Gene Summary

Name:
midkine
Synonyms:
MK,  Mek

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 circulating HDL cholesterol level Mdktm1.1(KOMP)Mbp HOM Early adult 2.07×10-07
decreased mean corpuscular volume Mdktm1.1(KOMP)Mbp HOM Early adult 9.03×10-05
increased circulating chloride level Mdktm1.1(KOMP)Mbp HET Early adult 1.37×10-05
preweaning lethality, incomplete penetrance Mdktm1.1(KOMP)Mbp HOM   Early adult 0.00
increased circulating sodium level Mdktm1.1(KOMP)Mbp HET Early adult 1.52×10-05

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
Kidney  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 50% (1 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Sleep Wake

Wake state (bmp file)

19 Images

X-ray

XRay Images Skull Lateral Orientation

23 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

23 Images

Adult LacZ

LacZ Images Section

5 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

23 Images

X-ray

XRay Images Whole Body Lateral Orientation

23 Images

X-ray

XRay Images Forepaw

23 Images

Combined SHIRPA and Dysmorphology

Images

5 Images

Electroretinography 2

Rod and cone PDF

6 Images

Human diseases caused by Mdk 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 Mdk by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxie... ORPHA:468726
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Hyperuricemic Nephropathy, Familial Juvenile, 3
Renal insufficiency, Nephropathy OMIM:614227
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Proteinuria, Glomerulopathy OMIM:611771
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... OMIM:137950
Bardet-Biedl Syndrome 10
Cognitive impairment, Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Branchiootorenal Syndrome 2
Renal dysplasia, Renal insufficiency OMIM:610896
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... OMIM:619374
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Bardet-Biedl Syndrome 18
Cognitive impairment, Renal insufficiency OMIM:615995
C3 Glomerulopathy 3
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephritis, Proteinuria OMIM:161900
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Glomerulopathy With Fibronectin Deposits 2
Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal cell carcinoma,... OMIM:601894
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:615008
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Nephropathy, Abnormal tubulointerstitial morphology OMIM:602114
Bardet-Biedl Syndrome 16
Renal insufficiency, Recurrent otitis media, Renal dysplasia, Renal cyst, Cognitive impairment, R... OMIM:615993
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Camos Syndrome
Renal insufficiency, Microcephaly, Nephrotic syndrome ORPHA:83472
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... ORPHA:54370
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Acute kidney injury, Proteinuria, Synovitis, Abnormal glomerular mesangium morphology,... ORPHA:567544
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Renal insufficiency, Nephrotic syndrome OMIM:613779
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... OMIM:603965
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Urofacial Syndrome 2
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... OMIM:615112
Iga Nephropathy, Susceptibility To, 2
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:613944
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Cystinuria
Recurrent urinary tract infections, Cystinuria, Ornithinuria, Argininuria, Renal insufficiency, N... OMIM:220100
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Nail-Patella-Like Renal Disease
Microscopic hematuria, Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:2613
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Frontotemporal cerebral atrophy, Motor deteri... ORPHA:412066
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Renal tubular atrophy, Gout, Renal insufficiency, Nephritis OMIM:162000
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Hematuria, Proteinuria, Focal segmental glomerulosclerosis OMIM:607832
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 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
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
Nephrotic Syndrome, Type 13
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal segmental glomerulosc... OMIM:616893
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Renal insufficiency, Diff... OMIM:256370
Shwachman-Diamond Syndrome
Neutropenia, Pancytopenia, Pancreatic hypoplasia, Anemia, Leukopenia, Thrombocytopenia, Elevated ... ORPHA:811
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... OMIM:308990
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Diabetes Insipidus, Nephrogenic, X-Linked
Hypernatremia OMIM:304800
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume, Hy... ORPHA:90044
Complement Factor H Deficiency
Glomerular subendothelial electron-dense deposits, Thickened glomerular basement membrane, Hematu... OMIM:609814
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Nephrotic Syndrome, Type 10
Steroid-resistant nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulon... OMIM:615861
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Nep... OMIM:614131
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Nephrolithiasis OMIM:614723
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617609
Nephronophthisis
Renal insufficiency ORPHA:655
Iga Nephropathy, Susceptibility To, 1
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:161950
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Nonspherocytic hemolytic... ORPHA:3202
Iga Nephropathy, Susceptibility To, 3
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercellu... OMIM:616818
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Sensorineural hearing impairment ORPHA:2690
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... ORPHA:976
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hypertriglyceridemia, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced nat... OMIM:608898
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Nephrosialidosis
Renal insufficiency, Nephropathy, Nephrotic syndrome OMIM:256150
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease OMIM:618250
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Retinitis Pigmentosa 59
Renal insufficiency, Micropenis OMIM:613861
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Nephrotic syndro... ORPHA:84090
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Childhood Disintegrative Disorder
Dementia, Abnormal emotion/affect behavior, Urinary incontinence, Social and occupational deterio... ORPHA:168782
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:613237
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-glutamic acid in ... ORPHA:3008
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Nephrotic Syndrome, Type 21
Steroid-resistant nephrotic syndrome, Diffuse mesangial sclerosis, Podocyte foot process effaceme... OMIM:618594
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephropathy, Glomerulopathy, Nephrotic syndrome, Renal insuff... OMIM:254900
Neuroleptic Malignant Syndrome
Hypocalcemia, Hypernatremia, Hyponatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency, Microcephaly OMIM:248760
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts OMIM:609886
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Stage 4 chronic kidney disease, Renal insufficiency, Acute kidney injury, Uric acid nephrolithias... ORPHA:411536
Nephrotic Syndrome, Type 12
Hematuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 chro... OMIM:616892
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Pandas
Claustrophobia, Depression, Agoraphobia, Enuresis, Separation insecurity, Emotional lability, Imp... ORPHA:66624
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:613090
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Nephronophthisis 18
Nephronophthisis, Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:615862
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Dent Disease 2
Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercalciuria, Chronic ki... OMIM:300555
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Depression, Apathy, Basal ganglia calcification, Anxiety, Cognitive impairment OMIM:615483
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:615573
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome OMIM:249660
Hinman Syndrome
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... ORPHA:84085
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Abnormal... ORPHA:766
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Acrorenal Syndrome
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia ORPHA:971
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
C3 Glomerulopathy
Hematuria, Acute kidney injury, Membranoproliferative glomerulonephritis, Chronic kidney disease,... ORPHA:329918
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Low-frequency sensorineural heari... OMIM:613101
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease, Primary microcephaly ORPHA:2172
Coach Syndrome 3
Renal interstitial fibrosis, Nephronophthisis, Renal interstitial inflammation, Renal tubular atr... OMIM:619113
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Renal insufficiency, Nephropathy, Multicystic kidney dysplasia ORPHA:1909
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Reversible renal failure, Uveitis, Glomerulonephritis, Anterior uveitis, Acute tubulo... OMIM:607665
Joubert Syndrome 4
Cognitive impairment, Nephronophthisis, Renal insufficiency, Abnormal renal medulla morphology OMIM:609583
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Hematuria, Glomerular basement membrane lamellation, Stage 5 chronic kidney ... OMIM:203780
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Gout, Renal cyst, Chronic kidney disease, Cognit... OMIM:617056
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Nephropathy, Gout, Increased urinary ura... ORPHA:79233
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HD... OMIM:615703
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:600995
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis ORPHA:3327
Sitosterolemia 1
Hypercholesterolemia, Chronic hemolytic anemia, Episodic hemolytic anemia, Stomatocytosis, Reticu... OMIM:210250
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Posterior Urethral Valve
Dysuria, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Unilateral renal ... ORPHA:93110
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Nephropathy, Renal cyst, Leukoencephalopathy, Renal insufficiency OMIM:611773
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:602522
Malaria
Cognitive impairment, Acute kidney injury ORPHA:673
Amyloidosis, Finnish Type
Renal insufficiency, Nephrotic syndrome OMIM:105120
Liddle Syndrome 3
Hypokalemia OMIM:618126
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Cerebral atrophy, Polymicrogyria, Stage 5 chronic kidney disease, Nephrotic... OMIM:301006
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Say-Barber-Miller Syndrome
Macrotia, Decreased circulating antibody level, Low-set, posteriorly rotated ears, Impaired neutr... ORPHA:3132
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Gout, Renal insufficiency, Stage 5 chronic kidney disease OMIM:618061
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse m... OMIM:610725
Bardet-Biedl Syndrome 19
Renal insufficiency OMIM:615996
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Congenital Isolated Acth Deficiency
Hyponatremia ORPHA:199296
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Multifocal hyperintensity of cerebral whi... ORPHA:488627
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:614817
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glomerulonephr... OMIM:613496
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial ... OMIM:615244
Birk-Landau-Perez Syndrome
Cognitive impairment, Renal insufficiency, Tubulointerstitial nephritis, Hyperechogenic kidneys OMIM:617595
Lesch-Nyhan Syndrome
Gout, Renal insufficiency, Hematuria ORPHA:510
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria, Emotional lability OMIM:300653
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Hyperkalemia ORPHA:682
Alport Syndrome 3, Autosomal Dominant
Renal insufficiency, Hematuria, Glomerulonephritis, Glomerular basement membrane lamellation, Sta... OMIM:104200
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Renal insufficiency, Myoglobinuria OMIM:255110
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, R... ORPHA:730
Primary Hyperoxaluria Type 2
Ureteral obstruction, Recurrent urinary tract infections, Hyperoxaluria, Renal insufficiency, Nep... ORPHA:93599
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Aminoaciduria, Renal insufficiency, Ne... OMIM:260000
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Hypercalciuria, Renal insufficiency OMIM:613388
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria OMIM:134610
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Galloway-Mowat Syndrome 4
Glomerular sclerosis, Cerebral atrophy, Polymicrogyria, Stage 5 chronic kidney disease, Nephrotic... OMIM:617730
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Nephrotic range proteinuria, Glomerular sclerosis, Microscopic ... OMIM:619155
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Nephropathy, Proteinuria OMIM:166300
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:171876
Hypouricemia, Renal, 1
Uric acid nephrolithiasis, Increased urinary urate, Renal tubular epithelial necrosis, Acute kidn... OMIM:220150
Galloway-Mowat Syndrome 5
Pachygyria, Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Microcephal... OMIM:617731
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Hyponatremia, Hyperuricemia OMIM:613845
Medullary cystic kidney disease 2
Multiple renal cysts, Enuresis, Renal tubular atrophy, Gout, Renal corticomedullary cysts, Tubulo... OMIM:603860
Frasier Syndrome
Increased circulating gonadotropin level, Focal segmental glomerulosclerosis, Glomerulopathy, Nep... ORPHA:347
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... OMIM:174000
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Hematuria, Acute kidney injury, Proteinuria ORPHA:54057
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Maternally-Inherited Diabetes And Deafness
Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:225
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Vacuolated lymphocytes, Leukopenia, Anemia, Hypersplenism, Bone-marrow foam... OMIM:278000
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:31824
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Microcephaly, Chronic kidney disease OMIM:617661
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Acquired Ichthyosis
Renal insufficiency, Recurrent skin infections ORPHA:454
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... ORPHA:100924
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Renal tubular epithelial necrosis, Tubulointerstitial nephritis, Stage 5 chronic... ORPHA:228302
Liddle Syndrome
Renal insufficiency, Nephropathy ORPHA:526
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnormal glome... ORPHA:567548
Senior-Loken Syndrome
Nephronophthisis, Chronic kidney disease, Stage 5 chronic kidney disease ORPHA:3156
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Hartsfield Syndrome
Hypernatremia OMIM:615465
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Anti-Glomerular Basement Membrane Disease
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency, Arthritis ORPHA:375
Nephronophthisis 16
Nephronophthisis, Renal insufficiency, Polycystic kidney dysplasia, Enlarged kidney OMIM:615382
Dent Disease 1
Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, Proximal tubulopath... OMIM:300009
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral re... ORPHA:2704
Rhyns Syndrome
Nephronophthisis, Pituitary hypothyroidism, Chronic kidney disease, Renal insufficiency, Anterior... OMIM:602152
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly OMIM:612526
Hereditary Xanthinuria
Decreased urinary urate, Hematuria, Acute kidney injury, Xanthinuria, Xanthine nephrolithiasis, I... ORPHA:3467
Hyperuricemia, Hprt-Related
Hyperuricosuria, Renal insufficiency, Nephrolithiasis, Podagra OMIM:300323
Glycogen Storage Disease X
Renal insufficiency, Myoglobinuria OMIM:261670
Megabladder, Congenital
Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:618719
Xanthinuria, Type Ii
Renal insufficiency, Nephrolithiasis OMIM:603592
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Holoprosencephaly-Caudal Dysgenesis Syndrome
Holoprosencephaly, Renal insufficiency, Abnormality of the diencephalon, Microcephaly ORPHA:2165
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Increased LDL cholesterol concentration, Splenomegaly, Elevated circulating... OMIM:616828
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:2668
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Uric acid nephrolithiasis, Gout, Hyperuricosuria, Increased urinary urate, R... ORPHA:411543
Alport Syndrome
Hematuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Proteinuria, Thickene... ORPHA:63
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Fanconi Renotubular Syndrome 1
Lacticaciduria, Aminoaciduria, Glycosuria, Renal insufficiency, Renal tubular dysfunction, Protei... OMIM:134600
Prune Belly Syndrome
Urogenital sinus anomaly, Hydroureter, Recurrent urinary tract infections, Abnormality of the ure... ORPHA:2970
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Chronic kidney disease, Nep... ORPHA:85445
Lcat Deficiency
Renal insufficiency, Hematuria, Proteinuria ORPHA:650
Complement Factor I Deficiency
Pyelonephritis, Recurrent otitis media, Recurrent sinusitis, Recurrent urinary tract infections, ... OMIM:610984
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Hy... OMIM:191800
Caudal Regression Sequence
Renal agenesis, Arrhinencephaly, Abnormality of the ureter, Vesicoureteral reflux, Impulsivity, E... ORPHA:3027
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... OMIM:207750
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:603278
Myh9-Related Disease
Renal insufficiency, Nephritis, Nephropathy, Proteinuria ORPHA:182050
Fechtner syndrome
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:153640
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly ORPHA:75234
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Combined Oxidative Phosphorylation Deficiency 11
Pachygyria, Renal hypoplasia, Hypoplasia of the corpus callosum, Renal tubular acidosis, Renal dy... OMIM:614922
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Kleefstra Syndrome Due To 9Q34 Microdeletion
Depression, Absent septum pellucidum, Apathy, Subcortical cerebral atrophy, Cerebral cortical atr... ORPHA:96147
Hepatic Veno-Occlusive Disease
Renal insufficiency ORPHA:890
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Nephritis, Stage 5 chronic kidney disease OMIM:609057
Preeclampsia
Abnormality of the kidney, Chronic kidney disease, Acute kidney injury, Proteinuria ORPHA:275555
Hypervitaminosis A, Susceptibility To
Renal insufficiency OMIM:240150
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Lacticaciduria, Aminoaciduria, Pancreatitis OMIM:619386
Glycogen Storage Disease Xi
Renal insufficiency, Myoglobinuria OMIM:612933
Snakebite Envenomation
Hyponatremia ORPHA:449285
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
Leukocyte Adhesion Deficiency
Impaired platelet aggregation, Peritonitis, Thrombocytosis, Hyperinsulinemic hypoglycemia, Leukoc... ORPHA:2968
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Jeune Syndrome
Nephronophthisis, Renal insufficiency, Nephropathy ORPHA:474
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:614455
Xfe Progeroid Syndrome
Renal insufficiency, Microcephaly, Proteinuria OMIM:610965
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Renal tubular atrophy, Renal insufficiency, Diffuse mesangial sclerosis, Co... OMIM:256300
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Cystinuria
Renal insufficiency, Hematuria, Nephrolithiasis ORPHA:214
Pauci-Immune Glomerulonephritis
Arteritis, Acute kidney injury, Scleritis, Nephrotic range proteinuria, Glomerular sclerosis, Dec... ORPHA:93126
Nephrotic Syndrome, Type 14
Mental deterioration, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrot... OMIM:617575
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Microscopic hematuria, Glomerular basement membrane lamel... OMIM:301050
Pediatric Systemic Lupus Erythematosus
Skin rash, Hematuria, Proteinuria, Dark urine, Abnormality of the urinary system, Discoid lupus r... ORPHA:93552
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Cutaneous abscess, Hepatic lobular inflammation, El... ORPHA:101330
Bardet-Biedl Syndrome 17
Cognitive impairment, Renal cyst, Stage 5 chronic kidney disease OMIM:615994
Leiomyomatosis, Diffuse, With Alport Syndrome
Abnormal renal physiology, Renal insufficiency, Hematuria, Nephropathy, Glomerular basement membr... OMIM:308940
Congenital Anomalies Of Kidney And Urinary Tract 1
Ureteropelvic junction obstruction, Vesicoureteral reflux, Stage 5 chronic kidney disease OMIM:610805
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hematuria, Dementia, Cystathioninuria, Nephropathy, Hemolytic-uremic syndrome, Cerebral cortical ... OMIM:277400
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Lissencephaly ORPHA:281090
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury ORPHA:33111
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Nephropathy, Renal dysplasia, Renal cyst, Stage 5 chronic kidney disease, Cogni... OMIM:266920
Glutaryl-Coa Dehydrogenase Deficiency
Open operculum, Abnormal caudate nucleus morphology, Dementia, Pallidal degeneration, Glutaric ac... ORPHA:25
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hematuria, Distal renal tubular acidosis, Unilateral renal dysplasia, Renal dysplasia, Basal gang... OMIM:146255
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Polycystic kidney dysplasia, Stage 5 chr... OMIM:613095
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Renal tubular acidosis, Renal cyst, Renal insufficiency, Proteinuria OMIM:610205
Babesiosis
Renal insufficiency, Depression ORPHA:108
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Abnormality of the thyroid gland, Diabetes mellitus, Granuloma ORPHA:542592
Acrorenal Syndrome, Autosomal Recessive
Renal hypoplasia, Renal insufficiency, Decreased numbers of nephrons OMIM:201310
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic ki... OMIM:616730
Frasier Syndrome
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:136680
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Pachygyria, Agenesis of corpus callosum, Cystic renal dysplasia, Renal tubular e... ORPHA:228308
Muckle-Wells Syndrome
Renal amyloidosis, Maculopapular exanthema, Conjunctivitis, Renal insufficiency, Recurrent aphtho... OMIM:191900
Laurence-Moon Syndrome
Renal insufficiency, Displacement of the urethral meatus, Hypoplasia of penis ORPHA:2377
Paragangliomas 1
Extraadrenal pheochromocytoma, Vagal paraganglioma, Conductive hearing impairment, Adrenal pheoch... OMIM:168000
Bartter Syndrome, Type 1, Antenatal
Increased circulating renin level, Increased serum prostaglandin E2, Hypokalemia, Hypercalcemia, ... OMIM:601678
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic ki... OMIM:618348
Cholera
Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Acute Intermittent Porphyria
Dysuria, Renal insufficiency, Depression, Dark urine, Elevated urinary delta-aminolevulinic acid,... ORPHA:79276
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Renal insufficiency, Myoglobinuria ORPHA:2364
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Re... OMIM:256100
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency ORPHA:28
Nephrolithiasis, Calcium Oxalate
Ureteropelvic junction obstruction, Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperox... OMIM:167030
Nephropathy, Deafness, And Hyperparathyroidism
Renal insufficiency, Nephropathy OMIM:256120
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Hypomethioninemia, Methylmalonic acidemia, Increased mean corpuscular volum... OMIM:277410
Congenital Disorder Of Glycosylation, Type Iig
Cerebral atrophy, Hydronephrosis, Hypospadias, Renal insufficiency, Progressive microcephaly OMIM:611209
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Increased circulating renin level, Hypokalemia, Hypochloremia, Hypomagnesemia ORPHA:89938
Igg4-Related Kidney Disease
Hematuria, Acute kidney injury, Pericarditis, Interstitial pneumonitis, Urinary bladder inflammat... ORPHA:449395
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Hypospadias, Renal insufficiency, Nephroblastoma, Nephropathy OMIM:194072
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Renal insufficiency ORPHA:2123
Drug Rash With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Interstitial pneumonitis, Thyroiditis, Erythroderma, Nephrotic syndrome, Tubu... ORPHA:139402
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Unilateral renal agenesis, Abnormality of medullary p... ORPHA:2260
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Low-molecular-weight proteinuria, Proximal tubulopathy, Hypercalciuria, ... OMIM:300554
Wolcott-Rallison Syndrome
Hyperammonemia, Hyperbilirubinemia, Hyponatremia, Hypoalbuminemia ORPHA:1667
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Depression, Pancreatitis, Parathormone-independent increased renal tubular calcium... OMIM:600740
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Renal tubular dysfunction, Pancreatitis ORPHA:289916
Lamellar Ichthyosis
Cognitive impairment, Renal insufficiency, Chronic otitis media, Erythroderma ORPHA:313
Infant Botulism
Hyponatremia ORPHA:178478
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Glomerulonephritis, Stage 5 chronic kidney disease, Chronic tubulointerstitial ... OMIM:614376
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Chronic kidney disease, Proteinuria OMIM:123550
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Phosphoribosylpyrophosphate Synthetase Superactivity
Uric acid nephrolithiasis, Renal insufficiency, Gout, Hyperuricosuria OMIM:300661
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
Xanthinuria, Type I
Pyelonephritis, Xanthinuria, Hydronephrosis, Xanthine nephrolithiasis OMIM:278300
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Malar rash, Nephritis, Arthritis OMIM:152700
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Recurrent urinary tract infections, Polyuria, R... OMIM:248250
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Paragangliomas 3
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Pulsatile tinnitus, Elevated circulating... OMIM:605373
Ebola Hemorrhagic Fever
Skin rash, Renal insufficiency, Proteinuria ORPHA:319218
Pseudo-Torch Syndrome 1
Pachygyria, Polymicrogyria, Cerebral calcification, Renal insufficiency, Microcephaly, Lissencephaly OMIM:251290
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Decreas... ORPHA:2442
Medullary Thyroid Carcinoma
Nodular goiter, Pheochromocytoma, Primary hyperparathyroidism, Abnormal liver parenchyma morpholo... ORPHA:1332
Necrotizing Enterocolitis
Hyponatremia ORPHA:391673
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Increased circulating chylomicron concentration, Splenomegaly, Lactescent s... OMIM:238600
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Hypocalciuria OMIM:154020
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Pachygyria, Agenesis of corpus callosum, Cystic renal dysplasia, Renal tubular e... ORPHA:157
Microscopic Polyangiitis
Peritonitis, Skin rash, Hematuria, Pericarditis, Increased inflammatory response, Uveitis, Glomer... ORPHA:727
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Absence of renal corticomedullary differentiation, Stage 5 chr... OMIM:602088
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Renal ins... ORPHA:1475
Distal 16P11.2 Microdeletion Syndrome
Vesicoureteral reflux, Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Protein... ORPHA:261222
Transcobalamin Deficiency
Methylmalonic aciduria, Acute kidney injury ORPHA:859
Methylcobalamin Deficiency Type Cble
Neutropenia, Pancytopenia, Hypomethioninemia, Increased mean corpuscular volume, Hyperhomocystine... ORPHA:2169
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hematuria, Acute kidney injury, Renovascular hypertension, ... ORPHA:49041
Familial Isolated Hyperparathyroidism
Hypercalciuria, Renal insufficiency, Nephrocalcinosis, Hyperphosphaturia ORPHA:99879
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79473
Legionnaires Disease
Hyponatremia ORPHA:549
Mirage Syndrome
Hyperkalemia, Hyponatremia OMIM:617053
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Kleefstra Syndrome
Self-mutilation, Aggressive behavior, Self-injurious behavior, Chronic otitis media, Microcephaly... ORPHA:261494
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Pustule, Acute kidney injury, Superficial dermal perivascular inflammatory infiltrate, Chronic ki... ORPHA:284426
Bartter Syndrome, Type 2, Antenatal
Increased circulating renin level, Increased serum prostaglandin E2, Hypokalemia, Hypochloremia, ... OMIM:241200
Cryoglobulinemic Vasculitis
Hematuria, Proteinuria, Viral hepatitis, Glomerulopathy, Keratoconjunctivitis sicca, Renal insuff... ORPHA:91138
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:90791
Atresia Of Urethra
Megacystis, Hydroureter, Recurrent urinary tract infections, Renal dysplasia, Vesicoureteral refl... ORPHA:105
Hypocomplementemic Urticarial Vasculitis
Skin rash, Hematuria, Proteinuria, Uveitis, Glomerulopathy, Conjunctivitis, Episcleritis, Renal i... ORPHA:36412
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Renal dysplasia, Nephritis, Pyelonephritis, Unilateral renal atrophy OMIM:314300
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia ORPHA:361
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Renal corticomedullary cysts, Hydrocephalus OMIM:219730
Pseudo-Torch Syndrome 3
Acute kidney injury, Lymphadenitis, Abnormal cerebral white matter morphology, Cerebral calcifica... OMIM:618886
Joubert Syndrome With Renal Defect
Hydrocephalus, Nephropathy, Polymicrogyria, Renal insufficiency, Agenesis of corpus callosum ORPHA:220497
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency ORPHA:3222
Whipple Disease
Hyponatremia ORPHA:3452
Tuberous Sclerosis Complex
Aggressive behavior, Depression, Self-injurious behavior, Renal angiomyolipoma, Impulsivity, Chro... ORPHA:805
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia OMIM:173900
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Renal calcium wasting, Recurrent urinary tract infections, Hypercalciuria, Hypermagnesiuria, Chro... OMIM:248190
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Basal ganglia cysts, Enlarged kidney, Intracerebral periventricular calcifications, Polymicrogyri... OMIM:608836
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Mild proteinuria, Stage 5 chronic kidney disease OMIM:614377
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Polyuria, Enuresis, Renal insufficiency, Nephrocalcinosis OMIM:204690
Scleroderma
Myelitis, Acute kidney injury, Pericarditis, Depression, Cerebral atrophy, Uveitis, Keratitis, Ch... ORPHA:801
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Renal dysplasia, Hypoplasia of penis, Renal insufficiency, Microcephaly ORPHA:85321
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Methylmalonic aciduria, Stage 5 chronic kidney disease, Pancreatiti... OMIM:251000
Hsd10 Disease
Abnormal social behavior, Hearing impairment ORPHA:391417
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Vesicouret... ORPHA:107
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst OMIM:613390
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Dark urine, Chronic kidney disease, Recurrent myoglobinuria, Exercise-induce... ORPHA:368