Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
aspartylglucosaminidase
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Aga 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.

The table below shows human diseases associated to Aga by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Aspartylglucosaminuria
Hepatomegaly, Spasticity, Aspartylglucosaminuria, Cerebral atrophy OMIM:208400
Aspartylglucosaminuria
Hepatomegaly, Aspartylglucosaminuria, Splenomegaly ORPHA:93

The table below shows human diseases predicted to be associated to Aga by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Recessive Spastic Paraplegia Type 78
Dystonia, Babinski sign, Cerebellar atrophy, Progressive extrapyramidal movement disorder, Progre... ORPHA:513436
Congenital Disorder Of Glycosylation, Type Iii
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Truncal ataxia, Cerebral atroph... OMIM:613612
Adult Polyglucosan Body Disease
Gait disturbance, Urinary bladder sphincter dysfunction, Abnormality of extrapyramidal motor func... ORPHA:206583
Polyglucosan Body Neuropathy, Adult Form
Gait disturbance, Paresthesia, Distal sensory impairment, Tetraparesis, Spastic paraplegia, Abnor... OMIM:263570
Diaminopentanuria
Neurodegeneration, Cystinuria, Ataxia, Spasticity, Hyperlysinuria OMIM:222350
Machado-Joseph Disease Type 3
Clumsiness, Dystonia, Babinski sign, Cerebellar atrophy, Dilated fourth ventricle, Vocal cord par... ORPHA:276244
Machado-Joseph Disease Type 1
Clumsiness, Dystonia, Babinski sign, Cerebellar atrophy, Dilated fourth ventricle, Vocal cord par... ORPHA:276238
Machado-Joseph Disease Type 2
Clumsiness, Dystonia, Babinski sign, Cerebellar atrophy, Dilated fourth ventricle, Vocal cord par... ORPHA:276241
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Gait disturbance, Dystonia, Babinski sign, Rigidity, Neuronal loss in central nervous system, Myo... OMIM:600795
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Spastic Paraplegia 80, Autosomal Dominant
Gait disturbance, Babinski sign, Urinary urgency, Ataxia, Spastic paraplegia, Abnormal cerebellum... OMIM:618418
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired proprioception, Babinski sign, Mitochondrial hypertrophy, Impaired vibratory sensation, ... OMIM:500013
Dibasic Amino Aciduria I
Argininuria, Dibasicaminoaciduria, Hyperlysinuria, Ornithinuria OMIM:222690
Hemangioblastoma
Dysesthesia, Cerebellar hemangioblastoma, Cerebellar edema, Neurogenic bladder ORPHA:252054
Wolfram Syndrome 1
Hydronephrosis, Tremor, Ataxia, Cerebral atrophy, Hydroureter, Neurogenic bladder OMIM:222300
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Hydronephrosis, Recurrent urinary tract infections, Stage 2 chronic kidney disease, ... OMIM:191800
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ethylmalonic aciduria, Paralysis, Microvesicular hepatic steatosis, Cerebellar atrophy, Hepatomeg... OMIM:203700
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Gait disturbance, Homocystinuria, Incoordination, Paresthesia OMIM:236250
Familial Infantile Bilateral Striatal Necrosis
Gait disturbance, Dystonia, Babinski sign, Rigidity, Choreoathetosis, Frequent falls, Myoclonus, ... ORPHA:225154
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Slowed slurred speech, Nephropathy, Astrocytosis OMIM:172500
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Camos Syndrome
Progressive extrapyramidal movement disorder, Nephrotic syndrome, Ataxia, Aplasia/Hypoplasia of t... ORPHA:83472
Hyperprolinemia, Type I
Prolinuria, Hydroxyprolinuria, Stereotypy, Ataxia, Hyperactivity, Hyperglycinuria OMIM:239500
X-Linked Adrenoleukodystrophy
Clumsiness, Gait disturbance, Paralysis, Urinary bladder sphincter dysfunction, Neurogenic bladde... ORPHA:43
Cog5-Cdg
Hepatomegaly, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Abnormality of th... ORPHA:263487
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Dystonia, Babinski sign, Cerebellar atrophy, Urinary urgency, Dysmetria, Atrophy/Degeneration aff... OMIM:612319
Becker Muscular Dystrophy
Myoglobinuria, Falls, Tip-toe gait, Elevated hepatic transaminase, Abnormal urinary color, Diffic... ORPHA:98895
Foix-Alajouanine Syndrome
Gait imbalance, Paresthesia, Urinary retention, Frequent falls, Progressive spastic paraparesis, ... ORPHA:79093
Iminoglycinuria
Prolinuria, Hydroxyprolinuria, Hyperglycinuria OMIM:242600
Iminoglycinuria
Prolinuria, Hydroxyprolinuria, Hyperglycinuria ORPHA:42062
Peroxisome Biogenesis Disorder 10B
Spastic paraplegia, Prolonged neonatal jaundice, Neurogenic bladder, Nephrocalcinosis OMIM:617370
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Leukodystrophy, Progressive, Early Childhood-Onset
Dystonia, Thick eyebrow, Spasticity, Cerebral atrophy, Neurogenic bladder OMIM:617762
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Tubulointerstitial fibrosis, Proteinuria, Nephrotic syndrome OMIM:614196
Hartnup Disorder
Neutral hyperaminoaciduria, Hypertonia, Episodic ataxia OMIM:234500
Pelizaeus-Merzbacher Disease In Female Carriers
Gait disturbance, Babinski sign, Lower limb spasticity, Abnormality of the lower urinary tract, I... ORPHA:280229
Cystinuria
Ornithinuria, Nephrolithiasis, Cystinuria, Recurrent urinary tract infections, Argininuria, Hyper... OMIM:220100
Hyperprolinemia, Type Ii
Prolinuria, Hydroxyprolinuria, Hyperglycinuria OMIM:239510
Autosomal Recessive Spastic Paraplegia Type 77
Dystonia, Paroxysmal dystonia, Babinski sign, Weakness due to upper motor neuron dysfunction, Sci... ORPHA:466722
Saccharopinuria
Citrullinuria, Saccharopinuria, Hyperlysinuria, Histidinuria OMIM:268700
Endove Syndrome, Limb-Brain Type
Recurrent urinary tract infections, Hydronephrosis, Cerebellar agenesis, Neurogenic bladder OMIM:619218
Porphyria Variegata
Hypertrichosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Porphyrinuria, Respirato... ORPHA:79473
Spastic Paraplegia, Ataxia, And Mental Retardation
Dystonia, Babinski sign, Cerebellar atrophy, Urinary urgency, Knee clonus, Urinary bladder sphinc... OMIM:607565
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... OMIM:174000
Neuraminidase Deficiency
Hepatomegaly, Dysmetria, Myoclonus, Urinary excretion of sialylated oligosaccharides, Splenomegal... OMIM:256550
Stimmler Syndrome
Ataxia, Aminoaciduria ORPHA:3199
Sporadic Creutzfeldt-Jakob Disease
Babinski sign, Neuronal loss in central nervous system, Gliosis, Myoclonus, Abnormality of extrap... ORPHA:204
Sialidosis Type 1
Gait disturbance, Myoclonus, Urinary excretion of sialylated oligosaccharides, Splenomegaly, Trem... ORPHA:812
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Proximal tubulopathy, Weight loss, Progressive neurologic deteriorat... OMIM:612075
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612926
Hsd10 Disease
Gait disturbance, Abnormal urinary acylglycine profile, Choreoathetosis, Rigidity, Myoclonus, Tre... ORPHA:391417
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Progressive spasticity, Dystonia, Cerebellar atrophy, Hirsutism, Cataplexy, Sparse eyebrow, Fasci... ORPHA:496641
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Impaired histidine renal tubular absorption, Cerebral cortical atrophy, Ventriculom... ORPHA:2158
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... ORPHA:976
Inherited Creutzfeldt-Jakob Disease
Central nervous system degeneration, Clumsiness, Babinski sign, Global brain atrophy, Neuronal lo... ORPHA:282166
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Gliosis, Myoclonus, Diffuse cer... OMIM:614946
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Cerebellar atrophy, Neurodegeneration, Tremor, Ataxia, Spasticity, Apraxia OMIM:615889
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Dystonia, Babinski sign, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Intenti... ORPHA:171695
Lysine Malabsorption Syndrome
Hyperlysinuria, Renal tubular lysine transport defect OMIM:247950
Brain-Lung-Thyroid Syndrome
Hypospadias, Dystonia, Clumsiness, Involuntary movements, Choreoathetosis, Chorea, Megacystis, My... ORPHA:209905
Joubert Syndrome 35
Highly arched eyebrow, Hydronephrosis, Recurrent urinary tract infections, Multicystic kidney dys... OMIM:618161
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis OMIM:619365
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Dystonia, Hypoplasia of the pons, Vocal cord paralysis, Myoclonus, Spasticity, Cerebral cortical ... ORPHA:500144
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Astrocytosis, Difficulty walking, Nephrocalcinosis OMIM:611087
Bardet-Biedl Syndrome 12
Obesity, Cognitive impairment, Abnormality of the kidney OMIM:615989
3-Hydroxyisobutyric Aciduria
Failure to thrive, Congenital intracerebral calcification, Aminoaciduria, Microcephaly OMIM:236795
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Dysmetria, Myoclonus, Ataxia, Aminoaciduria OMIM:250620
Arima Syndrome
Renal tubular atrophy, Hepatomegaly, Hepatic fibrosis, Agenesis of cerebellar vermis, Dilated fou... OMIM:243910
Spastic Paraplegia 30, Autosomal Dominant
Babinski sign, Cerebellar atrophy, Urinary bladder sphincter dysfunction, Dysmetria, Spastic gait... OMIM:610357
Hereditary Coproporphyria
Extension of hair growth on temples to lateral eyebrow, Hepatocellular carcinoma, Porphyrinuria, ... ORPHA:79273
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:256100
Hyperprolinemia Type 1
Prolinuria, Proteinuria, Nephropathy ORPHA:419
Urofacial Syndrome 2
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... OMIM:615112
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Proteinuria OMIM:618913
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Hydronephrosis, Cerebellar atrophy, Hypertrichosis, Low anterior hairline, Splenome... OMIM:608779
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Oromotor apraxia, Cerebellar atrophy, Spasticity, Neurogenic bladder ORPHA:466934
Mitochondrial Complex I Deficiency, Nuclear Type 27
Spasticity, Neurogenic bladder OMIM:618248
Nephronophthisis 3
Renal tubular atrophy, Hepatic fibrosis, Nephronophthisis, Tubulointerstitial fibrosis, Renal cor... OMIM:604387
Adrenomyodystrophy
Abnormality of the urinary system, Hepatic steatosis, Megacystis ORPHA:977
Hartnup Disease
Ataxia, Neutral hyperaminoaciduria, Abnormal urinary color ORPHA:2116
Spastic Paraplegia 10, Autosomal Dominant
Babinski sign, Knee clonus, Urinary urgency, Urinary bladder sphincter dysfunction, Spastic gait,... OMIM:604187
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Choreoathetosis, Spasticity, Vesicoureteral reflux, Cerebral cortical atrophy ORPHA:85285
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Abnormal tubulointerstitial morphology, Cholestatic liver disease,... OMIM:602114
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Attention deficit hyperactivity disorder, Alpha-aminoadipic aciduria OMIM:204750
Renal Tubular Dysgenesis
Anuria, Renotubular dysgenesis, Abnormality of the urinary system OMIM:267430
Spinocerebellar Ataxia 17
Dystonia, Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Neuronal loss in central nervous syste... OMIM:607136
Glutamate-Cysteine Ligase Deficiency
Ataxia, Aminoaciduria, Hepatosplenomegaly, Jaundice ORPHA:33574
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Oligospermia, Hepatomegaly, Tubulointerstitial nephritis, Nephrotic syndro... ORPHA:85450
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Bardet-Biedl Syndrome 18
Obesity, Cognitive impairment, Renal insufficiency OMIM:615995
Arnold-Chiari Malformation Type Ii
Abnormality of the medulla oblongata, Opisthotonus, Paraplegia, Neurogenic bladder, Paraparesis, ... ORPHA:1136
Congenital Primary Megaureter
Hydronephrosis, Abnormal penis morphology, Congenital megaureter, Nephrolithiasis, Recurrent urin... ORPHA:617
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Dystonia, Urinary urgency, Dysmetria, Spastic dysarthria, Spastic ataxia, Progressive cerebellar ... ORPHA:314603
Duplication Of Urethra
Hypospadias, Bladder duplication, Chordee, Anuria, Hypertrophy of the urinary bladder, Dysuria, C... ORPHA:237
Schindler Disease, Type I
Myoclonus, Increased urinary O-linked sialopeptides, Spasticity OMIM:609241
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomeg... OMIM:263200
Bardet-Biedl Syndrome 10
Cognitive impairment, Renal cyst, Obesity, Renal insufficiency, Abnormality of the kidney OMIM:615987
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Loss of ability to walk in early childhood, Aminoaciduria, Inability to walk, Cerebral atrophy OMIM:609560
Glutathione Synthetase Deficiency
Spastic tetraparesis, Ataxia, Increased level of L-pyroglutamic acid in urine, Intention tremor OMIM:266130
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Cerebellar atrophy, Urinary urgency, Falls, Bradykinesia, Spastic te... OMIM:617225
Leukodystrophy, Hypomyelinating, 12
Cerebellar atrophy, Spasticity, Neurogenic bladder OMIM:616683
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Pontocerebellar atrophy, Hydronephrosis, Tremor, Ataxia, Oculomotor apraxia, Eyelid myoclonus, In... OMIM:618060
Cockayne Syndrome Type 3
Renal hypoplasia, Hydronephrosis, Hepatomegaly, Dry hair, Urinary retention, Elevated hepatic tra... ORPHA:90324
Maternal Uniparental Disomy Of Chromosome 4
Impaired proprioception, Dysmetria, Spastic gait, Chaddock reflex, Ataxia, Impaired vibratory sen... ORPHA:96180
Dubin-Johnson Syndrome
Hepatomegaly, Biliary tract abnormality, Abnormality of the liver, Abnormal urinary color, Jaundice ORPHA:234
Ring Chromosome 8 Syndrome
Low posterior hairline, Hydronephrosis, Abnormality of the ureter ORPHA:1450
Hyper-Beta-Alaninemia
Failure to thrive, Increased urinary taurine OMIM:237400
Porphyria
Cerebral palsy, Abnormal urinary color, Paresthesia ORPHA:738
Harderoporphyria
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Prolonged neonatal jaundice, Incre... OMIM:618892
Dystonia-Aphonia Syndrome
Gait disturbance, Abnormal mitochondrial shape, Cerebellar atrophy, Oromandibular dystonia, Myocl... ORPHA:412217
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Abnormality of extrapyramidal motor function, Senile plaques, Astrocyt... ORPHA:100070
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Duplicated collecting system, Decreased liver function, Hepatic steatosis, Spasti... OMIM:617093
Alport Syndrome
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... ORPHA:63
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria, Abnormal hair morphology OMIM:242550
Atresia Of Urethra
Patent urachus, Hydronephrosis, Renal dysplasia, Megacystis, Bladder fistula, Recurrent urinary t... ORPHA:105
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Galactosemia Iii
Hepatomegaly, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice OMIM:230350
Genetic Recurrent Myoglobinuria
Exercise-induced myoglobinuria, Dark urine, Acute kidney injury, Oliguria, Elevated hepatic trans... ORPHA:99845
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric... OMIM:271980
Macdermot-Winter Syndrome
Highly arched eyebrow, Hydronephrosis, Frontal upsweep of hair, Low anterior hairline OMIM:247990
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Megacystis, Polyuria OMIM:125800
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Megacystis, Polyuria OMIM:304800
Webb-Dattani Syndrome
Spasticity, Hydronephrosis, Vesicoureteral reflux, Neurogenic bladder OMIM:615926
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:606966
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Renal cortical cysts, Hepatomegaly, Generalized aminoaciduria, Proximal tu... OMIM:231680
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Peritonitis, Anuria, Megacystis, Fetal megacystis, Pyelonephrit... OMIM:619351
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase co... OMIM:619386
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Hemiparesis, Ac... OMIM:235400
Saccharopinuria
Cystinuria, Distal sensory impairment, Citrullinuria, Tremor, Spastic diplegia, Hyperlysinuria, G... ORPHA:3124
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Stage 5 chronic kidney disease, Ren... ORPHA:228302
Cockayne Syndrome
Limb hypertonia, Abnormal renal physiology, Progressive gait ataxia, Splenomegaly, Cerebral atrop... ORPHA:191
Myopathy Due To Malate-Aspartate Shuttle Defect
Red urine OMIM:254960
Hyperbiliverdinemia
Green urine, Decreased liver function, Cholelithiasis, Cholestasis OMIM:614156
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... OMIM:617805
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:567548
Blue Diaper Syndrome
Elevated hepatic transaminase, Blue urine, Nephrocalcinosis ORPHA:94086
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Elevated circulating aspartate aminotransferase concentra... OMIM:300555
Threoninemia
Hyperthreoninuria OMIM:273770
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis, Cirrhosis, Hepatosplenomegaly, Hepatic failure, Portal hypertension OMIM:232500
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Hydroxykynureninuria
Aminoaciduria, Renal tubular dysfunction, Hypertonia OMIM:236800
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Abnormality of extrapyramidal motor function, Fasciculations, Stereotypy, Astro... ORPHA:275864
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Aminoaciduria ORPHA:2278
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:656
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Methylmalonic aciduria, Ventriculomegaly, Cerebral calcification, Aminoaciduria, Microc... ORPHA:1933
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Hydroureter, Megacystis, Hepatic failure, Portal hypertension OMIM:619431
Spinocerebellar Ataxia 42
Impaired vibration sensation at ankles, Babinski sign, Cerebellar atrophy, Urinary urgency, Spast... OMIM:616795
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Abnormal pons morphology, Babinski sign, Cerebellar atrophy, Dysmetria, Lower limb spasticity, Ab... ORPHA:98
5-Oxoprolinase Deficiency
Prolinuria, Increased level of L-pyroglutamic acid in urine, Calcium oxalate nephrolithiasis OMIM:260005
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Hepatomegaly, Hepatic calcification, Myoglobinuria, Tubulointerstitial ne... ORPHA:157
Dicarboxylic Aminoaciduria
Aminoaciduria, Nephrolithiasis, Aspartic aciduria OMIM:222730
Acute Intermittent Porphyria
Urinary retention, Pseudobulbar paralysis, Hepatocellular carcinoma, Dysuria, Porphyrinuria, Resp... ORPHA:79276
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:79238
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Neurogenic bladder OMIM:618527
Hemorrhagic Fever-Renal Syndrome
Decreased urine output, Tubulointerstitial nephritis, Elevated hepatic transaminase, Anuria, Decr... ORPHA:340
Hemolytic Anemia, Congenital, X-Linked
Jaundice, Dark urine OMIM:301015
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Tiglic Acidemia
Aminoaciduria OMIM:275190
Camptodactyly 1
Increased urinary taurine OMIM:114200
Cold Agglutinin Disease
Hepatomegaly, Abnormal urinary color, Splenomegaly ORPHA:56425
Valinemia
Failure to thrive, Valinuria OMIM:277100
Cystathioninuria
Tremor, Cystathioninuria, Nephrolithiasis ORPHA:212
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Ceroid Lipofuscinosis, Neuronal, 7
Neurodegeneration, Cerebellar atrophy, Ataxia, Cerebral atrophy OMIM:610951
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Highly arched eyebrow, Trichorrhexis nodosa, Neurogenic bladder OMIM:619173
Spastic Paraplegia 26, Autosomal Recessive
Dystonia, Babinski sign, Urinary urgency, Frequent falls, Dysmetria, Spastic gait, Lower limb spa... OMIM:609195
Glycogen Storage Disease V
Myoglobinuria, Dark urine OMIM:232600
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the urinary system, Abnormality of the upper urinary tract, Hydrou... ORPHA:2838
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Hydroureter, Fetal megacystis, Megacystis OMIM:619362
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Increased urinary potassium, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, R... OMIM:602522
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Homocarnosinosis
Spastic paraplegia, Carnosinuria OMIM:236130
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Renal tubular dysfunction OMIM:606528
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Generalized aminoaciduria, Hepatocellular necrosis, Depletion of mitochondrial DNA ... OMIM:251880
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Hepatomegaly, Hepatic calcification, Myoglobinuria, Tubulointerstitial ne... ORPHA:228308
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Athetosis, Dystonia, Methylmalonic aciduria, Loss of ability to walk in early childhood, Inabilit... OMIM:612073
Carnosinemia
Carnosinuria OMIM:212200
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Hepatomegaly, Lacticaciduria, Glutaric aciduria, Gliosis, Decreased liver ... ORPHA:26791
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Dandy-Walker malformation, Hepatomegaly, Myoglobinuria, Red-brown urine, Hepatic steatosis, Hepat... ORPHA:228305
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Gracile Syndrome
Aminoaciduria, Cholestasis OMIM:603358
Sarcosinemia
Hypersarcosinuria, Ataxia, Tetraparesis ORPHA:3129
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Gait disturbance, Hepatomeg... ORPHA:436271
Wiedemann-Steiner Syndrome
Dilatation of renal calices, Long eyelashes, Stereotypy, Congenital, generalized hypertrichosis, ... ORPHA:319182
Oculodentodigital Dysplasia
Fine hair, Gait disturbance, Brittle hair, Aplasia/Hypoplasia of the cerebellum, Ataxia, Curly ha... ORPHA:2710
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Dysmyelination With Jaundice
Hydronephrosis, Hydroureter, Cerebral palsy, Hypoplasia of penis, Jaundice OMIM:224250
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Exercise-induced myoglobinuria, Dark urine, Acute kidney injury, Chronic kidney disease, Recurren... ORPHA:368
Aspartylglucosaminuria
Hepatomegaly, Spasticity, Aspartylglucosaminuria, Cerebral atrophy OMIM:208400
Familial Visceral Myopathy
Abdominal situs inversus, Megacystis, Hydroureter, Vesicoureteral reflux ORPHA:2604
Adrenoleukodystrophy
Impaired vibration sensation at ankles, Urinary bladder sphincter dysfunction, Neurodegeneration,... OMIM:300100
Phenylketonuria
Aminoaciduria ORPHA:716
Glycine Encephalopathy
Hyperactivity, Myoclonus, Hyperglycinuria, Lethargy OMIM:605899
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Neurodegeneration, Axonal degeneration, B... OMIM:615157
Histidinuria Due To A Renal Tubular Defect
Histidinuria, Impaired histidine renal tubular absorption OMIM:235830
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Cholangitis, Cerebellar atrophy, Tubulointerstitial nephritis, ... OMIM:124000
Porphyria Due To Ala Dehydratase Deficiency
Increased urinary porphobilinogen, Difficulty walking, Purple urine ORPHA:100924
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Encephalopathy Due To Sulfite Oxidase Deficiency
Spastic tetraparesis, Ataxia, Spasticity, Aminoaciduria, Hemiplegia/hemiparesis ORPHA:833
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Acute hepatic fa... ORPHA:882
Leigh Syndrome
Dystonia, Hypertrichosis, Hepatocellular necrosis, Gliosis, Ataxia, Spasticity OMIM:256000
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Urinary in... OMIM:617145
Oculodentodigital Dysplasia
Fine hair, Dry hair, Paraparesis, Ataxia, Tetraparesis, Spasticity, Slow-growing hair, Sparse hai... OMIM:164200
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Hydronephrosis, Renal agenesis, Cerebellar vermis hypoplasia, Inability to walk... OMIM:618494
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... ORPHA:93101
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Parkinsonism, Dystonia, Cerebellar atrophy, Rigidity, Neurodegeneration, Chorea, Abnormality of e... OMIM:617672
Hyperglycinuria
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Narcolepsy Type 1
Obesity, Transient global amnesia ORPHA:2073
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Myoglobinuria, Hepatic necrosis, Dicarboxylic aciduria, Hepatic steatosis OMIM:231530
Autoimmune Hemolytic Anemia
Abnormal urinary color, Splenomegaly ORPHA:98375
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Splenomegaly ORPHA:90037
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hydronephrosis, Renal agenesis, Sparse eyelashes, Hypoplastic nipples, Urethral stenosis, Sparse ... OMIM:604292
Visceral Myopathy 1
Hydronephrosis, Urinary retention, Megacystis, Pancreatitis, Vesicoureteral reflux OMIM:155310
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Hirsutism, Dilatation of renal calices, Pelvic kidney, Thick eyebrow, Attention deficit hyperacti... ORPHA:466950
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hepatocellular necrosis, Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hep... OMIM:201475
Joubert Syndrome 4
Nephronophthisis, Abnormal renal medulla morphology, Elongated superior cerebellar peduncle, Thic... OMIM:609583
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Gait disturbance, Homocystinuria, Poor coordination, Cerebral atrophy OMIM:250940
Macular Dystrophy, Retinal, 1, North Carolina Type
Generalized aminoaciduria OMIM:136550
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hemoglobinuria, Peritonitis, Anuria, Elevated circulating creatinine concentration, Pancreatitis,... ORPHA:90038
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Cong... OMIM:143400
Spinocerebellar Ataxia 48
Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Chorea, Tremor, Ataxia, Urinary incontine... OMIM:618093
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Dilatation of renal calices, Poor coordination, Pelvic kidney, Attention deficit hyperactivity di... ORPHA:466943
Pediatric Systemic Lupus Erythematosus
Nephrotic syndrome, Abnormality of the urinary system, Hematuria, Nephritis, Alopecia, Dark urine... ORPHA:93552
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux OMIM:618270
Spinocerebellar Ataxia Type 19/22
Impaired vibration sensation at ankles, Cerebellar atrophy, Poor coordination, Cogwheel rigidity,... ORPHA:98772
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, Cognitive impairment, Renal cyst, Obesity, Renal insufficiency, ... OMIM:615993
Coach Syndrome 3
Renal tubular atrophy, Renal interstitial inflammation, Portal fibrosis, Renal interstitial fibro... OMIM:619113
Myopathy, Congenital, Progressive, With Scoliosis
Gait disturbance, Hydronephrosis, Renal atrophy OMIM:618578
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Hepatomegaly, Increased hep... OMIM:220110
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color ORPHA:90036
Bardet-Biedl Syndrome 5
Obesity, Cognitive impairment, Micropenis OMIM:615983
Infection-Related Hemolytic Uremic Syndrome
Decreased urine output, Anuria, Pancreatitis, Hemiparesis, Acute kidney injury, Oliguria, Nephrot... ORPHA:544482
Wilson Disease
Hyperphosphaturia, Dystonia, Renal tubular dysfunction, Hepatomegaly, Aminoaciduria, Poor motor c... OMIM:277900
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy, Gait disturbance, Homocystinuria, Cerebral atrophy OMIM:236270
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Dicarboxylic aciduria, Oliguria, Hepatic failure, Elevated hepatic transaminase, Le... ORPHA:159
Megabladder, Congenital
Fetal megacystis, Stage 5 chronic kidney disease, Patent ductus arteriosus, Hyperechogenic kidney... OMIM:618719
Autoimmune Hemolytic Anemia, Warm Type
Jaundice, Abnormal urinary color, Splenomegaly ORPHA:90033
Posterior Urethral Valve
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... ORPHA:93110
Central Precocious Puberty
Overgrowth, Hypothalamic hamartoma, Increased circulating gonadotropin level, Hydrocephalus, Obes... ORPHA:759
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Tbck-Related Intellectual Disability Syndrome
Hirsutism, Global brain atrophy, Neurogenic bladder, Inability to walk, Thick eyebrow, Synophrys ORPHA:488632
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity, Cognitive impairment OMIM:619058
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Dibasicaminoaciduria, Lethargy OMIM:238750
Microscopic Polyangiitis
Paresthesia, Peritonitis, Hematuria, Pancreatitis, Oliguria, Glomerulopathy, Renal insufficiency ORPHA:727
Bardet-Biedl Syndrome 11
Obesity, Abnormality of the kidney OMIM:615988
Hinman Syndrome
Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Renal insuff... ORPHA:84085
Visceral Myopathy 2
Megacystis OMIM:619350
Motor Neuron Disease With Dementia And Ophthalmoplegia
Degeneration of anterior horn cells, Astrocytosis, Cerebral atrophy OMIM:600333
Aspartylglucosaminuria
Hepatomegaly, Aspartylglucosaminuria, Splenomegaly ORPHA:93
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Hsd10 Disease, Infantile Type
Dystonia, Abnormal concentration of acylcarnitine in the urine, Choreoathetosis, Neurodegeneratio... ORPHA:391428
Cystinosis
Portal hypertension, Gait disturbance, Renal tubular dysfunction, Stereotypy, Nephropathy, Abnorm... ORPHA:213
Williams-Beuren Region Duplication Syndrome
Gait disturbance, Hydronephrosis, Long eyelashes, Horizontal eyebrow, Patent ductus arteriosus, C... OMIM:609757
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Renal salt wasting, Cerebellar atrophy, Renal sodium wasting, Intention tremor, Hypocalciuria, At... OMIM:612780
Leigh Syndrome
Ethylmalonic aciduria, Renal tubular dysfunction, Lacticaciduria, Complex organic aciduria, Nephr... ORPHA:506
Argininosuccinic Aciduria
Oroticaciduria, Trichorrhexis nodosa, Ataxia, Aminoaciduria, Abnormal hair quantity ORPHA:23
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Megacystis, Hydroureter ORPHA:2241
Vesicoureteral Reflux 3
Hydronephrosis, Hydroureter, Vesicoureteral reflux OMIM:613674
Autosomal Recessive Spastic Paraplegia Type 20
Babinski sign, Hydronephrosis, Spastic gait, Dysuria, Spastic dysarthria, Speech apraxia, Impaire... ORPHA:101000
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Athetosis, Chorea, Homocystinuria, Methylmalonic aciduria OMIM:309541
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Hydronephrosis, Hirsutism, Limb hypertonia, Dilatation of renal calices, Wide penis,... ORPHA:3455
Hypertryptophanemia
Tryptophanuria OMIM:600627
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dystonia, Gait disturbance, Hepatomegaly, Rigidity, Micronodular cirrhosis, Bradykinesia, Astrocy... ORPHA:309854
Hyperprolinemia Type 2
Prolinuria, Hydroxyprolinuria, Increased urine alpha-ketoglutarate concentration, Distal sensory ... ORPHA:79101
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Abnormal urinary color ORPHA:90035
Galactosemia I
Hepatomegaly, Aminoaciduria, Increased level of galactitol in urine, Cirrhosis, Decreased liver f... OMIM:230400
Kanzaki Disease
Axonal degeneration, Distal sensory impairment, Cerebral atrophy, Aminoaciduria, Increased urinar... OMIM:609242
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Hypercalcemia, Infantile, 2
Nephrocalcinosis, Renal phosphate wasting, Medullary nephrocalcinosis, Hypercalciuria, Polyuria OMIM:616963
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Oliguria, Renal insufficiency, Pancreatitis ORPHA:188
Congenital Disorder Of Glycosylation, Type Iif
Ataxia, Aminoaciduria, Proteinuria OMIM:603585
Machado-Joseph Disease
Dystonia, Babinski sign, Cerebellar atrophy, Urinary bladder sphincter dysfunction, Rigidity, Dil... OMIM:109150
Mitochondrial Complex I Deficiency, Nuclear Type 18
Myoclonus, Hydronephrosis, Hydroureter OMIM:618240
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Brittle hair, Splenomegaly, Ataxia, Cerebral atrophy, Aminoaciduria OMIM:616084
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Polyuria, Periglom... OMIM:619468
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Aminoaciduria, Inability to walk, Hydronephrosis OMIM:617913
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney ORPHA:195
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Hepatic necrosis, Dicarboxylic aciduria, Hepatic steatosis, Acute hepatic failure,... ORPHA:71212
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ataxia, Aminoaciduria OMIM:249270
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Glutamate Formiminotransferase Deficiency
Aminoaciduria OMIM:229100
Urofacial Syndrome 1
Urethral valve, Hydronephrosis, Recurrent urinary tract infections, Enuresis, Urethral obstructio... OMIM:236730
Gapo Syndrome
Hepatomegaly, Sparse eyelashes, Hypoplastic nipples, Sparse hair, Tubulointerstitial fibrosis, Sp... OMIM:230740
Argininemia
Hemiplegia/hemiparesis, Diaminoaciduria, Progressive spastic quadriplegia ORPHA:90
Argininemia
Hepatomegaly, Cerebellar atrophy, Oroticaciduria, Portal fibrosis, Frequent falls, Spastic gait, ... OMIM:207800
Dent Disease 1
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Glycos... OMIM:300009
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Cerebellar atrophy, Rigidity, Neurodegeneration, Abnormality of extrapyramidal motor fu... OMIM:300894
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
8P23.1 Duplication Syndrome
Highly arched eyebrow, Hydronephrosis ORPHA:251076
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Lethargy OMIM:143880
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Hydronephrosis, Cerebellar atrophy, Cerebral atrophy, Renal insufficiency OMIM:611209
Trisomy 5P
Obesity, Hypoplasia of penis, Renal hypoplasia/aplasia, Ventriculomegaly ORPHA:1742
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Hydronephrosis, Renal dysplasia, Renal cyst, Micropenis, Cerebellar hy... OMIM:615287
Methionine Malabsorption Syndrome
White hair, Aminoaciduria OMIM:250900
D-Glyceric Aciduria
Opisthotonus, Myoclonus, Spastic tetraplegia, Aminoaciduria, Cerebral cortical atrophy OMIM:220120
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Gait disturbance, Rigidity, Neurodegeneration, Oromandibular dystonia, Bradykinesia, Sp... OMIM:615643
Spastic Paraplegia 79, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Head titubation, Dysmetria, Neurodegeneration, Fasciculations,... OMIM:615491
Hereditary Xanthinuria
Hydronephrosis, Decreased urinary urate, Increased urinary hypoxanthine, Xanthine nephrolithiasis... ORPHA:3467
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:606996
D-Glyceric Aciduria
Chorea, Myoclonus, Brain atrophy, Hyperglycinuria, Spasticity ORPHA:941
Leber Congenital Amaurosis 1
Hepatomegaly, Hyperthreoninuria, Eye poking OMIM:204000
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Nephrocalcinosis, Glycosuria, Large for gestational age, Aminoaciduria, Protei... OMIM:616026
Ethylene Glycol Poisoning
Renal tubular dysfunction, Decreased urine output, Hematuria, Myoclonus, Ataxia, Renal tubular ep... ORPHA:31826
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Nephrocalci... ORPHA:2088
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria ORPHA:147
Focal Cortical Dysplasia, Type Ii
Hemiparesis, Astrocytosis OMIM:607341
Netherton Syndrome
Fine hair, Hydronephrosis, Sparse eyelashes, Abnormal hair morphology, Sparse and thin eyebrow, S... ORPHA:634
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Hypercalciuria, Renal insufficiency OMIM:613388
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthinuria, Absent urinary urothione, Increased urinary thiosulfate, Decreased urinary urate, In... OMIM:252150
Joubert Syndrome 37
Hepatomegaly, Hydronephrosis, Oculomotor apraxia, Cerebellar vermis hypoplasia, Micropenis, Spars... OMIM:619185
6P22 Microdeletion Syndrome
Hydronephrosis, Patent ductus arteriosus ORPHA:251046
Tryptophanuria With Dwarfism
Ataxia, Gait disturbance, Tryptophanuria OMIM:276100
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Cystinuria ORPHA:163690
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Sacral Defect With Anterior Meningocele
Urinary retention, Neurogenic bladder OMIM:600145
Combined Oxidative Phosphorylation Deficiency 15
Obesity, Cognitive impairment, Microcephaly, Abnormal cerebral white matter morphology OMIM:614947
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Multiple System Atrophy 1, Susceptibility To
Babinski sign, Urinary urgency, Rigidity, Neurodegeneration, Bradykinesia, Tremor, Ataxia, Urinar... OMIM:146500
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Alaninuria, Microcephaly OMIM:202900
Yellow Fever
Anuria, Elevated circulating creatinine concentration, Elevated circulating aspartate aminotransf... ORPHA:99829
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Lacticaciduria, Glycosuria, Aminoaciduria, Proteinuria, Renal insuffic... OMIM:134600
2P21 Microdeletion Syndrome
Long eyelashes, Nephrolithiasis, Cystinuria ORPHA:163693
Spinocerebellar Ataxia Type 8
Dystonia, Cerebellar atrophy, Rigidity, Hypoplasia of the pons, Spastic dysarthria, Bradykinesia,... ORPHA:98760
Recombinant Chromosome 8 Syndrome
Hydronephrosis, Patent ductus arteriosus, Hypertonia, Cerebral atrophy, Low posterior hairline OMIM:179613
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease OMIM:613390
Bladder Diverticulum
Urethral sphincter sclerosis, Urinary hesitancy, Hematuria, Dysuria, Recurrent urinary tract infe... OMIM:109820
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hepatocellular carcinoma, Nephrocalcinosis, Increased hepatic glycogen content, Tub... ORPHA:79259
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... ORPHA:731
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis, Cerebellar atrophy, Neurodegeneration, Neuronal loss in centr... OMIM:616239
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Neurodegeneration, Neuronal loss in central nervous system, Gliosis, Spastic ... OMIM:256600
Argininosuccinic Aciduria
Hepatomegaly, Oroticaciduria, Dry hair, Hepatic fibrosis, Brittle hair, Trichorrhexis nodosa, Ata... OMIM:207900
Rowley-Rosenberg Syndrome
Aminoaciduria OMIM:268500
Muscular Dystrophy, Cardiac Type
Carnosinuria OMIM:309930
Ochoa Syndrome
Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral reflux, ... ORPHA:2704
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Dystonia, Methylmalonic aciduria, Homocystinuria, Spastic ataxia, Cerebral cortical atrophy, Leth... OMIM:277410
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity, Hypoplasia of the corpus callosum, Ventriculomegaly ORPHA:521390
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Neurodegeneration, Cerebellar atrophy, Gait ataxia ORPHA:438134
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Proximal tubulopathy, Myoclonus, Ataxia, Polyuria OMIM:560000
Split Cord Malformation
Hypospadias, Horseshoe kidney, Hydronephrosis, Chiari malformation, Hypertrichosis, Detrusor sphi... ORPHA:573278
Bardet-Biedl Syndrome 6
Hypospadias, Obesity, Renal cyst OMIM:605231
Distal Trisomy 6P
Fine hair, Renal hypoplasia, Hydronephrosis, Abnormality of the urinary system, Abnormal eyelash ... ORPHA:1745
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Splenomegaly ORPHA:664
Lassa Fever
Oliguria, Jaundice ORPHA:99824
Wolfram Syndrome 2
Neurogenic bladder OMIM:604928
Hemochromatosis, Neonatal
Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Cholestasis, Hepatic failure, Prolonged neo... OMIM:231100
Tetraploidy
Renal hypoplasia/aplasia, Hydronephrosis, Chiari malformation ORPHA:3305
Dermotrichic Syndrome
Nail dystrophy, Aminoaciduria ORPHA:99688
Currarino Syndrome
Horseshoe kidney, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral reflux... OMIM:176450
Spondyloenchondrodysplasia With Immune Dysregulation
Spastic diplegia, Tubulointerstitial fibrosis, Spasticity, Progressive spastic quadriplegia OMIM:607944
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Hydronephrosis, Cerebellar atrophy, Choreoathetosis, Renal dysplasia, Paten... OMIM:614080
Mirizzi Syndrome
Gallbladder perforation, Cholelithiasis, Pancreatitis, Dark urine, Cholesterol gallstones, Abnorm... ORPHA:521219
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Aminoaciduria, Proteinuria, Glycosuria OMIM:615605
Molybdenum Cofactor Deficiency, Complementation Group B
Opisthotonus, Increased urinary hypoxanthine, Xanthine nephrolithiasis, Myoclonic spasms, Gliosis... OMIM:252160
Hepatoerythropoietic Porphyria
Paresthesia, Purple urine, Red-brown urine, Facial hypertrichosis, Scarring alopecia of scalp, Sp... ORPHA:95159
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Gait disturbance, Dystonia, Myoglobinuria, Clonus, Poor coordination, Neurodegeneration, Spastic ... OMIM:616878
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal... OMIM:260000
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis, Sparse hair, Spasticity OMIM:616449
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria OMIM:233100
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Renal insufficiency ORPHA:220393
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypermagnesiuria, Obesity, Microcephaly, Ventriculomegaly ORPHA:34527
Acute Monoblastic/Monocytic Leukemia
Oliguria ORPHA:514
X-Linked Intellectual Disability Due To Gria3 Mutations
Babinski sign, Hydronephrosis, Myoclonus, Cerebellar vermis hypoplasia, Micropenis, Spasticity, P... ORPHA:364028
Biemond Syndrome Type 2
Hypospadias, Obesity, Hydrocephalus ORPHA:141333
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Acute kidney injury, Decreased urine output, Elevated circulating ... ORPHA:542323
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity, Renal potassium wasting, Polyuria, Renal magnesium wasting OMIM:618314
Xanthinuria, Type I
Xanthinuria, Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis OMIM:278300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lethargy, Hepatomegaly, Ureteral duplication, Hydronephrosis, Hepatic calcification, Lipid accumu... OMIM:608836
Takenouchi-Kosaki Syndrome
Hypospadias, Highly arched eyebrow, Hydronephrosis, Cerebellar atrophy, Sparse eyebrow, Patent du... OMIM:616737
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia, 3-Methylglutaric aciduria OMIM:250951
Mehmo Syndrome
Small for gestational age, Ventriculomegaly, Micropenis, Obesity, Decreased response to growth ho... OMIM:300148
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Acute Liver Failure
Hepatocellular necrosis, Hepatitis, Hepatic necrosis, Ataxia, Acute kidney injury, Slurred speech... ORPHA:90062
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Vesicoureteral reflux OMIM:618265
Sepsis In Premature Infants
Hepatomegaly, Reversible renal failure, Splenomegaly, Decreased liver function, Oliguria, Jaundice ORPHA:90051
Joubert Syndrome 6
Hepatic fibrosis, Nephronophthisis, Bile duct proliferation, Stage 5 chronic kidney disease, Thic... OMIM:610688
Canavan Disease
Elevated urinary N-acetylaspartic acid level, Brain atrophy, Opisthotonus OMIM:271900
Lujo Hemorrhagic Fever
Fulminant hepatitis, Microscopic hematuria, Resting tremor, Oliguria, Elevated hepatic transamina... ORPHA:319213
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Medium chain dicarboxylic aciduria, Hepatic steatosis, Hyperglycinuria, Elevated he... OMIM:201450
Trisomy 13
Hydronephrosis, Chiari malformation, Abnormality of the ureter, Patent ductus arteriosus, Displac... ORPHA:3378
Diabetic Embryopathy
Ureteral duplication, Hydronephrosis, Abnormality of the pancreas, Renal hypoplasia/aplasia, Micr... ORPHA:1926
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cystathioninuria, Methylmalonic aciduria, Hematuria, Homocystinuria, Hemolytic-uremic syndrome, A... OMIM:277400
Spastic Paraplegia 11, Autosomal Recessive
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence, Mental deterioratio... OMIM:604360
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis, Limb hypertonia OMIM:616973
Frontometaphyseal Dysplasia 2
Hirsutism, Low anterior hairline, Patent ductus arteriosus, Thick eyebrow, Neurogenic bladder OMIM:617137
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Hydronephrosis, Ureteral atresia OMIM:183802
Lethal Congenital Contracture Syndrome 2
Hydronephrosis, Akinesia OMIM:607598
Neurodegeneration With Brain Iron Accumulation 1
Parkinsonism, Gait disturbance, Cerebral degeneration, Dystonia, Rigidity, Choreoathetosis, Eyeli... OMIM:234200
Familial Expansile Osteolysis
Hydroxyprolinuria OMIM:174810
Lymphangioleiomyomatosis
Hematuria, Renal angiomyolipoma, Multiple renal cysts, Renal neoplasm, Abnormal urinary color ORPHA:538
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Homocystinuria, Methylmalonic aciduria, Cerebral atrophy OMIM:614857
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hydronephrosis, Polyuria OMIM:304900
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Failure to thrive, Large for gestational age, Polymicrogyria, Aminoaciduria, Ketonuria OMIM:614520
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Hydronephrosis, Abnormality of the ureter, Abnormality of the urinary ... ORPHA:1834
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Dystonia, Babinski sign, Gait imbalance, Urinary bladder sphincter dysfunction, ... ORPHA:64753
Hereditary Orotic Aciduria
Abnormality of the ureter, Oroticaciduria, Orotic acid crystalluria, Patent ductus arteriosus, Sp... ORPHA:30
Mental Retardation, Autosomal Dominant 48
Hypospadias, Highly arched eyebrow, Dysgenesis of the cerebellar vermis, Dilated fourth ventricle... OMIM:617751
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Hydronephrosis, Highly arched eyebrow, Atrophy/Degeneration affecting the brain... OMIM:618454
Hyperlysinemia
Clumsiness, Argininuria, Thin eyebrow, Opisthotonus, Poor motor coordination, Dysmetria, Cystinur... ORPHA:2203
Bardet-Biedl Syndrome 8
Hypospadias, Obesity, Cognitive impairment, Renal dysplasia OMIM:615985
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Upper limb spasticity, Cerebellar dysplasia, Gliosis, Stereotypy, Tremor, Micro... ORPHA:457240
East Syndrome
Renal salt wasting, Cerebellar atrophy, Renal sodium wasting, Ataxia, Inability to walk, Action t... ORPHA:199343
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Inability to walk, Hydronephrosis, Limb hypertonia ORPHA:488613
8P Inverted Duplication/Deletion Syndrome
Dandy-Walker malformation, Hydronephrosis, Frontal balding, Abnormality of the urinary system, Ap... ORPHA:96092
Richards-Rundle Syndrome
Ataxia, Hypertonia, Gait disturbance, Ketonuria ORPHA:1399
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Babinski sign, Rigidity, Choreoathetosis, Writer's cramp, Neurodegeneration, Chorea, Br... OMIM:606159
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Gait disturbance, Homocystinuria, Lower limb spasticity, Atrophy of the spinal cord, Hemiparesis,... ORPHA:395
Micro Syndrome
Hydronephrosis, Abnormal localization of kidney, Cerebellar vermis hypoplasia, Generalized hirsut... ORPHA:2510
Prune Belly Syndrome
Urethral valve, Hydronephrosis, Congenital posterior urethral valve, Patent ductus arteriosus, Hy... OMIM:100100
Distal Renal Tubular Acidosis
Paralysis, Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Decreased gl... ORPHA:18
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Hepatomegaly, Hydronephrosis, Hirsutism, Global brain atrophy, Duplicated collecting... OMIM:301056
Ritscher-Schinzel Syndrome 1
Hypospadias, Low posterior hairline, Hydronephrosis, Dandy-Walker malformation OMIM:220210
Cholera
Abnormality of renal excretion, Acute kidney injury, Decreased urine output, Lethargy ORPHA:173
22Q11.2 Duplication Syndrome
Hydronephrosis, Urethral stenosis, Stereotypy, Displacement of the urethral meatus, Attention def... ORPHA:1727
Porphyria, Congenital Erythropoietic
Hypertrichosis, Pink urine, Alopecia, Absent eyebrow, Cholelithiasis, Splenomegaly, Loss of eyela... OMIM:263700
Congenital Erythropoietic Porphyria
Paresthesia, Purple urine, Red-brown urine, Facial hypertrichosis, Porphyrinuria, Scarring alopec... ORPHA:79277
Chromosome 2P16.1-P15 Deletion Syndrome
Hydronephrosis, Hypoplasia of the pons, Micropenis, Spasticity, Cerebral atrophy, Attention defic... OMIM:612513
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux OMIM:613735
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Spastic diplegia, Hydronephrosis, Patent ductus arteriosus OMIM:300048
Gitelman Syndrome
Paralysis, Paresthesia, Hypocalciuria, Ataxia, Renal potassium wasting, Enuresis, Polyuria, Noctu... OMIM:263800
Propionic Acidemia
Dystonia, Hepatomegaly, Limb hypertonia, Pancreatitis, Increased level of hippuric acid in urine,... OMIM:606054
Molybdenum Cofactor Deficiency, Complementation Group C
Opisthotonus, Hypoplasia of the pons, Increased urinary taurine, Hypertonia, Cerebellar hypoplasi... OMIM:615501
Capillary Malformation-Arteriovenous Malformation
Neurogenic bladder ORPHA:137667
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria, Abnormal hair morphology ORPHA:414
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria, Sparse hair, Hypoplastic nipples OMIM:273400
Hypomagnesemia 3, Renal
Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolithiasis, Hypo... OMIM:248250
Nephronophthisis 11
Renal tubular atrophy, Hepatic fibrosis, Nephronophthisis, Renal corticomedullary cysts, Stage 5 ... OMIM:613550
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Intrahepatic biliary dysgenesis, Polycystic kidney dysplasia, Aminoaciduria, Jaundice OMIM:214110
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Argininosuccinic ... OMIM:603471
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Colchicine Poisoning
Oliguria, Alopecia, Renal insufficiency ORPHA:31824
9Q21.13 Microdeletion Syndrome
Hydronephrosis, Difficulty walking ORPHA:531151
Trisomy 20P
Hypospadias, Gait disturbance, Hydronephrosis, Abnormality of the ureter, Highly arched eyebrow, ... ORPHA:261318
Trisomy 17P
Urethral valve, Hydronephrosis, Broad eyebrow, Urethral stenosis, Patent ductus arteriosus, Polyc... ORPHA:261290
Erdheim-Chester Disease
Hydronephrosis, Retroperitoneal fibrosis, Dysuria, Ataxia, Renal insufficiency, Abnormal cerebell... ORPHA:35687
Exercise-Induced Malignant Hyperthermia
Decreased liver function, Ataxia, Acute kidney injury, Oliguria, Hepatic failure, Lethargy ORPHA:466650
Intellectual Disability, Buenos-Aires Type
Fine hair, Spastic gait, Hydronephrosis ORPHA:3079
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Athetosis, Dystonia, Hepatomegaly, Cerebellar atrophy, Generalized aminoaciduria, Lingual dystoni... ORPHA:404454
Neurodegeneration With Brain Iron Accumulation 4
Gait disturbance, Dystonia, Cerebellar atrophy, Babinski sign, Neurodegeneration, Oromandibular d... OMIM:614298
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria, Biliary hyperplasia, Aminoacidu... OMIM:210550
Hypotonia-Cystinuria Syndrome
Long eyelashes, Cystinuria, Nephrolithiasis OMIM:606407
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Bor Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junction ob... ORPHA:107
Glutaric Acidemia Type 3
Failure to thrive, Glutaric aciduria, Abnormal cerebral white matter morphology, Abnormal periven... ORPHA:35706
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Biliary, Renal, Neurologic, And Skeletal Syndrome
Patent ductus arteriosus, Splenomegaly, Medullary nephrocalcinosis, Prolonged neonatal jaundice, ... OMIM:619534
Type 1 Diabetes Mellitus
Polyuria OMIM:222100
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Hepatomegaly, Aminoaciduria, Splenomegaly, Hypercalciuria, Polyuria OMIM:239200
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hydronephrosis, Urinary bladder inflammation, Aplasia of the bladder, Renal dysplasia, Hematuria,... ORPHA:79403
Bardet-Biedl Syndrome 19
Obesity, Renal insufficiency OMIM:615996
Senior-Loken Syndrome 3
Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enuresis, Polyuria OMIM:606995
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Hepatomegaly, Hydronephrosis, Intrahepatic biliary dysgenesis, Patent ductus arterio... OMIM:214100
Igg4-Related Retroperitoneal Fibrosis
Hydronephrosis, Nephrotic syndrome, Renovascular hypertension, Membranous nephropathy, Hematuria,... ORPHA:49041
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatosplenomegaly, Reduced renal corticomedullary d... ORPHA:84081
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hydronephrosis, Hepatic fibrosis, Duplicated collecting system, Hepatic steatosis, Hepatosplenome... ORPHA:541423
Infantile Nephropathic Cystinosis
Renal Fanconi syndrome, Hyperphosphaturia, Renal tubular dysfunction, Failure to thrive, Cognitiv... ORPHA:411629
Fumarase Deficiency
Aminoaciduria, Cholestasis, Hepatic failure, Cerebral atrophy OMIM:606812
Suleiman-El-Hattab Syndrome
Highly arched eyebrow, Hydronephrosis, Hirsutism, Frontal hirsutism, Thick eyebrow, Synophrys OMIM:618950
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Neurodegeneration, Chorea, Bradykinesia, ... OMIM:610217
Summitt Syndrome
Obesity OMIM:272350
Bardet-Biedl Syndrome 17
Poor coordination, Renal cyst, Stage 5 chronic kidney disease, Micropenis, Polyuria OMIM:615994
Isovaleric Acidemia
Hyperglycinuria, Lethargy OMIM:243500
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Highly arched eyebrow, Hydronephrosis, Abnormal hair pattern, Hypertonia, Hypoplasia of penis ORPHA:2083
2P15P16.1 Microdeletion Syndrome
Fine hair, Gait disturbance, Hydronephrosis, Long eyelashes, Lower limb spasticity, Multicystic k... ORPHA:261349
Obesity Due To Sim1 Deficiency
Obesity, Cognitive impairment, Memory impairment ORPHA:369873
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Endove Syndrome, Limb-Only Type
Hydronephrosis, Vesicoureteral reflux OMIM:619217
Orofaciodigital Syndrome Type 1
Dandy-Walker malformation, Dystonia, Hydronephrosis, Sparse hair, Pancreatic cysts, Brittle hair,... ORPHA:2750
Macrosomia Adiposa Congenita
Obesity, Large for gestational age OMIM:248100
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Hydrocephalus, Azoospermia ORPHA:2183
Hyperphosphatasia-Intellectual Disability Syndrome
Gait disturbance, Hydronephrosis, Highly arched eyebrow, Myoclonus, Ataxia, Oculomotor apraxia, S... ORPHA:247262
Hyperostosis Frontalis Interna
Obesity, Increased circulating prolactin concentration OMIM:144800
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Chronic kidney disease, Retroperitoneal fibrosis, Renal interstitia... ORPHA:449395
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Micropenis, Cerebellar hypoplasia, Hydronephrosis OMIM:616897
Tarp Syndrome
Horseshoe kidney, Hydronephrosis, Cerebellar vermis hypoplasia, Cerebellar hypoplasia OMIM:311900
Kleefstra Syndrome
Hypospadias, Highly arched eyebrow, Hydronephrosis, Synophrys, Renal cyst, Stereotypy, Micropenis... ORPHA:261494
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Proteinuria, Hyperechogenic kidneys, Renal salt wasting, Polyuria OMIM:613845
7Q11.23 Microduplication Syndrome
Hypospadias, Hydronephrosis, Dysmetria, Long eyelashes, Horizontal eyebrow, Stereotypy, Patent du... ORPHA:96121
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Head titubation, Cerebellar dysplasia, Dilated fourth ventricle, Inferior vermis... ORPHA:370022
Juvenile Nephropathic Cystinosis
Renal Fanconi syndrome, Proximal tubulopathy, Elevated circulating creatinine concentration, Stag... ORPHA:411634
Epidermolysis Bullosa Simplex With Pyloric Atresia
Hydronephrosis, Aplasia of the bladder, Abnormality of the urinary system, Renal dysplasia, Nail ... ORPHA:158684
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Hydronephrosis, Patent ductus arteriosus, Cerebellar vermis hypoplasia, Hyperto... OMIM:618460
Encephalocraniocutaneous Lipomatosis
Dandy-Walker malformation, Hydronephrosis, Pelvic kidney, Alopecia, Cerebellar hypoplasia OMIM:613001
Cardiogenic Shock
Oliguria, Elevated circulating creatinine concentration ORPHA:97292
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Cystathioninuria, Methylmalonic aciduria, Homocystinuria, Incoordination, Lethargy OMIM:277380
Richards-Rundle Syndrome
Atrophy of the spinal cord, Ataxia, Ketonuria OMIM:245100
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Ketonuria, Opisthotonus, Alopecia, Hyperglycinuria, Organic aciduria, Lethargy OMIM:210210
Crome Syndrome
Cerebellar dysplasia, Renal tubular epithelial necrosis OMIM:218900
Fructose Intolerance, Hereditary
Hyperphosphaturia, Hepatomegaly, Transient aminoaciduria, Proximal tubulopathy, Proximal renal tu... OMIM:229600
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis, Glycosuria, Ketonuria OMIM:618857
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis, Male urethral meatus stenosis, Sparse eyebrow, Cholelithiasis, Inabi... ORPHA:464738
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 <