Gene Summary

Name:
collagen, type IV, alpha 3
Synonyms:
alpha3(IV),  tumstatin

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
irregularly shaped pupil Col4a3tm1b(EUCOMM)Wtsi HOM Early adult 3.35×10-05
increased neutrophil cell number Col4a3tm1b(EUCOMM)Wtsi HOM Early adult 3.09×10-08
increased kidney weight Col4a3tm1b(EUCOMM)Wtsi HOM Early adult 1.46×10-18
decreased hemoglobin content Col4a3tm1b(EUCOMM)Wtsi HOM Early adult 4.24×10-08
decreased lymphocyte cell number Col4a3tm1b(EUCOMM)Wtsi HOM Early adult 4.88×10-08
decreased circulating amylase level Col4a3tm1b(EUCOMM)Wtsi HOM   Early adult 4.30×10-05
increased large unstained cell number Col4a3tm1b(EUCOMM)Wtsi HOM Early adult 9.12×10-05
decreased basophil cell number Col4a3tm1b(EUCOMM)Wtsi HOM Early adult 4.98×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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
Aorta  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Gall bladder 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)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
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 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
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
Brain N/A heterozygote 0.0% (0 of 1)
Brain N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 1)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 1)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 1)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 1)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 1)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Skin N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 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 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

Echo

M-Mode Images

32 Images

Adult LacZ

LacZ Images Wholemount

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Col4a3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Col4a3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Col4a3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Deafness-Oligodontia Syndrome
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment ORPHA:3230
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Deafness, Autosomal Dominant 11
Abnormal vestibular function, Vertigo, Bilateral sensorineural hearing impairment OMIM:601317
Deafness, Autosomal Recessive 2
Abnormal vestibular function, Vertigo, Sensorineural hearing impairment OMIM:600060
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... OMIM:615573
Deafness, Autosomal Recessive 89
Sensorineural hearing impairment, Vestibular hypofunction OMIM:613916
Deafness, Autosomal Recessive 84B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 18B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614945
Deafness, Autosomal Recessive 48
Abnormal vestibular function, Profound sensorineural hearing impairment OMIM:609439
Deafness, Autosomal Recessive 94
Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:618434
Deafness, Autosomal Dominant 74
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618140
Deafness, Autosomal Recessive 110
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618094
Deafness, Autosomal Dominant 56
Abnormal vestibular function, Sensorineural hearing impairment OMIM:615629
Deafness, Autosomal Recessive 1A
Abnormal vestibular function, Sensorineural hearing impairment OMIM:220290
Deafness, Autosomal Dominant 71
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Dominant 81
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619500
Deafness, Autosomal Recessive 7
Abnormal vestibular function, Sensorineural hearing impairment OMIM:600974
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... OMIM:617609
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Deafness, Autosomal Dominant 20
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Dominant 6
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment, Abnormal ear morphology OMIM:608565
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Usher Syndrome, Type Ic
Congenital sensorineural hearing impairment, Vestibular hypofunction OMIM:276904
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Sensorineural hearing impairment, Stage 5 chronic kidne... OMIM:614650
Focal Segmental Glomerulosclerosis 5
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi... OMIM:613237
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension OMIM:607832
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Deafness, Autosomal Dominant 4B
Abnormal vestibular function, Sensorineural hearing impairment OMIM:614614
Deafness, Autosomal Recessive 101
Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:615837
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... OMIM:308990
Deafness, Autosomal Recessive 111
Progressive sensorineural hearing impairment OMIM:618145
Deafness, Autosomal Recessive 3
Profound sensorineural hearing impairment OMIM:600316
Deafness, Autosomal Dominant 4A
Progressive sensorineural hearing impairment OMIM:600652
Deafness, Autosomal Recessive 71
Prelingual sensorineural hearing impairment OMIM:612789
Deafness, Autosomal Recessive 62
Prelingual sensorineural hearing impairment OMIM:610143
Deafness, Autosomal Recessive 49
Prelingual sensorineural hearing impairment OMIM:610153
Deafness, Autosomal Recessive 44
Prelingual sensorineural hearing impairment OMIM:610154
Deafness, Autosomal Recessive 83
Prelingual sensorineural hearing impairment OMIM:613685
Deafness, Autosomal Recessive 24
Profound sensorineural hearing impairment OMIM:611022
Deafness, Autosomal Recessive 46
Profound sensorineural hearing impairment OMIM:609647
Deafness, Autosomal Dominant 70
Progressive sensorineural hearing impairment OMIM:616968
Deafness, Autosomal Recessive 28
Severe sensorineural hearing impairment OMIM:609823
Deafness, Autosomal Recessive 40
Prelingual sensorineural hearing impairment OMIM:608264
Deafness, Autosomal Recessive 39
Prelingual sensorineural hearing impairment OMIM:608265
Deafness, Autosomal Recessive 45
Prelingual sensorineural hearing impairment OMIM:612433
Deafness, Autosomal Dominant 5
Progressive sensorineural hearing impairment OMIM:600994
Deafness, Autosomal Dominant 78
Profound sensorineural hearing impairment OMIM:619081
Deafness, Autosomal Dominant 79
Progressive sensorineural hearing impairment OMIM:619086
Deafness, Autosomal Recessive 38
Prelingual sensorineural hearing impairment OMIM:608219
Deafness, Autosomal Recessive 76
Progressive sensorineural hearing impairment OMIM:615540
Deafness, Autosomal Recessive 85
Prelingual sensorineural hearing impairment OMIM:613392
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Deafness, Autosomal Recessive 77
Bilateral sensorineural hearing impairment OMIM:613079
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Deafness, Autosomal Recessive 63
Congenital sensorineural hearing impairment OMIM:611451
Deafness, Autosomal Dominant 83
Bilateral sensorineural hearing impairment OMIM:619808
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment OMIM:618013
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Sensorineural hearing impairment, Chronic kidney diseas... OMIM:615244
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Deafness, Autosomal Dominant 73
Sensorineural hearing impairment OMIM:617663
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment OMIM:618778
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Autosomal Recessive 120
Sensorineural hearing impairment OMIM:620238
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Dominant 84
Sensorineural hearing impairment OMIM:619810
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment OMIM:618481
Deafness, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... ORPHA:567548
Usher Syndrome, Type Iia
Congenital sensorineural hearing impairment OMIM:276901
Usher Syndrome, Type Iic
Congenital sensorineural hearing impairment OMIM:605472
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency, Optic atrophy OMIM:249660
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Elevated circulating creatine kinase concentration, Sensorineural hearing impairment... OMIM:614455
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... OMIM:256300
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Nephrotic Syndrome, Type 22
Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base... OMIM:619155
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Deafness, Autosomal Recessive 119
Sensorineural hearing impairment OMIM:619615
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces... OMIM:617006
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Usher Syndrome, Type If
Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:602083
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Hyperprolinemia Type 1
Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria ORPHA:419
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:212850
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneu... OMIM:613779
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... ORPHA:54370
Deafness, Autosomal Recessive 37
Abnormal vestibular function, Sensorineural hearing impairment OMIM:607821
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... OMIM:620056
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Abnormal ci... OMIM:608709
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Senso... OMIM:617575
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Arthrogryposis, Distal, Type 6
Sensorineural hearing impairment OMIM:108200
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Hypercalcemia, Infantile, 1
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... OMIM:143880
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se... OMIM:617056
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro... OMIM:618348
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia, Hearing impairment OMIM:610896
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:613944
Hematuria, Benign Familial, 2
Sensorineural hearing impairment, Microscopic hematuria, Proteinuria, Abnormal glomerular basemen... OMIM:620320
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Aminoaciduria, Glyco... OMIM:618913
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Hypercalcemia, Infantile, 2
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... OMIM:616963
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria ORPHA:2613
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... OMIM:616818
Galloway-Mowat Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Large earlobe, S... OMIM:617731
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... ORPHA:94088
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Ectodermal Dysplasia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:224800
C1Q Deficiency 1
Membranoproliferative glomerulonephritis OMIM:613652
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert... ORPHA:84090
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... OMIM:104200
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Systemic Lupus Erythematosus 16
Lupus nephritis OMIM:614420
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Abnormal bleeding, Glomerulonephritis OMIM:314000
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... OMIM:256100
Galloway-Mowat Syndrome 6
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased b... OMIM:618347
Iga Nephropathy, Susceptibility To, 1
Purpura, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA dep... OMIM:161950
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... ORPHA:1652
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology OMIM:609886
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Deafness-Infertility Syndrome
Sensorineural hearing impairment ORPHA:94064
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy, Renal insufficiency, Failure to thrive, Hyperammonemia ORPHA:28
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Proteinuria, Atrial fibrillation, Cardiac ... ORPHA:439232
Complement Component 4A Deficiency
Vasculitis, Glomerulonephritis, Purpura OMIM:614380
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Hypouricemia, Renal, 1
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... OMIM:220150
Complement Factor H Deficiency
Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... OMIM:609814
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria, Hypertension ORPHA:2820
Bardet-Biedl Syndrome 10
Renal insufficiency, Obesity, Renal cyst OMIM:615987
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis OMIM:247800
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma, Hearing impairment OMIM:120433
Xanthinuria, Type Ii
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... OMIM:603592
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Hyperammonemia, Hyperlysinuria, Lethargy, Hyperlysinemia OMIM:238750
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Hypospadias, Glomerulonephritis, Proteinuria, Hypsarrh... OMIM:619428
Galactosemia I
Increased level of galactitol in plasma, Albuminuria, Aminoaciduria, Galactosuria, Increased leve... OMIM:230400
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis, Cardiac shunt OMIM:305800
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Preeclampsia
Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr... ORPHA:275555
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Crescentic glo... OMIM:616414
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614376
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials ORPHA:101007
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... OMIM:613845
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Bardet-Biedl Syndrome 18
Renal insufficiency, Stage 5 chronic kidney disease, Obesity OMIM:615995
Bardet-Biedl Syndrome 14
Renal insufficiency, Obesity OMIM:615991
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Cataract, Corneal ero... OMIM:203780
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment OMIM:208750
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Obesity, Recurre... OMIM:615993
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Pulmonary embolism, Hyperlipidemia, Chronic kidney disease, St... ORPHA:567546
Immunodeficiency 50
Recurrent urinary tract infections, Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... OMIM:617585
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... OMIM:248250
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Hematuria, Benign Familial, 1
Hematuria, Thin glomerular basement membrane OMIM:141200
Camos Syndrome
Nephrotic syndrome, Renal insufficiency, Optic atrophy ORPHA:83472
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:619603
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Nathalie Syndrome
Sensorineural hearing impairment ORPHA:2663
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... OMIM:162000
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Uraciluria, Failure to thrive, Optic atrophy OMIM:274270
Congenital Nephrotic Syndrome, Finnish Type
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... ORPHA:839
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Optic atrophy, Ethylmalonic aciduria, Increased... ORPHA:26792
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... ORPHA:347
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... OMIM:618314
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... OMIM:123550
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Sensorineural hearing impairment, Hematuria, Posterior embryotoxon, Ir... ORPHA:1473
Dihydropyrimidinase Deficiency
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Urac... OMIM:222748
Oligomeganephronia
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... ORPHA:2260
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... OMIM:602088
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Renal Hypoplasia, Bilateral
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ... ORPHA:97362
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria, Hearing impairment ORPHA:79087
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chilblains, Failu... OMIM:619858
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Lactica... OMIM:619386
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Arrhyth... ORPHA:225
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Elevated circulating creatinine concentration, Abnormal renal corticom... OMIM:616733
Nephronophthisis 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy OMIM:611498
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria, Hypoalbuminemia OMIM:614652
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Glycine Encephalopathy 1
Hyperglycinemia, Hyperglycinuria, Lethargy OMIM:605899
Deafness, Autosomal Dominant 86
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus OMIM:620280
Hydroxyprolinemia
Hydroxyprolinemia, Microscopic hematuria OMIM:237000
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:617729
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria OMIM:189800
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri... ORPHA:79233
Palmoplantar Keratoderma-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2202
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome OMIM:123540
Type 1 Diabetes Mellitus
Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Decreased serum creatinine, A... ORPHA:54057
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Sensori... OMIM:607426
Lethal Infantile Mitochondrial Myopathy
Lethargy, Renal insufficiency ORPHA:254857
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... ORPHA:228302
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Leiomyomatosis, Diffuse, With Alport Syndrome
High-frequency sensorineural hearing impairment, Renal insufficiency, Glomerular basement membran... OMIM:308940
Glycogen Storage Disease Xi
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... OMIM:612933
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Hypercalcemia, Pulsatile tinnitus, Elevated urinary norepinephrine level, Conductive... ORPHA:276621
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increased blood ur... ORPHA:251004
Dent Disease 2
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... OMIM:300555
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria OMIM:245900
Nephronophthisis
Renal insufficiency ORPHA:655
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:261670
Glutaric Acidemia Type 3
Ketonuria, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated circulating gluta... ORPHA:35706
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Optic atrophy, Hyperammonemia, Renal tubular dysfunction, Lethargy, Pancreat... ORPHA:289916
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration OMIM:160010
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... ORPHA:976
Neutropenia-Monocytopenia-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2690
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Optic atrophy, Hyperammonemia, Lethargy, Failure to thrive, Pancreatitis ORPHA:79312
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Hyperuricemia... ORPHA:411536
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Cardiomyopathy, Nephropathy, Abnormal renal tu... ORPHA:1909
Immunodeficiency 91 And Hyperinflammation
Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Elevated ... OMIM:619644
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, D... ORPHA:49041
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Central Diabetes Insipidus
Hyponatremia, Depression, Weight loss, Lethargy, Failure to thrive, Nocturia ORPHA:178029
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia ORPHA:2668
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... OMIM:613090
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Optic a... OMIM:251300
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Hyperuricemia, Gout ORPHA:510
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Proteinuria, Pneumonia, Skin rash, Elevated circulating creatinine concentration, Depression, Apa... ORPHA:247691
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Elevated circulating C-reactive protein concentration, Stage ... OMIM:615559
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Angioma, Hereditary Neurocutaneous
Hematuria OMIM:106070
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Amyloidosis, Familial Visceral
Proteinuria, Skin rash, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Aganglionic megacolon, Chronic kidney dis... ORPHA:261222
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Failure to thrive, Let... OMIM:611590
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Hypouricemia, Xanthin... ORPHA:3467
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Nephrotic syndrome, Membranous nephropathy, Colonic eosinophilia, Failure to t... OMIM:618999
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Lethargy,... OMIM:236270
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase concentration, Hypera... OMIM:618120
Glycogen Storage Disease Ia
Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Hyperuric... OMIM:232200
Uremic Pruritus
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... ORPHA:94059
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Absence of renal corticom... OMIM:120330
Coach Syndrome 3
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... OMIM:619113
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic syndrome, Elevate... OMIM:274150
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Elevated circulating creatinine concentration, Increased blood urea nitr... OMIM:223900
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment OMIM:238340
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Aicardi-Goutieres Syndrome 9
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Chilblains, Acute pancreati... OMIM:619487
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Renal insufficiency, Increased circulating NT-proBNP c... ORPHA:85443
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445