Gene: Klk14 MGI:2447564

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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
decreased exploration in new environment Klk14tm1.1(KOMP)Vlcg HET Early adult 7.12×10-05
increased urine microalbumin level Klk14tm1.1(KOMP)Vlcg HOM Early adult 5.13×10-05

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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
N/A heterozygote 100% (4 of 4)
N/A homozygote Ambiguous
N/A heterozygote Not available
N/A Ambiguous
N/A heterozygote Ambiguous
N/A Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A Ambiguous
N/A heterozygote Ambiguous
N/A Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote Not available
N/A Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote 50% (2 of 4)
N/A Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote Not available
N/A Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote Not available
N/A Ambiguous
N/A heterozygote 50% (2 of 4)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A Ambiguous
N/A heterozygote Ambiguous
N/A Ambiguous
N/A heterozygote Not available
N/A Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote Not available
N/A Ambiguous
N/A heterozygote Not available
N/A Ambiguous
N/A heterozygote Not available
N/A Ambiguous
N/A heterozygote Not available
N/A Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote Not available
N/A Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote Not available
N/A Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote Not available
N/A Ambiguous
N/A heterozygote Not available
N/A Ambiguous
N/A heterozygote Not available
N/A Ambiguous
N/A heterozygote Not available
N/A Ambiguous
N/A heterozygote Ambiguous
N/A Ambiguous
N/A heterozygote Not available
N/A Ambiguous
N/A heterozygote Ambiguous
N/A Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote Not available
N/A Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote Not available
N/A Ambiguous
N/A heterozygote Not available
N/A Ambiguous
N/A heterozygote Not available
N/A Ambiguous
N/A heterozygote Not available
N/A Ambiguous
N/A heterozygote Not available
N/A Ambiguous
N/A heterozygote Not available
N/A Ambiguous
N/A heterozygote Ambiguous
N/A Ambiguous
N/A heterozygote Ambiguous
N/A Ambiguous
N/A heterozygote Not available
N/A Ambiguous
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
cranium
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
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 1.69% (1 of 59)
axial skeleton 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
cranium 1.59% (1 of 63)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
external ear 1.37% (1 of 73)
eye 0.2% (1 of 507)
femur pre-cartilage condensation 1.85% (1 of 54)
footplate 0.2% (1 of 507)
forearm 0.33% (1 of 304)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
head mesenchyme 1.69% (1 of 59)
heart 0.2% (1 of 507)
heart ventricle 1.69% (1 of 59)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
humerus pre-cartilage condensation 1.59% (1 of 63)
inner ear 1.59% (1 of 63)
intestine 1.75% (1 of 57)
liver 0.2% (1 of 502)
lower leg 0.33% (1 of 304)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
meckel's cartilage 0.0%
mesonephros of female 1.85% (1 of 54)
mesonephros of male 1.85% (1 of 54)
metanephros 1.85% (1 of 54)
midbrain 0.2% (1 of 507)
nasal septum 1.69% (1 of 59)
nose 1.3% (1 of 77)
notochord 1.69% (1 of 59)
oral cavity 0.2% (1 of 502)
outflow tract 1.69% (1 of 59)
pancreas 1.85% (1 of 54)
pericardium 1.85% (1 of 54)
pharynx 1.82% (1 of 55)
radius-ulna pre cartilage condensation 1.59% (1 of 63)
rib pre-cartilage condensation 1.79% (1 of 56)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
stomach 1.85% (1 of 54)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
thoracic vertebral cartilage condensation 1.85% (1 of 54)
tongue 1.85% (1 of 54)
trachea 1.72% (1 of 58)
trunk mesenchyme 1.69% (1 of 59)
umbilical artery embryonic part 1.69% (1 of 59)
umbilical vein embryonic part 1.69% (1 of 59)
upper arm 0.33% (1 of 304)
upper leg 0.33% (1 of 304)
urinary system 1.72% (1 of 58)
vibrissa 1.37% (1 of 73)

Associated Images

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

X-ray

XRay Images Forepaw

18 Images

Electrocardiogram (ECG)

Waveform Image

30 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

19 Images

Eye Morphology

Images Ophthalmoscopy

16 Images

Adult LacZ

LacZ Images Section

131 Images

X-ray

XRay Images Skull Lateral Orientation

19 Images

X-ray

XRay Images Whole Body Lateral Orientation

29 Images

Embryo LacZ

LacZ images wholemount

20 Images

X-ray

XRay Images Whole Body Dorso Ventral

29 Images

Sleep Wake

Wake state (bmp file)

12 Images

Eye Morphology

Images Slit Lamp

1 Images

Electroretinography 2

Rod and cone PDF

7 Images

Auditory Brain Stem Response

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

4 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
Albuminuria, Proteinuria OMIM:618884
Uridine-Cytidineuria
Elevated uridine in urine, Elevated urinary cytidine OMIM:618477
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Nephrotic Syndrome, Type 16
Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Proteinuria, Glomerulopathy OMIM:611771
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Iga Nephropathy, Susceptibility To, 3
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercellu... OMIM:616818
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... OMIM:603965
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Hematuria, Proteinuria, Focal segmental glomerulosclerosis OMIM:607832
Nail-Patella-Like Renal Disease
Microscopic hematuria, Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:2613
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... OMIM:137950
Iga Nephropathy, Susceptibility To, 2
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:613944
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617609
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephritis, Proteinuria OMIM:161900
Glomerulopathy With Fibronectin Deposits 2
Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal cell carcinoma,... OMIM:601894
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:615008
Heme Oxygenase 1 Deficiency
Hematuria, Proteinuria OMIM:614034
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Nep... OMIM:614131
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:615573
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... OMIM:308990
Iminoglycinuria
Hyperglycinuria, Hydroxyprolinuria, Prolinuria OMIM:242600
Iminoglycinuria
Hyperglycinuria, Hydroxyprolinuria, Prolinuria ORPHA:42062
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Cystathioninuria
Cystathioninuria OMIM:219500
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Phenylketonuria
Aminoaciduria ORPHA:716
Iga Nephropathy, Susceptibility To, 1
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:161950
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:600995
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... ORPHA:54370
Coenzyme Q10 Deficiency, Primary, 6
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Focal segmental glomerulosclerosis OMIM:614650
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Proteinuria, Nephrotic syndrome ORPHA:839
Galactosemia I
Increased level of galactitol in urine, Albuminuria, Galactosuria, Aminoaciduria OMIM:230400
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis OMIM:614196
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse m... OMIM:610725
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Nephrotic syndro... ORPHA:84090
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Renal insufficiency, Myoglobinuria OMIM:255110
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:614817
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Denys-Drash Syndrome
Nephroblastoma, Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:220
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617006
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Abnormality of the upper urinary tract, Renal tubula... ORPHA:99885
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome OMIM:613913
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Fanconi Renotubular Syndrome 3
Proteinuria, Aminoaciduria, Hyperphosphaturia, Glycosuria OMIM:615605
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Recurrent urinary tract infections, Decr... ORPHA:730
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Nephrotic range proteinuria, Glomerular sclerosis, Microscopic ... OMIM:619155
Amyloidosis, Familial Visceral
Hematuria, Proteinuria, Nephropathy, Nephrotic syndrome OMIM:105200
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis OMIM:619269
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... ORPHA:976
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Glomerulonephritis, Microscopic he... ORPHA:567544
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome OMIM:608709
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:603278
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial ... OMIM:615244
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephropathy, Glomerulopathy, Nephrotic syndrome, Renal insuff... OMIM:254900
Glycogen Storage Disease X
Renal insufficiency, Myoglobinuria OMIM:261670
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Protein... OMIM:618349
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Frasier Syndrome
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:136680
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Dent Disease 2
Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercalciuria, Chronic ki... OMIM:300555
Fanconi Renotubular Syndrome 1
Lacticaciduria, Aminoaciduria, Glycosuria, Renal insufficiency, Renal tubular dysfunction, Protei... OMIM:134600
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:2668
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Chronic kidney disease, Proteinuria OMIM:123550
Glycogen Storage Disease, Type Ixd
Exercise-induced myoglobinuria OMIM:300559
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glomerulonephr... OMIM:613496
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
C3 Glomerulopathy
Hematuria, Acute kidney injury, Membranoproliferative glomerulonephritis, Chronic kidney disease,... ORPHA:329918
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:614455
Imerslund-Grasbeck Syndrome 1
Proteinuria OMIM:261100
Acquired Partial Lipodystrophy
Microscopic hematuria, Proteinuria, Glomerulopathy ORPHA:79087
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Hematuria, Glomerular basement membrane lamellation, Stage 5 chronic kidney ... OMIM:203780
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Dysuria, Hematuria, Acute kidney injury, Abnormal penis morphology, Renal tubular epithelial necr... ORPHA:95455
Glycogen Storage Disease Xi
Renal insufficiency, Myoglobinuria OMIM:612933
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Aminoaciduria, Glycosuria, Nephrocalcinosis, Proteinuria OMIM:616026
Lcat Deficiency
Renal insufficiency, Hematuria, Proteinuria ORPHA:650
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria OMIM:618913
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Mild proteinuria, Stage 5 chronic kidney disease OMIM:614377
Fechtner syndrome
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:153640
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Albuminuria, Focal segmental glomerulosclerosis, Microscopic hematuria, Macroscopic hematuria, Ch... ORPHA:567546
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Renal amyloidosis, Proteinuria OMIM:134610
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Nephropathy, Proteinuria OMIM:166300
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612926
Al Amyloidosis
Albuminuria, Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney, Renal interstiti... ORPHA:85443
Galloway-Mowat Syndrome 5
Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Hematuria, Acute kidney injury, Proteinuria ORPHA:54057
Maternally-Inherited Diabetes And Deafness
Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:225
Igg4-Related Kidney Disease
Ureteral obstruction, Hematuria, Acute kidney injury, Albuminuria, Enlarged kidney, Abnormal uret... ORPHA:449395
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Proteinuria, Nephrotic syndrome OMIM:215250
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Peroxisome Biogenesis Disorder 1A (Zellweger)
Albuminuria, Aminoaciduria, Hydronephrosis, Hypospadias, Renal cortical microcysts OMIM:214100
Cednik Syndrome
Proteinuria, Nephrotic syndrome ORPHA:66631
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerul... OMIM:301006
Preeclampsia
Abnormality of the kidney, Chronic kidney disease, Acute kidney injury, Proteinuria ORPHA:275555
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:375
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Chronic kidney disease, Nep... ORPHA:85445
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Renal insufficiency, Myoglobinuria ORPHA:2364
Systemic Sclerosis
Acute kidney injury, Albuminuria, Glomerulonephritis, Chronic kidney disease, Renal insufficiency... ORPHA:90291
Dent Disease 1
Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, Proximal tubulopath... OMIM:300009
Alport Syndrome 3, Autosomal Dominant
Renal insufficiency, Hematuria, Glomerulonephritis, Glomerular basement membrane lamellation, Sta... OMIM:104200
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Renal tubular acidosis, Renal cyst, Renal insufficiency, Proteinuria OMIM:610205
Idiopathic Steroid-Resistant Nephrotic Syndrome
Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnormal glomerular viscera... ORPHA:567548
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic ki... OMIM:616730
Galloway-Mowat Syndrome 4
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial scler... OMIM:617730
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:1192
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Renal tubular epithelial necrosis, Tubulointerstitial nephritis, Stage 5 chronic... ORPHA:228302
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Glomerulonephritis, Stage 5 chronic kidney disease, Chronic tubulointerstitial ... OMIM:614376
Frasier Syndrome
Focal segmental glomerulosclerosis, Glomerulopathy, Nephroblastoma, Nephrotic syndrome, Renal ins... ORPHA:347
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Renal tubular atrophy, Renal insufficiency, Diffuse mesangial sclerosis, Co... OMIM:256300
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Renal artery stenosis, Nephropathy, Proteinuria OMIM:209010
Myh9-Related Disease
Renal insufficiency, Nephritis, Nephropathy, Proteinuria ORPHA:182050
Leiomyomatosis, Diffuse, With Alport Syndrome
Abnormal renal physiology, Renal insufficiency, Hematuria, Nephropathy, Glomerular basement membr... OMIM:308940
Distal 16P11.2 Microdeletion Syndrome
Vesicoureteral reflux, Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Protein... ORPHA:261222
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Proteinuria OMIM:618347
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hematuria, Distal renal tubular acidosis, Unilateral renal dysplasia, Renal dysplasia, Proximal r... OMIM:146255
Papillorenal Syndrome
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acid... ORPHA:3337
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria ORPHA:1765
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Microscopic hematuria, Glomerular basement membrane lamel... OMIM:301050
Xfe Progeroid Syndrome
Renal insufficiency, Proteinuria OMIM:610965
Alport Syndrome
Hematuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Proteinuria, Thickene... ORPHA:63
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Dark urine, Chronic kidney disease, Recurrent myoglobinuria, Exercise-induce... ORPHA:368
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria ORPHA:98895
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic ki... OMIM:618348
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse m... OMIM:617575
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abnormality of the kidney, Proteinuria ORPHA:369
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys, Proteinuria OMIM:613845
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Prote... OMIM:256550
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Low-molecular-weight proteinuria, Proximal tubulopathy, Hypercalciuria, ... OMIM:300554
Ebola Hemorrhagic Fever
Renal insufficiency, Proteinuria ORPHA:319218
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine, Proteinuria OMIM:171420
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, ... OMIM:220110
Wilson Disease
Hyperphosphaturia, Aminoaciduria, Glycosuria, Hypercalciuria, Renal tubular dysfunction, Nephroli... OMIM:277900
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, ... ORPHA:436271
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Unilateral renal agenesis, Abnormality of medullary p... ORPHA:2260
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Pauci-Immune Glomerulonephritis
Acute kidney injury, Nephrotic range proteinuria, Glomerular sclerosis, Decreased glomerular filt... ORPHA:93126
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Aminoaciduria, Glycosuria, Renal tubular dysfunction, Proteinuria OMIM:210550
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Renal Agenesis
Renal insufficiency, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Unilateral rena... ORPHA:411709
Renal Hypodysplasia/Aplasia 1
Renal dysplasia, Renal agenesis, Proteinuria OMIM:191830
Cystinosis
Aminoaciduria, Nephropathy, Renal insufficiency, Renal tubular dysfunction, Proteinuria ORPHA:213
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Low-molecular-weight proteinuria, Proximal tubulopathy, Abnormal urine p... ORPHA:411634
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Elev... ORPHA:276621
Wild Type Attr Amyloidosis
Renal insufficiency, Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:330001
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal potassium wasting, Pro... ORPHA:18
Cryoglobulinemic Vasculitis
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:91138
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Myoglobinuria OMIM:231530
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hematuria, Cystathioninuria, Nephropathy, Hemolytic-uremic syndrome, Methylmalonic aciduria, Rena... OMIM:277400
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Proteinuria ORPHA:69126
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Pediatric Systemic Lupus Erythematosus
Hematuria, Abnormality of the urinary system, Dark urine, Nephrotic syndrome, Renal insufficiency... ORPHA:93552
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Nephrotic syndrome, Heavy prote... ORPHA:255249
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Microscopic hematuria, Abnormal renal physiology, Proteinuria OMIM:274150
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Myoglobinuria ORPHA:713
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:609049
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Proteinuria, Renal Fanconi syndrome ORPHA:263455
Free Sialic Acid Storage Disease
Proteinuria, Nephrotic syndrome ORPHA:834
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria ORPHA:57
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Schimke Immuno-Osseous Dysplasia
Focal segmental glomerulosclerosis, Nephrotic range proteinuria, Nephropathy, Microscopic hematur... ORPHA:1830
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Decreased glomerular filtration rate, Tubulointerstitial nephritis, Chronic kidney disease, Nephr... ORPHA:488627
Hypocomplementemic Urticarial Vasculitis
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:36412
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Elev... ORPHA:29072
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Glomerulopathy, Tubulointerstitial nephritis, Renal duplicati... ORPHA:33001
Schimke Immunoosseous Dysplasia
Renal insufficiency, Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis OMIM:242900
Fabry Disease
Lipiduria, Renal insufficiency, Urinary mulberry cells, Proteinuria OMIM:301500
Pseudo-Torch Syndrome 3
Acute kidney injury, Proteinuria OMIM:618886
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Decreased numbers of nephrons, Renal hypoplasia, Proteinuria, Unilater... OMIM:137920
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Renal insufficiency, Microscopic hematuria, Proteinuria, Glomerulopathy ORPHA:86818
Aapoaiv Amyloidosis
Renal amyloidosis, Glomerular sclerosis, Chronic kidney disease, Abnormal renal medulla morpholog... ORPHA:439232
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Macroscopic hematuria, Proteinuria, Enlarged kidney ORPHA:251004
Severe Oculo-Renal-Cerebellar Syndrome
Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:2715
Yellow Fever
Renal insufficiency, Proteinuria, Nephropathy, Oliguria ORPHA:99829
Ohdo Syndrome
Proteinuria OMIM:249620
Hemorrhagic Fever-Renal Syndrome
Abnormal renal tubule morphology, Oliguria, Abnormal tubulointerstitial morphology, Renal insuffi... ORPHA:340
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Enlarged kidney, Renal tubular atrophy, Nephrotic syndrome, N... OMIM:617303
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Pheochromocytoma
Elevated urinary norepinephrine, Renal artery stenosis, Proteinuria OMIM:171300
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria OMIM:255125
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria ORPHA:90060
Galloway-Mowat Syndrome
Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:2065
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria, Abnormal tubuloin... ORPHA:411629
Legionnaires Disease
Renal insufficiency, Hematuria, Proteinuria ORPHA:549
Malakoplakia
Dysuria, Hematuria, Urinary hesitancy, Urinary bladder inflammation, Urinary urgency, Proteinuria ORPHA:556
Eosinophilic Granulomatosis With Polyangiitis
Hematuria, Glomerulopathy, Tubulointerstitial nephritis, Renal insufficiency, Proteinuria ORPHA:183
Renal Nutcracker Syndrome
Microscopic hematuria, Hematuria, Renal artery stenosis, Proteinuria ORPHA:71273
Majeed Syndrome
Microscopic hematuria, Proteinuria, Glomerulopathy ORPHA:77297
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Multiple bladder diverticula ORPHA:2728
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Red-brown urine, Myoglobinuria ORPHA:228305
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Tubulointerstitial ne... ORPHA:157
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Tubulointerstitial ne... ORPHA:228308
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Enlarged kidney, Decreased glomerular filtration rate, Nephro... OMIM:232200
Galloway-Mowat Syndrome 3
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial scler... OMIM:617729
Nail-Patella Syndrome
Hematuria, Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Proteinuria OMIM:161200
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Heparan sulfate excretion in urine, Nephrotic syndrome, Urinary glycosaminoglyca... ORPHA:505248
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Hematuria, Nephropathy, Chronic kidney disease, Stage 5 chronic kidney disease, Proteinuria ORPHA:1018
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Enlarged kidney, Decreased glomerular filtration rate, Nephro... OMIM:232220
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Mild proteinuria, Hypospadias OMIM:619147
Nail-Patella Syndrome
Nephritis, Hematuria, Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Nep... ORPHA:2614
Glycogen Storage Disease Ic
Hematuria, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insuff... OMIM:232240
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Renal cyst, Proteinuria, Nephrotic syndrome OMIM:212065
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Low-molecular-weight proteinuria OMIM:222448
Mental Retardation, X-Linked, Syndromic, Martin-Probst Type
Renal insufficiency, Micropenis, Proteinuria, Chordee OMIM:300519
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Glomerular sclerosis, Nephropathy, Proteinuria ORPHA:247691
Spondyloenchondrodysplasia
Hematuria, Chronic kidney disease, Proteinuria ORPHA:1855
Hellp Syndrome
Hemoglobinuria, Acute kidney injury, Proteinuria ORPHA:244242
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria OMIM:300908
Cystinosis, Nephropathic
Generalized aminoaciduria, Polyuria, Glycosuria, Microscopic hematuria, Stage 5 chronic kidney di... OMIM:219800
Gaucher Disease Type 1
Hematuria, Proteinuria ORPHA:77259
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria OMIM:194380
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal insufficiency, Diffuse mesangial sc... OMIM:251300
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Renal cyst, Renal insufficiency, Nephritis, Proteinuria OMIM:208500
Lysinuric Protein Intolerance
Abnormal renal tubule morphology, Renal amyloidosis, Membranous nephropathy, Decreased glomerular... ORPHA:470
Agel Amyloidosis
Stage 5 chronic kidney disease, Proteinuria ORPHA:85448
Lymphatic Filariasis
Urethral obstruction, Hematuria, Glomerulonephritis, Nephrotic syndrome, Abnormality of the kidne... ORPHA:2035
Cockayne Syndrome Type 1
Renal insufficiency, Proteinuria ORPHA:90321
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Myoglobinuria ORPHA:71212
Mitochondrial Trifunctional Protein Deficiency
Myoglobinuria OMIM:609015
Melas
Proximal tubulopathy, Proteinuria, Nephropathy, Focal segmental glomerulosclerosis ORPHA:550
Gitelman Syndrome
Focal segmental glomerulosclerosis, Nocturia, Renal potassium wasting, Enuresis, Urinary incontin... ORPHA:358
Cornelia De Lange Syndrome 1
Abnormal renal morphology, Renal hypoplasia, Vesicoureteral reflux, Renal cyst, Ectopic kidney, R... OMIM:122470
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Myoglobinuria OMIM:616878
Neuroleptic Malignant Syndrome
Urinary incontinence, Proteinuria, Acute kidney injury, Myoglobinuria ORPHA:94093
Paroxysmal Nocturnal Hemoglobinuria
Abnormal renal physiology, Hemoglobinuria ORPHA:447
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Renal tubular acidosis, Myoglobinuria ORPHA:370
Fabry Disease
Abnormal renal tubule morphology, Hematuria, Nephropathy, Glomerulopathy, Nephrotic syndrome, Ren... ORPHA:324
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Multiple renal cysts, Hematuria, Oligosacchariduria, Aminoacidu... ORPHA:534
Immunoglobulin A Vasculitis
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:761
Acquired Generalized Lipodystrophy
Proteinuria ORPHA:79086
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Renal tubular acidosis, Myoglobinuria ORPHA:264580
Cocaine Intoxication
Hematuria, Acute kidney injury, Glomerulonephritis, Tubulointerstitial nephritis, Proteinuria ORPHA:90068
Insulin-Resistance Syndrome Type B
Proteinuria, Nephritis, Glycosuria ORPHA:2298
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Myoglobinuria ORPHA:423
Gaucher Disease Type 3
Hematuria, Proteinuria ORPHA:77261
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Proteinuria OMIM:311200
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Focal segmental glomerulosclerosis, Renal tubular atrophy, Decreased glomerular filtration rate, ... OMIM:614748
Lowe Oculocerebrorenal Syndrome
Hyperphosphaturia, Aminoaciduria, Bicarbonaturia, Proximal renal tubular acidosis, Renal Fanconi ... OMIM:309000
Holoprosencephaly
Abnormality of the urinary system, Proteinuria, Hypoplasia of penis ORPHA:2162
Granulomatosis With Polyangiitis
Hematuria, Glomerulopathy, Hydronephrosis, Ureteral stenosis, Renal insufficiency, Proteinuria ORPHA:900
Familial Mediterranean Fever
Nephrocalcinosis, Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:342
Goodpasture Syndrome
Erythrocyte cylindruria, Cylindruria, Glomerulonephritis, Macroscopic hematuria, Renal insufficie... OMIM:233450
Cockayne Syndrome
Abnormal renal physiology, Neurogenic bladder, Renal hypoplasia, Unilateral renal agenesis, Urina... ORPHA:191
Aymé-Gripp Syndrome
Proteinuria ORPHA:1272
Relapsing Polychondritis
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:728
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Tubulointerstitial fibrosis, Enlarged kidney, Stage 5 chronic kidney disease, Nephrocalcinosis, N... ORPHA:79259
Pearson Syndrome
Lacticaciduria, Glycosuria, Renal cyst, Renal insufficiency, Proteinuria ORPHA:699
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Mild proteinuria, Renal tubular epithelial necrosis, Renal neutrophi... ORPHA:91500
Orofaciodigital Syndrome Type 1
Renal insufficiency, Hydronephrosis, Proteinuria, Multicystic kidney dysplasia ORPHA:2750
Cockayne Syndrome A
Renal insufficiency, Micropenis, Proteinuria OMIM:216400
Cockayne Syndrome B
Renal insufficiency, Micropenis, Proteinuria OMIM:133540
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Hemoglobinuria, Acute kidney injury ORPHA:90038
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Nephrotic range proteinuria, Oliguria, Decreased urine output ORPHA:544482
Williams Syndrome
Multiple renal cysts, Renal hypoplasia, Renovascular hypertension, Recurrent urinary tract infect... ORPHA:904
Gaucher Disease
Hematuria, Proteinuria ORPHA:355
Mandibuloacral Dysplasia Progeroid Syndrome
Proteinuria, Focal segmental glomerulosclerosis OMIM:619127
Kawasaki Disease
Proteinuria, Sterile pyuria ORPHA:2331
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 PMC5503261

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MGI Allele Allele Type Produced
Klk14tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Klk14tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Klk14tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice

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