Gene Summary

Name:
kallikrein related-peptidase 14
Synonyms:
N/A

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
increased urine microalbumin level Klk14tm1.1(KOMP)Vlcg HOM Early adult 9.75×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 0.0% (0 of 6)
Aorta  Section images heterozygote 0.0% (0 of 6)
Bone  Section images heterozygote 0.0% (0 of 6)
Brain  Section images heterozygote 0.0% (0 of 6)
Brainstem  Section images heterozygote 0.0% (0 of 6)
Brown adipose tissue  Section images heterozygote 0.0% (0 of 6)
Cartilage tissue  Section images heterozygote 0.0% (0 of 6)
Cecum  Section images heterozygote 25% (1 of 4)
Cerebellum  Section images heterozygote 0.0% (0 of 6)
Cerebral cortex  Section images heterozygote 0.0% (0 of 6)
Chest bone  Section images heterozygote 0.0% (0 of 4)
Colon  Section images heterozygote 0.0% (0 of 4)
Cranium  Section images heterozygote 0.0% (0 of 4)
Diaphragm  Section images heterozygote 0.0% (0 of 4)
Duodenum  Section images heterozygote 0.0% (0 of 4)
Esophagus  Section images heterozygote 66.67% (4 of 6)
Eye  Section images heterozygote 0.0% (0 of 6)
Gall bladder  Section images heterozygote 0.0% (0 of 4)
Harderian gland  Section images heterozygote 0.0% (0 of 4)
Heart  Section images heterozygote 0.0% (0 of 6)
Hindlimb  Section images heterozygote 50% (2 of 4)
Hippocampus  Section images heterozygote 0.0% (0 of 6)
Hypothalamus  Section images heterozygote 0.0% (0 of 6)
Ileum  Section images heterozygote 0.0% (0 of 4)
Jejunum  Section images heterozygote 0.0% (0 of 4)
Kidney  Section images heterozygote 0.0% (0 of 6)
Large intestine  Section images heterozygote 0.0% (0 of 6)
Liver  Section images heterozygote 0.0% (0 of 6)
Lower urinary tract  Section images heterozygote 0.0% (0 of 6)
Lung  Section images heterozygote 33.33% (2 of 6)
Lymph node  Section images heterozygote 0.0% (0 of 6)
Mammary gland  Section images heterozygote 0.0% (0 of 6)
Olfactory lobe  Section images heterozygote 0.0% (0 of 6)
Oral epithelium  Section images heterozygote 50% (2 of 4)
Ovary  Section images heterozygote 0.0% (0 of 6)
Oviduct  Section images heterozygote 0.0% (0 of 6)
Pancreas  Section images heterozygote 0.0% (0 of 6)
Parathyroid gland  Section images heterozygote 0.0% (0 of 4)
Penis  Section images heterozygote 25% (1 of 4)
Peripheral nervous system  Section images heterozygote 0.0% (0 of 6)
Peyer's patch  Section images heterozygote 0.0% (0 of 6)
Pituitary gland  Section images heterozygote 0.0% (0 of 6)
Prostate gland  Section images heterozygote 16.67% (1 of 6)
Quadriceps  Section images heterozygote 0.0% (0 of 6)
Skeletal muscle  Section images heterozygote 0.0% (0 of 6)
Skin  Section images heterozygote 66.67% (4 of 6)
Small intestine  Section images heterozygote 0.0% (0 of 6)
Spinal cord  Section images heterozygote 0.0% (0 of 6)
Spleen  Section images heterozygote 0.0% (0 of 6)
Stomach  Section images heterozygote 66.67% (4 of 6)
Striatum  Section images heterozygote 0.0% (0 of 6)
Submandibular gland  Section images heterozygote 0.0% (0 of 6)
Testis  Section images heterozygote 16.67% (1 of 6)
Thymus  Section images heterozygote 50% (3 of 6)
Thyroid gland  Section images heterozygote 0.0% (0 of 6)
Tongue  Section images heterozygote 100% (4 of 4)
Trachea  Section images heterozygote 0.0% (0 of 6)
Urinary bladder  Section images heterozygote 0.0% (0 of 6)
Uterus  Section images heterozygote 0.0% (0 of 6)
Vagina  Section images heterozygote 25% (1 of 4)
Vascular system  Section images heterozygote 0.0% (0 of 6)
White adipose tissue  Section images heterozygote 0.0% (0 of 6)
Blood N/A heterozygote Not available
Bone marrow N/A heterozygote 0.0% (0 of 6)
Epididymis N/A heterozygote 0.0% (0 of 6)
Gonadal fat pad N/A heterozygote Not available
Main olfactory bulb N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote Not available
Midbrain N/A heterozygote 0.0% (0 of 6)
Parotid gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Sublingual gland N/A heterozygote Not available
Thalamus N/A heterozygote 0.0% (0 of 6)
Trigeminal V nerve N/A heterozygote Not available
Vas deferens N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (4 of 4)
Embryo N/A homozygote Ambiguous
Heart atrium N/A heterozygote Not available
N/A Ambiguous
Axial skeleton N/A heterozygote Ambiguous
N/A Ambiguous
Brain N/A heterozygote 0.0% (0 of 4)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote Ambiguous
N/A Ambiguous
Cranium N/A heterozygote Ambiguous
N/A Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 4)
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 4)
Ear N/A homozygote Ambiguous
Outer ear N/A heterozygote Ambiguous
N/A Ambiguous
Eye N/A heterozygote 0.0% (0 of 4)
Eye N/A homozygote Ambiguous
Femur pre-cartilage condensation N/A heterozygote Not available
N/A Ambiguous
Footplate N/A heterozygote 0.0% (0 of 4)
Footplate N/A homozygote Ambiguous
Forearm N/A heterozygote Ambiguous
N/A Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 4)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 4)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote 0.0% (0 of 4)
Fronto-nasal process N/A homozygote Ambiguous
Gut N/A heterozygote 50% (2 of 4)
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 4)
Handplate N/A homozygote Ambiguous
Head mesenchyme N/A heterozygote Not available
N/A Ambiguous
Head N/A heterozygote 0.0% (0 of 4)
Head N/A homozygote Ambiguous
Heart ventricle N/A heterozygote Not available
N/A Ambiguous
Heart N/A heterozygote 50% (2 of 4)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 4)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 4)
Hindlimb N/A homozygote Ambiguous
Humerus pre-cartilage condensation N/A heterozygote Ambiguous
N/A Ambiguous
Inner ear N/A heterozygote Ambiguous
N/A Ambiguous
Intestine N/A heterozygote Not available
N/A Ambiguous
Liver N/A heterozygote 0.0% (0 of 4)
Liver N/A homozygote Ambiguous
Lower leg N/A heterozygote Ambiguous
N/A Ambiguous
Lung N/A heterozygote 0.0% (0 of 4)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 4)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 4)
Maxillary process N/A homozygote Ambiguous
Meckel's cartilage N/A heterozygote Not available
N/A Ambiguous
Mesonephros of female N/A heterozygote Not available
N/A Ambiguous
Mesonephros of male N/A heterozygote Not available
N/A Ambiguous
Metanephros N/A heterozygote Not available
N/A Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 4)
Midbrain N/A homozygote Ambiguous
Nasal septum N/A heterozygote Not available
N/A Ambiguous
Nose N/A heterozygote 0.0% (0 of 4)
Nose N/A homozygote Ambiguous
Notochord N/A heterozygote Not available
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 4)
Oral cavity N/A homozygote Ambiguous
Outflow tract N/A heterozygote Not available
N/A Ambiguous
Pancreas N/A heterozygote Not available
N/A Ambiguous
N/A heterozygote Not available
N/A Ambiguous
Pharynx N/A heterozygote Not available
N/A Ambiguous
Radius-ulna pre-cartilage condensation N/A heterozygote Ambiguous
N/A Ambiguous
Rib pre-cartilage condensation N/A heterozygote Not available
N/A Ambiguous
Skeleton N/A heterozygote Ambiguous
N/A Ambiguous
Skin N/A heterozygote 0.0% (0 of 4)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 4)
Spinal cord N/A homozygote Ambiguous
Stomach N/A heterozygote Not available
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 4)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 4)
Tail N/A homozygote Ambiguous
Thoracic vertebral cartilage condensation N/A heterozygote Not available
N/A Ambiguous
Tongue N/A heterozygote Not available
N/A Ambiguous
Trachea N/A heterozygote Not available
N/A Ambiguous
Trunk mesenchyme N/A heterozygote Not available
N/A Ambiguous
Umbilical artery embryonic part N/A heterozygote Not available
N/A Ambiguous
Umbilical vein embryonic part N/A heterozygote Not available
N/A Ambiguous
Upper arm N/A heterozygote Ambiguous
N/A Ambiguous
Upper leg N/A heterozygote Ambiguous
N/A Ambiguous
Urinary system N/A heterozygote Not available
N/A Ambiguous
Vibrissa N/A heterozygote Ambiguous
N/A Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
cranium
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
atrium 1.67% (1 of 60)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 510)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 510)
femur pre-cartilage condensation 1.82% (1 of 55)
footplate 0.2% (1 of 510)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 510)
heart ventricle 1.67% (1 of 60)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
intestine 1.72% (1 of 58)
liver 0.2% (1 of 505)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
meckel's cartilage 0.0%
mesonephros of female 1.82% (1 of 55)
mesonephros of male 1.82% (1 of 55)
metanephros 1.82% (1 of 55)
midbrain 0.2% (1 of 510)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 505)
outflow tract 1.67% (1 of 60)
pancreas 1.82% (1 of 55)
pericardium 1.82% (1 of 55)
pharynx 1.79% (1 of 56)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
rib pre-cartilage condensation 1.75% (1 of 57)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
stomach 1.82% (1 of 55)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
thoracic vertebral cartilage condensation 1.82% (1 of 55)
tongue 1.82% (1 of 55)
trachea 1.69% (1 of 59)
trunk mesenchyme 1.67% (1 of 60)
umbilical artery embryonic part 1.67% (1 of 60)
umbilical vein embryonic part 1.67% (1 of 60)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
urinary system 1.69% (1 of 59)
vibrissa 1.35% (1 of 74)

Associated Images

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

Adult LacZ

LacZ Images Section

131 Images

X-ray

XRay Images Whole Body Dorso Ventral

29 Images

Eye Morphology

Images Ophthalmoscopy

16 Images

X-ray

XRay Images Skull Lateral Orientation

19 Images

X-ray

XRay Images Whole Body Lateral Orientation

29 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

19 Images

Sleep Wake

Wake state (bmp file)

12 Images

Electrocardiogram (ECG)

Waveform Image

30 Images

X-ray

XRay Images Forepaw

18 Images

Embryo LacZ

LacZ images wholemount

20 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

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

16 Images

Electroretinography 2

Rod and cone PDF

7 Images

Human diseases caused by Klk14 mutations

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

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

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

The table below shows human diseases predicted to be associated to Klk14 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Proteinuria, Chronic Benign
Renal insufficiency, Albuminuria, Proteinuria OMIM:618884
Uridine-Cytidineuria
Elevated urinary cytidine OMIM:618477
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Lipoprotein Glomerulopathy
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Micro... OMIM:601894
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... OMIM:618176
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Iga Nephropathy, Susceptibility To, 3
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... OMIM:616818
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... OMIM:603965
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis OMIM:617609
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:613944
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Renal Failure, Progressive, With Hypertension
Nephritis, Renal insufficiency, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease OMIM:161900
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... OMIM:615008
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:615573
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... OMIM:308990
Iminoglycinuria
Hydroxyprolinuria, Prolinuria, Hyperglycinuria OMIM:242600
Iminoglycinuria
Hydroxyprolinuria, Prolinuria, Hyperglycinuria ORPHA:42062
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Cystathioninuria
Cystathioninuria OMIM:219500
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:161950
Phenylketonuria
Aminoaciduria ORPHA:716
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... OMIM:310468
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Pr... ORPHA:54370
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis OMIM:614650
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria ORPHA:839
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:610725
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis OMIM:614196
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, G... ORPHA:84090
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephritis, Proteinuria, Stage 5 chron... OMIM:614817
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Galactosemia I
Increased level of galactitol in urine, Albuminuria, Galactosuria, Aminoaciduria OMIM:230400
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617006
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Nephroblastoma, Proteinuria ORPHA:220
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Ketonuria, Abnormality of the upper urinary tract, Glycosuria, Moderat... ORPHA:99885
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:613913
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Proteinuria ORPHA:2134
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... OMIM:611555
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Nephrotic range proteinuria, Thickened glomerular basement membrane, Podocyte... OMIM:619155
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:603278
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria OMIM:619269
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Renal ins... ORPHA:567544
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... ORPHA:976
Amyloidosis, Familial Visceral
Nephrotic syndrome, Nephropathy, Hematuria, Proteinuria OMIM:105200
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:608709
Nephrotic Syndrome, Type 8
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Thin glomer... OMIM:615244
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... OMIM:254900
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Protein... OMIM:618349
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... OMIM:614377
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Hematuria, Proteinuria, Abnormal renal physiology OMIM:123550
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Glycosuria, Aminoaciduria, Low-molecular-weight proteinuria OMIM:615605
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Dent Disease 2
Chronic kidney disease, Aminoaciduria, Low-molecular-weight proteinuria, Hypercalciuria, Proximal... OMIM:300555
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Proteinuria, Renal insufficiency, Lacticaci... OMIM:134600
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... OMIM:613496
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Hereditary Renal Hypouricemia
Chronic kidney disease, Decreased glomerular filtration rate, Abnormal renal physiology, Abnormal... ORPHA:94088
Congenital Disorder Of Glycosylation, Type Iiw
Membranoproliferative glomerulonephritis, Microscopic hematuria, Moderate albuminuria OMIM:619525
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... ORPHA:329918
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... ORPHA:93101
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Proteinuria, Re... OMIM:203780
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Macroscopic hematuria, Focal segmental glomerulosclerosis, Microscopic he... ORPHA:567546
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Dysuria, Abnormal penis morphology, Hematuria, Moderate albuminuria, Acute kidney injury, Renal t... ORPHA:95455
Fechtner syndrome
Proteinuria, Nephritis, Hematuria, Stage 5 chronic kidney disease OMIM:153640
Al Amyloidosis
Nephrotic syndrome, Renal interstitial amyloid deposits, Abnormality of the kidney, Proteinuria, ... ORPHA:85443
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, Stage 5 chronic kidney disease OMIM:618913
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinu... ORPHA:656
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Proteinuria, Anuria, Stage 5 chronic kidney disease, Hemolytic-ur... OMIM:612925
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome OMIM:612926
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Lcat Deficiency
Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Acute kidney injury, Stag... ORPHA:650
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome OMIM:612922
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Nephrotic syndrome, Proteinuria OMIM:215250
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Acute kidney injury, Hematuria, Proteinuria ORPHA:54057
Galloway-Mowat Syndrome 5
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis OMIM:617731
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:225
Igg4-Related Kidney Disease
Chronic kidney disease, Abnormal ureter morphology, Nephrotic range proteinuria, Urethritis, Uret... ORPHA:449395
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria OMIM:620010
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:375
Cednik Syndrome
Nephrotic syndrome, Proteinuria ORPHA:66631
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Hypospadias, Hydronephrosis, Renal cortical microcysts, Albuminuria OMIM:214100
Systemic Sclerosis
Chronic kidney disease, Abnormality of the kidney, Renal insufficiency, Proteinuria, Acute kidney... ORPHA:90291
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch... OMIM:301006
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... ORPHA:1652
Preeclampsia
Abnormality of the kidney, Chronic kidney disease, Acute kidney injury, Proteinuria ORPHA:275555
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Abnormality of the kidney, Nephropathy, Enlarged kidn... ORPHA:85445
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Dent Disease 1
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Glycosuria, Low-... OMIM:300009
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury OMIM:268200
Alport Syndrome 3, Autosomal Dominant
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... OMIM:104200
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal glomerular visceral epithelial cell ... ORPHA:567548
Alagille Syndrome 2
Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insufficiency, Proteinuria OMIM:610205
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:616730
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Glo... OMIM:617730
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:1192
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Red-brown urine, Tubulointerstitial nephritis, Renal insufficiency, Renal tubular ... ORPHA:228302
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Bilateral renal atrophy, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidne... OMIM:619609
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Myh9-Related Disease
Renal insufficiency, Nephropathy, Nephritis, Proteinuria ORPHA:182050
Frasier Syndrome
Nephrotic syndrome, Nephroblastoma, Focal segmental glomerulosclerosis, Renal insufficiency, Prot... ORPHA:347
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Renal insuffic... OMIM:256300
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Glycosuria, Proteinuria, Hyperphosphaturia, Nephrocalcinosis OMIM:616026
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Proteinuria, Vesicoureteral re... ORPHA:261222
Leiomyomatosis, Diffuse, With Alport Syndrome
Abnormal renal physiology, Nephropathy, Hematuria, Thickened glomerular basement membrane, Renal ... OMIM:308940
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Renal tubular acidosis, Aminoaciduria, Nephropathy, Glycosuria, Proteinuria, Nephrocalcinosis OMIM:613404
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Proximal renal tubular ac... OMIM:146255
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Hematuria, Proteinuria ORPHA:1765
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria OMIM:618347
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Bicarbonate-wasting renal tubular acidosis, Incr... ORPHA:3337
Alport Syndrome 1, X-Linked
Nephrotic syndrome, Nephritis, Thickened glomerular basement membrane, Proteinuria, Renal insuffi... OMIM:301050
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Chronic kidney disease, Recurrent myoglobinuria, Acute kidney injury, Exercise-induce... ORPHA:368
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abnormality of the kidney, Proteinuria ORPHA:369
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Proteinuria OMIM:619858
Alport Syndrome
Nephrotic syndrome, Renal glomerular foam cells, Mesangial hypercellularity, Nephritis, Thickenin... ORPHA:63
Galloway-Mowat Syndrome 7
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:618348
Nephrotic Syndrome, Type 14
Nephrotic syndrome, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomerulosclerosis, ... OMIM:617575
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Proteinuria, Increased urinary O-linked sialope... OMIM:256550
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Proteinuria, Renal salt wasting OMIM:613845
Oligomeganephronia
Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral... ORPHA:2260
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria ORPHA:98895
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Low-molecular-weight proteinuri... OMIM:300554
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Elevated urinary norepinephrine OMIM:171420
Papillorenal Syndrome
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... OMIM:120330
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Glomerulonephritis, Stage 5 ... OMIM:614376
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Aminoaciduria OMIM:603585
Cystinosis
Renal tubular dysfunction, Aminoaciduria, Nephropathy, Proteinuria, Renal insufficiency ORPHA:213
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Hyperp... ORPHA:436271
Free Sialic Acid Storage Disease
Nephrotic syndrome, Proteinuria ORPHA:834
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Hypospadias, Proteinuria, Glomerulonephritis, Glomerular sclerosis OMIM:619428
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Renal Agenesis
Renal agenesis, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... ORPHA:411709
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Glycosuria, Abnormal urine potass... ORPHA:411634
Pauci-Immune Glomerulonephritis
Nephrotic range proteinuria, Decreased glomerular filtration rate, Macroscopic hematuria, Glomeru... ORPHA:93126
Heme Oxygenase 1 Deficiency
Nephritis, Hematuria, Proteinuria OMIM:614034
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Wild Type Attr Amyloidosis
Renal insufficiency, Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:330001
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal interstiti... ORPHA:85450
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Hyperp... OMIM:220110
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Proteinuria, Elevated urinary epinephrine, Elevated urinary... ORPHA:276621
Cryoglobulinemic Vasculitis
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency ORPHA:91138
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Proteinuria ORPHA:69126
Proximal Renal Tubular Acidosis
Nephrolithiasis, Aminoaciduria, Hyperuricosuria, Glycosuria, Global proximal tubulopathy, Low-mol... ORPHA:47159
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Myoglobinuria OMIM:231530
Leigh Syndrome With Nephrotic Syndrome
Nephrotic syndrome, Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Heavy prote... ORPHA:255249
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Glo... OMIM:607426
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic aciduria, Homocystinuria, Nephropathy, Hematuria, Renal insufficiency, Proteinuria,... OMIM:277400
Distal Renal Tubular Acidosis
Nephrolithiasis, Aminoaciduria, Decreased glomerular filtration rate, Low-molecular-weight protei... ORPHA:18
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Oliguria, Acute kidney injury, Renal insufficiency, Exercise... ORPHA:99845
Pediatric Systemic Lupus Erythematosus
Dark urine, Nephrotic syndrome, Nephritis, Abnormality of the urinary system, Hematuria, Proteinu... ORPHA:93552
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Thrombotic Thrombocytopenic Purpura, Hereditary
Microscopic hematuria, Hemolytic-uremic syndrome, Proteinuria, Abnormal renal physiology OMIM:274150
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Hyperinsulinism Due To Hnf4A Deficiency
Renal Fanconi syndrome, Glycosuria, Proteinuria ORPHA:263455
Fabry Disease
Renal insufficiency, Lipiduria, Urinary mulberry cells, Proteinuria OMIM:301500
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Renal hypoplasia, Proteinuria ORPHA:1307
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Nephrotic syndrome, Decreased glomerular filtration rate, Tubulointerstit... ORPHA:488627
Glycogen Storage Disease Due To Aldolase A Deficiency
Myoglobinuria, Acute kidney injury ORPHA:57
Aapoaiv Amyloidosis
Chronic kidney disease, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, P... ORPHA:439232
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency ORPHA:36412
Schimke Immuno-Osseous Dysplasia
Nephrotic range proteinuria, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Micros... ORPHA:1830
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine, Hematuria, Renal cell carcinoma, Proteinuria, Elevated urinary epineph... ORPHA:29072
Pseudo-Torch Syndrome 3
Acute kidney injury, Proteinuria OMIM:618886
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Renal duplication, Tubulointerstitial nephritis, Proteinuria,... ORPHA:33001
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Unilateral renal agenesis, Abnormality of the kidney, Hypospadias, Glycosuria, A... OMIM:137920
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney ORPHA:251004
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency ORPHA:86818
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2715
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria ORPHA:90060
Ohdo Syndrome
Proteinuria OMIM:249620
Pheochromocytoma
Proteinuria, Elevated urinary norepinephrine, Renal artery stenosis OMIM:171300
Malakoplakia
Dysuria, Urinary urgency, Hematuria, Urinary hesitancy, Proteinuria, Urinary bladder inflammation ORPHA:556
Simple Cryoglobulinemia
Nephrotic syndrome, Mesangial hypercellularity, Nephritis, Abnormality of the kidney, Membranopro... ORPHA:91139
Aicardi-Goutieres Syndrome 9
Micropenis, Recurrent urinary tract infections, Hyperechogenic kidneys, Thickened glomerular base... OMIM:619487
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5... OMIM:242900
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Nephritis, Renal tubular atrophy, Enlarged kidney, Focal segmental glomerulos... OMIM:617303
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Infantile Nephropathic Cystinosis
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal Fan... ORPHA:411629
Galloway-Mowat Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:2065
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria OMIM:255125
Majeed Syndrome
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:77297
Legionnaires Disease
Renal insufficiency, Hematuria, Proteinuria ORPHA:549
Renal Nutcracker Syndrome
Microscopic hematuria, Hematuria, Proteinuria, Renal artery stenosis ORPHA:71273
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Multiple bladder diverticula, Proteinuria ORPHA:2728
Cystinosis, Nephropathic
Nephrolithiasis, Medullary nephrocalcinosis, Aminoaciduria, Polyuria, Glycosuria, Hematuria, Low-... OMIM:219800
Eosinophilic Granulomatosis With Polyangiitis
Hematuria, Tubulointerstitial nephritis, Proteinuria, Renal insufficiency, Glomerulopathy ORPHA:183
Carnitine Palmitoyltransferase Ii Deficiency
Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Tubulointerstitial nephritis, Polycystic ... ORPHA:157
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Red-brown urine ORPHA:228305
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Dicarboxylic aciduria, Tubulointerstitial... ORPHA:228308
Galloway-Mowat Syndrome 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Glo... OMIM:617729
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypospadias, Mild proteinuria, Renal insufficiency OMIM:619147
Nail-Patella Syndrome
Nephrotic syndrome, Hematuria, Renal insufficiency, Proteinuria, Glomerulonephritis OMIM:161200
Glycogen Storage Disease Ia
Nephrolithiasis, Decreased glomerular filtration rate, Enlarged kidney, Focal segmental glomerulo... OMIM:232200
Donnai-Barrow Syndrome
Proteinuria, Non-acidotic proximal tubulopathy OMIM:222448
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Chronic kidney disease, Nephropathy, Hematuria, Proteinuria, Stage 5 chronic kidney disease ORPHA:1018
Nail-Patella Syndrome
Nephrotic syndrome, Nephritis, Abnormality of the kidney, Hematuria, Thickened glomerular basemen... ORPHA:2614
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Nephrotic syndrome, Heparan sulfate excretion in urine, Enlarged kidney, Urinary glycosaminoglyca... ORPHA:505248
Martin-Probst Syndrome
Renal insufficiency, Chordee, Proteinuria, Micropenis OMIM:300519
Wilson Disease
Renal tubular dysfunction, Nephrolithiasis, Aminoaciduria, Glycosuria, Hypercalciuria, Proteinuri... OMIM:277900
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Mild proteinuria OMIM:619685
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Proteinuria, Glomerular sclerosis ORPHA:247691
Glycogen Storage Disease Ic
Decreased glomerular filtration rate, Hematuria, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:232240
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Nephroblastoma, Proteinuria OMIM:612469
Glycogen Storage Disease Ib
Nephrolithiasis, Decreased glomerular filtration rate, Enlarged kidney, Focal segmental glomerulo... OMIM:232220
Spondyloenchondrodysplasia
Chronic kidney disease, Hematuria, Proteinuria ORPHA:1855
Congenital Disorder Of Glycosylation, Type Ia
Renal cyst, Nephrotic syndrome, Proteinuria, Proximal tubulopathy OMIM:212065
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Decreased glomerular filtration rate, Glomerulonephritis, Hematuria, Olig... ORPHA:340
Hellp Syndrome
Hemoglobinuria, Acute kidney injury, Proteinuria ORPHA:244242
Gaucher Disease Type 1
Hematuria, Proteinuria ORPHA:77259
Lymphatic Filariasis
Nephrotic syndrome, Urethral obstruction, Abnormality of the kidney, Hematuria, Proteinuria, Glom... ORPHA:2035
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria OMIM:194380
Galloway-Mowat Syndrome 1
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:251300
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux OMIM:619377
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal cyst, Proteinuria, Renal insufficiency OMIM:208500
Lysinuric Protein Intolerance
Argininuria, Oroticaciduria, Decreased glomerular filtration rate, Abnormal renal tubule morpholo... ORPHA:470
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Hemoglobinuria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Renal in... ORPHA:447
Imerslund-Gräsbeck Syndrome
Proteinuria ORPHA:35858
Xfe Progeroid Syndrome
Renal insufficiency, Proteinuria OMIM:610965
Cockayne Syndrome Type 1
Renal insufficiency, Proteinuria ORPHA:90321
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Myoglobinuria ORPHA:71212
Agel Amyloidosis
Proteinuria, Stage 5 chronic kidney disease ORPHA:85448
Mitochondrial Trifunctional Protein Deficiency
Myoglobinuria OMIM:609015
Cornelia De Lange Syndrome 1
Reduced renal corticomedullary differentiation, Hypospadias, Abnormal renal morphology, Renal cys... OMIM:122470
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria OMIM:300908
Melas
Focal segmental glomerulosclerosis, Nephropathy, Proteinuria, Proximal tubulopathy ORPHA:550
Immunoglobulin A Vasculitis
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency ORPHA:761
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Gitelman Syndrome
Renal tubular acidosis, Nocturia, Focal segmental glomerulosclerosis, Renal Fanconi syndrome, Tub... ORPHA:358
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Proximal renal tubular acidosis, Renal Fanconi syndrome, Bicarbonaturia, Proteinur... OMIM:309000
Neuroleptic Malignant Syndrome
Acute kidney injury, Myoglobinuria, Proteinuria, Urinary incontinence ORPHA:94093
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Myoglobinuria OMIM:616878
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Myoglobinuria, Renal tubular acidosis ORPHA:79240
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Myoglobinuria, Renal tubular acidosis ORPHA:370
Oculocerebrorenal Syndrome Of Lowe
Nephrolithiasis, Oligosacchariduria, Aminoaciduria, Abnormal renal tubule morphology, Proximal re... ORPHA:534
Acquired Generalized Lipodystrophy
Proteinuria ORPHA:79086
Cocaine Intoxication
Hematuria, Tubulointerstitial nephritis, Acute kidney injury, Proteinuria, Glomerulonephritis ORPHA:90068
Fabry Disease
Nephrotic syndrome, Abnormal renal tubule morphology, Nephropathy, Hematuria, Proteinuria, Renal ... ORPHA:324
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Myoglobinuria, Renal tubular acidosis ORPHA:264580
Insulin-Resistance Syndrome Type B
Nephritis, Glycosuria, Proteinuria ORPHA:2298
Bardet-Biedl Syndrome 20
Proteinuria, Micropenis OMIM:619471
Malignant Hyperthermia Of Anesthesia
Myoglobinuria, Acute kidney injury ORPHA:423
Familial Mediterranean Fever
Nephrocalcinosis, Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:342
Holoprosencephaly
Abnormality of the urinary system, Hypoplasia of penis, Proteinuria ORPHA:2162
Gaucher Disease Type 3
Hematuria, Proteinuria ORPHA:77261
Pierson Syndrome
Nephrotic syndrome, Diffuse mesangial sclerosis, Hyperechogenic kidneys, Proteinuria, Stage 5 chr... OMIM:609049
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Focal segmental ... OMIM:614748
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Aminoaciduria, Decreased glomerular filtration rate, Sterile pyuria,... ORPHA:91500
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrolithiasis, Tubulointerstitial fibrosis, Enlarged kidney, Proteinuria, Nephrocalcinosis, Sta... ORPHA:79259
Granulomatosis With Polyangiitis
Ureteral stenosis, Hematuria, Proteinuria, Renal insufficiency, Hydronephrosis, Glomerulopathy ORPHA:900
Goodpasture Syndrome
Cylindruria, Macroscopic hematuria, Glomerular crescent formation, Renal insufficiency, Proteinur... OMIM:233450
Pearson Syndrome
Glycosuria, Renal cyst, Renal insufficiency, Proteinuria, Lacticaciduria ORPHA:699
Cockayne Syndrome
Nephrotic syndrome, Abnormal renal physiology, Unilateral renal agenesis, Renal hypoplasia, Prote... ORPHA:191
Aymé-Gripp Syndrome
Proteinuria ORPHA:1272
Relapsing Polychondritis
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency ORPHA:728
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hemoglobinuria, Acute kidney injury, Anuria ORPHA:90038
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis ORPHA:2750
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Proteinuria OMIM:311200
Cockayne Syndrome B
Renal insufficiency, Proteinuria, Micropenis OMIM:133540
Cockayne Syndrome A
Renal insufficiency, Proteinuria, Micropenis OMIM:216400
Postinfectious Vasculitis
Glomerulonephritis, Membranoproliferative glomerulonephritis, Hematuria, Proteinuria ORPHA:48435
Glycogen Storage Disease Xii
Hemoglobinuria OMIM:611881
Infection-Related Hemolytic Uremic Syndrome
Nephrotic range proteinuria, Oliguria, Acute kidney injury, Decreased urine output, Anuria ORPHA:544482
Williams Syndrome
Nephrolithiasis, Bladder diverticulum, Hypoplasia of penis, Recurrent urinary tract infections, R... ORPHA:904
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Proteinuria OMIM:619127
Gaucher Disease
Hematuria, Proteinuria ORPHA:355
Kawasaki Disease
Sterile pyuria, Proteinuria ORPHA:2331
Crimean-Congo Hemorrhagic Fever
Hematuria, Proteinuria ORPHA:99827
Pmm2-Cdg
Abnormal renal tubule morphology, Nephrotic syndrome, Multiple renal cysts, Proteinuria ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Klk14

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Klk14.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Klk14tm1.1(KOMP)Vlcg