis, Polyhydramnios, Renal cyst, Astigmatism,...	ORPHA:464311
Zttk Syndrome	Polyuria, Unilateral renal agenesis, Optic atrophy, Horseshoe kidney, Protruding ear, Low-set ears	OMIM:617140
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Microcornea, Bladder diverticulum, Keratoconus, Decreased urinary lysyl-pyridinoline-hydroxylysyl...	OMIM:225400
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity	OMIM:259600
Microphthalmia With Brain And Digit Anomalies	Microcornea, Cataract, Iris coloboma, Sclerocornea	ORPHA:139471
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva...	OMIM:309000
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Periorbital edema, Abnor...	ORPHA:904
Neurotrophic Keratopathy	Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora...	ORPHA:137596
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Buphthalmos, Peter...	OMIM:236670
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Abnormality of cartilage of external ear, Cupped ear, Low-set ears, Co...	ORPHA:2399
Oculocerebrocutaneous Syndrome	External ear malformation, Corneal opacity, Iris coloboma, Hearing impairment	ORPHA:1647
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Keratoconus	OMIM:609438
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Dehydrati...	ORPHA:168558
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Renal salt wasting, Long penis, Hypokalemia, Increased urinary 11-deoxycorticosterone level, Decr...	ORPHA:90795
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus	ORPHA:401777
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Optic atrophy	OMIM:616881
Opsismodysplasia	Polyhydramnios, Edema, Renal phosphate wasting, Hypophosphatemia, Oligohydramnios	OMIM:258480
Autosomal Recessive Hypophosphatemic Rickets	Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, S...	ORPHA:289176
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Acute Adrenal Insufficiency	Hyponatremia, Renal insufficiency, Hypercalcemia, Decreased urinary potassium, Renal salt wasting...	ORPHA:95409
Tbck-Related Intellectual Disability Syndrome	Neurogenic bladder, Abnormal circulating lipid concentration, Corneal opacity, Oligohydramnios	ORPHA:488632
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Dehydrati...	ORPHA:289548
Leprechaunism	Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increased circulating renin level, Enl...	ORPHA:508
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Pleural effusion, Hypercalciuria	OMIM:181000
Alpha-Mannosidosis, Infantile Form	Recurrent urinary tract infections, Cataract, Corneal opacity, Oligosacchariduria, Astigmatism	ORPHA:309282
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Keratoconjunctivitis, Band keratopathy	OMIM:269200
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium co...	ORPHA:275761
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Cataract, Corneal opacity, Polyhydramnios, Increased nuchal translu...	ORPHA:1052
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper...	ORPHA:542323
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia...	ORPHA:159
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Vestibular areflexia	ORPHA:3240
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Corneal opacity, Ectopia lentis, Renal hypoplasia/aplasia, Horsesho...	ORPHA:2092
Histiocytoid Cardiomyopathy	Corneal opacity, Renal cyst, Megalocornea, Congenital aphakia, Pulmonary edema	ORPHA:137675
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Beckwith-Wiedemann Syndrome	Ureteral duplication, Elevated circulating alpha-fetoprotein concentration, Polyhydramnios, Nephr...	ORPHA:116
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Oliguria, Abnormal blood ion concentration, Hypophosphatemia, ...	ORPHA:31824
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria	OMIM:267430
Hepatoerythropoietic Porphyria	Nonimmune hydrops fetalis, Edema, Abnormal circulating porphyrin concentration, Red-brown urine, ...	ORPHA:95159
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype...	OMIM:229600
Trisomy 10P	Posteriorly rotated ears, Abnormality of the kidney, Abnormal auditory evoked potentials, EEG wit...	ORPHA:171929
Dyrk1A-Related Intellectual Disability Syndrome	Corneal opacity, Hypospadias, Unilateral renal agenesis, Renal cyst, Astigmatism, Micropenis, Pel...	ORPHA:464306
Mucopolysaccharidosis, Type Vi	Corneal opacity, Dermatan sulfate excretion in urine	OMIM:253200
Ethylene Glycol Poisoning	Renal insufficiency, Facial palsy, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular...	ORPHA:31826
Warburg-Cinotti Syndrome	Symblepharon, Joint swelling, Limbal stem cell deficiency, Decreased corneal thickness, Corneal n...	OMIM:618175
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Hemorrhagic Fever-Renal Syndrome	Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Elevated circulating creatinine ...	ORPHA:340
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Costello Syndrome	Keratoconus, Polyhydramnios	ORPHA:3071
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ectopia pupillae, Hypotriglyceridemia, Corneal opacity, Lens subluxation	ORPHA:85167
Oculoauricular Syndrome	Cataract, Sclerocornea, Absent earlobe, Nasolacrimal duct obstruction, Developmental cataract, Mi...	OMIM:612109
Osteogenesis Imperfecta	Hypercalciuria, Corneal opacity, Nephrolithiasis	ORPHA:666
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Gapo Syndrome	Keratoconus, Shallow anterior chamber, Megalocornea, Tubulointerstitial fibrosis	OMIM:230740
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,...	OMIM:235400
Chromosome 8Q21.11 Deletion Syndrome	Micropenis, Cataract, Sclerocornea	OMIM:614230
Systemic Capillary Leak Syndrome	Renal insufficiency, Oliguria, Abnormal renal tubule morphology	ORPHA:188
Gm1 Gangliosidosis	Corneal opacity, Hydrops fetalis	ORPHA:354
Gaucher Disease	Corneal opacity, Proteinuria, Elevated circulating C-reactive protein concentration, Hydrops feta...	ORPHA:355
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Renal malrotation, Cataract, Corneal opacity, Edema of the dorsum of feet, ...	OMIM:274000
Wilson Disease	Kayser-Fleischer ring, Joint swelling	ORPHA:905
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus	ORPHA:542306
Roberts-Sc Phocomelia Syndrome	Cataract, Hypospadias, Corneal opacity, Posteriorly rotated ears, Abnormal pinna morphology, Long...	OMIM:268300
Williams-Beuren Syndrome	Recurrent urinary tract infections, Renal insufficiency, Hypercalcemia, Abnormal renal morphology...	OMIM:194050
Neurocardiofaciodigital Syndrome	Optic disc pallor, Cataract, Sclerocornea, Vesicoureteral reflux, Hearing impairment	OMIM:619869
Cerebrotendinous Xanthomatosis	Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct...	ORPHA:909
Kanzaki Disease	Increased urinary O-linked sialopeptides, Aminoaciduria, Tortuosity of conjunctival vessels, Lymp...	OMIM:609242
Microscopic Polyangiitis	Hematuria, Glomerulopathy, Renal insufficiency, Oliguria	ORPHA:727
Infantile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph...	ORPHA:206436
Tubulointerstitial Nephritis And Uveitis Syndrome	Cataract, Elevated circulating C-reactive protein concentration, Anterior chamber flare, Elevated...	ORPHA:91500
Histidinemia	Histidinuria, Hyperhistidinemia	ORPHA:2157
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Hypospadias, Sclerocornea, Chordee, Peters anomaly, Micropenis, Iris coloboma	OMIM:309801
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr...	OMIM:256040
Multiple Endocrine Neoplasia Type 1	Nephrolithiasis, Hypercalcemia, Dehydration, Hypercalciuria	ORPHA:652
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Corneal dystrophy, Hypospadias, Renal cyst, Buphthalmos, Keratoconjunctivitis sicca	ORPHA:495875
3Q29 Microduplication Syndrome	Aniridia, Cataract, Iris coloboma, Sclerocornea	ORPHA:251038
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Cataract, Sclerocornea, Microcornea, Aplasia/...	ORPHA:564
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800
Mccune-Albright Syndrome	Hyperphosphaturia, Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemia, Hearing ...	ORPHA:562
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Sclerocornea	ORPHA:2095
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Oliguria	ORPHA:220393
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Urin...	ORPHA:79102
Addison Disease	Hyponatremia, Hypercalcemia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Incre...	ORPHA:85138
Noonan Syndrome 10	Low-set ears, Prominent corneal nerve fibers	OMIM:616564
Gitelman Syndrome	Proteinuria, Urinary incontinence, Decreased urinary potassium, Pericardial effusion, Hypermagnes...	ORPHA:358
Kindler Epidermolysis Bullosa	Urethral stricture, Corneal opacity, Phimosis, Neoplasm of the urethra, Conjunctivitis	ORPHA:2908
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,...	ORPHA:90038
Tangier Disease	Hypertriglyceridemia, Corneal opacity, Hypocholesterolemia	ORPHA:31150
Angelman Syndrome	Keratoconus, Astigmatism, Iris hypopigmentation	ORPHA:72
Chime Syndrome	Hydronephrosis, Corneal opacity, Abnormality of the kidney	ORPHA:3474
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Hyperkalemia, Oliguria, Hypocalcemia, Acute kidney injury, Nephrotic range ...	ORPHA:544482
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity, Oligohydramnios	ORPHA:364577
Ablepharon Macrostomia Syndrome	Hypoplasia of penis, Corneal opacity, Corneal erosion, Microtia, Atresia of the external auditory...	ORPHA:920
Proboscis Lateralis	Cataract, Corneal opacity, Unilateral renal agenesis, Microcornea, Ureteral agenesis, Duplication...	ORPHA:141099
Mucopolysaccharidosis Type 2, Severe Form	Heparan sulfate excretion in urine, Corneal opacity, Dermatan sulfate excretion in urine	ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form	Heparan sulfate excretion in urine, Corneal opacity, Dermatan sulfate excretion in urine	ORPHA:217093
Gaisböck Syndrome	Hypertriglyceridemia, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Increased circulating r...	ORPHA:90041
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Renal salt wasting, Long penis, Hyperkalemia, Dehydration, Elevated urinary epineph...	ORPHA:90794
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Corneal opacity	OMIM:601812
Autosomal Dominant Cutis Laxa	Corneal opacity, Unilateral renal agenesis, Pyelonephritis, Developmental cataract, Bladder diver...	ORPHA:90348
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Cataract, Corneal opacity, Hypospadias, Polyh...	ORPHA:709
Microphthalmia, Syndromic 3	Micropenis, Cataract, Hypospadias, Sclerocornea	OMIM:206900
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity, Hypoalbuminemia	ORPHA:79396
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy	ORPHA:79330
Moebius Syndrome	Corneal opacity, Facial palsy, Hearing impairment	ORPHA:570
Lujo Hemorrhagic Fever	Renal insufficiency, Microscopic hematuria, Oliguria, Elevated circulating C-reactive protein con...	ORPHA:319213
De Barsy Syndrome	Cataract, Corneal opacity	ORPHA:2962
Arterial Tortuosity Syndrome	Keratoconus, Astigmatism	OMIM:208050
Dyggve-Melchior-Clausen Disease	Corneal opacity	ORPHA:239
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Recurrent urinary tract infections, Renal insufficiency, Oliguria, Stage 5 chronic ...	ORPHA:731
Limb Body Wall Complex	Lens subluxation, Corneal opacity, Iris coloboma, Abnormality of the kidney	ORPHA:2369
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria, Developmental cat...	OMIM:175780
Spondylodysplastic Ehlers-Danlos Syndrome	Corneal opacity, Lymphedema, Posterior subcapsular cataract, Megalocornea, Iris coloboma	ORPHA:536471
Incontinentia Pigmenti	Keratitis, Cataract, Corneal opacity	ORPHA:464
Sepsis In Premature Infants	Elevated circulating C-reactive protein concentration, Oliguria, Reversible renal failure	ORPHA:90051
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Cataract, Multicystic kidney dysplasia, Hypospadias, Sclerocornea, Renal hyp...	ORPHA:818
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Corneal opacity, Hypospadias, Sclerocornea, Epispadias, Posterior embr...	ORPHA:2556
Cardiogenic Shock	Vertigo, Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hydroureter, Corneal opacity, Abnormality of the kidney, Abnormality of the upper urinary tract, ...	ORPHA:2273
Neurofibromatosis Type 1	Cataract, Corneal opacity, Abnormality of the upper urinary tract, Lisch nodules, Heterochromia i...	ORPHA:636
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal...	ORPHA:649
Arterial Tortuosity Syndrome	Keratoconus, Keratoglobus	ORPHA:3342
Van Den Ende-Gupta Syndrome	Dilatation of the renal pelvis, Sclerocornea	OMIM:600920
Wolf-Hirschhorn Syndrome	Hypospadias, Abnormality of the kidney, Sclerocornea, Abnormality of the urinary system, Megaloco...	ORPHA:280
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Vertigo, Hyperkalemia, Oliguria, Hyperphospha...	ORPHA:466650
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea	OMIM:300952
Fraser Syndrome 1	Corneal opacity, Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia, Micropenis	OMIM:219000
Yunis-Varon Syndrome	Cataract, Hypospadias, Sclerocornea, Polyhydramnios, Increased nuchal translucency, Hydrops fetal...	ORPHA:3472
Encephalocraniocutaneous Lipomatosis	Corneal opacity, Iris coloboma	ORPHA:2396
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Corneal opacity, Oligohydramnios	OMIM:608670
Aneurysm Of Sinus Of Valsalva	Oliguria	ORPHA:1054
Larsen Syndrome	Corneal opacity	OMIM:150250
Phace Syndrome	Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma	ORPHA:42775
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Sclerocornea, Hypocalcemia, Post...	OMIM:188400
Wiedemann-Rautenstrauch Syndrome	Recurrent urinary tract infections, Cataract, Corneal opacity, Hypertriglyceridemia, Hypospadias,...	ORPHA:3455
Mucopolysaccharidosis Type 2	Corneal opacity	ORPHA:580
Generalized Arterial Calcification Of Infancy	Hyperphosphaturia, Edema, Polyhydramnios, Pericardial effusion, Hydrops fetalis, Nephrocalcinosis...	ORPHA:51608
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Keratoconjunctivitis sicca, Cystocele	ORPHA:285
Yellow Fever	Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Elevated circula...	ORPHA:99829
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Corneal opacity	ORPHA:2072
Microphthalmia, Syndromic 6	Microcornea, Renal hypoplasia, Sclerocornea	OMIM:607932
Vascular Ehlers-Danlos Syndrome	Keratoconus, Hypospadias, Abnormal pupil morphology, Cystocele, Renovascular hypertension, Bladde...	ORPHA:286
Hutchinson-Gilford Progeria Syndrome	Corneal ulceration, Corneal opacity	ORPHA:740
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus, Cystocele	OMIM:130050
Yunis-Varon Syndrome	Cataract, Hypospadias, Polyhydramnios, Sclerocornea, Hydrops fetalis, Micropenis	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
Slc4a11^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Slc4a11^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Slc4a11^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Slc4a11^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

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

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us