Gene Summary

Name:
aquaporin 11
Synonyms:
sjds,  1700015P13Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
fused cornea and lens Aqp11tm1.1(KOMP)Vlcg HET Early adult 6.40×10-05
decreased urine magnesium level Aqp11tm1.1(KOMP)Vlcg HET Early adult 6.02×10-30
mydriasis Aqp11tm1.1(KOMP)Vlcg HET   Early adult 8.52×10-05
decreased leukocyte cell number Aqp11tm1.1(KOMP)Vlcg HET Early adult 4.61×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Bone marrow  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Adult LacZ

LacZ Images Section

33 Images

Eye Morphology

Images Slit Lamp

5 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Electroretinography 2

Rod and cone PDF

4 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Aqp11 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Aqp11 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... OMIM:161900
Lipoprotein Glomerulopathy
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... OMIM:614817
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Hyperuricemic Nephropathy, Familial Juvenile, 3
Renal insufficiency, Nephropathy OMIM:614227
Nephronophthisis 20
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Branchiootorenal Syndrome 2
Renal dysplasia, Renal insufficiency OMIM:610896
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... OMIM:602088
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Nephropat... OMIM:137950
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits ORPHA:69063
Mitochondrial Complex I Deficiency, Nuclear Type 29
Failure to thrive, Stage 5 chronic kidney disease, Hyperalaninemia OMIM:618250
Nail-Patella-Like Renal Disease
Short stature, Microscopic hematuria, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2613
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Elevated circulating creatinine con... ORPHA:567544
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Recurrent urinary tract infections, Mac... OMIM:248190
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Short stature, Stage 5 chronic kidney disease, Steroid-resist... OMIM:618176
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology, Hyperuricemia OMIM:609886
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Stage 5 chronic kidney dis... ORPHA:54370
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Short stature, Nephrocalcinosis, Proxi... OMIM:308990
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Hereditary Renal Hypouricemia
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... ORPHA:94088
Cystinuria
Ornithinuria, Nephrolithiasis, Cystinuria, Recurrent urinary tract infections, Argininuria, Hyper... OMIM:220100
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k... OMIM:603965
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... OMIM:614131
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ... OMIM:601894
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy OMIM:602114
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease OMIM:617610
C3 Glomerulopathy 3
Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis OMIM:614809
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis, Megacystis, Nephrolithiasis, Recurrent urinary tract infections, Fetal pyelectasis OMIM:619365
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Urofacial Syndrome 2
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... OMIM:615112
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... OMIM:618177
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Macroscopic hematuria, Elevated circulating creatinine concentration, Dysuria, Hyperuricemia, Acu... ORPHA:79233
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Hyperuricemia, Nephropathy, Renal insufficiency OMIM:162000
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbumi... OMIM:617609
Hypomagnesemia 3, Renal
Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolithiasis, Hypo... OMIM:248250
Nephronophthisis 16
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney OMIM:615382
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Diffuse mesangial scleros... OMIM:256370
C3 Glomerulopathy
Nephrotic syndrome, Hematuria, Elevated circulating creatinine concentration, Stage 5 chronic kid... ORPHA:329918
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612926
Uveal Melanoma
Mydriasis, Zonular cataract, Iris melanoma, Inferior lens subluxation, Ciliary body melanoma ORPHA:39044
Nephronophthisis-Like Nephropathy 2
Periglomerular fibrosis, Elevated circulating creatinine concentration, Stage 5 chronic kidney di... OMIM:619468
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency OMIM:607832
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... OMIM:143400
Bardet-Biedl Syndrome 18
Obesity, Renal insufficiency OMIM:615995
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... OMIM:601631
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Preeclampsia
Small for gestational age, Elevated circulating creatinine concentration, Increased body mass ind... ORPHA:275555
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... OMIM:615573
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Renal insufficiency, Hyperuricemia, Acute kidney injury, Uric acid nephrolithias... ORPHA:411536
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hyperlipidemia, Nephrotic syndrome, Stage 5 chronic kidney di... OMIM:600995
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Decreased glomerular filtration rate, Hepatic cysts, Renal cyst, Pyelonephritis... ORPHA:730
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Complement Factor H Deficiency
Chronic kidney disease, Hematuria, Thickened glomerular basement membrane, Glomerular subendothel... OMIM:609814
Retinitis Pigmentosa 59
Hepatomegaly, Micropenis, Renal insufficiency, Intrauterine growth retardation OMIM:613861
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613779
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Nephropathy OMIM:242530
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, Renal cyst, Obesity, Renal insufficiency, Abnormality of the kidney OMIM:615993
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Nephrolithiasis OMIM:614723
Aa Amyloidosis
Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Prote... ORPHA:85445
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Hypoalbumine... ORPHA:84090
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndro... OMIM:618594
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Tubulointerstitial Nephritis With Uveitis
Glomerulonephritis, Reversible renal failure, Acute tubulointerstitial nephritis, Elevated circul... OMIM:607665
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Intrauterine growth retardation, Short stature, Renal cyst, H... OMIM:617056
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu... OMIM:616818
Camos Syndrome
Renal insufficiency, Nephrotic syndrome ORPHA:83472
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Renal cortical cysts, Increased serum pyruvate, Hyperalaninemia OMIM:617668
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... OMIM:220150
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:613944
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Short stature OMIM:618681
Nephronophthisis
Renal insufficiency ORPHA:655
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei... OMIM:613237
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomeg... OMIM:263200
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Renal potassium wasting, Renal magnesium wasting, Nephrocalcinosis ORPHA:564178
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Hematuria, Stage 5 chronic kidney disease, Steroid-resistant ... OMIM:616892
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... OMIM:610725
Xanthinuria, Type Ii
Hypouricemia, Renal insufficiency, Nephrolithiasis OMIM:603592
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... OMIM:123550
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Renal cortical cysts, Hepatomegaly, Generalized aminoaciduria, Proximal tu... OMIM:231680
Iatrogenic Botulism
Mydriasis, Urinary retention ORPHA:254509
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... OMIM:617805
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Wound Botulism
Mydriasis, Urinary retention ORPHA:178475
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolit... ORPHA:405
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome OMIM:249660
Dent Disease 2
Short stature, Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tub... OMIM:300555
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... OMIM:174000
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Elevated circulating creatinine concentration, S... OMIM:616733
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Recurrent urinary ... OMIM:613095
Inhalational Botulism
Mydriasis, Urinary retention ORPHA:254504
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... OMIM:603860
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Small for gestational age, Pelvic kidn... ORPHA:93101
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux OMIM:618270
Nephrosialidosis
Nephropathy, Renal insufficiency, Nephrotic syndrome OMIM:256150
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Nephropathy ORPHA:1909
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Thin glomerular basement membrane, Hypoalbuminemia, Chronic kidney disease, D... OMIM:615244
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... ORPHA:976
Nephrotic Syndrome, Type 22
Hypoproteinemia, Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stag... OMIM:619155
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperlipidemia, Stage 5 chronic kidney disease, Hypoalbuminem... OMIM:603278
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephropathy, Glomerulopathy, Proteinuria,... OMIM:254900
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Small for gestati... ORPHA:2260
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Hyperuricemia ORPHA:510
Thrombotic Thrombocytopenic Purpura
Hematuria, Decreased serum creatinine, Acute kidney injury, Proteinuria, Renal insufficiency ORPHA:54057
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Renal insufficiency, Hyperammonemia ORPHA:28
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal potassium wasting, Polyuria, Renal magnesium wasting OMIM:618314
Hyperuricemia, Hprt-Related
Renal insufficiency, Nephrolithiasis, Hyperuricemia, Hyperuricosuria OMIM:300323
Intestinal Botulism
Mydriasis ORPHA:178481
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Congenital nep... OMIM:256300
Hinman Syndrome
Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Renal insuff... ORPHA:84085
Bardet-Biedl Syndrome 19
Obesity, Renal insufficiency OMIM:615996
Iridocorneal Endothelial Syndrome
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... ORPHA:64734
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Proteinuria, Renal insufficiency, Hypertriglyceridemia OMIM:245900
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
Microcoria, Congenital
Microcoria, Miosis, Hypoplasia of the iris dilator muscle OMIM:156600
Hypomagnesemia 2, Renal
Hypocalciuria, Renal insufficiency, Renal magnesium wasting OMIM:154020
Botulism
Mydriasis, Urinary retention ORPHA:1267
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Glycogen Storage Disease Xi
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... OMIM:612933
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypercalcemia, Short stature, Increased blood urea nitrogen, Membranoproli... ORPHA:251004
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Short stature, Proximal tubulopathy, Hypophosphatemia, Glycosuria, Hyp... OMIM:613388
Glycogen Storage Disease X
Elevated circulating creatine kinase concentration, Myoglobinuria, Renal insufficiency OMIM:261670
Coach Syndrome 3
Renal tubular atrophy, Renal interstitial inflammation, Renal interstitial fibrosis, Nephronophth... OMIM:619113
Cystinuria
Hematuria, Renal insufficiency, Nephrolithiasis, Hyperuricemia ORPHA:214
Myoglobinuria, Autosomal Dominant
Elevated circulating creatine kinase concentration, Acute kidney injury, Myoglobinuria OMIM:160010
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Foodborne Botulism
Mydriasis, Urinary retention ORPHA:228371
Lcat Deficiency
Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Stage 5 chronic ki... ORPHA:650
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:161950
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Azotemia, Hematur... OMIM:104200
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Posterior Urethral Valve
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... ORPHA:93110
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Growth delay,... ORPHA:567548
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Familial Renal Glucosuria
Moderate postnatal growth retardation, Renal tubular dysfunction, Glycosuria, Recurrent urinary t... ORPHA:69076
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Hyperlipidemia, Short stature, Decreased glomer... OMIM:232200
Mpdu1-Cdg
Renal cortical cysts, Elevated circulating creatine kinase concentration ORPHA:79323
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal... OMIM:260000
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Tubulointerstitial nephritis, Elevated circulating long chain fatty acid concentra... ORPHA:228302
Igg4-Related Retroperitoneal Fibrosis
Hydronephrosis, Nephrotic syndrome, Renovascular hypertension, Membranous nephropathy, Hematuria,... ORPHA:49041
Hepatic Veno-Occlusive Disease
Renal insufficiency, Increased total bilirubin, Increased body weight ORPHA:890
Acrorenal Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Abnormal renal morphology ORPHA:971
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Hemolytic-uremic syndro... OMIM:274150
Distal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Decreased glomerular fi... ORPHA:18
Hereditary Xanthinuria
Hypouricemia, Hydronephrosis, Decreased urinary urate, Hyperxanthinemia, Increased urinary hypoxa... ORPHA:3467
Primary Hyperoxaluria Type 2
Ureteral obstruction, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Recurrent urinary tract i... ORPHA:93599
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Hyperlipidemia, Short stature, Decreased glomer... OMIM:232220
Azotemia, Familial
Azotemia OMIM:109160
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Renal hypoplasia, Rhizomelia, Short stature OMIM:617661
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Hypokalemia, Lacticaciduria, Short stature, Hypophosphatemia, Glycosur... OMIM:134600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Anuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome,... OMIM:235400
Uremic Pruritus
Hypercalcemia, Stage 5 chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphate... ORPHA:94059
Senior-Loken Syndrome
Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease, Short stature ORPHA:3156
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Intrauterine growth retardation, Renal cyst, Splenomegaly, Hepatosplenomegaly, Rena... OMIM:614866
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Proteinuria ORPHA:2134
Juvenile Nephropathic Cystinosis
Renal Fanconi syndrome, Hyponatremia, Hypocalcemic tetany, Hypouricemia, Hypokalemia, Failure to ... ORPHA:411634
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Hyperuricemia, Acute kidney injury, Uric acid nephrolithiasis, Crystalluria, Ren... ORPHA:411543
East Syndrome
Renal salt wasting, Renal sodium wasting, Abnormal urinary electrolyte concentration, Enuresis, R... ORPHA:199343
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Hydronephrosis, Failure to thrive, Recurrent urinary tract infections, Stage 2 chron... OMIM:191800
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... ORPHA:2364
Nephronophthisis 4
Renal tubular atrophy, Growth delay, Nephronophthisis, Tubulointerstitial fibrosis, Renal cortico... OMIM:606966
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Hypercalcemia, Proteinuria, Renal insufficiency ORPHA:2668
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Ureteral duplication, Hydronephrosis, Decreased plasma free carnitine, Elevated cir... OMIM:608836
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Hematuria, Elevated circulating C-reactive pr... ORPHA:231111
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:604387
Granulomatous Slack Skin
Hypercalcemia, Acute kidney injury, Nephrocalcinosis ORPHA:33111
Nephronophthisis 1
Renal tubular atrophy, Growth delay, Nephronophthisis, Tubulointerstitial fibrosis, Renal cortico... OMIM:256100
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentra... OMIM:614376
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nep... ORPHA:85450
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Enlarged kidney OMIM:615415
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Hypernatriuria, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Stage 5 chron... ORPHA:656
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Maternally-Inherited Diabetes And Deafness
Abnormal circulating lipid concentration, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:225
Tyrosinemia, Type I
Renal Fanconi syndrome, Hypophosphatemic rickets, Hepatomegaly, Nephrocalcinosis, Hypertyrosinemi... OMIM:276700
Amyloidosis, Finnish Type
Renal insufficiency, Nephrotic syndrome OMIM:105120
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Combined Oxidative Phosphorylation Deficiency 52
Hyperamylasemia, Lacticaciduria, Elevated circulating creatine kinase concentration, Hyperglycine... OMIM:619386
Liddle Syndrome
Hypokalemia, Renal insufficiency, Nephropathy ORPHA:526
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hyperuricemia, Uric acid nephrolithiasis, Hyperuricosuria OMIM:300661
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia, Failure to thrive, Hematuria, Weight loss, Nephrolithiasis, Renal i... ORPHA:35710
Idiopathic Hypercalciuria
Hypercalciuria, Renal calcium wasting, Calcium oxalate nephrolithiasis ORPHA:2197
Malaria
Acute kidney injury, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Hyperuricemia, Vesicoureteral reflux, Chronic kidney disease, Obesity, Proteinuri... ORPHA:261222
Infant Botulism
Mydriasis, Keratoconjunctivitis sicca ORPHA:178478
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chron... OMIM:203780
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Pierson Syndrome
Microcoria, Posterior lenticonus, Hypoplasia of the iris, Nephrotic syndrome, Rieger anomaly, Sta... OMIM:609049
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hepatic cysts, Decreased glomerular filtration rate, Renal insufficiency, Stage 5 chronic kidney ... OMIM:618061
Dent Disease 1
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephr... OMIM:300009
Nephronophthisis 18
Renal tubular atrophy, Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney dis... OMIM:615862
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypermagnesiuria ORPHA:34527
Familial Isolated Hyperparathyroidism
Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Infantile hypercalcemia, Hy... ORPHA:99879
Posterior Polymorphous Corneal Dystrophy
Corneal stromal edema, Reduced number of corneal endothelial cells, Chorioretinal degeneration, I... ORPHA:98973
Joubert Syndrome 5
Renal cortical cysts, Nephronophthisis, Impaired renal concentrating ability, Stage 5 chronic kid... OMIM:610188
Serotonin Syndrome
Mydriasis, Acute kidney injury ORPHA:43116
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Nephronophthisis 13
Renal hypoplasia, Pancreatic cysts, Nephronophthisis, Hepatic cysts, Stage 5 chronic kidney disea... OMIM:614377
Renal Coloboma Syndrome
Renal hypoplasia, Renal dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal ins... ORPHA:1475
C Syndrome
Renal cortical cysts, Hepatomegaly, Short stature OMIM:211750
Hypervitaminosis A, Susceptibility To
Hypercalcemia, Renal insufficiency OMIM:240150
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Hypospadias, Meningocele, Renal cortical cysts, Short stature, Renal dysplasia, Rhizomelic arm sh... ORPHA:397715
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy ORPHA:3033
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Postnatal growth retardation, Duplicated collecting system, Intrauterine growth r... OMIM:617093
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Hematuria, Renal cyst, Nephropathy OMIM:611773
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Elevat... ORPHA:93126
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin OMIM:174050
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Short stature OMIM:613390
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration, Abnormal renal medulla morphology,... ORPHA:439232
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis, Renal cortical hyperechogenicity, Anuria, Megacystis, Fetal megacystis, Pyelonephritis OMIM:619351
Acrorenal Syndrome, Autosomal Recessive
Decreased numbers of nephrons, Renal hypoplasia, Renal insufficiency OMIM:201310
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Increased urinary potassium, Failure to thrive, Decreased glomerular f... OMIM:602522
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Joubert Syndrome 4
Nephronophthisis, Abnormal renal medulla morphology, Renal insufficiency OMIM:609583
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Megabladder, Congenital
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease OMIM:618719
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hyperuricemia ORPHA:3222
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Failure to thrive, Chronic kidney disease, Hyperuricemia, Hypomagnesemia, Proteinur... OMIM:613845
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Hepatomegaly, Pancreatic hyperplasia, Nephrocalcinosis, Cardiomegaly, Nephr... OMIM:130650
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
Facial Spasm
Anisocoria OMIM:134300
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic cysts, Renal dysplasia, Hepatic cysts, Enlarged kidney, Polycystic kidne... OMIM:208540
Harrod Syndrome
Hypospadias, Renal cortical microcysts OMIM:601095
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Renal tubular dysfunction, Growth delay, Hyperammonemia, Renal insufficiency ORPHA:289916
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:268200
Diaphanospondylodysostosis
Cystic renal dysplasia, Intrauterine growth retardation, Nephrogenic rest, Nephroblastomatosis, D... OMIM:608022
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency ORPHA:3327
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Glycogen Storage Disease Vi
Hepatomegaly, Hyperlipidemia, Hypercholesterolemia, Postnatal growth retardation, Hypertriglyceri... OMIM:232700
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Increased urinary potassium, Failure to thrive, Decreased glomerular f... OMIM:613090
Ochoa Syndrome
Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral reflux, ... ORPHA:2704
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Elevated circulating creatinine concentration, Glomerular sclerosis, I... OMIM:223900
Jeune Syndrome
Nephronophthisis, Short stature, Renal insufficiency, Nephropathy ORPHA:474
Mosaic Trisomy 1
Renal cortical cysts, Micropenis, Renal cyst, Penile hypospadias ORPHA:1692
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... OMIM:616730
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Neph... OMIM:617303
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Renal insufficiency, Nephropathy OMIM:166300
Galloway-Mowat Syndrome 2, X-Linked
Intrauterine growth retardation, Minimal change glomerulonephritis, Nephrotic syndrome, Short sta... OMIM:301006
Leiomyomatosis, Diffuse, With Alport Syndrome
Glomerular basement membrane lamellation, Failure to thrive, Abnormal renal physiology, Hematuria... OMIM:308940
Alagille Syndrome 2
Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Proteinuria, Renal insufficiency OMIM:610205
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Tubulointerstitial fibrosis, Hypoalbumine... OMIM:614196
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Nephrocalcinosis, Failure to thrive, Hematuria, Decreased glomerular f... ORPHA:93598
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614870
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Renal Cysts And Diabetes Syndrome
Hypospadias, Renal hypoplasia, Elevated circulating creatinine concentration, Multiple glomerular... OMIM:137920
Hypophosphatemic Rickets, X-Linked Recessive
Short stature, Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephrolithiasis, Renal p... OMIM:300554
Anisocoria
Anisocoria OMIM:106240
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Hepatomegaly, Hydronephrosis, Elevated circulating long chain fatty acid concentrati... OMIM:214100
Primary Fanconi Renotubular Syndrome
Hypouricemia, Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular ... ORPHA:3337
Nephrolithiasis, Calcium Oxalate
Hyperoxaluria, Acute kidney injury, Ureteropelvic junction obstruction, Calcium oxalate nephrolit... OMIM:167030
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Hypercalcemia, Renal insufficiency, Hepatomegaly ORPHA:2123
Apparent Mineralocorticoid Excess
Intrauterine growth retardation, Decreased circulating renin level, Hypokalemia, Nephrocalcinosis... ORPHA:320
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Uveitis, Cor... OMIM:221900
Trichohepatoenteric Syndrome 1
Hypospadias, Increased serum iron, Abnormality of iron homeostasis, Hepatomegaly, Intrauterine gr... OMIM:222470
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Relapsing Fever
Abnormality of the urinary system, Hematuria, Elevated circulating creatinine concentration, Incr... ORPHA:91547
Diffuse Alveolar Hemorrhage
Weight loss, Hematuria, Proteinuria, Elevated circulating creatinine concentration ORPHA:90060
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:136680
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Short stature, Glomerular sclerosis, Stage 5 chronic kidney disease, Diffuse ... OMIM:617730
Hypercalcemia, Infantile, 2
Nephrocalcinosis, Renal phosphate wasting, Medullary nephrocalcinosis, Hypercalciuria, Polyuria OMIM:616963
Arachnoid Cyst
Mydriasis, Urinary incontinence, Urinary bladder sphincter dysfunction ORPHA:2356
Pituitary Apoplexy
Mydriasis, Normochromic anemia ORPHA:95613
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Alport Syndrome
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... ORPHA:63
Muckle-Wells Syndrome
Short stature, Elevated circulating C-reactive protein concentration, Renal insufficiency, Renal ... OMIM:191900
Nephrogenic Diabetes Insipidus
Hypernatremia, Failure to thrive, Enuresis nocturna, Functional abnormality of the bladder, Hydro... ORPHA:223
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Ectopic kidney, Hepatomegaly, Abnormality of the kidney OMIM:613730
Igg4-Related Kidney Disease
Ureteral obstruction, Hydronephrosis, Urinary bladder inflammation, Tubulointerstitial nephritis,... ORPHA:449395
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney disease, Glycosuria, Aminoa... OMIM:618913
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Renal insufficiency, Hyperammonemia ORPHA:79312
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Laurence-Moon Syndrome
Displacement of the urethral meatus, Obesity, Hypoplasia of penis, Renal insufficiency ORPHA:2377
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Polycystic kidney dysplasia, Cataract OMIM:263100
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Iris hypopigmentation, Ocular albinism ORPHA:54
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Sclerocornea, Cataract, Coloboma, Microcornea, Ectopia pupillae OMIM:615877
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis, Short stature OMIM:181180
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency ORPHA:375
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Hypospadias, Renal insufficiency, Nephropathy, Obesity, Nephroblastoma OMIM:194072
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Nocturia, Elevated ... ORPHA:230
Nephronophthisis 11
Renal tubular atrophy, Nephronophthisis, Anemia, Renal corticomedullary cysts, Stage 5 chronic ki... OMIM:613550
Cocaine Intoxication
Mydriasis, Tubulointerstitial nephritis, Hematuria, Acute kidney injury, Glomerulonephritis, Prot... ORPHA:90068
Isolated Polycystic Liver Disease
Hepatomegaly, Multiple renal cysts, Increased total bilirubin ORPHA:2924
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia, Ocular albinism OMIM:614171
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal insufficiency, Glomerulopathy, Prot... ORPHA:347
Tubular Renal Disease-Cardiomyopathy Syndrome
Nephrocalcinosis, Abnormal renal resorption, Hyperprostaglandinuria, Hypermagnesiuria, Hypercalci... ORPHA:73224
Cystinosis
Renal tubular dysfunction, Hypokalemia, Failure to thrive, Hypophosphatemia, Nephropathy, Aminoac... ORPHA:213
Renal Tubular Acidosis, Distal, 1
Renal tubular acidosis, Postnatal growth retardation, Hypocalcemia, Nephrocalcinosis OMIM:179800
Familial Mediterranean Fever, Autosomal Dominant
Proteinuria, Renal insufficiency, Renal amyloidosis OMIM:134610
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Congenital Anomalies Of Kidney And Urinary Tract 1
Ureteropelvic junction obstruction, Stage 5 chronic kidney disease, Vesicoureteral reflux OMIM:610805
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux OMIM:618548
Rhyns Syndrome
Chronic kidney disease, Nephronophthisis, Renal insufficiency, Short stature OMIM:602152
Galloway-Mowat Syndrome 5
Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Anterior uveitis, Iris a... ORPHA:67043
Xfe Progeroid Syndrome
Cachexia, Proteinuria, Renal insufficiency OMIM:610965
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Acquired Ichthyosis
Renal insufficiency ORPHA:454
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting OMIM:241519
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Short stature, Unilateral renal agenesis ORPHA:281090
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Exercise-induced myoglobinuria, Dark urine, Acute ... ORPHA:99845
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, Failure to thrive, Hemolytic-uremic syndrome, Membranoproliferative glomerulo... OMIM:619644
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Highly elevated creatine kinase, Elevated circulating creatine kinase concentration, Exercise-ind... ORPHA:368
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Nephrotic syndrome, Elevated circulating creatinine concentratio... ORPHA:29073
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hyperphosphaturia, Hypercalciuria, Renal phosphate wasting, Nephrolithiasis OMIM:612286
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Growth delay, Hyperlipidemia, Nephrocalcinosis, Short stature, Polycystic ovaries, ... ORPHA:79259
Prune Belly Syndrome
Abnormality of the ureter, Congenital posterior urethral valve, Failure to thrive, Urogenital sin... ORPHA:2970
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, ... OMIM:251000
Alg1-Cdg
Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Hypoalbuminemia ORPHA:79327
Gitelman Syndrome
Hypocalciuria, Renal potassium wasting, Enuresis, Polyuria, Nocturia, Renal magnesium wasting OMIM:263800
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Hydronephrosis, Intrauterine growth retardation, Rhizomelia, Left ventricular hypert... OMIM:611209
Senior-Loken Syndrome 3
Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enuresis, Polyuria OMIM:606995
Coach Syndrome 2
Hyperechogenic kidneys, Elevated circulating creatinine concentration OMIM:619111
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Pancreatic cysts, Growth delay, Stage 5 chronic kidney disease, Splenomegaly, Recur... ORPHA:731
Primary Hyperoxaluria Type 3
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... ORPHA:93600
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hydroureter, Postnatal growth retardation, Nephrolithiasis, Vesicoureteral reflux OMIM:617219
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Hepatomegaly, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal insuff... OMIM:614922
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Galloway-Mowat Syndrome 7
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... OMIM:618348
Autosomal Dominant Hypocalcemia
Hypermagnesiuria, Hypercalciuria, Nephrocalcinosis ORPHA:428
Paroxysmal Nocturnal Hemoglobinuria
Renal Fanconi syndrome, Reduced haptoglobin level, Hemoglobinuria, Unconjugated hyperbilirubinemi... ORPHA:447
Birk-Landau-Perez Syndrome
Hyperechogenic kidneys, Hyperkalemia, Tubulointerstitial nephritis, Renal insufficiency OMIM:617595
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Decreased urine output, Hyperbilirubinemia, Elevated circulating creatinine ... ORPHA:542323
Scorpion Envenomation
Mydriasis, Miosis, Glycosuria, Acute kidney injury, Ketonuria ORPHA:466677
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalcemia, Intrauterine growth retardation, Micropenis, Postnatal growth retarda... OMIM:614732
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Renal cortical adenoma, Nephrolithiasis, Polycystic kidney dysplasia, Papillary re... OMIM:145001
Nephronophthisis 19
Nephronophthisis, Hepatomegaly, Stage 5 chronic kidney disease, Splenomegaly OMIM:616217
Bartter Syndrome, Type 3
Renal salt wasting, Increased urinary potassium, Hypocalciuria, Abnormal choroid morphology, Rena... OMIM:607364
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent i... OMIM:600740
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Micropeni... OMIM:617575
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Short stature, Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Hyperprolinemia Type 2
Prolinuria, Hydroxyprolinuria, Increased urine alpha-ketoglutarate concentration, Hyperglycinemia... ORPHA:79101
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Intrauterine growth retardat... ORPHA:255249
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Nephrocalcinosis, Glycosuria, Large for gestational age, Aminoac... OMIM:616026
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Growth delay, Short stature, Renal cyst OMIM:615583
Cockayne Syndrome Type 1
Failure to thrive, Proteinuria, Renal insufficiency, Increased blood urea nitrogen ORPHA:90321
H Syndrome
Short stature, Delayed puberty, Micropenis, Hepatosplenomegaly, Hypertriglyceridemia, Abnormality... ORPHA:168569
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Renal cyst OMIM:109130
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Hepatomegaly, Myoglobinuria, Tubulointerstitial nephritis, Decreased plas... ORPHA:228308
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Cystathioninuria, Methylmalonic a... OMIM:277400
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypospadias, Small for gestational age, Failure to thrive, Hyperalaninemia, Increased serum pyruv... OMIM:619147
Goodpasture Syndrome
Macroscopic hematuria, Weight loss, Cylindruria, Increased blood urea nitrogen, Erythrocyte cylin... OMIM:233450
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Myh9-Related Disease
Renal insufficiency, Nephritis, Proteinuria, Nephropathy ORPHA:182050
Alternating Hemiplegia Of Childhood
Mydriasis ORPHA:2131
Endocrine-Cerebroosteodysplasia
Hypospadias, Micropenis, Hyperechogenic kidneys, Microphallus, Enlarged kidney OMIM:612651
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Short stature, Renal dysplasia, Nephronophthisis, Renal cyst, Stage 5 chronic kidne... OMIM:266920
Senior-Loken Syndrome 9
Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Obesity OMIM:616629
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Gli... ORPHA:91495
Nephropathy, Deafness, And Hyperparathyroidism
Renal insufficiency, Nephropathy OMIM:256120
Phosphoglycerate Kinase 1 Deficiency