Gene Summary

Name:
NIMA (never in mitosis gene a)-related expressed kinase 7
Synonyms:
2810460C19Rik

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
preweaning lethality, complete penetrance Nek7tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased urine microalbumin level Nek7tm1b(EUCOMM)Hmgu HET Early adult 8.33×10-09

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Viewing: all phenotypes

lacZ Expression

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

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

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 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 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 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 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

44 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

12 Images

Sleep Wake

Wake state (bmp file)

10 Images

MicroCT E18.5

Embryo reconstruction

8 Images

Eye Morphology

Images Ophthalmoscopy

4 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Morphology Embryo E14.5-E15.5

Images

3 Images

Eye Morphology

Images Slit Lamp

1 Images

Gross Morphology Embryo E12.5

Images

2 Images

Auditory Brain Stem Response

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

8 Images

Electroretinography 2

Rod and cone PDF

4 Images

Human diseases caused by Nek7 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 Nek7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Uridine-Cytidineuria
Elevated urinary uridine level, Elevated urinary cytidine OMIM:618477
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... OMIM:620536
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Hematuria, Benign Familial, 2
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria OMIM:620320
Imerslund-Grasbeck Syndrome 2
Proteinuria, Moderate albuminuria, Renal insufficiency, Recurrent urinary tract infections OMIM:618882
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... OMIM:613237
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Nail-Patella-Like Renal Disease
Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria ORPHA:2613
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... OMIM:617609
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria OMIM:161900
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... OMIM:614131
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Indolylacroyl Glycinuria With Impaired Intellectual Development
Hyperglycinuria OMIM:243050
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:615573
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:242600
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria ORPHA:42062
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:161950
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:600995
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Decreased circulating IgG level, Cutaneous abscess, Recurrent otitis media, In... OMIM:618944
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Abnormality of chromosome stability OMIM:600546
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology ORPHA:839
Fanconi Anemia, Complementation Group O
Chromosome breakage, Death in infancy, Neonatal death, Short stature, Miscarriage OMIM:613390
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... OMIM:610725
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614196
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr... ORPHA:84090
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Insulin Autoimmune Syndrome
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Weight loss, Ar... ORPHA:411593
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Podocyte foot process effacement OMIM:617006
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Galactosemia I
Aminoaciduria, Galactosuria, Albuminuria, Increased level of galactitol in urine OMIM:230400
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Renal tubular dysfunction, Abnormality of the upper ... ORPHA:99885
Denys-Drash Syndrome
Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma ORPHA:220
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Acute kidney injury ORPHA:2134
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Short stature, Intrauterine growth retardation, Increased susceptibility to spontaneous sister ch... OMIM:618097
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Proteinuria, Hematuria, Nephrotic syndrome OMIM:105200
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria OMIM:619269
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Chromosomal breakage induced by cr... OMIM:609054
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, ... ORPHA:567544
Nijmegen Breakage Syndrome-Like Disorder
Short stature, Chromosomal breakage induced by ionizing radiation, Growth delay OMIM:613078
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Growth delay OMIM:614082
Immunodeficiency 54
Short stature, Chromosome breakage, Intrauterine growth retardation, Postnatal growth retardation OMIM:609981
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... OMIM:614377
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Inflammatory abnormality of the skin, Failure to thrive, Lack of T cell func... ORPHA:277
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Proteinuria, Hematuria, Abnormal renal physiology OMIM:123550
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Failure to thrive, Increase... ORPHA:85410
Lipodystrophy, Partial, Acquired, Susceptibility To
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:608709
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia OMIM:615605
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:136680
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, Proteinuria, Nephr... OMIM:618349
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Renal insufficiency OMIM:245900
Imerslund-Grasbeck Syndrome 1
Proteinuria, Microscopic hematuria OMIM:261100
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc... OMIM:603278
N Syndrome
Abnormality of chromosome stability OMIM:310465
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2668
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Hereditary Renal Hypouricemia
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... ORPHA:94088
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Microscopic hematuria, Membranoproliferative glomerulonephritis OMIM:619525
Nephrotic Syndrome, Type 8
Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Protei... OMIM:615244
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ... ORPHA:329918
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, St... ORPHA:567546
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Acquired Partial Lipodystrophy
Proteinuria, Glomerulopathy, Microscopic hematuria ORPHA:79087
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... OMIM:240500
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Ataxia-Telangiectasia
Short stature, Abnormality of chromosome stability, Delayed puberty ORPHA:100
Fanconi Anemia, Complementation Group D1
Short stature, Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents OMIM:605724
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Hematuria, Renal tubular ep... ORPHA:95455
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Failure to thrive, Recurrent aphthous stomatitis, Autoimmunity, ... ORPHA:275
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Failure to thrive, Eczemato... ORPHA:98813
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis OMIM:618913
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Recurrent otitis media, Autoimmunity, Autoimmune hemolytic anemia, Lymphocytic... OMIM:618495
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis OMIM:620374
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Short stature, Chromosomal breakage induced by crosslinking agents OMIM:619060
Al Amyloidosis
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Abnormality of the kidney,... ORPHA:85443
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch... OMIM:617731
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... ORPHA:656
Radial-Renal Syndrome
Short stature, Chromosome breakage OMIM:179280
Fanconi Anemia, Complementation Group T
Short stature, Chromosomal breakage induced by crosslinking agents OMIM:616435
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hemolytic-ur... OMIM:612925
Familial Mediterranean Fever, Autosomal Dominant
Proteinuria, Renal amyloidosis, Renal insufficiency OMIM:134610
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612924
Immunodeficiency By Defective Expression Of Mhc Class Ii
Failure to thrive, Chronic mucocutaneous candidiasis, Panhypogammaglobulinemia, Lack of T cell fu... ORPHA:572
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Steppage gait OMIM:302802
Alpers-Huttenlocher Syndrome
Spastic paraparesis, Paraparesis, Choreoathetosis, Ataxia ORPHA:726
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating IgG4 level, Autoimmunity, Cytoplasmic anti... ORPHA:449400
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Gait disturbance, Ataxia ORPHA:99014
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:301006
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Symmetric polyarthritis, Synovitis, Arthritis, Rh... ORPHA:85435
Anti-Glomerular Basement Membrane Disease
Proteinuria, Hematuria, Glomerulopathy, Renal insufficiency ORPHA:375
Thrombotic Thrombocytopenic Purpura
Hematuria, Proteinuria, Acute kidney injury, Renal insufficiency ORPHA:54057
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria OMIM:620010
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Nephrotic syndrome, Mucopolysacchariduria OMIM:215250
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612926
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... ORPHA:449395
Cednik Syndrome
Proteinuria, Nephrotic syndrome ORPHA:66631
Bullous Pemphigoid
Eczematoid dermatitis, Anti-BP180 antibody positivity, Autoimmunity, Psoriasiform dermatitis, Wei... ORPHA:703
Fanconi Anemia, Complementation Group S
Short stature, Chromosome breakage OMIM:617883
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... ORPHA:85445
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Hydronephrosis, Albuminuria, Hypospadias, Renal cortical microcysts OMIM:214100
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Systemic Sclerosis
Chronic kidney disease, Acute kidney injury, Renal insufficiency, Proteinuria, Glomerulonephritis... ORPHA:90291
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:158061
Adult Acute Respiratory Distress Syndrome
Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s... ORPHA:70578
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... OMIM:104200
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... ORPHA:48377
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis, Lymphadenitis ORPHA:319552
Fanconi Anemia, Complementation Group Q
Short stature, Chromosome breakage, Growth delay OMIM:615272
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:1192
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria OMIM:610205
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... ORPHA:567548
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:616730
Autoimmune Lymphoproliferative Syndrome
Systemic lupus erythematosus, Increased circulating IgE level, Increased circulating antibody lev... ORPHA:3261
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Postnatal growth retardation, Intrauter... OMIM:210900
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Failure to thrive, Eczematoid dermatit... OMIM:243700
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula... ORPHA:228302
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Difficulty walking, Dysmetria, Paraparesis, Gait disturbance OMIM:302800
Fanconi Anemia, Complementation Group B
Intrauterine growth retardation, Abnormality of chromosome stability, Growth delay, Death in infancy OMIM:300514
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency OMIM:166300
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Myh9-Related Disease
Nephropathy, Nephritis, Renal insufficiency, Proteinuria ORPHA:182050
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Galloway-Mowat Syndrome 10
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... OMIM:619609
Fanconi Anemia, Complementation Group V
Short stature, Chromosomal breakage induced by crosslinking agents OMIM:617243
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... OMIM:617730
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Limb ataxia, Gait ataxia, Dysmetria, Paraparesis, Gait apraxia, Ataxia, Dysd... OMIM:615157
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria OMIM:616026
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Frasier Syndrome
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa... ORPHA:347
Glycogen Storage Disease V
Myoglobinuria, Dark urine OMIM:232600
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis, Glo... OMIM:256300
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Proteinuria, Abnormality of the ki... ORPHA:261222
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgE, Failure to thrive, Decreased circulat... OMIM:615758
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St... OMIM:308940
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Fanconi Anemia, Complementation Group I
Short stature, Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents OMIM:609053
Reni Syndrome
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617575
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria OMIM:618347
Lig4 Syndrome
Abnormality of chromosome stability, Growth delay ORPHA:99812
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec... ORPHA:3337
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis ORPHA:231445
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Proteinuria OMIM:613404
Icf Syndrome
Short stature, Abnormality of chromosome stability ORPHA:2268
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena... OMIM:146255
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag... OMIM:301050
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Proteinuria, Hematuria ORPHA:1765
Alport Syndrome
Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m... ORPHA:63
Vitamin B12-Unresponsive Methylmalonic Acidemia
Paraparesis, Pancreatitis, Choreoathetosis, Ataxia ORPHA:27
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentrat... ORPHA:542323
Fanconi Anemia, Complementation Group E
Short stature, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dime... OMIM:600901
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Recurren... ORPHA:368
Preeclampsia
Chronic kidney disease, Acute kidney injury, Renal insufficiency, Proteinuria, Abnormality of the... ORPHA:275555
Fanconi Anemia, Complementation Group A
Short stature, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dime... OMIM:227650
Autoinflammatory-Pancytopenia Syndrome
Proteinuria, Membranoproliferative glomerulonephritis OMIM:619858
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Ataxia OMIM:612736
Fanconi Anemia, Complementation Group U
Chromosome breakage, Growth delay OMIM:617247
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Abnormality of the kidney ORPHA:369
Bone Marrow Failure Syndrome 3
Short stature, Chromosome breakage, Intrauterine growth retardation OMIM:617052
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Intrauterine growth retardation, Prolo... OMIM:227645
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:618348
Fanconi Anemia, Complementation Group R
Chromosomal breakage induced by crosslinking agents, Growth delay OMIM:617244
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interleukin concentration, Chronic mucocutaneous candidiasis, Panhypogammagl... ORPHA:79124
Fanconi Anemia, Complementation Group P
Short stature, Chromosomal breakage induced by crosslinking agents, Growth delay OMIM:613951
Neuraminidase Deficiency
Proteinuria, Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosacch... OMIM:256550
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Abnormal urinary color ORPHA:90035
Intellectual Developmental Disorder, Autosomal Dominant 56
Inability to walk, Broad-based gait, Paraparesis, Ataxia OMIM:617854
Becker Muscular Dystrophy
Myoglobinuria, Abnormal urinary color ORPHA:98895
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Sweet Syndrome
Inflammation of the large intestine, Abnormal circulating interleukin concentration, Acne inversa... ORPHA:3243
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias OMIM:619428
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis ORPHA:101005
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... OMIM:300554
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Chronic tubulo... OMIM:614376
Adrenoleukodystrophy
Hypogonadism, Limb ataxia, Paraparesis, Truncal ataxia, Impotence OMIM:300100
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Autoimmunity, Infectious encephalitis ORPHA:363558
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Hyperphosphaturia, Re... OMIM:227810
Dyskeratosis Congenita, Autosomal Recessive 8
Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents OMIM:620133
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Elevated urinary norepinephrine level OMIM:171420
Fanconi Anemia, Complementation Group L
Chromosome breakage, Intrauterine growth retardation, Chromosomal breakage induced by crosslinkin... OMIM:614083
Free Sialic Acid Storage Disease
Proteinuria, Nephrotic syndrome ORPHA:834
Cystinosis
Nephropathy, Aminoaciduria, Renal insufficiency, Renal tubular dysfunction, Proteinuria ORPHA:213
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hyperechogenic kidneys, Proteinuria, Polyuria, Renal salt wasting OMIM:613845
X-Linked Adrenoleukodystrophy
Gait disturbance, Paraparesis, Impotence, Progressive spastic paraparesis ORPHA:43
Hypomagnesemia 3, Renal
Chronic kidney disease, Hematuria, Macroscopic hematuria, Sterile pyuria, Renal magnesium wasting... OMIM:248250
Pauci-Immune Glomerulonephritis
Acute kidney injury, Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Glom... ORPHA:93126
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... ORPHA:436271
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Glycosuria,... ORPHA:411634
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Mild proteinuria OMIM:301108
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Proteinuria, Tubulointerstitial nephritis OMIM:616901
Renal Hypodysplasia/Aplasia 1
Proteinuria, Bilateral renal agenesis, Renal dysplasia OMIM:191830
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Chromosomal breakage induced by crosslinking agents OMIM:610832
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Autoimmunity, Psor... ORPHA:85436
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Rheumatoid arthritis, Hepatitis, Autoimmunity, Decreased circulating antibody... ORPHA:227990
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... ORPHA:276621
Frontotemporal Dementia With Motor Neuron Disease
Paraparesis, Progressive cerebellar ataxia ORPHA:275872
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Decreased glomerular filtration rate, Re... ORPHA:85450
Heme Oxygenase 1 Deficiency
Hematuria, Nephritis, Proteinuria OMIM:614034
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Fanconi Anemia, Complementation Group F
Short stature, Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents OMIM:603467
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... OMIM:220110
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Primary Angiitis Of The Central Nervous System
Paraparesis, Ataxia ORPHA:140989
Fanconi Anemia, Complementation Group D2
Short stature, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dime... OMIM:227646
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Rheumatoid arthritis, Hepatitis, Autoimmunity, Decreased circulating antibody... ORPHA:227982
Cartilage-Hair Hypoplasia
Rhizomelia, Abnormality of chromosome stability, Disproportionate short-limb short stature ORPHA:175
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Papa Syndrome
Proteinuria ORPHA:69126
Cryoglobulinemic Vasculitis
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:91138
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Proteinuria, Glomerular sclerosis, Recurrent myoglobinuria, N... OMIM:607426
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi... ORPHA:47159
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Pediatric Systemic Lupus Erythematosus
Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency, Hematuria, Protein... ORPHA:93552
Kufor-Rakeb Syndrome
Akinesia, Paraparesis, Gait disturbance, Ataxia OMIM:606693
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Paraparesis OMIM:105550
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Wild Type Attr Amyloidosis
Nephropathy, Nephrotic syndrome, Renal insufficiency, Proteinuria ORPHA:330001
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Proteinuria, Glomerular sclerosis, Abnormal renal medu... ORPHA:439232
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Microscopic hematuria, Hemolytic-uremic syndrome, Abnormal renal physiology OMIM:274150
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep... ORPHA:488627
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... ORPHA:29072
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Glomerulopathy... OMIM:254900
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Renal Fanconi syndrome, Glycosuria ORPHA:263455
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria ORPHA:57
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria ORPHA:90060
Hypocomplementemic Urticarial Vasculitis
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:36412
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration, Small for gestational age, Cholecystitis ORPHA:69665
Fanconi Anemia
Abnormality of chromosome stability, Intrauterine growth retardation, Azoospermia, Short stature,... ORPHA:84
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 chron... ORPHA:1830
Fabry Disease
Proteinuria, Urinary mulberry cells, Lipiduria, Renal insufficiency OMIM:301500
Distal Limb Deficiencies-Micrognathia Syndrome
Proteinuria, Renal hypoplasia, Renal insufficiency ORPHA:1307
Pseudo-Torch Syndrome 3
Proteinuria, Acute kidney injury OMIM:618886
Severe Oculo-Renal-Cerebellar Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2715
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst... ORPHA:33001
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Obesity, Paraparesis, Gait disturbance, Ataxia, Overweight ORPHA:2822
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Moderate proteinuria, Proteinuria, Hyperechogenic kidneys, Hemolytic-uremic syndrome OMIM:301110
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria ORPHA:251004
Malakoplakia
Urinary bladder inflammation, Urinary hesitancy, Hematuria, Proteinuria, Dysuria, Urinary urgency ORPHA:556
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Methylmalonic aciduria, Cystathioninuria, Renal... OMIM:277400
Pheochromocytoma
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Nijmegen Breakage Syndrome
Short stature, Abnormality of chromosome stability ORPHA:647
Galloway-Mowat Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:2065
Ohdo Syndrome
Proteinuria OMIM:249620
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
Mitochondrial Trifunctional Protein Deficiency 2
Myoglobinuria, Recurrent myoglobinuria OMIM:620300
Basal Ganglia Disease, Biotin-Thiamine Responsive
Inability to walk, Paraparesis, Gait ataxia OMIM:607483
Riddle Syndrome
Short stature, Chromosomal breakage induced by ionizing radiation ORPHA:420741
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy ORPHA:86818
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys... ORPHA:411629
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... OMIM:242900
Majeed Syndrome
Proteinuria, Glomerulopathy, Microscopic hematuria ORPHA:77297
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Recurrent urinary tract infections, Hyperechogenic kidney... OMIM:619487
Rift Valley Fever
Hepatitis, Skin rash, Infectious encephalitis, Paraparesis, Increased circulating IgG level, Incr... ORPHA:319251
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Proteinuria, Nephrotic syndrome, Renal tubular atr... OMIM:617303
Legionnaires Disease
Hematuria, Proteinuria, Renal insufficiency ORPHA:549
Simple Cryoglobulinemia
Nephritis, Renal insufficiency, Mesangial hypercellularity, Proteinuria, Abnormality of the kidne... ORPHA:91139
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Paraparesis, Pancreatitis,... ORPHA:449427
Renal Nutcracker Syndrome
Hematuria, Proteinuria, Renal artery stenosis, Microscopic hematuria ORPHA:71273
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria OMIM:620138
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Medullary... OMIM:219800
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Myoglobinuria, Ketonuria, 3-Methylglutaconic aciduria OMIM:251900
Eosinophilic Granulomatosis With Polyangiitis
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Tubulointerstitial nephritis ORPHA:183
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Red-brown urine ORPHA:228305
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Myoglobinuria, Renal tubular epithelial necrosis... ORPHA:157
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Dicarboxylic aciduria, Renal insufficiency, Myoglobinuria, Renal tubular epithel... ORPHA:228308
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Multiple bladder diverticula ORPHA:2728
Arima Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... OMIM:243910
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration ORPHA:101096
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Proteinuria ORPHA:1018
Poliomyelitis
Inability to walk, Myelitis, Paraparesis, Infectious encephalitis ORPHA:2912
Spinal Arteriovenous Metameric Syndrome
Paraparesis ORPHA:53721
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232200
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Paraparesis, Failure to thrive OMIM:620358
Nail-Patella Syndrome
Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome OMIM:161200
Galloway-Mowat Syndrome 3
Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomerular sclerosis, N... OMIM:617729
Acute Transverse Myelitis
Priapism, Systemic lupus erythematosus, Autoimmunity, Paraparesis, Gait disturbance, Abnormal libido ORPHA:139417
Donnai-Barrow Syndrome
Proteinuria, Non-acidotic proximal tubulopathy OMIM:222448
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Mild proteinuria OMIM:619685
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Heavy proteinuria, Prote... ORPHA:505248
Nail-Patella Syndrome
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic... ORPHA:2614
Martin-Probst Syndrome
Proteinuria, Chordee, Renal insufficiency, Micropenis OMIM:300519
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Proteinuria, Glomerular sclerosis ORPHA:247691
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Mild proteinuria OMIM:619147
Wagro Syndrome
Proteinuria, Nephroblastoma OMIM:612469
Hellp Syndrome
Hemoglobinuria, Proteinuria, Acute kidney injury ORPHA:244242
Congenital Disorder Of Glycosylation, Type Ia
Proteinuria, Nephrotic syndrome, Proximal tubulopathy, Renal cyst OMIM:212065
Lymphatic Filariasis
Urethral obstruction, Hematuria, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Neph... ORPHA:2035
Farber Disease
Paraparesis, Failure to thrive, Arthritis ORPHA:333
Spondyloenchondrodysplasia
Chronic kidney disease, Hematuria, Proteinuria ORPHA:1855
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Anuria, Decreased glomerular filtration ra... ORPHA:340
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232220
Meningioma
Chromosomal breakage induced by ionizing radiation ORPHA:2495
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, He... OMIM:232240
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis... OMIM:251300
Osteootohepatoenteric Syndrome
Grade II vesicoureteral reflux, Proteinuria OMIM:619377
Lysinuric Protein Intolerance
Renal fibrosis, Hyperlysinuria, Renal amyloidosis, Oroticaciduria, Decreased glomerular filtratio... ORPHA:470
Xfe Progeroid Syndrome
Proteinuria, Renal insufficiency OMIM:610965
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria OMIM:194380
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst OMIM:208500
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria OMIM:255125
Arachnoid Cyst
Inability to walk, Paraparesis, Gait disturbance ORPHA:2356
Cockayne Syndrome Type 1
Proteinuria, Renal insufficiency ORPHA:90321
Imerslund-Gräsbeck Syndrome
Proteinuria ORPHA:35858
Mitochondrial Trifunctional Protein Deficiency 1
Myoglobinuria OMIM:609015
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria ORPHA:71212
Agel Amyloidosis
Proteinuria, Stage 5 chronic kidney disease ORPHA:85448
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Acute kidney injury, Glycosuria, Renal insufficiency, Proteinuria, Renal ... ORPHA:447
Cornelia De Lange Syndrome 1
Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflux, Proteinu... OMIM:122470
Wilson Disease
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Nephrolithiasis, Protein... OMIM:277900
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Ketonuria OMIM:616878
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria OMIM:300908
Neuroleptic Malignant Syndrome
Urinary incontinence, Proteinuria, Myoglobinuria, Acute kidney injury ORPHA:94093
Adult-Onset Still Disease
Proteinuria ORPHA:829
Immunoglobulin A Vasculitis
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:761
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Melas
Nephropathy, Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy ORPHA:550
Gitelman Syndrome
Focal segmental glomerulosclerosis, Enuresis, Renal tubular acidosis, Proteinuria, Decreased urin... ORPHA:358
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Renal insufficiency, Nephrolithiasis, Hematu... ORPHA:534
Paget Disease Of Bone 2, Early-Onset
Paraparesis OMIM:602080
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Myoglobinuria, Renal tubular acidosis ORPHA:79240
Fabry Disease
Nephropathy, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Abnormal renal tubule m... ORPHA:324
Acquired Generalized Lipodystrophy
Proteinuria ORPHA:79086
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Myoglobinuria, Renal tubular acidosis ORPHA:264580
Cocaine Intoxication
Acute kidney injury, Hematuria, Proteinuria, Glomerulonephritis, Tubulointerstitial nephritis ORPHA:90068
Bardet-Biedl Syndrome 20
Proteinuria, Micropenis OMIM:619471
Oculodentodigital Dysplasia
Ataxia, Paraparesis, Uveitis OMIM:164200
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Myoglobinuria ORPHA:423
Insulin-Resistance Syndrome Type B
Proteinuria, Nephritis, Glycosuria ORPHA:2298
Goodpasture Syndrome
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein... OMIM:233450
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Sterile pyuria, Beta 2-microglobulinuria, Decreased glomerular filtration rate, Re... ORPHA:91500
Neurofibromatosis, Familial Spinal
Paraparesis OMIM:162210
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Stage 5 chronic kidney disease, Nephrolithiasis, Proteinuria, Tubulointerstitia... ORPHA:79259
Granulomatosis With Polyangiitis
Ureteral stenosis, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Hydronephrosis ORPHA:900
Cerebrotendinous Xanthomatosis
Gait disturbance, Spastic paraparesis, Paraparesis, Ataxia ORPHA:909
Holoprosencephaly
Proteinuria, Hypoplasia of penis, Abnormality of the urinary system ORPHA:2162
Pierson Syndrome
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,... OMIM:609049
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, Pr... OMIM:614748
Cockayne Syndrome
Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Proteinuria, Neurogenic bladder... ORPHA:191