Gene Summary

Name:
two pore channel 1
Synonyms:
5730403B01Rik

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 mean corpuscular hemoglobin Tpcn1tm1.1(KOMP)Vlcg HOM Early adult 1.52×10-11
decreased urine magnesium level Tpcn1tm1.1(KOMP)Vlcg HOM Early adult 5.94×10-11
decreased mean corpuscular volume Tpcn1tm1.1(KOMP)Vlcg HOM Early adult 4.25×10-07
abnormal behavior Tpcn1Gt(XG716)Byg HOM Early adult 1.95×10-05
increased urine microalbumin level Tpcn1tm1.1(KOMP)Vlcg HOM   Early adult 3.54×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

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

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (1 of 1)
Brain N/A homozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 1)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (1 of 1)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote Ambiguous
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (1 of 1)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (1 of 1)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (1 of 1)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 100% (1 of 1)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 1)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 1)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 1)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (1 of 1)
Skin N/A homozygote Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 1)
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 585)
aorta 0.17% (1 of 585)
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
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 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Adult LacZ

LacZ Images Section

45 Images

Eye Morphology

Images Ophthalmoscopy

14 Images

Sleep Wake

Wake state (bmp file)

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Eye Morphology

Images Slit Lamp

4 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Embryo LacZ

LacZ images wholemount

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Forepaw

11 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Tpcn1 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 Tpcn1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Nephrotic Syndrome, Type 7
Hemolytic anemia, Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, ... OMIM:615008
Lipoprotein Glomerulopathy
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Imerslund-Grasbeck Syndrome 2
Proteinuria, Megaloblastic anemia OMIM:618882
Nephrotic Syndrome, Type 16
Hematuria, Proteinuria, Nephrotic syndrome OMIM:617783
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Hyperprolinemia Type 1
Prolinuria, Proteinuria, Nephropathy ORPHA:419
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Thrombocytopenia, Proteinuria ORPHA:2134
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... OMIM:618177
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:301028
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Nephropat... OMIM:137950
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:618176
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu... OMIM:616818
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Renal potassium wasting, Renal magnesium wasting, Nephrocalcinosis ORPHA:564178
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency ORPHA:2613
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... OMIM:619201
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Recurrent urinary tract infections, Chr... OMIM:248190
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Normochromic anemia, Proteinuria, Renal insufficiency OMIM:245900
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:613944
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k... OMIM:603965
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Hemoglobinuria OMIM:266120
Galactosemia I
Aminoaciduria, Increased level of galactitol in urine, Albuminuria, Galactosuria, Hemolytic anemia OMIM:230400
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, Ne... OMIM:617006
Hypomagnesemia 3, Renal
Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolithiasis, Hypo... OMIM:248250
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Proteinuria, Anemia, Stage 5 chronic kidney disease OMIM:603278
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Renal insufficiency OMIM:161900
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ... OMIM:601894
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria OMIM:189800
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency OMIM:607832
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolit... ORPHA:405
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617609
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal potassium wasting, Polyuria, Renal magnesium wasting OMIM:618314
Imerslund-Grasbeck Syndrome 1
Proteinuria, Megaloblastic anemia OMIM:261100
Hypomagnesemia 2, Renal
Hypocalciuria, Renal insufficiency, Renal magnesium wasting OMIM:154020
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Chronic... OMIM:614131
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Proteinuria, Renal insufficiency, Anemia ORPHA:2668
Distal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Decreased glomerular fi... ORPHA:18
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... OMIM:616689
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:615573
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anuria, Hematuria, Hemolytic-uremic syndrome, Anemia, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anuria, Hematuria, Hemolytic-uremic syndrome, Anemia, Acute ki... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anuria, Hematuria, Hemolytic-uremic syndrome, Anemia, Acute ki... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anuria, Hematuria, Hemolytic-uremic syndrome, Anemia, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anuria, Hematuria, Hemolytic-uremic syndrome, Anemia, Acute ki... OMIM:612926
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:161950
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Spastic Paraplegia-Nephritis-Deafness Syndrome
Proteinuria, Nephropathy ORPHA:2820
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Acute kidney injury, Mic... ORPHA:54370
Fechtner syndrome
Neutrophil inclusion bodies, Hematuria, Nephritis, Leukocyte inclusion bodies, Stage 5 chronic ki... OMIM:153640
Idiopathic Hypercalciuria
Hypercalciuria, Renal calcium wasting, Calcium oxalate nephrolithiasis ORPHA:2197
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephropathy, Glomerulopathy, Thrombocytop... OMIM:254900
East Syndrome
Renal salt wasting, Renal sodium wasting, Abnormal urinary electrolyte concentration, Enuresis, R... ORPHA:199343
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:600995
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Renal tubular dysfunction, Glycosuria, Abnormality of the upper urinary tra... ORPHA:99885
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypermagnesiuria ORPHA:34527
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Splenomegaly, Nephropathy, Proteinuria OMIM:105200
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Reticulocytosis, Thrombocytope... ORPHA:54057
Autosomal Dominant Polycystic Kidney Disease
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... ORPHA:730
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio, Nephritis, Stage 5 chronic kidney disease OMIM:609057
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Glomerulopat... ORPHA:84090
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome OMIM:614650
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse m... OMIM:610725
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Stage 5 chronic kidney disease, Glycos... OMIM:614817
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor... OMIM:611555
Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia, Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting OMIM:241519
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Tubulointerstitial fibrosis, Proteinuria, Nephrotic syndrome OMIM:614196
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Aminoaciduria, Proteinuria, Glycosuria OMIM:615605
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Anemia, Splenomegaly, Microscopic hematuria, Microcytic anemia, Membranopro... OMIM:619525
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis OMIM:619269
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Nephritis, Giant platelets, Congenit... ORPHA:182050
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Hemoglobinuria, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Ani... OMIM:300908
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne... OMIM:613496
Lcat Deficiency
Hemolytic anemia, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Acute kid... ORPHA:650
Paroxysmal Cold Hemoglobinuria
Coombs-positive hemolytic anemia, Hemoglobinuria, Abnormal urinary color, Autoimmune hemolytic an... ORPHA:90035
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria, Lymphocytosis ORPHA:79087
Hypercalcemia, Infantile, 2
Nephrocalcinosis, Renal phosphate wasting, Medullary nephrocalcinosis, Hypercalciuria, Polyuria OMIM:616963
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Abnormal renal tubule morphology, Nephrotic syndrome ORPHA:839
Denys-Drash Syndrome
Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome ORPHA:220
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Acute kidney injury, Microscopic he... ORPHA:567544
Mu-Heavy Chain Disease
Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly, Nephropathy ORPHA:100024
Anti-Glomerular Basement Membrane Disease
Hematuria, Anemia, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:375
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:608709
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... ORPHA:976
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Chronic kidney disease, Anemia, Proteinuria, Hyperechogenic kidneys, Renal salt wasti... OMIM:613845
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hyperphosphaturia, Hypercalciuria, Renal phosphate wasting, Nephrolithiasis OMIM:612286
Glycogen Storage Disease Vii
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Reticulocytosis, Exer... OMIM:232800
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Protein... OMIM:618349
Tubular Renal Disease-Cardiomyopathy Syndrome
Nephrocalcinosis, Abnormal renal resorption, Hyperprostaglandinuria, Hypermagnesiuria, Hypercalci... ORPHA:73224
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Chronic kidney disease,... OMIM:300555
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stage 5 chronic kidne... OMIM:619155
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Thin glomerular basement membrane, Chronic kidney disease, Diffuse mesangial ... OMIM:615244
Al Amyloidosis
Nephrotic syndrome, Anemia, Renal interstitial amyloid deposits, Albuminuria, Howell-Jolly bodies... ORPHA:85443
Glycogen Storage Disease V
Myoglobinuria, Dark urine OMIM:232600
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Decreased hemoglobin concentration, Reticulocytosis, Hemolytic anemia, Renal insuf... ORPHA:713
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:615399
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Anemia, Proteinuria, Nephrotic syndrome, Nephropathy ORPHA:1192
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Mucopolysacchariduria, Proteinuria, Nephrotic syndrome OMIM:215250
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:612300
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Moderate albuminuria, Abnormal penis morphology, Neutropenia, Hematuria, Dysuria, Anemia, Acute k... ORPHA:95455
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Hypercalciuria, Renal insufficiency OMIM:613388
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Micropenis, Methemoglobinemia OMIM:250790
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Preeclampsia
Acute kidney injury, Chronic kidney disease, Thrombocytopenia, Proteinuria, Abnormality of the ki... ORPHA:275555
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... OMIM:174000
Gitelman Syndrome
Hypocalciuria, Renal potassium wasting, Enuresis, Polyuria, Nocturia, Renal magnesium wasting OMIM:263800
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Homocystinuria, Megaloblastic anemia, Increased mean corpuscular volume, Methylmalonic aciduria OMIM:277410
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... ORPHA:98870
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria, Increased red cell hemolysis by shear stress, Splenomegaly, Exercise-induced hemo... OMIM:194380
Autosomal Dominant Hypocalcemia
Hypermagnesiuria, Hypercalciuria, Nephrocalcinosis ORPHA:428
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hyperphosphaturia, Renal phosphate wasting, Nephrolithiasis OMIM:612287
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Lacticaciduria, Glycosuria, Aminoaciduria, Proteinuria, Renal insuffic... OMIM:134600
C3 Glomerulopathy
Nephrotic syndrome, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellularity, Acute ... ORPHA:329918
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:136680
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Microangiopathic hemolytic anemia, Abnormal renal physiology, Hemolytic-uremic sy... OMIM:274150
Heme Oxygenase 1 Deficiency
Thrombocytosis, Asplenia, Coombs-positive hemolytic anemia, Hematuria, Nephritis, Proteinuria, He... OMIM:614034
Hereditary Renal Hypouricemia
Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, Decreased glome... ORPHA:94088
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... ORPHA:93101
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Macroscopic hematuria, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Sta... ORPHA:567546
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Abnormal renal physiology, Hematuria, Proteinuria OMIM:123550
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Nephrocalcinosis, Glycosuria, Aminoaciduria, Proteinuria OMIM:616026
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chron... OMIM:203780
Dent Disease 1
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Glycos... OMIM:300009
Hypokalemic Tubulopathy And Deafness
Renal salt wasting OMIM:619406
Glycogen Storage Disease, Type Ixd
Exercise-induced myoglobinuria OMIM:300559
Anemia, Congenital Dyserythropoietic, Type Iiia
Macrocytic anemia, Hemosiderinuria, Congenital hypoplastic anemia, Anemia of inadequate production OMIM:105600
Adrenocortical Hypofunction, Chronic Primary Congenital
Hypernatriuria OMIM:103230
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria OMIM:242050
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia ORPHA:848
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Renal insufficiency, Nephropathy OMIM:166300
Igg4-Related Kidney Disease
Ureteral obstruction, Hydronephrosis, Urinary bladder inflammation, Tubulointerstitial nephritis,... ORPHA:449395
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Pseudo-Torch Syndrome 3
Leukocytosis, Anemia, Acute kidney injury, Congenital thrombocytopenia, Proteinuria OMIM:618886
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Stage 5 chron... ORPHA:656
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:225
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Familial Mediterranean Fever, Autosomal Dominant
Proteinuria, Renal insufficiency, Renal amyloidosis OMIM:134610
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Proteinuria OMIM:618913
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Bartter Syndrome, Type 3
Renal salt wasting, Increased urinary potassium, Hypocalciuria, Renal potassium wasting, Hyperchl... OMIM:607364
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular fil... ORPHA:85450
Galloway-Mowat Syndrome 5
Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Nephrocalcinosis OMIM:239199
Cednik Syndrome
Proteinuria, Nephrotic syndrome ORPHA:66631
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Macrothrombocytopenia, Thrombocytopenia, Aminoaciduria, Proteinuria OMIM:603585
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting OMIM:201910
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Hydronephrosis, Albuminuria, Renal cortical microcysts, Aminoaciduria OMIM:214100
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Anemia, Glycosuria, Aminoac... OMIM:220110
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidn... OMIM:301006
Wilson Disease
Hemolytic anemia, Hyperphosphaturia, Renal tubular dysfunction, Aminoaciduria, Nephrolithiasis, G... OMIM:277900
Alport Syndrome 1, X-Linked
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephritis, Stage 5 chronic kidney d... OMIM:301050
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting OMIM:613743
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Anemia, Glycosuria, Aminoac... ORPHA:436271
Systemic Sclerosis
Acute kidney injury, Albuminuria, Chronic kidney disease, Glomerulonephritis, Proteinuria, Renal ... ORPHA:90291
Nephronophthisis 13
Renal hypoplasia, Mild proteinuria, Nephronophthisis, Stage 5 chronic kidney disease OMIM:614377
Aa Amyloidosis
Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Proteinuria, Abnorm... ORPHA:85445
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Neutropenia, Pancytopenia, Increased mean corpuscular volume, Hemolytic-uremic... ORPHA:2169
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Acute kidney injury, Myoglobinuria ORPHA:57
Neuraminidase Deficiency
Vacuolated lymphocytes, Bone-marrow foam cells, Urinary excretion of sialylated oligosaccharides,... OMIM:256550
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular acidosis, Incr... ORPHA:3337
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Increased urinary potassium, Decreased glomerular filtration rate, Renal insufficiency, Hyperchlo... OMIM:613090
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Abnormal glom... ORPHA:567548
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Diffuse mesangial scler... OMIM:617730
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... OMIM:616730
Alagille Syndrome 2
Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Proteinuria, Renal insufficiency OMIM:610205
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Micropeni... OMIM:617575
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria, Sideroblastic anemia OMIM:255125
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Increased urinary potassium, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, R... OMIM:602522
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Hematuria, Nephri... OMIM:104200
Diffuse Alveolar Hemorrhage
Leukocytosis, Hematuria, Anemia, Thrombocytopenia, Proteinuria ORPHA:90060
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic syndrome, ... OMIM:242900
Senior-Boichis Syndrome
Renal hypoplasia, Abnormal renal insterstitial morphology, Thickening of the tubular basement mem... ORPHA:84081
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Distal renal tubular acidosis, Nephrocalcinosis OMIM:602722
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Hypophosphatemic Rickets, X-Linked Recessive
Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Renal phosphate wasting, Low-molecular-w... OMIM:300554
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hyperphosphaturia ORPHA:89937
Diamond-Blackfan Anemia 7
Horseshoe kidney, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Vesicoureter... OMIM:612562
Coenzyme Q10 Deficiency, Primary, 1
Nephrotic syndrome, Glomerular sclerosis, Anemia, Pancytopenia, Recurrent myoglobinuria OMIM:607426
Galloway-Mowat Syndrome 6
Proteinuria, Nephrotic syndrome OMIM:618347
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Stage 5 chronic kidney disease, Ren... ORPHA:228302
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal insufficiency, Glomerulopathy, Prot... ORPHA:347
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting OMIM:614736
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Renal Fanconi syndrome, Hemoglobinuria, Pancytopenia, Leukopenia, Erythroid hyp... ORPHA:447
Ohdo Syndrome
Proteinuria OMIM:249620
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Vesicoureteral reflux, Chronic kidney disease, Proteinuria, Abnormality of the ki... ORPHA:261222
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Cystathioninuria, Methylmalonic aciduria, Hematuria, Homocystinuria, Hemolytic-uremi... OMIM:277400
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Microscopic hematuria, Glomerulopathy, Proteinuria, Renal insufficiency, Elliptocytosis ORPHA:86818
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Diffuse mesangial scl... OMIM:256300
Majeed Syndrome
Leukocytosis, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Splenomegaly, Microsc... ORPHA:77297
Pediatric Systemic Lupus Erythematosus
Nephrotic syndrome, Microangiopathic hemolytic anemia, Abnormality of the urinary system, Leukope... ORPHA:93552
Beta-Thalassemia Intermedia
Leukocytosis, Erythroid hyperplasia, Proximal tubulopathy, Splenomegaly, Persistence of hemoglobi... ORPHA:231222
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Aminoaciduria, Anemia, Splenomegaly, Hypercalciuria, Polyuria OMIM:239200
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Renal salt wasting, Renal sodium wasting, Hypocalciuria, Renal potassium wasting, Enuresis, Polyuria OMIM:612780
Leiomyomatosis, Diffuse, With Alport Syndrome
Glomerular basement membrane lamellation, Abnormal renal physiology, Hematuria, Stage 5 chronic k... OMIM:308940
Xfe Progeroid Syndrome
Proteinuria, Renal insufficiency OMIM:610965
Cranioectodermal Dysplasia 1
Chronic kidney disease, Tubulointerstitial nephritis, Renal magnesium wasting OMIM:218330
Hypercalcemia, Infantile, 1
Hypercalciuria, Polyuria, Nephrolithiasis, Nephrocalcinosis OMIM:143880
Familial Isolated Hyperparathyroidism
Hyperphosphaturia, Hypercalciuria, Renal insufficiency, Nephrocalcinosis ORPHA:99879
Fabry Disease
Lipiduria, Urinary mulberry cells, Anemia, Proteinuria, Renal insufficiency OMIM:301500
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Proteinuria, Renal artery stenosis, Nephropathy OMIM:209010
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Micropenis, Hypercalciuria OMIM:614732
Juvenile Nephropathic Cystinosis
Renal Fanconi syndrome, Proximal tubulopathy, Stage 5 chronic kidney disease, Glycosuria, Renal p... ORPHA:411634
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Proteinuria, Nephropathy ORPHA:1765
Blackfan-Diamond Anemia
Hypospadias, Horseshoe kidney, Thrombocytosis, Renal agenesis, Neutropenia, Elevated red cell ade... ORPHA:124
Hypocalciuric Hypercalcemia, Familial, Type I
Hypocalciuria, Hypercalciuria, Nephrolithiasis OMIM:145980
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, HbH hemoglobin, Microcytic anemia ORPHA:98791
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Abnormality of the kidney ORPHA:369
Hellp Syndrome
Hemoglobinuria, Microangiopathic hemolytic anemia, Acute kidney injury, Proteinuria, Thrombocytop... ORPHA:244242
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria OMIM:300539
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrotic syndrome, Nephrocalcinosis, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Pro... OMIM:146255
Becker Muscular Dystrophy
Myoglobinuria, Abnormal urinary color ORPHA:98895
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Exercise-induced myoglobinuria, Dark urine, Acute kidney injury, Chronic kidney disease, Recurren... ORPHA:368
Corticosterone Methyloxidase Type Ii Deficiency
Renal salt wasting OMIM:610600
Galloway-Mowat Syndrome 7
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... OMIM:618348
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Nephrocalcinosis, Anemia, Phosphoethanolaminuria, Hypercalciuria OMIM:241500
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Focal segmental glomerulosclerosis, Neutropenia, Minim... ORPHA:1830
Gaucher Disease Type 1
Leukopenia, Hematuria, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia, Prote... ORPHA:77259
Alport Syndrome
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... ORPHA:63
Renal Nutcracker Syndrome
Hematuria, Anemia, Microscopic hematuria, Proteinuria, Renal artery stenosis ORPHA:71273
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, N... ORPHA:47159
Corticosterone Methyloxidase Type I Deficiency
Renal salt wasting OMIM:203400
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Prote... ORPHA:251004
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypospadias, Hypochromic microcytic anemia, Anemia, Mild proteinuria, Renal insufficiency OMIM:619147
Cryoglobulinemic Vasculitis
Hematuria, Splenomegaly, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:91138
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting OMIM:193100
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Abnormality of me... ORPHA:2260
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Renal cyst, Nephrolithiasis, Stage 5 chron... OMIM:120330
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic syndrome, Leuko... OMIM:617303
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Renal salt wasting OMIM:264350
Free Sialic Acid Storage Disease
Proteinuria, Nephrotic syndrome, Splenomegaly ORPHA:834
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Elevated urinary norepinephrine OMIM:171420
Cystinosis
Renal tubular dysfunction, Nephropathy, Aminoaciduria, Proteinuria, Renal insufficiency ORPHA:213
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Proteinuria, Nephropathy ORPHA:2774
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Nephrolithiasis, Nephrocalcinosis, Hypercalciuria OMIM:601198
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Chronic tubulointerstitial nephritis, Stage 5 chronic kidney disease, Glomerulo... OMIM:614376
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... OMIM:145981
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Glomerular sclerosis, Stage 5 chronic kidney disease, Anemia, Recurrent urinary... OMIM:619487
Renal Hypodysplasia/Aplasia 1
Renal dysplasia, Renal agenesis, Proteinuria OMIM:191830
Fanconi-Bickel Syndrome
Hyperphosphaturia, Generalized aminoaciduria, Nephrocalcinosis, Renal tubular acidosis, Glycosuri... ORPHA:2088
Fanconi-Bickel Syndrome
Hyperphosphaturia, Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria OMIM:227810
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Glomer... ORPHA:93126
Wild Type Attr Amyloidosis
Renal insufficiency, Proteinuria, Nephrotic syndrome, Nephropathy ORPHA:330001
Familial Hypoaldosteronism
Renal salt wasting, Decreased urinary potassium, Proximal renal tubular acidosis ORPHA:427
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria ORPHA:157215
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Proteinuria ORPHA:69126
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria, Aminoaciduria, Proteinuria OMIM:210550
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... ORPHA:811
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Proteinuria OMIM:619428
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypercalciuria ORPHA:2239
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Apparent Mineralocorticoid Excess
Abnormal urine sodium concentration, Renal insufficiency, Nephrocalcinosis ORPHA:320
Renal Agenesis
Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Ureteral agenesis, U... ORPHA:411709
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Micropenis, HbH h... OMIM:141750
Beta-Thalassemia Major
Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hy... ORPHA:231214
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hypersplenism, Hepatosp... ORPHA:231226
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary epinephrine, Hematuria, Glomerular sclerosis, Elevated urinary norepinephrine, E... ORPHA:276621
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Shwachman-Diamond Syndrome 1
Neutropenia, Nephrocalcinosis, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancy... OMIM:260400
Hypocomplementemic Urticarial Vasculitis
Hematuria, Splenomegaly, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:36412
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... ORPHA:255249
Bartter Syndrome, Type 1, Antenatal
Nephrocalcinosis, Increased urinary potassium, Hyperprostaglandinuria, Hyperchloriduria, Renal po... OMIM:601678
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Pure red cell aplasia, Glomerulonephritis, Aplastic an... ORPHA:99867
Enamel-Renal Syndrome
Nephrocalcinosis, Hypophosphaturia, Hypocalciuria, Impaired renal concentrating ability, Nephropa... ORPHA:1031
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Polyuria, Hypercalciuria OMIM:300971
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Calcium nephrolithiasis, Hypercalciuria, Renal tubular dysfunction OMIM:241530
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Normochromic anemia, Glomerular sclerosis, Nephropathy, Proteinuria ORPHA:247691
Legionnaires Disease
Hematuria, Splenomegaly, Lymphopenia, Proteinuria, Renal insufficiency ORPHA:549
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Genetic Recurrent Myoglobinuria
Exercise-induced myoglobinuria, Dark urine, Acute kidney injury, Oliguria, Renal insufficiency, R... ORPHA:99845
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Late-Onset Familial Hypoaldosteronism
Renal sodium wasting ORPHA:556037
Osteootohepatoenteric Syndrome
Grade II vesicoureteral reflux, Proteinuria, Anemia OMIM:619377
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Hemoglobinuria, Schistocytosis, Microangiopathic hemolytic anemia, Anuria, Acute ki... ORPHA:90038
16Q24.3 Microdeletion Syndrome
Thrombocytopenia, Increased mean corpuscular volume ORPHA:261250
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Polyuria OMIM:613677
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Proteinuria, Renal insufficiency ORPHA:1307
Hyperinsulinism Due To Hnf4A Deficiency
Renal Fanconi syndrome, Proteinuria, Glycosuria ORPHA:263455
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Nephrotic syndrome, Nephritis, Mesangial hypercellularity, Microscopi... ORPHA:91139
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypospadias, Reduced alpha/beta synthesis ratio, Renal agenesis, Hydronephrosis, Hypochromic micr... OMIM:301040
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Spondyloenchondrodysplasia
Pancytopenia, Hematuria, Autoimmune thrombocytopenia, Chronic kidney disease, Proteinuria, Autoim... ORPHA:1855
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heavy proteinuria, Nephrotic syndrome, Leukopenia, Anemia, Hepatosplenomegaly, Urinary glycosamin... ORPHA:505248
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate, Chronic k... ORPHA:488627
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hydronephrosis, Abnormal hemoglobin, Anemia, Recurrent urinary tract infections, Hypoplasia of pe... ORPHA:847
Early-Onset Familial Hypoaldosteronism
Renal sodium wasting ORPHA:556030
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Gaucher Disease Type 3
Hematuria, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Proteinuria ORPHA:77261
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Neutropenia, Decreased glomerular filtration rate, Nephrolith... OMIM:232220
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple small medullary renal cysts, Parathormone-independent increased renal tubular calcium re... OMIM:600740
Martin-Probst Syndrome
Chordee, Micropenis, Pancytopenia, Proteinuria, Renal insufficiency OMIM:300519
Bartter Syndrome, Type 2, Antenatal
Nephrocalcinosis, Increased urinary potassium, Hyperprostaglandinuria, Hyperchloriduria, Renal po... OMIM:241200
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Renal tubular dysfunction, Tubuloint... ORPHA:330015
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Glomerular sclerosis, Renal interstitial amyloid deposits, Chr... ORPHA:439232
Lymphedema-Distichiasis Syndrome
Tubulointerstitial nephritis, Renal duplication, Recurrent urinary tract infections, Glomerulopat... ORPHA:33001
Lysosomal Acid Lipase Deficiency
Vacuolated lymphocytes, Bone-marrow foam cells, Anemia, Hepatosplenomegaly, Hypersplenism, Abnorm... ORPHA:275761
Primary Hyperoxaluria
Nephrocalcinosis, Hyperoxaluria, Calcium oxalate nephrolithiasis, Hematuria, Aciduria, Stage 5 ch... ORPHA:416
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary epinephrine, Renal cell carcinoma, Hematuria, Glomerular sclerosis, Elevated uri... ORPHA:29072
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Abnormal tubulointerstitial... ORPHA:411629
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:609049
Infantile Bartter Syndrome With Sensorineural Deafness
Nephrocalcinosis, Increased urinary potassium, Chronic kidney disease, Hyperprostaglandinuria, St... ORPHA:89938
Eosinophilic Granulomatosis With Polyangiitis
Tubulointerstitial nephritis, Hematuria, Glomerulopathy, Eosinophilia, Proteinuria, Renal insuffi... ORPHA:183
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Nephrotic syndrome, Proximal tubulopathy, Renal cyst, Proteinuria OMIM:212065
Adrenal Hypoplasia, Congenital
Renal salt wasting OMIM:300200
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2715
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Acute Adrenal Insufficiency
Renal salt wasting, Normocytic anemia, Renal insufficiency, Decreased urinary potassium ORPHA:95409
Renal Cysts And Diabetes Syndrome
Hypospadias, Renal hypoplasia, Renal cyst, Nephrolithiasis, Glycosuria, Stage 5 chronic kidney di... OMIM:137920
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Decreased urine output, Tubulointerstitial nephritis, Anuria, Decreased glomerular ... ORPHA:340
Gaisböck Syndrome
Nephrocalcinosis, Increased red blood cell count, Increased mean corpuscular hemoglobin concentra... ORPHA:90041
Oculoskeletodental Syndrome
Hypercalciuria, Renal agenesis, Mucopolysacchariduria, Splenomegaly OMIM:618440
Malakoplakia
Urinary bladder inflammation, Urinary urgency, Urinary hesitancy, Hematuria, Dysuria, Proteinuria ORPHA:556
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Renal tubular dysfunction OMIM:307800
Helix Syndrome
Hypocalciuria, Polyuria, Renal insufficiency, Nephrolithiasis OMIM:617671
Galloway-Mowat Syndrome
Proteinuria, Nephrotic syndrome, Nephropathy ORPHA:2065
Lysinuric Protein Intolerance
Oroticaciduria, Tubulointerstitial nephritis, Leukopenia, Ornithinuria, Decreased glomerular filt... ORPHA:470
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Myoglobinuria, Renal tubular acidosis, Anemia, Splenomegaly, Abnormal erythrocyte enzyme level ORPHA:264580
Familial Glucocorticoid Deficiency
Renal salt wasting, Recurrent urinary tract infections, Hypernatriuria ORPHA:361
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Renal tubular acidosis, Myoglobinuria, Anemia, Splenomegaly ORPHA:79240
Pheochromocytoma
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine OMIM:171300
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Red-brown urine, Myoglobinuria ORPHA:228305
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Multiple bladder diverticula ORPHA:2728
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypercalciuria, Ureteral stenosis, Renal cyst, Nephrocalcinosis OMIM:615398
Familial Hyperaldosteronism Type Iii
Hypercalciuria ORPHA:251274
Oncogenic Osteomalacia
Hyperphosphaturia, Renal phosphate wasting ORPHA:352540
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Renal tubular acidosis, Myoglobinuria, Abnormal erythrocyte enzyme level, Splenomegaly ORPHA:370
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting OMIM:612089
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Stage 5 chr... ORPHA:157
Primary Unilateral Adrenal Hyperplasia
Increased urinary potassium ORPHA:231580
Metaphyseal Chondrodysplasia, Jansen Type
Hyperphosphaturia, Hypercalciuria, Nephrocalcinosis OMIM:156400
Lymphatic Filariasis
Nephrotic syndrome, Hematuria, Urethral obstruction, Hypereosinophilia, Glomerulonephritis, Prote... ORPHA:2035
Cockayne Syndrome Type 1
Anemia, Proteinuria, Renal insufficiency ORPHA:90321
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232200
Neuroleptic Malignant Syndrome
Leukocytosis, Thrombocytosis, Myoglobinuria, Acute kidney injury, Urinary incontinence, Thrombocy... ORPHA:94093
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Renal salt wasting, Long penis, Increased urinary 11-deoxycorticosterone level ORPHA:90795
Galloway-Mowat Syndrome 3