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
decreased lymphocyte cell number Col4a3tm1b(EUCOMM)Wtsi HOM   Early adult 4.88×10-08
decreased basophil cell number Col4a3tm1b(EUCOMM)Wtsi HOM   Early adult 4.98×10-05
increased neutrophil cell number Col4a3tm1b(EUCOMM)Wtsi HOM   Early adult 3.09×10-08
decreased hemoglobin content Col4a3tm1b(EUCOMM)Wtsi HOM   Early adult 4.24×10-08
irregularly shaped pupil Col4a3tm1b(EUCOMM)Wtsi HOM Early adult 2.85×10-05
decreased circulating amylase level Col4a3tm1b(EUCOMM)Wtsi HOM   Early adult 4.48×10-05
increased kidney weight Col4a3tm1b(EUCOMM)Wtsi HOM Early adult 5.10×10-20
increased large unstained cell number Col4a3tm1b(EUCOMM)Wtsi HOM   Early adult 9.12×10-05

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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
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 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Echo

M-Mode Images

32 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

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
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Deafness-Oligodontia Syndrome
Sensorineural hearing impairment, Abnormality of the inner ear, Vertigo ORPHA:3230
Deafness, Autosomal Dominant 11
Vestibular dysfunction, Vertigo, Bilateral sensorineural hearing impairment OMIM:601317
Deafness, Autosomal Recessive 2
Sensorineural hearing impairment, Vestibular dysfunction, Vertigo OMIM:600060
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... OMIM:619201
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Deafness, Autosomal Recessive 48
Vestibular dysfunction, Profound sensorineural hearing impairment OMIM:609439
Deafness, Autosomal Recessive 94
Vestibular dysfunction, Bilateral sensorineural hearing impairment OMIM:618434
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... OMIM:618177
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Vestibular dysfunction OMIM:618094
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Vestibular dysfunction OMIM:220290
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Vestibular dysfunction OMIM:619500
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension, Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Elevated c... ORPHA:567544
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Tubulointerstitial fibrosis, Hypoalbumine... OMIM:614196
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Focal Segmental Glomerulosclerosis 2
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney dise... OMIM:603965
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... OMIM:614131
Deafness, Autosomal Recessive 30
Progressive hearing impairment, Progressive sensorineural hearing impairment OMIM:607101
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
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
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:618176
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 9
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... OMIM:615573
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits ORPHA:69063
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbumi... OMIM:617609
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hyperlipidemia, Nephrotic syndrome, Stage 5 chronic kidney di... OMIM:600995
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Thin glomerular basement membrane, Sensorineural hearing impairment, Hypoalbu... OMIM:615244
Deafness, Autosomal Dominant 20
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Dominant 6
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:600965
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
Deafness, Autosomal Dominant 22
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... OMIM:610725
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... OMIM:615861
Usher Syndrome, Type Ic
Congenital sensorineural hearing impairment, Vestibular hypofunction OMIM:276904
Focal Segmental Glomerulosclerosis 5
Hypertension, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hem... OMIM:613237
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension, Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Sensorineural hearing impairment, Diffuse... OMIM:614650
Renal Failure, Progressive, With Hypertension
Hypertension, Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney di... OMIM:161900
Lipoprotein Glomerulopathy
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... 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 24
Profound sensorineural hearing impairment OMIM:611022
Deafness, Autosomal Recessive 83
Prelingual sensorineural hearing impairment OMIM:613685
Deafness, Autosomal Recessive 46
Profound sensorineural hearing impairment OMIM:609647
Deafness, Autosomal Dominant 70
Progressive sensorineural hearing impairment OMIM:616968
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment OMIM:616515
Deafness, Autosomal Recessive 28
Severe sensorineural hearing impairment OMIM:609823
Deafness, Autosomal Recessive 12
Prelingual sensorineural hearing impairment OMIM:601386
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
Focal Segmental Glomerulosclerosis 1
Hypertension, Focal segmental glomerulosclerosis, Hyperlipidemia, Stage 5 chronic kidney disease,... OMIM:603278
Deafness, Autosomal Recessive 77
Bilateral sensorineural hearing impairment OMIM:613079
Deafness, Autosomal Recessive 63
Congenital sensorineural hearing impairment OMIM:611451
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Deafness, Autosomal Recessive 101
Bilateral sensorineural hearing impairment OMIM:615837
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy OMIM:182690
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 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 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 59
Sensorineural hearing impairment OMIM:612642
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 35
Sensorineural hearing impairment OMIM:608565
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, Autosomal Dominant 77
Sensorineural hearing impairment OMIM:618915
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment OMIM:617605
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, 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, 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 Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Mental Retardation, 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
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Diffuse mesangial scleros... OMIM:256370
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... OMIM:614817
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndro... OMIM:618594
Usher Syndrome, Type Iia
Congenital sensorineural hearing impairment OMIM:276901
Usher Syndrome, Type Iic
Congenital sensorineural hearing impairment OMIM:605472
Usher Syndrome, Type If
Congenital sensorineural hearing impairment OMIM:602083
C3 Glomerulopathy 3
Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis OMIM:614809
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:567548
Deafness, Autosomal Recessive 37
Sensorineural hearing impairment, Vestibular dysfunction, Bilateral sensorineural hearing impairment OMIM:607821
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Congenital nep... OMIM:256300
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Renal insufficiency, Optic atrophy, Nephrotic syndrome OMIM:249660
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Hematuria, Stage 5 chronic kidney disease, Steroid-resistant ... OMIM:616892
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... OMIM:618349
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:656
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613779
Nephrotic Syndrome, Type 22
Hypoproteinemia, Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stag... OMIM:619155
Deafness, Autosomal Recessive 119
Sensorineural hearing impairment OMIM:619615
Intellectual Developmental Disorder, Autosomal Recessive 67
Sensorineural hearing impairment OMIM:618295
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... OMIM:616730
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Hypertension, Tubulointerstitial nephritis, Renal cortic... OMIM:174000
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot process effacement,... OMIM:617006
Deafness, X-Linked 6
Cochlear malformation, Hearing impairment OMIM:300914
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Abnormal circulating lipid concentration, Hematuria, Membranoproliferative gl... OMIM:608709
C3 Glomerulopathy
Hypertension, Nephrotic syndrome, Hematuria, Elevated circulating creatinine concentration, Stage... ORPHA:329918
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:212850
Glomerulopathy With Fibronectin Deposits 1
Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinu... OMIM:137950
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Reversible renal failure, Anterior uveitis, Panuve... OMIM:607665
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Hyperprolinemia Type 1
Prolinuria, Hyperprolinemia, Proteinuria, Nephropathy ORPHA:419
Intellectual Developmental Disorder, Autosomal Recessive 50
Sensorineural hearing impairment OMIM:616460
Fibromatosis, Gingival, With Progressive Deafness
Progressive sensorineural hearing impairment OMIM:135550
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Steppage gait, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Macrotia, Diffuse mesan... OMIM:617730
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Sensorine... OMIM:617575
Immunodeficiency 40
Lymphopenia OMIM:616433
Primary Membranoproliferative Glomerulonephritis
Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Myocardial... ORPHA:54370
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephrotic syndrome, Gait ataxia, Nephropathy, Glomerulopathy,... OMIM:254900
Deafness-Oligodontia Syndrome
Congenital sensorineural hearing impairment OMIM:221740
Ataxia-Deafness-Retardation Syndrome
Progressive sensorineural hearing impairment OMIM:208850
Arthrogryposis, Distal, Type 6
Sensorineural hearing impairment OMIM:108200
Nephronophthisis-Like Nephropathy 2
Bronchiectasis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Po... OMIM:619468
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Progressive hearing impairment, Low-frequency hearing loss, Sensorineural hearing impairment OMIM:124900
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne... OMIM:613496
Galloway-Mowat Syndrome 5
Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Hearing impairment, Ata... OMIM:617731
Branchiootorenal Syndrome 2
Renal dysplasia, Renal insufficiency, Hearing impairment OMIM:610896
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Galloway-Mowat Syndrome 7
Renal tubular atrophy, Focal segmental glomerulosclerosis, Eczema, Minimal change glomerulonephri... OMIM:618348
Fanconi Renotubular Syndrome 5
Hypertension, Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney disease, Glyc... OMIM:618913
Iga Nephropathy, Susceptibility To, 2
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... OMIM:613944
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Usher Syndrome, Type I
Sensorineural hearing impairment, Absent vestibular function OMIM:276900
Hypercalcemia, Infantile, 2
Hypercalcemia, Nephrocalcinosis, Failure to thrive, Hypophosphatemia, Renal phosphate wasting, Me... OMIM:616963
Nail-Patella-Like Renal Disease
Hypertension, Microscopic hematuria, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2613
Iga Nephropathy, Susceptibility To, 3
Hypertension, IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesang... OMIM:616818
Split-Foot Malformation With Mesoaxial Polydactyly
Sensorineural hearing impairment OMIM:616890
Hyperuricemic Nephropathy, Familial Juvenile, 3
Renal insufficiency, Nephropathy OMIM:614227
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Nephrotic syndrome, Dysmetria, Glomerular sclerosis, Stage 5 c... OMIM:301006
Immunodeficiency 8
Lymphopenia OMIM:615401
Ectodermal Dysplasia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:224800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Renal cyst, Gout, Hyperuricemia, Nephropathy, Chronic kidney ... OMIM:617056
Glomerulopathy With Fibronectin Deposits 2
Hypertension, Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscop... OMIM:601894
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Infantile hypercalcemia, Hyper... OMIM:143880
C1Q Deficiency
Membranoproliferative glomerulonephritis OMIM:613652
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, ... ORPHA:84090
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Abnormal bleeding, Hematuria, Glomerulonephritis OMIM:314000
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Mitochondrial Complex I Deficiency, Nuclear Type 29
Failure to thrive, Stage 5 chronic kidney disease, Hyperalaninemia OMIM:618250
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Hypertension, Nephrotic syndrome, Nephrocalcinosis, Azo... OMIM:104200
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy OMIM:602114
Hereditary Renal Hypouricemia
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... ORPHA:94088
Spastic Paraplegia-Nephritis-Deafness Syndrome
Sensorineural hearing impairment, Gait disturbance, Proteinuria, Nephropathy ORPHA:2820
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Nephronophthisis 1
Renal tubular atrophy, Hypertension, Nephronophthisis, Tubulointerstitial fibrosis, Renal cortico... OMIM:256100
Iga Nephropathy, Susceptibility To, 1
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... OMIM:161950
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:136680
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Hyperammonemia, Coma, Renal insufficiency, Lethargy ORPHA:28
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology, Hyperuricemia OMIM:609886
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Alport Syndrome
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... ORPHA:63
Bardet-Biedl Syndrome 10
Renal insufficiency, Obesity, Renal cyst, Abnormality of the kidney OMIM:615987
Complement Component 4A Deficiency
Glomerulonephritis, Vasculitis, Purpura OMIM:614380
Complement Factor H Deficiency
Chronic kidney disease, Hematuria, Thickened glomerular basement membrane, Glomerular subendothel... OMIM:609814
Cystinuria
Ornithinuria, Nephrolithiasis, Cystinuria, Recurrent urinary tract infections, Argininuria, Hyper... OMIM:220100
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Hyperammonemia, Coma, Hyperlysinuria, Hyperlysinemia, Lethargy OMIM:238750
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hypertrophic cardiomyopathy, Hypertension, Sinus bradycard... ORPHA:439232
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Gout, Hyperuricemia, Nephropathy, Renal insufficiency OMIM:162000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... OMIM:612926
Galactosemia I
Hypergalactosemia, Aminoaciduria, Increased level of galactitol in urine, Failure to thrive, Incr... OMIM:230400
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Macroscopic hematuria, Dystonia, Elevated circulating creatinine concentration, Dysuria, Gout, Hy... ORPHA:79233
Autosomal Dominant Polycystic Kidney Disease
Hypertension, Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephro... ORPHA:730
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Elevat... ORPHA:93126
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Hypertension, Decreased HDL cholesterol concentration, Tubulointerstitial ... ORPHA:85450
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Pneumonia OMIM:247800
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, Recurrent otitis media, Renal cyst, Hearing impairment, Obesity,... OMIM:615993
Worster-Drought Syndrome
Sensorineural hearing impairment, Abnormal cranial nerve morphology ORPHA:3465
Camos Syndrome
Ataxia, Optic atrophy, Renal insufficiency, Nephrotic syndrome ORPHA:83472
Membranoproliferative Glomerulonephritis, X-Linked
Cardiac shunt, Membranoproliferative glomerulonephritis OMIM:305800
Retinitis Pigmentosa 59
Sensorineural hearing impairment, Micropenis, Renal insufficiency, Failure to thrive OMIM:613861
Non-Syndromic Genetic Deafness
Conductive hearing impairment, Moderate hearing impairment, High-frequency hearing impairment, Ch... ORPHA:87884
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Nephrotic Syndrome, Type 16
Hematuria, Proteinuria, Nephrotic syndrome OMIM:617783
Preeclampsia
Small for gestational age, Elevated circulating creatinine concentration, Increased body mass ind... ORPHA:275555
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials ORPHA:101007
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Pulmonary hemorrhage, Mesangial hypercellularity, Crescentic glomerulonephritis, Eleva... OMIM:616414
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Increased urinary potassium, Failure to thrive, Decreased glomerular f... OMIM:602522
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:606966
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentra... OMIM:614376
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment OMIM:208750
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Corneal erosion, Nephrotic syndrome, Hematuria, Nephrit... OMIM:203780
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Failure to thrive, Chronic kidney disease, Hyperuricemia, Hypomagnesemia, Proteinur... OMIM:613845
Coenzyme Q10 Deficiency, Primary, 1
Nephrotic syndrome, Elevated circulating creatine kinase concentration, Glomerular sclerosis, Sen... OMIM:607426
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:604387
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Nephrotic syndrome, EEG with occipital epileptiform discharges, Glomerular sclerosis... OMIM:619428
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Hearing impairment OMIM:600501
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Optic atrophy, Dystonia, Failure to thrive, Elevated circulating acylcarni... ORPHA:26792
Immunodeficiency 50
Recurrent urinary tract infections, Neutropenia, Lymphopenia OMIM:300988
Nephronophthisis 20
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Failure to thrive, Hyperactivity, Uraciluria, Lethargy OMIM:274270
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... OMIM:601369
Deafness, Autosomal Dominant 50
Progressive hearing impairment, Tinnitus, Sensorineural hearing impairment, Progressive sensorine... OMIM:613074
Hypomagnesemia 3, Renal
Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hematuria, Renal calcium wasting, Ne... OMIM:248250
Hematuria, Benign Familial
Thin glomerular basement membrane, Hematuria OMIM:141200
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Nathalie Syndrome
Sensorineural hearing impairment ORPHA:2663
Thrombotic Thrombocytopenic Purpura
Confusion, Hematuria, Decreased serum creatinine, Coma, Acute kidney injury, Proteinuria, Renal i... ORPHA:54057
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Macroscopic hematuria, Hypertension, Focal segmental glomerulosclerosis, Minimal change glomerulo... ORPHA:567546
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Galloway-Mowat Syndrome 9
Focal segmental glomerulosclerosis, Macrotia, Stage 5 chronic kidney disease, Low-set ears, Diffu... OMIM:619603
Frasier Syndrome
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal insufficiency, Glomer... ORPHA:347
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Small for gestati... ORPHA:2260
Glycine Encephalopathy
Hyperactivity, Hyperglycinuria, Hyperglycinemia, Lethargy OMIM:605899
Deafness, X-Linked 2
Conductive hearing impairment, Dilatated internal auditory canal, Congenital sensorineural hearin... OMIM:304400
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Bardet-Biedl Syndrome 18
Obesity, Renal insufficiency OMIM:615995
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor... OMIM:611555
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Hematuria, Iris coloboma, Sensorineural hearing impairment, Corneal opacit... ORPHA:1473
Congenital Primary Megaureter
Hydronephrosis, Abnormal penis morphology, Congenital megaureter, Nephrolithiasis, Recurrent urin... ORPHA:617
Cryoglobulinemia, Familial Mixed
Hypertension, Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration... OMIM:123550
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Urofacial Syndrome 2
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... OMIM:615112
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Nephropathy OMIM:242530
Immunodeficiency 19
Lymphopenia OMIM:615617
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Renal dysplasia, Elevated circulating creatinine concentration, Hearin... OMIM:616733
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria, Hearing impairment ORPHA:79087
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Proteinuria ORPHA:2134
Maternally-Inherited Diabetes And Deafness
Abnormal circulating lipid concentration, Sensorineural hearing impairment, Ataxia, Glomerulopath... ORPHA:225
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear aplasia OMIM:619553
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis, Hyperuricosuria, Renal insufficiency, Hyperuricemia, Acute kidney injury, Uric acid ne... ORPHA:411536
Combined Oxidative Phosphorylation Deficiency 52
Hyperamylasemia, Lacticaciduria, Elevated circulating creatine kinase concentration, Pancreatitis... OMIM:619386
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Nephronophthisis 2
Pulmonary insufficiency, Hypertension, Hyperkalemia, Chronic tubulointerstitial nephritis, Nephro... OMIM:602088
Fechtner syndrome
Developmental cataract, Hematuria, Nephritis, Stage 5 chronic kidney disease, High-frequency sens... OMIM:153640
Galloway-Mowat Syndrome 3
Nephrotic syndrome, Failure to thrive, Glomerular sclerosis, Stage 5 chronic kidney disease, Hypo... OMIM:617729
Palmoplantar Keratoderma-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2202
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Dystonia, Renal tubular dysfunction, Pancreatitis, Hyperammonemia, Coma, Renal ins... ORPHA:289916
Congenital Nephrotic Syndrome, Finnish Type
Elevated amniotic fluid alpha-fetoprotein, Proteinuria, Abnormal renal tubule morphology, Nephrot... ORPHA:839
Pierson Syndrome
Hypoproteinemia, Posterior lenticonus, Microcoria, Nephrotic syndrome, Hypoplasia of the iris, Ri... OMIM:609049
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Hypomagnesemia, Hyperactivity, Renal potassium wasting, Polyuria, Renal magnesium wa... OMIM:618314
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Hypertension, Pelvic kidney, Glomerulo... ORPHA:93101
Hydroxyprolinemia
Microscopic hematuria, Hydroxyprolinemia OMIM:237000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Dystonia, Failure to thrive, Pancreatitis, Hyperammonemia, Coma, Renal insufficien... ORPHA:79312
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, ... OMIM:251000
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Actinic Prurigo
Cheilitis, Glomerulonephritis, Pyoderma OMIM:174770
Cryofibrinogenemia, Familial Primary
Transient nephrotic syndrome, Hematuria OMIM:123540
Dent Disease 2
Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Hypop... OMIM:300555
Type 1 Diabetes Mellitus
Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria OMIM:189800
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency, Lethargy ORPHA:254857
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Ethylmalonic aciduria, Facial palsy, Failure to thrive, Lethargy OMIM:201470
Neutropenia-Monocytopenia-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2690
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Aganglionic megacolon, Hyperuricemia, Vesicoureteral reflux, Chronic kidney disea... ORPHA:261222
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypercalcemia, Increased blood urea nitrogen, Membranoproliferative glomer... ORPHA:251004
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Proteinuria, Renal insufficiency, Hypertriglyceridemia OMIM:245900
Denys-Drash Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropat... OMIM:194080
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Chronic kidney disease, Elevated circulating C-reactive protein con... ORPHA:449395
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Hyperhomocystinemia, Gait disturbance, Hypomethioninemia, Failure to thrive, Homocystinuria, Leth... OMIM:236270
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Hypertension, Urinary hesitancy, Urinary retention, Atrial fibrillation, D... ORPHA:976
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Gait imbalance, Elevated circulating creatine kinase concentration, Hyperammonemia, 3-Methylgluta... OMIM:618120
Glycogen Storage Disease Xi
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... OMIM:612933
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Sporadic Pheochromocytoma/Secreting Paraganglioma
Conductive hearing impairment, Hypercalcemia, Elevated urinary epinephrine, Pulsatile tinnitus, H... ORPHA:276621
Glutaric Acidemia Type 3
Ketonuria, Failure to thrive, Glutaric aciduria, Elevated circulating glutaric acid concentration... ORPHA:35706
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Myoglobinuria, Autosomal Dominant
Elevated circulating creatine kinase concentration, Acute kidney injury, Myoglobinuria OMIM:160010
Cirrhosis, Familial
Lethargy, Increased level of L-fucose in urine, Increased level of propylene glycol in blood OMIM:215600
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Hypercalcemia, Proteinuria, Renal insufficiency ORPHA:2668
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Hematuria, Cataract OMIM:120433
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, Failure to thrive, Hemolytic-uremic syndrome, Recurrent pneumonia, Maculopapu... OMIM:619644
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... OMIM:220150
Galloway-Mowat Syndrome 1
Optic atrophy, Focal segmental glomerulosclerosis, Dystonia, Nephrotic syndrome, Small for gestat... OMIM:251300
Deafness And Myopia
Profound hearing impairment, Conductive hearing impairment, Hematuria, Proteinuria OMIM:221200
Opticocochleodentate Degeneration
Cochlear degeneration, Optic atrophy, Hearing impairment OMIM:258700
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hydronephrosis, Polyuria, Hypokalemia OMIM:304900
Nephronophthisis
Renal insufficiency ORPHA:655
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Increased urinary potassium, Failure to thrive, Decreased glomerular f... OMIM:613090
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hypertension, Tubulointerstitial fibrosis, Renal cyst, Polycystic kidney dysplasia, Absence of re... OMIM:263200
Leiomyomatosis, Diffuse, With Alport Syndrome
Glomerular basement membrane lamellation, Abnormal renal physiology, Hematuria, Stage 5 chronic k... OMIM:308940
Igg4-Related Retroperitoneal Fibrosis
Psoriasiform dermatitis, Hydronephrosis, Deep dermal perivascular inflammatory infiltrate, Nephro... ORPHA:49041
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Skin rash, Nephropathy, Proteinuria OMIM:105200
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Glycogen Storage Disease X
Elevated circulating creatine kinase concentration, Myoglobinuria, Renal insufficiency OMIM:261670
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Pyruvate Dehydrogenase E3 Deficiency
Hyperisoleucinemia, Failure to thrive, Increased urine alpha-ketoglutarate concentration, Hyperam... ORPHA:2394
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Tubulointerstitial nephritis, Elevated circulating long chain fatty acid concentra... ORPHA:228302
Hereditary Xanthinuria
Hypouricemia, Hydronephrosis, Decreased urinary urate, Hyperxanthinemia, Increased urinary hypoxa... ORPHA:3467
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypertension, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Recu... OMIM:613095
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Cednik Syndrome
Optic atrophy, Nephrotic syndrome, Macrotia, Sensorineural hearing impairment, Ataxia, Abnormalit... ORPHA:66631
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Distal renal tubular acidosis, Nephrocalcinosis, Failure to thrive, Isothenuria, Let... OMIM:611590
Conductive Deafness-Malformed External Ear Syndrome
Conductive hearing impairment, Overfolded helix, Abnormality of the pinna, Sensorineural hearing ... ORPHA:3216
Autoimmune Lymphoproliferative Syndrome, Type Iii
Nephrotic syndrome, Membranous nephropathy, Recurrent otitis media, Stage 5 chronic kidney diseas... OMIM:615559
Multiple Carboxylase Deficiency
Optic atrophy, Hyperammonemia, Hearing impairment, Ataxia, Coma, Skin rash, Organic aciduria, Let... ORPHA:148
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Nephrolithiasis OMIM:614723
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Hemolytic-uremic syndro... OMIM:274150
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Hyperlipidemia, Decreased glomerular filtration rate, Gout, N... OMIM:232200
Aicardi-Goutieres Syndrome 9
Optic atrophy, Dystonia, Pericarditis, Failure to thrive, Weight loss, Glomerular sclerosis, Stag... OMIM:619487
Immunodeficiency 24
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... OMIM:615897
Angioma, Hereditary Neurocutaneous
Hematuria OMIM:106070
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Gout, Hyperuricemia ORPHA:510
Indomethacin Embryofetopathy
Cardiomyopathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Nephropathy, Rena... ORPHA:1909
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria OMIM:233100
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment OMIM:238340
Glycerol Kinase Deficiency
Small for gestational age, Coma, Increased urinary glycerol, Loss of consciousness, Hypertriglyce... OMIM:307030
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Nephrotic syndrome, Failure to thrive, Membranous nephropathy, Colonic eosinop... OMIM:618999
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Gout, Arthritis, Hyperuricosuria, Sensorineural hearing impairment, Hyperuricemia, Acute kidney i... ORPHA:411543
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Malaria
Gait imbalance, Hyperbilirubinemia, Acute kidney injury, Reduced consciousness/confusion, Elevate... ORPHA:673
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Pancreatitis, Hyperammonemia, Ataxia, Coma, Renal insufficiency, Lethargy ORPHA:27
Central Diabetes Insipidus