Gene Summary

Name:
vesicle-associated membrane protein 8
Synonyms:
endobrevin

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.

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Viewing: all phenotypes
Select physiological systems to view:
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)
Bone  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)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Heart  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)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Olfactory lobe  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)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Peyer's patch  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 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)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Midbrain 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)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
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 Ambiguous
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
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 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote Ambiguous
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 100% (2 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 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 100% (2 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote Ambiguous
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 2)
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 584)
aorta 0.17% (1 of 584)
bone 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

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 Dorso Ventral

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Adult LacZ

LacZ Images Section

37 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Auditory Brain Stem Response

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

7 Images

Human diseases caused by Vamp8 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 Vamp8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Athrombia, Essential
Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time OMIM:209050
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... OMIM:619130
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet ... OMIM:187950
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Thrombocytopenia, Impaired ADP-induced platele... OMIM:173590
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time OMIM:615888
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced ... OMIM:619267
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Senior-Loken Syndrome 1
Nephronophthisis, Polydipsia, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal platelet function ORPHA:231393
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Von Willebrand Disease
Abnormal thrombocyte morphology, Abnormal platelet function ORPHA:903
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Renal Glucosuria
Polyphagia, Polyuria, Glycosuria, Enuresis nocturna, Polydipsia OMIM:233100
Senior-Loken Syndrome 4
Nephronophthisis, Polydipsia, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Urofacial Syndrome 2
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... OMIM:615112
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia, Prolonged bleeding time OMIM:173420
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Congenital Primary Megaureter
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... ORPHA:617
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Myopathy Due To Malate-Aspartate Shuttle Defect
Red urine OMIM:254960
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Re... OMIM:256100
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Platelet... OMIM:187800
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting OMIM:619406
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Glanzmann Thrombasthenia 1
Impaired platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction... OMIM:273800
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Elevated total serum tryptase, Maculopapular... ORPHA:98848
Diabetes Insipidus, Neurohypophyseal Type
Polydipsia, Polyuria, Hydronephrosis OMIM:304900
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Hyponatremia, Increased circulating renin level, Rena... OMIM:610600
Hypocalcemia, Autosomal Dominant 1
Abnormal renal physiology, Hypocalcemia, Increased circulating renin level, Hypercalciuria, Hypok... OMIM:601198
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Proximal tubulopathy, Increased serum prostaglandin E2, Increas... OMIM:241150
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral re... ORPHA:2704
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Enuresis, Renal corticomedullary cysts, Stage 5 chronic kidney diseas... OMIM:606995
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Hyperbiliverdinemia
Green urine OMIM:614156
Type 1 Diabetes Mellitus
Polydipsia, Polyuria, Polyphagia OMIM:222100
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Vesicoureteral Reflux 3
Vesicoureteral reflux, Hydronephrosis, Hydroureter OMIM:613674
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Increased circulating renin level, Hypochloremia, Hypercalciuria, Hypokal... OMIM:300971
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Renal sodium wa... ORPHA:556037
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Cutaneous Mastocytoma
Cutaneous mastocytosis ORPHA:79455
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glomerulonephr... OMIM:613496
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Increased circulating renin level, Renal salt wasting, Decreased circulating aldost... OMIM:203400
Hinman Syndrome
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... ORPHA:84085
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
+173470 integrin, beta-3
Impaired platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thro... OMIM:173470
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperactive renin-angiotensin system, Increased circulating renin level, Hyperaldos... OMIM:177735
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Renal tubular epithelial necrosis, Tubulointerstitial nephritis, Stage 5 chronic... ORPHA:228302
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Dysphagia, Dark urine, Chronic kidney disease, Recurrent myoglobinuria, Exer... ORPHA:368
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:605115
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Renal sodium wa... ORPHA:556030
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:614817
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria ORPHA:98895
Harderoporphyria
Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urine OMIM:618892
Nephronophthisis 11
Nephronophthisis, Polyuria, Renal tubular atrophy, Renal corticomedullary cysts, Tubular basement... OMIM:613550
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia OMIM:617443
Acquired Central Diabetes Insipidus
Polydipsia, Pollakisuria ORPHA:95626
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Hereditary Coproporphyria
Porphyrinuria, Dark urine, Nephropathy, Increased urinary porphobilinogen, Elevated urinary delta... ORPHA:79273
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Elevated total serum tryptase, Leukocytosis, Maculopapu... ORPHA:98850
Quebec Platelet Disorder
Impaired epinephrine-induced platelet aggregation, Thrombocytopenia OMIM:601709
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Postnatal growth retardation... OMIM:232700
Xanthinuria, Type I
Pyelonephritis, Xanthinuria, Hydronephrosis, Xanthine nephrolithiasis OMIM:278300
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Urethral valve, Recurrent urinary tract infections, Enuresis, ... OMIM:236730
Dubin-Johnson Syndrome
Abnormal urinary color ORPHA:234
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Prolonged bleeding time, Giant platelets OMIM:608404
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Hy... OMIM:191800
Idiopathic Steroid-Resistant Nephrotic Syndrome
Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnormal glomerular viscera... ORPHA:567548
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Polydipsia, Recurrent urinary tract infections,... OMIM:248250
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Prolonged bleeding time, Abnormal alpha granule content, Abnormal ... OMIM:601399
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color ORPHA:90037
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Mild proteinuria, Stage 5 chronic kidney disease OMIM:614377
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Nephronophthisis 18
Nephronophthisis, Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:615862
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Coach Syndrome 3
Renal interstitial fibrosis, Nephronophthisis, Renal interstitial inflammation, Renal tubular atr... OMIM:619113
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Cold Agglutinin Disease
Abnormal urinary color ORPHA:56425
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Unilateral renal agenesis, Abnormality of medullary p... ORPHA:2260
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Gray Platelet Syndrome
Prolonged bleeding time, Abnormal number of alpha granules, Impaired thrombin-induced platelet ag... OMIM:139090
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... OMIM:174000
East Syndrome
Enuresis, Renal salt wasting, Increased circulating renin level, Hyperaldosteronism, Renal sodium... ORPHA:199343
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Bartter Syndrome, Type 3
Hypocalciuria, Renal potassium wasting, Polyuria, Hyperactive renin-angiotensin system, Increased... OMIM:607364
Autoimmune Hemolytic Anemia
Abnormal urinary color ORPHA:98375
Joubert Syndrome 4
Nephronophthisis, Renal insufficiency, Abnormal renal medulla morphology OMIM:609583
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color ORPHA:90036
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Liddle Syndrome 1
Decreased circulating renin level, Renal insufficiency, Hypokalemia, Decreased circulating aldost... OMIM:177200
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Increased circulating androstenedione ... ORPHA:90791
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Hereditary Xanthinuria
Decreased urinary urate, Hematuria, Acute kidney injury, Xanthinuria, Xanthine nephrolithiasis, I... ORPHA:3467
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia, Prolonged bleeding time OMIM:277480
Medullary cystic kidney disease 2
Multiple renal cysts, Enuresis, Renal tubular atrophy, Renal corticomedullary cysts, Tubulointers... OMIM:603860
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Increased circulating renin level, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:171876
Nephronophthisis 16
Nephronophthisis, Renal insufficiency, Polycystic kidney dysplasia, Enlarged kidney OMIM:615382
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Decreas... ORPHA:2442
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Bernard-Soulier Syndrome
Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time, Gian... OMIM:231200
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Renal salt wasting, Adrenal insufficiency, Proxi... ORPHA:427
Hartnup Disease
Neutral hyperaminoaciduria, Abnormal urinary color ORPHA:2116
Porphyria
Abnormal urinary color ORPHA:738
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst OMIM:613390
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hyperaldosteronism, Hypercalciuria, Decreased circulating renin level, Hypokalemia, Adr... OMIM:613677
Senior-Loken Syndrome
Nephronophthisis, Chronic kidney disease, Stage 5 chronic kidney disease ORPHA:3156
Nephronophthisis 15
Nephronophthisis OMIM:614845
Apparent Mineralocorticoid Excess
Abnormal urine sodium concentration, Renal insufficiency, Nephrocalcinosis, Polydipsia ORPHA:320
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney ORPHA:195
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypocalciuria, Renal potassium wasting, Polyuria, Enuresis, Renal salt wasting, Increased circula... OMIM:612780
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color ORPHA:90033
Central Diabetes Insipidus
Nocturia, Polydipsia ORPHA:178029
Nephrogenic Diabetes Insipidus
Hyposthenuria, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Renal insuf... ORPHA:223
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... OMIM:308990
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
High palate, Short stature, Cutaneous mastocytosis OMIM:248910
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Elevated total serum tryptase, Leukocytosis, Chronic lymphatic leukemia, Normoc... ORPHA:98849
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation OMIM:614076
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Tubulointerstitial ne... ORPHA:157
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Bardet-Biedl Syndrome 9
Renal insufficiency, Polydipsia, Polyphagia OMIM:615986
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Impaired neutrophil chemotaxis, Reduced natural ki... OMIM:619374
Posterior Urethral Valve
Dysuria, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Unilateral renal ... ORPHA:93110
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Dysphagia, Hydronephrosis, Aminoaciduria OMIM:617913
Myopathy, Congenital, Progressive, With Scoliosis
Dysphagia, Hydronephrosis, Renal atrophy OMIM:618578
Porphyria Due To Ala Dehydratase Deficiency
Increased urinary porphobilinogen, Purple urine ORPHA:100924
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Pediatric Systemic Lupus Erythematosus
Hematuria, Abnormality of the urinary system, Dark urine, Nephrotic syndrome, Renal insufficiency... ORPHA:93552
Acute Intermittent Porphyria
Dysuria, Pseudobulbar paralysis, Dark urine, Elevated urinary delta-aminolevulinic acid, Urinary ... ORPHA:79276
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Absence of renal corticomedullary differentiation, Stage 5 chr... OMIM:602088
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Ureteral atresia, Hydronephrosis OMIM:183802
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Megacystis, Polyuria OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked
Polydipsia, Megacystis, Polyuria OMIM:304800
Helix Syndrome
Hypocalciuria, Polyuria, Renal insufficiency, Polydipsia, Nephrolithiasis OMIM:617671
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Tubulointerstitial ne... ORPHA:228308
Ch├ędiak-Higashi Syndrome
Increased circulating ferritin concentration, Skin rash, Vacuolated lymphocytes, Recurrent bacter... ORPHA:167
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Red-brown urine, Myoglobinuria ORPHA:228305
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone level OMIM:218030
Joubert Syndrome 15
Nephronophthisis, Micropenis OMIM:614464
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Hydronephrosis ORPHA:85285
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Polydipsia, Renal potassium ... ORPHA:18
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal urine potassium concentration, Delayed puberty, Decreased circulating aldosterone level,... ORPHA:289548
Acute Adrenal Insufficiency
Androgen insufficiency, Renal insufficiency, Adrenal hypoplasia, Primary adrenal insufficiency, D... ORPHA:95409
Cystinosis
Aminoaciduria, Nephropathy, Renal insufficiency, Renal tubular dysfunction, Polydipsia, Proteinuria ORPHA:213
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Urogenital sinus anomaly, Elevated circulating luteinizing hormone level, D... ORPHA:168558
Hereditary Chronic Pancreatitis
Leukocytosis, Recurrent pancreatitis, Jaundice, Pancreatic calcification, Elevated circulating C-... ORPHA:676
Addison Disease
Androgen insufficiency, Hyperkalemia, Adrenal hypoplasia, Adrenal calcification, Primary adrenal ... ORPHA:85138
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Abnormal response to ACTH stimulation ... ORPHA:90793
Gitelman Syndrome
Hypocalciuria, Nocturia, Renal potassium wasting, Polyuria, Enuresis, Increased circulating renin... OMIM:263800
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Premature pubarche, Premature ad... ORPHA:90795
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Hermansky-Pudlak Syndrome 6
Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet granules OMIM:614075
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Renal agenesis, Dysphagia, Hydronephrosis OMIM:618494
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Thyroiditis, Postnatal growth retardation, Delayed puberty, Shor... OMIM:618985
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Hyposthenuria, Renal potassium wasting, Polyuria, Hyperactive renin-angioten... OMIM:601678
Diffuse Cutaneous Mastocytosis
Erythroderma, Hepatomegaly, Leukemia, Malabsorption, Cutaneous mastocytosis ORPHA:79456
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Polydipsia ORPHA:251274
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis OMIM:618265
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydronephrosis OMIM:618161
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Poikiloderma With Neutropenia
Recurrent otitis media, Recurrent sinusitis, Increased circulating lactate dehydrogenase concentr... OMIM:604173
Nephronophthisis 19
Nephronophthisis, Stage 5 chronic kidney disease OMIM:616217
Infantile Bartter Syndrome With Sensorineural Deafness
Impaired renal concentrating ability, Acute kidney injury, Hyperactive renin-angiotensin system, ... ORPHA:89938
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time ORPHA:849
Primary Unilateral Adrenal Hyperplasia
Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased cir... ORPHA:231580
Primary Parathyroid Hyperplasia
Polydipsia, Dysphagia, Hypercalciuria, Renal insufficiency, Nephrocalcinosis, Nephrolithiasis ORPHA:99878
Jeune Syndrome
Nephronophthisis, Renal insufficiency, Nephropathy ORPHA:474
Dystonia-Aphonia Syndrome
Abnormal urinary odor, Dysphagia ORPHA:412217
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Increased circulating cortisol level, Neoplasm of the adrenal gland, Increased urinary potassium,... ORPHA:231625
Mental Retardation, Autosomal Dominant 42
Hydronephrosis OMIM:616973
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Thrombocytopenia, Abnormal platelet morphology OMIM:300835
Primary Hyperoxaluria Type 3
Abnormality of urine homeostasis, Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithi... ORPHA:93600
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Polyuria, Aminoaciduria, Hypercalciuria, Polydipsia OMIM:239200
Acrorenal Syndrome, Autosomal Recessive
Renal hypoplasia, Renal insufficiency, Decreased numbers of nephrons OMIM:201310
Senior-Loken Syndrome 9
Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease OMIM:616629
Mastocytosis
Chronic leukemia, Hepatomegaly, Hypercalcemia, Splenomegaly, Mastocytosis, Acute leukemia ORPHA:98292
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal activity, Cholelithiasis, Jaund... OMIM:613470
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Renal agenesis OMIM:212780
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Chronic kidney disease OMIM:617661
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Atresia Of Urethra
Megacystis, Hydroureter, Recurrent urinary tract infections, Renal dysplasia, Vesicoureteral refl... ORPHA:105
Von Willebrand Disease, Type 1
Impaired platelet aggregation, Prolonged bleeding time OMIM:193400
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Low-molecular-weight proteinuria, Proximal tubulopathy, Abnormal urine p... ORPHA:411634
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal insufficiency, Renal agenesis, Acute kidney injury, Horseshoe kidney, Multicystic kidney dy... ORPHA:93111
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive primary hyperaldostero... ORPHA:231632
Lymphangioleiomyomatosis
Renal neoplasm, Multiple renal cysts, Abnormal urinary color, Hematuria, Renal angiomyolipoma ORPHA:538
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Elevated serum 11-deoxycortisol,... OMIM:202010
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Recurrent pneumonia, Hemolytic anemia, Lymphadenitis, Impaired oxidative burst, Lymphope... OMIM:618935
Meier-Gorlin Syndrome 8
Renal hypoplasia OMIM:617564
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia OMIM:603585
Bartter Syndrome, Type 2, Antenatal
Hyposthenuria, Renal potassium wasting, Polyuria, Hyperactive renin-angiotensin system, Increased... OMIM:241200
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Hypokalemia, Nephrolithiasis OMIM:615474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal dysplasia, Micropenis, Renal cyst, Hydronephrosis OMIM:615287
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Vesicouret... ORPHA:107
Tetraploidy
Renal hypoplasia/aplasia, Hydronephrosis ORPHA:3305
Distal Trisomy 6P
Renal hypoplasia, Abnormality of the urinary system, Hydronephrosis ORPHA:1745
Prune Belly Syndrome
Urethral valve, Hydronephrosis, Congenital posterior urethral valve, Hydroureter OMIM:100100
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria, Abnormal tubuloin... ORPHA:411629
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis OMIM:613735
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Nephropathy, Renal dysplasia, Renal cyst, Stage 5 chronic kidney disease OMIM:266920
Maculopapular Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:79457
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Renal tubular atrophy, Renal corticomedullary cysts, Tubular basement membrane ... OMIM:613159
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Renal tubular acidosis, Renal cyst, Renal insufficiency, Proteinuria OMIM:610205
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Nephrolithiasis ORPHA:369929
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Endove Syndrome, Limb-Brain Type
Neurogenic bladder, Recurrent urinary tract infections, Hydronephrosis OMIM:619218
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Hydroureter, Multicystic kidney dysplasia, Abnormality of the urethra, ... ORPHA:2973
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Hyperechogenic kidneys OMIM:617914
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Renal dysplasia OMIM:616733
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Glomerulonephritis, Stage 5 chronic kidney disease, Chronic tubulointerstitial ... OMIM:614376
Rhyns Syndrome
Nephronophthisis, Renal insufficiency, Chronic kidney disease OMIM:602152
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Renal cyst OMIM:228940
Wolfram Syndrome 1
Neurogenic bladder, Dysphagia, Hydronephrosis, Hydroureter OMIM:222300
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Dysphagia, Hypercalciuria, Nephroblastoma, Renal hamartoma, Renal cyst, Renal insuffi... ORPHA:99880
Joubert Syndrome 7
Nephronophthisis, Renal cyst OMIM:611560
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis OMIM:619217
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation OMIM:619172
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Parathyroid Carcinoma
Polydipsia, Dysphagia, Hypercalciuria, Nephroblastoma, Renal hamartoma, Renal cyst, Renal insuffi... ORPHA:143
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hydronephrosis, Hypospadias OMIM:611209
Senior-Loken Syndrome 8
Nephronophthisis OMIM:616307
Papillorenal Syndrome
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Leprechaunism
Long penis, Hyperinsulinemia, Enlarged kidney, Central hypothyroidism, Increased circulating reni... ORPHA:508
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hematuria, Urinary bladder inflammation, Renal dysplasia, Hydronephrosis, Urethral stricture, Apl... ORPHA:79403
Familial Cold Urticaria
Polydipsia ORPHA:47045
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis OMIM:616449
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Hennekam-Beemer Syndrome
High palate, Mastocytosis, Pneumonia, Short stature ORPHA:2135
Mirizzi Syndrome
Dark urine ORPHA:521219
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Pneumonia, Reduction of neutrophil motility, Short stature... OMIM:266265
Joubert Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease OMIM:608629
Aapoaiv Amyloidosis
Renal amyloidosis, Glomerular sclerosis, Chronic kidney disease, Abnormal renal medulla morpholog... ORPHA:439232
Sitosterolemia 1
Impaired platelet aggregation, Giant platelets OMIM:210250
Hepatoerythropoietic Porphyria
Red-brown urine, Red urine, Purple urine ORPHA:95159
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Renal ins... ORPHA:1475
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Decreased platelet glycoprotei... ORPHA:274
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Absence of renal corticomedullary differentiation, ... OMIM:263200
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Renal hypoplasia, Renal dysplasia, Urethral obstruction, Hypertrophy of the urinary bladder OMIM:601389
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Increased urinary potassium, Renal salt wa... OMIM:602522
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation OMIM:614077
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Recombinant Chromosome 8 Syndrome
Hydronephrosis OMIM:179613
Netherton Syndrome
Ectopic kidney, Aminoaciduria, Hydronephrosis ORPHA:634
Diabetic Embryopathy
Renal hypoplasia/aplasia, Ureteral duplication, Micropenis, Hydronephrosis ORPHA:1926
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormal localization of kidney, Abnormality of the ureter, Hy... ORPHA:1834
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Renal insuf... OMIM:600740
Cystinosis, Nephropathic
Generalized aminoaciduria, Dysphagia, Polyuria, Glycosuria, Oral-pharyngeal dysphagia, Microscopi... OMIM:219800
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hematuria, Acute kidney injury, Renovascular hypertension, ... ORPHA:49041
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Abnormal e... ORPHA:288
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Short stature, Postnatal growth retardation, Decreased response to growth ... OMIM:615925
Ritscher-Schinzel Syndrome 1
Hypospadias, Hydronephrosis OMIM:220210
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus OMIM:266810
Isolated Biliary Atresia
Dark yellow urine ORPHA:30391
Trisomy 13
Displacement of the urethral meatus, Multiple renal cysts, Hydronephrosis, Abnormality of the ureter ORPHA:3378
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hydronephrosis, Hypoplasia of penis ORPHA:2083
Porphyria, Congenital Erythropoietic
Pink urine OMIM:263700
Webb-Dattani Syndrome
Neurogenic bladder, Vesicoureteral reflux, Hydronephrosis OMIM:615926
Bardet-Biedl Syndrome 3
Renal hypoplasia OMIM:600151
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Renal cyst OMIM:615583
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Chronic kidney disease OMIM:615630
Cardiac Valvular Defect, Developmental
Urethral diverticulum, Hydronephrosis, Hydroureter OMIM:212093
Septo-Optic Dysplasia Spectrum
Polydipsia, Hypoplasia of penis ORPHA:3157
Erdheim-Chester Disease
Dysuria, Renal insufficiency, Polydipsia, Hydronephrosis ORPHA:35687
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria OMIM:619053
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hydronephrosis, Polycystic kidney dysplasia, Long-chain dicarboxylic aciduria, R... OMIM:608836
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Hydronephrosis OMIM:609757
Wolfram Syndrome
Dysuria, Abnormality of the urinary system, Recurrent urinary tract infections, Nephropathy, Poly... ORPHA:3463
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma ORPHA:542592
Congenital Erythropoietic Porphyria
Porphyrinuria, Red-brown urine, Increased urinary porphobilinogen, Purple urine ORPHA:79277
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent pneumonia, Osteomyelitis, Eczematoid dermatitis, Lymphadenitis, Recurrent bacterial ski... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent pneumonia, Osteomyelitis, Eczematoid dermatitis, Lymphadenitis, Recurrent bacterial ski... OMIM:233710
22Q11.2 Duplication Syndrome
Urethral stenosis, Displacement of the urethral meatus, Hydronephrosis ORPHA:1727
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Decreased circulating antibody level, Postnatal growth retardation, Colitis,... OMIM:615190
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
9Q21.13 Microdeletion Syndrome
Hydronephrosis ORPHA:531151
Joubert Syndrome 6
Nephronophthisis, Stage 5 chronic kidney disease OMIM:610688
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Renal hypoplasia, Recurrent urinary tract infections, Unilateral renal... OMIM:614527
Panhypophysitis
Polydipsia, Hyposthenuria ORPHA:95513
Visceral Myopathy 1
Megacystis, Dysphagia, Vesicoureteral reflux, Urinary retention, Hydronephrosis OMIM:155310
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Abnormality of the urinary system, Renal dysplasia, Abnormality of the uret... ORPHA:158684
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple... OMIM:216360
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Vacterl/Vater Association
Renal agenesis, Multicystic kidney dysplasia, Abnormality of the urethra, Ectopic kidney, Hydrone... ORPHA:887
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Osteomyelitis, Eczematoid dermatitis, Lymphadenitis, Recurrent bacterial ski... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent pneumonia, Osteomyelitis, Eczematoid dermatitis, Lymphadenitis, Recurrent bacterial ski... OMIM:233690
Mungan Syndrome
Renal hypoplasia, Vesicoureteral reflux OMIM:611376
Hardikar Syndrome
Hydroureter, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Ureteral ... OMIM:612726
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocytopenia ORPHA:324636
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Reduced natural killer cell activity, Impaired ADP-induced platelet aggr... OMIM:608233
Gitelman Syndrome
Focal segmental glomerulosclerosis, Nocturia, Renal potassium wasting, Enuresis, Urinary incontin... ORPHA:358
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Recurrent urinary tract infections, Oliguria, Reduced renal... ORPHA:731
Penile Agenesis
Unilateral renal hypoplasia, Hydroureter, Bilateral renal agenesis, Cystic renal dysplasia, Ureth... ORPHA:49
Toxic Epidermal Necrolysis
Dysuria, Dysphagia, Abnormality of the urethra, Renal insufficiency, Polydipsia ORPHA:537
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Renal corticomedullary cysts OMIM:219730
Distal Tetrasomy 15Q
Horseshoe kidney, Nephroblastoma, Polycystic kidney dysplasia, Hydronephrosis, Abnormality of the... ORPHA:314588
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:614922
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Micropenis, Hydronephrosis OMIM:616897
Czeizel-Losonci Syndrome
Congenital megaureter, Abnormality of the urinary system, Hydronephrosis, Ureteral agenesis ORPHA:2437
Trisomy 1Q
Congenital megaureter, Hydronephrosis, Multicystic kidney dysplasia ORPHA:261344
Igg4-Related Aortitis
Hydronephrosis ORPHA:449400
Developmental Delay With Or Without Dysmorphic Facies And Autism
Microphallus, Renal hypoplasia, Vesicoureteral reflux, Renal cyst, Hydronephrosis OMIM:618454
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Dysphagia, Vesicoureteral reflux, Hydronephrosis OMIM:618460
Trisomy 17P
Urethral valve, Urethral stenosis, Hydronephrosis, Polycystic kidney dysplasia, Hypoplasia of penis ORPHA:261290
Rabson-Mendenhall Syndrome
Polydipsia, Nephrocalcinosis, Long penis ORPHA:769
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Renal dysplasia, Vesicoureteral reflux, Hydronephrosis, Polycystic kid... ORPHA:2237
Suleiman-El-Hattab Syndrome
Hydronephrosis OMIM:618950
Pediatric-Onset Graves Disease
Polydipsia, Polyphagia ORPHA:525731
Igg4-Related Kidney Disease
Ureteral obstruction, Hematuria, Acute kidney injury, Albuminuria, Enlarged kidney, Abnormal uret... ORPHA:449395
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal agenesis, Horseshoe kidney, Bifid ureter, Decreased numbers of nephrons, Renal hypoplasia, ... OMIM:617641
Intellectual Disability, Buenos-Aires Type
Hydronephrosis ORPHA:3079
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Vesicoureteral reflux, Hydronephrosis, Hypospadias, Micropenis OMIM:301056
Tarp Syndrome
Horseshoe kidney, Hydronephrosis OMIM:311900
Duane-Radial Ray Syndrome
Crossed fused renal ectopia, Renal malrotation, Horseshoe kidney, Renal hypoplasia, Vesicouretera... OMIM:607323
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Hydronephrosis ORPHA:364028
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Recurrent bacterial skin infections, Periodontitis, Im... OMIM:214500
Fraser Syndrome 2
Renal hypoplasia, Renal agenesis, Aplasia of the bladder OMIM:617666
Microphthalmia, Syndromic 9
Horseshoe kidney, Renal malrotation, Renal hypoplasia, Hydronephrosis, Pelvic kidney OMIM:601186
Zellweger Syndrome
Hypospadias, Hydronephrosis, Multicystic kidney dysplasia ORPHA:912
Pyruvate Dehydrogenase E1-Alpha Deficiency
Abnormality of medullary pyramid morphology ORPHA:79243
Koolen-De Vries Syndrome
Vesicoureteral reflux, Hydronephrosis, Hypospadias, Ureteral duplication, Renal duplication ORPHA:96169
Meckel Syndrome 12
Renal hypoplasia, Renal agenesis, Ureteral hypoplasia OMIM:616258
3C Syndrome
Hypospadias, Hydronephrosis, Hypoplasia of penis ORPHA:7
Melnick-Needles Syndrome
Vesicoureteral reflux, Hydronephrosis ORPHA:2484
Feingold Syndrome Type 1
Nephritis, Horseshoe kidney, Renal dysplasia, Vesicoureteral reflux, Hydronephrosis, Renal insuff... ORPHA:391641
Trisomy 20P
Multiple renal cysts, Abnormality of the ureter, Abnormal localization of kidney, Hydronephrosis,... ORPHA:261318
Chromosome 2P16.1-P15 Deletion Syndrome
Micropenis, Hydronephrosis OMIM:612513
Branchio-Oculo-Facial Syndrome
Renal agenesis, Hydronephrosis, Multicystic kidney dysplasia ORPHA:1297
Noonan Syndrome 4
Ureteral duplication, Hydronephrosis OMIM:610733
Kleefstra Syndrome
Vesicoureteral reflux, Renal cyst, Hydronephrosis, Hypospadias, Renal insufficiency, Micropenis, ... ORPHA:261494
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis OMIM:619179
Micro Syndrome
Hydronephrosis, Hypoplasia of penis, Abnormal localization of kidney ORPHA:2510
Autosomal Recessive Spastic Paraplegia Type 20
Dysuria, Dysphagia, Hydronephrosis ORPHA:101000
Mckusick-Kaufman Syndrome
Glandular hypospadias, Urogenital sinus anomaly, Multicystic kidney dysplasia, Hydronephrosis, Ur... ORPHA:2473
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Decreased numbers of nephrons, Renal hypoplasia, Proteinuria, Unilater... OMIM:137920
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Hydronephrosis OMIM:104350
Joubert Syndrome 2
Abnormal renal physiology, Nephronophthisis, Renal cyst OMIM:608091
Arima Syndrome
Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cyst... OMIM:243910
Marden-Walker Syndrome
Renal agenesis, Hydroureter, Abnormal penis morphology, Abnormality of the urinary system, Multic... ORPHA:2461
Peroxisome Biogenesis Disorder 1A (Zellweger)
Albuminuria, Aminoaciduria, Hydronephrosis, Hypospadias, Renal cortical microcysts OMIM:214100
Encephalocraniocutaneous Lipomatosis
Hydronephrosis, Pelvic kidney OMIM:613001
Pfeiffer Syndrome Type 3
Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis ORPHA:93260
Frontometaphyseal Dysplasia 1
Hydronephrosis, Hydroureter OMIM:305620
Johanson-Blizzard Syndrome
Hypospadias, Hydronephrosis, Hypoplasia of penis ORPHA:2315
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Hydronephrosis ORPHA:541423
Adams-Oliver Syndrome 6
Renal hypoplasia OMIM:616589
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Bladder trabeculation, Ureteral hypoplasia, Renal dysplasia, Vesicoureteral reflux, Hydronephrosi... OMIM:614080
Multiple Endocrine Neoplasia Type 4
Parathyroid hyperplasia, Abnormality of pancreas physiology, Parathyroid carcinoma, Esophagitis, ... ORPHA:276152
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Renal hypoplasia, Ureteropelvic junction obstruction, Hydronephrosis OMIM:618975
Joubert Syndrome 5
Nephronophthisis, Impaired renal concentrating ability, Renal cortical cysts, Stage 5 chronic kid... OMIM:610188
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis ORPHA:457193
Mosaic Trisomy 9
Multiple renal cysts, Horseshoe kidney, Renal dysplasia, Hydronephrosis, Hypoplasia of penis ORPHA:99776
2P15P16.1 Microdeletion Syndrome
Dysphagia, Hydronephrosis, Multicystic kidney dysplasia ORPHA:261349
Baller-Gerold Syndrome
Vesicoureteral reflux, Hydronephrosis, Abnormal localization of kidney, Abnormality of the ureter ORPHA:1225
Whipple Disease
Polydipsia ORPHA:3452
Pallister-Hall Syndrome
Hydroureter, Renal hypoplasia, Renal dysplasia, Renal cyst, Ectopic kidney, Hydronephrosis, Dista... OMIM:146510
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:85201
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Micropenis, Hydronephrosis OMIM:235255
Carey-Fineman-Ziter Syndrome
Glandular hypospadias, Hydronephrosis ORPHA:1358
Pearson Syndrome
Hypocalcemia, Reticulocytosis, Neutropenia, Pancreatic fibrosis, Postnatal growth retardation, Pa... ORPHA:699