Gene Summary

Name:
intersectin 2
Synonyms:
Sh3p18,  Ese2,  Eh domain, SH3 domain regulator of endocytosis 2,  Sh3d1B

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
hyperactivity Itsn2tm1.1(KOMP)Vlcg HOM Early adult 2.36×10-06
enlarged heart Itsn2tm1.1(KOMP)Vlcg HOM Early adult 0.00
increased exploration in new environment Itsn2tm1.1(KOMP)Vlcg HOM Early adult 7.84×10-05
abnormal coat/ hair morphology Itsn2tm1.1(KOMP)Vlcg HOM Early adult 4.90×10-06
abnormal heart morphology Itsn2tm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 50% (1 of 2)
Parathyroid gland  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Trigeminal V nerve  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

34 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

Human diseases caused by Itsn2 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 Itsn2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Uridine-Cytidineuria
Elevated uridine in urine, Elevated urinary cytidine OMIM:618477
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Proteinuria, Glomerulopathy OMIM:611771
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Nephrotic Syndrome, Type 16
Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... OMIM:603965
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Hematuria, Proteinuria, Focal segmental glomerulosclerosis OMIM:607832
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617609
Ethanolaminosis
Cardiomegaly OMIM:227150
Iga Nephropathy, Susceptibility To, 3
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercellu... OMIM:616818
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Emotional lability, Anxiety, Cognitive impairment, Atten... ORPHA:280397
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... OMIM:137950
Nail-Patella-Like Renal Disease
Microscopic hematuria, Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:2613
Iga Nephropathy, Susceptibility To, 2
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:613944
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephritis, Proteinuria OMIM:161900
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:615573
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Nep... OMIM:614131
Glomerulopathy With Fibronectin Deposits 2
Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal cell carcinoma,... OMIM:601894
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:615008
Intellectual Developmental Disorder, X-Linked 109
Aggressive behavior, Hyperactivity OMIM:309548
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... OMIM:308990
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Coenzyme Q10 Deficiency, Primary, 6
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Focal segmental glomerulosclerosis OMIM:614650
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Heme Oxygenase 1 Deficiency
Hematuria, Proteinuria OMIM:614034
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:600995
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse m... OMIM:610725
8p23.1 deletion syndrome
Atrioventricular canal defect, Atrial septal defect, Hyperactivity, Abnormal heart morphology DECIPHER:39
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Iga Nephropathy, Susceptibility To, 1
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:161950
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis OMIM:614196
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Immunodeficiency 8
Hyperactivity OMIM:615401
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... ORPHA:54370
Galactosemia I
Increased level of galactitol in urine, Albuminuria, Galactosuria, Aminoaciduria OMIM:230400
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617006
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome OMIM:613913
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:614817
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Nephrotic syndro... ORPHA:84090
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Proteinuria, Nephrotic syndrome ORPHA:839
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:603278
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Renal insufficiency, Myoglobinuria OMIM:255110
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Nephrotic range proteinuria, Glomerular sclerosis, Microscopic ... OMIM:619155
Denys-Drash Syndrome
Nephroblastoma, Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:220
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial ... OMIM:615244
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Mucopolysaccharidosis, Type Iiib
Progressive neurologic deterioration, Asymmetric septal hypertrophy, Aggressive behavior, Hirsuti... OMIM:252920
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome OMIM:608709
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Recurrent urinary tract infections, Decr... ORPHA:730
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Anxiety, Dysmetria, Mental deterioration, Attention deficit hyperacti... OMIM:619191
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephropathy, Glomerulopathy, Nephrotic syndrome, Renal insuff... OMIM:254900
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Glomerulonephritis, Microscopic he... ORPHA:567544
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Protein... OMIM:618349
Frasier Syndrome
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:136680
Fanconi Renotubular Syndrome 3
Proteinuria, Aminoaciduria, Hyperphosphaturia, Glycosuria OMIM:615605
Amyloidosis, Familial Visceral
Hematuria, Proteinuria, Nephropathy, Nephrotic syndrome OMIM:105200
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... ORPHA:976
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hepatomegaly, Hyperactivity, Mental deterioration OMIM:615924
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:614455
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Coffin-Siris Syndrome 8
Aggressive behavior, Self-injurious behavior, Long eyelashes, Sparse scalp hair, Thick eyebrow, H... OMIM:618362
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Dent Disease 2
Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercalciuria, Chronic ki... OMIM:300555
Glycogen Storage Disease X
Renal insufficiency, Myoglobinuria OMIM:261670
Glycine Encephalopathy
Lethargy, Irritability, Aggressive behavior, Hyperactivity OMIM:605899
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glomerulonephr... OMIM:613496
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Irritabilit... ORPHA:248111
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
C3 Glomerulopathy
Hematuria, Acute kidney injury, Membranoproliferative glomerulonephritis, Chronic kidney disease,... ORPHA:329918
Fanconi Renotubular Syndrome 1
Lacticaciduria, Aminoaciduria, Glycosuria, Renal insufficiency, Renal tubular dysfunction, Protei... OMIM:134600
Xq25 Duplication Syndrome
Highly arched eyebrow, Sparse eyebrow, Thick eyebrow, Anxiety, Hyperactivity OMIM:300979
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:2668
Hyperprolinemia, Type I
Aggressive behavior, Ataxia, Hyperactivity OMIM:239500
Phenylketonuria
Self-mutilation, Aggressive behavior, Fair hair, Irritability, Anxiety, Hyperactivity, Attention ... OMIM:261600
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Aggressive behavior, Hyperactivity OMIM:604317
Acquired Partial Lipodystrophy
Microscopic hematuria, Proteinuria, Glomerulopathy ORPHA:79087
Imerslund-Grasbeck Syndrome 1
Proteinuria OMIM:261100
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Synophrys, Hyperactivity OMIM:615541
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Chronic kidney disease, Proteinuria OMIM:123550
Xq25 Microduplication Syndrome
Highly arched eyebrow, Sparse eyebrow, Anxiety, Hyperactivity ORPHA:521258
Glycogen Storage Disease, Type Ixd
Exercise-induced myoglobinuria OMIM:300559
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hirsutism, Hyperactivity ORPHA:85288
Sotos Syndrome 3
Hyperactivity OMIM:617169
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Albuminuria, Focal segmental glomerulosclerosis, Microscopic hematuria, Macroscopic hematuria, Ch... ORPHA:567546
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Hematuria, Glomerular basement membrane lamellation, Stage 5 chronic kidney ... OMIM:203780
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Ventricular septal defect, Self-injurious behavior, Patent foramen ovale, A... OMIM:617044
Alazami-Yuan Syndrome
Highly arched eyebrow, Low anterior hairline, Hirsutism, Long eyelashes, Synophrys, Thick eyebrow... OMIM:617126
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Galloway-Mowat Syndrome 5
Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Aminoaciduria, Glycosuria, Nephrocalcinosis, Proteinuria OMIM:616026
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy, Long eyelashes, Synophrys, Hepatomegaly, Cardiomegaly OMIM:619064
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Mild proteinuria, Stage 5 chronic kidney disease OMIM:614377
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Sparse hair OMIM:613576
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria OMIM:618913
Glycogen Storage Disease Xi
Renal insufficiency, Myoglobinuria OMIM:612933
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Ataxia, Hyperactivity OMIM:300983
Lcat Deficiency
Renal insufficiency, Hematuria, Proteinuria ORPHA:650
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerul... OMIM:301006
Fechtner syndrome
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:153640
Lennox-Gastaut Syndrome
Falls, Mental deterioration, Aggressive behavior, Hyperactivity ORPHA:2382
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Nephropathy, Proteinuria OMIM:166300
Galloway-Mowat Syndrome 4
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial scler... OMIM:617730
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Danon Disease
Myocardial fibrosis, Dilated cardiomyopathy, Cardiomegaly, Cognitive impairment, Hypertrophic car... OMIM:300257
Fraxe Intellectual Disability
Aggressive behavior, Hyperactivity ORPHA:100973
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Renal amyloidosis, Proteinuria OMIM:134610
Chromosome 3Q29 Deletion Syndrome
Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity OMIM:609425
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic ki... OMIM:616730
Hyperlysinemia, Type I
Cognitive impairment, Hyperactivity OMIM:238700
Al Amyloidosis
Albuminuria, Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney, Renal interstiti... ORPHA:85443
Idiopathic Steroid-Resistant Nephrotic Syndrome
Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnormal glomerular viscera... ORPHA:567548
Maternally-Inherited Diabetes And Deafness
Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:225
Igg4-Related Kidney Disease
Ureteral obstruction, Hematuria, Acute kidney injury, Albuminuria, Enlarged kidney, Abnormal uret... ORPHA:449395
Peroxisome Biogenesis Disorder 1A (Zellweger)
Albuminuria, Aminoaciduria, Hydronephrosis, Hypospadias, Renal cortical microcysts OMIM:214100
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Truncal ataxia, Limb ataxia, Cardiomegaly, Mental deterioration, Hypertr... OMIM:619051
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Hematuria, Acute kidney injury, Proteinuria ORPHA:54057
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Lethargy, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612926
Mental Retardation, Autosomal Dominant 43
Anxiety, Hyperactivity OMIM:616977
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Steppage gait, Emotional lability, Social and occupational dete... ORPHA:98818
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Aggressive behavior, Broad-based gait, Irritability, Abnormal fear/anxiety-related behavior, Hype... ORPHA:3077
Cednik Syndrome
Proteinuria, Nephrotic syndrome ORPHA:66631
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
Mental Retardation, Autosomal Recessive 61
Highly arched eyebrow, Aggressive behavior, Long eyelashes, Synophrys, Thick eyebrow, Hyperactivity OMIM:617773
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Renal tubular atrophy, Renal insufficiency, Diffuse mesangial sclerosis, Co... OMIM:256300
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Proteinuria, Nephrotic syndrome OMIM:215250
Preeclampsia
Abnormality of the kidney, Chronic kidney disease, Acute kidney injury, Proteinuria ORPHA:275555
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Chronic kidney disease, Nep... ORPHA:85445
Alport Syndrome 3, Autosomal Dominant
Renal insufficiency, Hematuria, Glomerulonephritis, Glomerular basement membrane lamellation, Sta... OMIM:104200
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Self-injurious behavi... ORPHA:261183
Systemic Sclerosis
Acute kidney injury, Albuminuria, Glomerulonephritis, Chronic kidney disease, Renal insufficiency... ORPHA:90291
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:375
Frasier Syndrome
Focal segmental glomerulosclerosis, Glomerulopathy, Nephroblastoma, Nephrotic syndrome, Renal ins... ORPHA:347
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Coffin-Siris Syndrome 7
Abnormal heart morphology, Sparse scalp hair, Thick eyebrow, Hyperactivity, Abnormal cardiac sept... OMIM:618027
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Ataxia, Happy demeanor, Hyperactivity, Broad-based gait ORPHA:411515
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Renal insufficiency, Myoglobinuria ORPHA:2364
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Ataxia, Hyperactivity OMIM:612716
Dent Disease 1
Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, Proximal tubulopath... OMIM:300009
Carnitine Deficiency, Systemic Primary
Lethargy, Endocardial fibroelastosis, Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:212140
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Renal tubular acidosis, Renal cyst, Renal insufficiency, Proteinuria OMIM:610205
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hirsutism, Hyperactivity OMIM:300434
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Highly arched eyebrow, Aggressive behavior, Hyperactivity OMIM:618342
Congenital Toxoplasmosis
Cognitive impairment, Cardiomegaly, Hepatomegaly ORPHA:858
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Glomerulonephritis, Stage 5 chronic kidney disease, Chronic tubulointerstitial ... OMIM:614376
Mucopolysaccharidosis, Type Iiia
Asymmetric septal hypertrophy, Hirsutism, Coarse hair, Synophrys, Hepatomegaly, Splenomegaly, Hyp... OMIM:252900
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:1192
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Renal tubular epithelial necrosis, Tubulointerstitial nephritis, Stage 5 chronic... ORPHA:228302
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Severe Neurodegenerative Syndrome With Lipodystrophy
Generalized hirsutism, Gait ataxia, Ataxia, Hepatomegaly, Progressive psychomotor deterioration, ... ORPHA:363400
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety, Hyperactivity OMIM:271980
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Abnormal cardiac septum morphology, Attention deficit hyperactivity disorder, Hyper... OMIM:614294
Mucopolysaccharidosis, Type Iiic
Asymmetric septal hypertrophy, Hirsutism, Coarse hair, Synophrys, Hepatomegaly, Motor deteriorati... OMIM:252930
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Abnormality of the upper urinary tract, Renal tubula... ORPHA:99885
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Aggressive behavior, Ataxia, Unsteady gait... ORPHA:228360
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Renal artery stenosis, Nephropathy, Proteinuria OMIM:209010
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity OMIM:615516
Myh9-Related Disease
Renal insufficiency, Nephritis, Nephropathy, Proteinuria ORPHA:182050
Infantile Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Cardiomegaly, Fair hair OMIM:269920
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder, Ventricular septal defect OMIM:618504
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Thick eyebrow, Happy demeanor, Hyperactivity, Broad-based gait OMIM:617865
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse m... OMIM:617575
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic ki... OMIM:618348
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Atrial septal defect, Abnormal heart morphology, Hyperactivity, Attention ... ORPHA:352490
Distal 16P11.2 Microdeletion Syndrome
Vesicoureteral reflux, Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Protein... ORPHA:261222
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Gait ataxia, Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait, Cardiomegaly, ... OMIM:619259
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Ataxia, Cardiomegaly, Dementia OMIM:105210
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Proteinuria OMIM:618347
Leiomyomatosis, Diffuse, With Alport Syndrome
Abnormal renal physiology, Renal insufficiency, Hematuria, Nephropathy, Glomerular basement membr... OMIM:308940
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma, Bacterial endocarditis ORPHA:615
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... OMIM:115197
Papillorenal Syndrome
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Aggressive behavior, Synophrys, Hyperactivity OMIM:615824
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Emotional lability, Irritability, Hyperactivity, Cognitive impai... ORPHA:1929
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hematuria, Distal renal tubular acidosis, Unilateral renal dysplasia, Renal dysplasia, Proximal r... OMIM:146255
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Aggressive behavior, Broad-based gait, Dysplastic pulmonary valve OMIM:300958
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Lethargy, Cardiomegaly OMIM:255120
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:251383
Alport Syndrome
Hematuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Proteinuria, Thickene... ORPHA:63
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Xfe Progeroid Syndrome
Renal insufficiency, Proteinuria OMIM:610965
Clark-Baraitser Syndrome
Aggressive behavior, Hyperactivity OMIM:617752
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Dysmetria, Splenomegaly, Cardiomyopathy OMIM:256550
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Cantu Syndrome
Congenital, generalized hypertrichosis, Pericardial effusion, Long eyelashes, Congenital hypertro... OMIM:239850
Beck-Fahrner Syndrome
Cardiomegaly, Anxiety, Attention deficit hyperactivity disorder, Ventricular septal defect OMIM:618798
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria ORPHA:1765
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity OMIM:300831
Chromosome 2Q37 Deletion Syndrome
Highly arched eyebrow, Aggressive behavior, Self-injurious behavior, Hyperactivity, Subvalvular a... OMIM:600430
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Inability to walk, Steppage gait, Abnormal atrioventricular valve morphology, Aortic valve stenos... ORPHA:324410
Gand Syndrome
Sparse hair, Hyperactivity OMIM:615074
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:457260
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Microscopic hematuria, Glomerular basement membrane lamel... OMIM:301050
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acid... ORPHA:3337
Inverted Duplicated Chromosome 15 Syndrome
Aggressive behavior, Ventricular septal defect, Synophrys, Self-biting, Hyperactivity, Tetralogy ... ORPHA:3306
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria ORPHA:98895
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abnormality of the kidney, Proteinuria ORPHA:369
Refsum Disease, Classic
Ataxia, Cardiomegaly, Cardiomyopathy OMIM:266500
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Self-injurious behavior, Hyperactivity OMIM:618718
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Dark urine, Chronic kidney disease, Recurrent myoglobinuria, Exercise-induce... ORPHA:368
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly OMIM:253250
Rubinstein-Taybi Syndrome 2
Hirsutism, Long eyelashes, Hyperactivity OMIM:613684
Pauci-Immune Glomerulonephritis
Acute kidney injury, Nephrotic range proteinuria, Glomerular sclerosis, Decreased glomerular filt... ORPHA:93126
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Alopecia, Splenomegaly, Cardiomyopathy OMIM:235200
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Low-molecular-weight proteinuria, Proximal tubulopathy, Hypercalciuria, ... OMIM:300554
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis OMIM:619269
Ebola Hemorrhagic Fever
Renal insufficiency, Proteinuria ORPHA:319218
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys, Proteinuria OMIM:613845
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Lethargy, Cardiomegaly, Ataxia ORPHA:42
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Hyperactivity ORPHA:500180
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Cardiomegaly, Ventricular septal defect OMIM:618652
16P12.1P12.3 Triplication Syndrome
Skin-picking, Atrial septal defect, Abnormal tricuspid valve morphology, Abnormal heart morpholog... ORPHA:485405
Wilson Disease
Hyperphosphaturia, Aminoaciduria, Glycosuria, Hypercalciuria, Renal tubular dysfunction, Nephroli... OMIM:277900
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Unilateral renal agenesis, Abnormality of medullary p... ORPHA:2260
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect, Hyperactivity OMIM:619239
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine, Proteinuria OMIM:171420
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, ... OMIM:220110
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Aggressive behavior, Hyperactivity ORPHA:101039
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Clcn4-Related X-Linked Intellectual Disability Syndrome
Aggressive behavior, Self-injurious behavior, Progressive cerebellar ataxia, Unsteady gait, Anxie... ORPHA:485350
Smith-Magenis Syndrome
Self-mutilation, Abnormal heart morphology, Synophrys, Head-banging, Hyperactivity OMIM:182290
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Elev... ORPHA:276621
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, ... ORPHA:436271
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity OMIM:275000
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Aggressive behavior, Dementia, Gait disturbance, Ataxia, Low frustration toler... ORPHA:168491
Mucopolysaccharidosis, Type Iiid
Asymmetric septal hypertrophy, Hirsutism, Coarse hair, Synophrys, Hepatomegaly, Thick eyebrow, Sp... OMIM:252940
Fragile X Syndrome
Mitral valve prolapse, Hyperactivity OMIM:300624
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Hsd10 Disease, Infantile Type
Dystonia, Loss of ability to walk, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Renal Agenesis
Renal insufficiency, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Unilateral rena... ORPHA:411709
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Hyperactivity OMIM:615286
2Q23.1 Microdeletion Syndrome
Highly arched eyebrow, Self-injurious behavior, Synophrys, Ataxia, Hyperactivity, Generalized hir... ORPHA:228402
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Lethargy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:201475
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Renal Hypodysplasia/Aplasia 1
Renal dysplasia, Renal agenesis, Proteinuria OMIM:191830
Myoclonic-Astatic Epilepsy
Abnormal emotion/affect behavior, Ataxia, Unsteady gait, Frontal balding, Hyperactivity, Attentio... ORPHA:1942
Naxos Disease
Dilated cardiomyopathy, Curly hair, Abnormal morphology of right ventricular trabeculae, Sparse a... OMIM:601214
Mental Retardation, Autosomal Recessive 13
Synophrys, Hyperactivity OMIM:613192
Cystinosis
Aminoaciduria, Nephropathy, Renal insufficiency, Renal tubular dysfunction, Proteinuria ORPHA:213
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Aminoaciduria, Glycosuria, Renal tubular dysfunction, Proteinuria OMIM:210550
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:609049
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Low anterior hairline, Aggressive behavior, Horizontal eyebrow, Abnormal heart morphology, Ventri... ORPHA:369891
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... ORPHA:1457
Wild Type Attr Amyloidosis
Renal insufficiency, Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:330001
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Aggressive behavior, Self-injurious behavior, Irritability, Anxiety, Hyperactivity, Mitral valve ... ORPHA:449291
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Low-molecular-weight proteinuria, Proximal tubulopathy, Abnormal urine p... ORPHA:411634
Infantile Neuroaxonal Dystrophy
Dystonia, Psychomotor deterioration, Gait disturbance, Ataxia, Emotional lability, Unsteady gait,... ORPHA:35069
Symptomatic Form Of Hemochromatosis Type 1
Lethargy, Apathy, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy ORPHA:465508
Hypertrichotic Osteochondrodysplasia, Cantu Type
Generalized hirsutism, Low anterior hairline, Abnormal heart valve morphology, Long eyelashes, Th... ORPHA:1517
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
X-Linked Adrenoleukodystrophy
Aggressive behavior, Dementia, Gait disturbance, Hyperactivity, Cognitive impairment, Attention d... ORPHA:43
Cryoglobulinemic Vasculitis
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:91138
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Proteinuria ORPHA:69126
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal potassium wasting, Pro... ORPHA:18
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Aggressive behavior, Synophrys, Hyperactivity ORPHA:391307
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Torticollis, Cardiomegaly, Ventricular septal defect OMIM:617022
Sandhoff Disease
Ataxia, Hepatomegaly, Progressive psychomotor deterioration, Cardiomegaly, Hepatosplenomegaly OMIM:268800
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Myoglobinuria OMIM:231530
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hematuria, Cystathioninuria, Nephropathy, Hemolytic-uremic syndrome, Methylmalonic aciduria, Rena... OMIM:277400
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Gaucher Disease, Perinatal Lethal
Progressive neurologic deterioration, Akinesia, Apathy, Hepatomegaly, Cardiomegaly, Splenomegaly,... OMIM:608013
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia, Progressive language deterioration OMIM:610042
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Nephrotic syndrome, Heavy prote... ORPHA:255249
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Mucopolysaccharidosis Type 3
Progressive neurologic deterioration, Aggressive behavior, Dementia, Thick hair, Abnormal mitral ... ORPHA:581
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Ataxia, Alopecia, Hyperactivity, Cognitive impairment OMIM:601853
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Hyperactivity ORPHA:369939
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
Complete Atrioventricular Septal Defect
Lethargy, Complete atrioventricular canal defect, Displacement of the papillary muscles, Hepatome... ORPHA:1329
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Schimke Immunoosseous Dysplasia
Renal insufficiency, Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis OMIM:242900
Pediatric Systemic Lupus Erythematosus
Hematuria, Abnormality of the urinary system, Dark urine, Nephrotic syndrome, Renal insufficiency... ORPHA:93552
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Myoglobinuria ORPHA:713
Aapoaiv Amyloidosis
Renal amyloidosis, Glomerular sclerosis, Chronic kidney disease, Abnormal renal medulla morpholog... ORPHA:439232
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Gait ataxia, Aggressive behavior, Mood swings OMIM:300354
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Microscopic hematuria, Abnormal renal physiology, Proteinuria OMIM:274150
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Aggressive behavior, Ventricular septal defect, Emotional lability, Low fru... OMIM:309520
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Elev... ORPHA:29072
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Dystonia, Irritability, Cardiomegaly OMIM:618278
Schimke Immuno-Osseous Dysplasia
Focal segmental glomerulosclerosis, Nephrotic range proteinuria, Nephropathy, Microscopic hematur... ORPHA:1830
Free Sialic Acid Storage Disease
Proteinuria, Nephrotic syndrome ORPHA:834
Lethal Acantholytic Erosive Disorder
Absent eyelashes, Absent eyebrow, Absent hair, Cardiomegaly, Congenital alopecia totalis, Cardiom... ORPHA:158687
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Proteinuria, Renal Fanconi syndrome ORPHA:263455
Mental Retardation, Autosomal Dominant 7
Hyperactivity, Gait disturbance, Ataxia, Happy demeanor OMIM:614104
Mend Syndrome
Aortic valve stenosis, Hyperactivity OMIM:300960
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria ORPHA:57
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Glomerular sclerosis, Nephrotic syndrome OMIM:607426
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Decreased numbers of nephrons, Renal hypoplasia, Proteinuria, Unilater... OMIM:137920
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Dextrocardia, ... OMIM:306955
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Macroscopic hematuria, Proteinuria, Enlarged kidney ORPHA:251004
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Emotional lability, Dysmetria, Hyperacti... OMIM:610217
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Hypocomplementemic Urticarial Vasculitis
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:36412
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Decreased glomerular filtration rate, Tubulointerstitial nephritis, Chronic kidney disease, Nephr... ORPHA:488627
Intellectual Developmental Disorder, X-Linked 21
Synophrys, Hyperactivity OMIM:300143
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Happy demeanor OMIM:103050
Pseudo-Torch Syndrome 3
Acute kidney injury, Proteinuria OMIM:618886
Glycogen Storage Disease Vii
Exercise-induced myoglobinuria OMIM:232800
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Glomerulopathy, Tubulointerstitial nephritis, Renal duplicati... ORPHA:33001
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Inability to walk, Tip-toe gait, Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Fabry Disease
Lipiduria, Renal insufficiency, Urinary mulberry cells, Proteinuria OMIM:301500
Cri-Du-Chat Syndrome
Self-mutilation, Aggressive behavior, Premature graying of hair, Difficulty walking, Anxiety, Hyp... OMIM:123450
19P13.3 Microduplication Syndrome
Hyperactivity, Self-injurious behavior, Irritability, Ventricular septal defect ORPHA:447980
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:616897
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Red hair, Fair hair OMIM:614613
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Renal insufficiency, Microscopic hematuria, Proteinuria, Glomerulopathy ORPHA:86818
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria ORPHA:284426
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Cardiomyopathy, Biventricular hypertrophy OMIM:261740
Severe Oculo-Renal-Cerebellar Syndrome
Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:2715
Glass Syndrome
Sparse hair, Aggressive behavior, Happy demeanor, Hyperactivity, Broad-based gait OMIM:612313
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Enlarged kidney, Renal tubular atrophy, Nephrotic syndrome, N... OMIM:617303
Yellow Fever
Renal insufficiency, Proteinuria, Nephropathy, Oliguria ORPHA:99829
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Emotional lability, Sparse scalp hair, Hyperactivity, Nail dystrophy OMIM:256800
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lethargy, Enlarged kidney, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy OMIM:608836
Ohdo Syndrome
Proteinuria OMIM:249620
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Dysuria, Hematuria, Acute kidney injury, Abnormal penis morphology, Renal tubular epithelial necr... ORPHA:95455
Chromosome 10Q26 Deletion Syndrome
Atrial septal defect, Aggressive behavior, Hyperactivity, Low posterior hairline, Broad-based gait OMIM:609625
19P13.12 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Self-injurious behavior, Synophrys, Hyperactivit... ORPHA:254346
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Ataxia, Happy demeanor, Hyperactivity, Gait imbalance, Broad-based gait ORPHA:98794
Potocki-Lupski Syndrome
Patent foramen ovale, Atrial septal defect, Hyperactivity OMIM:610883
Hemorrhagic Fever-Renal Syndrome
Abnormal renal tubule morphology, Oliguria, Abnormal tubulointerstitial morphology, Renal insuffi... ORPHA:340
Pheochromocytoma
Elevated urinary norepinephrine, Renal artery stenosis, Proteinuria OMIM:171300
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, High anterior hairline, Abnormal heart morphology OMIM:615873
Developmental And Epileptic Encephalopathy 95
Inability to walk, Highly arched eyebrow, Gait disturbance, Ataxia, Hepatomegaly, Cardiomegaly OMIM:618143
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria OMIM:255125
Galloway-Mowat Syndrome
Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:2065
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria ORPHA:90060
Galloway-Mowat Syndrome 3
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial scler... OMIM:617729
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Enlarged kidney, Decreased glomerular filtration rate, Nephro... OMIM:232200
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Anxiety, Aggressive behavior, Ataxia, Hyperactivity OMIM:618430
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hyperactivity, Memory... ORPHA:139396
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Multiple bladder diverticula ORPHA:2728
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Tubulointerstitial ne... ORPHA:157
Legionnaires Disease
Renal insufficiency, Hematuria, Proteinuria ORPHA:549
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Renal Nutcracker Syndrome
Microscopic hematuria, Hematuria, Renal artery stenosis, Proteinuria ORPHA:71273
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Low anterior hairline, Low posterior hairline, Attention deficit hyperactivity disorder, Hyperact... ORPHA:73272
Malakoplakia
Dysuria, Hematuria, Urinary hesitancy, Urinary bladder inflammation, Urinary urgency, Proteinuria ORPHA:556
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Enlarged kidney, Decreased glomerular filtration rate, Nephro... OMIM:232220
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria, Abnormal tubuloin... ORPHA:411629
Majeed Syndrome
Microscopic hematuria, Proteinuria, Glomerulopathy ORPHA:77297
Eosinophilic Granulomatosis With Polyangiitis
Hematuria, Glomerulopathy, Tubulointerstitial nephritis, Renal insufficiency, Proteinuria ORPHA:183
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Red-brown urine, Myoglobinuria ORPHA:228305
Glycogen Storage Disease Ic
Hematuria, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insuff... OMIM:232240
Fucosidosis
Hepatomegaly, Thick eyebrow, Cardiomegaly, Splenomegaly OMIM:230000
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Tubulointerstitial ne... ORPHA:228308
Citrullinemia Type Ii
Lethargy, Aggressive behavior, Hepatomegaly, Irritability, Hyperactivity, Memory impairment ORPHA:247585