Gene Summary

Name:
heparanase 2
Synonyms:
N/A

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Hpse2em1(IMPC)J HOM   Early adult 0.00
cataract Hpse2em1(IMPC)J HET   Early adult 1.99×10-06
impaired pupillary reflex Hpse2em1(IMPC)J HET Early adult 1.77×10-07
hyperactivity Hpse2em1(IMPC)J HET   Early adult 9.47×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

Auditory Brain Stem Response

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

6 Images

Human diseases caused by Hpse2 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 Hpse2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Hpse2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Cataract ORPHA:1397
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Acquired Central Diabetes Insipidus
Weight loss, Pollakisuria ORPHA:95626
Primary Hyperoxaluria Type 3
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... ORPHA:93600
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... OMIM:614131
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbumi... OMIM:617609
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Stage 5 chronic kidney dis... ORPHA:54370
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... OMIM:615573
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hyperlipidemia, Nephrotic syndrome, Stage 5 chronic kidney di... OMIM:600995
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Interstitial Cystitis
Urinary bladder inflammation, Urinary urgency, Pollakisuria, Pain, Functional abnormality of the ... ORPHA:37202
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Adrenomyodystrophy
Abnormal intestine morphology, Short stature, Abnormality of the urinary system, Failure to thriv... ORPHA:977
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Pudendal Neuralgia
Pollakisuria, Dysuria, Back pain, Episodic abdominal pain, Vulvodynia, Abdominal colic, Scrotal pain ORPHA:60039
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Limb ataxia, Cataract OMIM:617133
Pentosuria
Abnormality of circulating enzyme level, Abnormal urine carbohydrate level, Abnormal circulating ... ORPHA:2843
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Megacystis, Volvulus, Es... OMIM:619350
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperlipidemia, Stage 5 chronic kidney disease, Hypoalbuminem... OMIM:603278
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the gastrointestinal tract, Functional abnormality of the bladder ORPHA:100997
Lower Urinary Tract Obstruction, Congenital
Urethral stenosis, Congenital posterior urethral valve, Pollakisuria, Urinary incontinence, Vesic... OMIM:618612
Spastic Paraplegia 13, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:605280
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... OMIM:618349
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Hypoproteinemia, Pyloric stenosis, Growth delay, Hyperlipidemia, Small for... OMIM:256300
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Hypoalbumine... ORPHA:84090
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Spastic Paraplegia 12, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:604805
Aniridia 3
Cataract OMIM:617142
Galloway-Mowat Syndrome 6
High palate, Short stature, Nephrotic syndrome, Hypoalbuminemia, Decreased body weight, Proteinuria OMIM:618347
Galactosemia I
Hypergalactosemia, Aminoaciduria, Increased level of galactitol in urine, Failure to thrive, Incr... OMIM:230400
Spastic Paraplegia 19, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:607152
Hyperprolinemia Type 1
Prolinuria, Hyperprolinemia, Proteinuria, Nephropathy ORPHA:419
Spastic Paraplegia 72, Autosomal Recessive
Urinary bladder sphincter dysfunction OMIM:615625
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Short stature, Hypernatremia, Failure to thrive, Megacystis, Polyuria OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Short stature, Hypernatremia, Failure to thrive, Megacystis, Polyuria OMIM:304800
Immunodeficiency 8
Hyperactivity OMIM:615401
Lipoprotein Glomerulopathy
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Autosomal Recessive Spastic Paraplegia Type 48
Elevated circulating creatine kinase concentration, Urinary incontinence, Urinary bladder sphinct... ORPHA:306511
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Tubulointerstitial fibrosis, Hypoalbumine... OMIM:614196
3-Methylglutaconic Aciduria, Type Ix
Failure to thrive, 3-Methylglutaconic aciduria, Urinary incontinence OMIM:617698
Spastic Paraplegia 37, Autosomal Dominant
Urinary incontinence, Urinary urgency OMIM:611945
Spastic Paraplegia 8, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:603563
Spastic Paraplegia 41, Autosomal Dominant
Urinary urgency OMIM:613364
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... OMIM:610725
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Autosomal Dominant Spastic Paraplegia Type 13
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction ORPHA:100994
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Thin glomerular basement membrane, Hypoalbuminemia, Chronic kidney disease, D... OMIM:615244
Enuresis, Nocturnal, 1
Enuresis nocturna OMIM:600631
Enuresis, Nocturnal, 2
Enuresis nocturna OMIM:600808
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Urinary incontinence, Urinary urgency OMIM:156310
Spastic Paraplegia 83, Autosomal Recessive
Myalgia, Dysphagia, Urinary urgency OMIM:619027
Spastic Paraplegia 36, Autosomal Dominant
Urinary incontinence, Urinary urgency OMIM:613096
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Spastic Paraplegia 27, Autosomal Recessive
Spastic/hyperactive bladder OMIM:609041
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Urinary bladder sphincter dysfunction ORPHA:284282
Spastic Paraplegia 6, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:600363
3-Methylglutaconic Aciduria Type 9
Failure to thrive, 3-Methylglutaconic aciduria, Urinary incontinence, Slender build ORPHA:505216
Spastic Paraplegia 10, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:604187
Autosomal Recessive Spastic Paraplegia Type 9B
Growth delay, Short stature, Urinary retention, Pollakisuria, Impaired continence ORPHA:447760
Spastic Paraplegia 3, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:182600
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration OMIM:616311
Spastic Paraplegia, Ataxia, And Mental Retardation
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:607565
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Megacystis, Nephrolithiasis, Recurrent urinary tract infections, Fetal pyelectasis, Hypoperistalsis OMIM:619365
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy, Spastic ataxia OMIM:271320
Spastic Paraplegia-Nephritis-Deafness Syndrome
Proteinuria, Nephropathy, Severe short stature ORPHA:2820
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Intellectual Developmental Disorder, X-Linked 29
Urinary incontinence OMIM:300419
Autosomal Recessive Spastic Paraplegia Type 27
Spastic/hyperactive bladder ORPHA:101007
Spastic Paraparesis And Deafness
Tremor, Cataract OMIM:312910
Retinitis Pigmentosa 84
Macular coloboma, Macular atrophy, Cataract, Rod-cone dystrophy OMIM:618220
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Autosomal Dominant Spastic Paraplegia Type 73
Urinary incontinence, Urinary urgency ORPHA:444099
Nail-Patella-Like Renal Disease
Short stature, Microscopic hematuria, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2613
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... OMIM:161900
Spastic Paraplegia 4, Autosomal Dominant
Low back pain, Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:182601
Siddiqi Syndrome
Urinary incontinence OMIM:618635
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Hyperlipidemia, Failure to thrive, Hypercholesterolemia, Hypoalbuminemia, Protei... OMIM:615863
Autosomal Dominant Spastic Paraplegia Type 4
Urinary urgency, Urinary bladder sphincter dysfunction ORPHA:100985
Morm Syndrome
Hyperactivity, Retinal dystrophy, Cataract, Retinal atrophy ORPHA:75858
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Growth delay,... ORPHA:567548
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Short stature, Stage 5 chronic kidney disease, Steroid-resist... OMIM:618176
Spinocerebellar Ataxia 48
Urinary incontinence, Dysphagia, Cachexia OMIM:618093
Trichomegaly
Cataract OMIM:190330
Preeclampsia
Intrauterine growth retardation, Small for gestational age, Helicobacter pylori infection, Elevat... ORPHA:275555
Autosomal Dominant Spastic Paraplegia Type 9A
Urinary urgency, Pollakisuria, Urinary incontinence, Lower limb pain, Low back pain ORPHA:447753
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Focal segmental glomerulosclerosis, Cleft palate, High palate, Minimal cha... OMIM:616730
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria... OMIM:137950
Spastic Paraplegia 31, Autosomal Dominant
Dysphagia, Urinary urgency OMIM:610250
Dysequilibrium Syndrome
Gait disturbance, Ataxia, Cataract ORPHA:1766
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Short stature, Nephrocalcinosis, Proxi... OMIM:308990
Homozygous 11P15-P14 Deletion Syndrome
Abnormal intestine morphology, Generalized aminoaciduria, Renal tubular dysfunction, Hypoglycemia... OMIM:606528
Spastic Paraplegia 80, Autosomal Dominant
Urinary urgency OMIM:618418
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Acute Zonal Occult Outer Retinopathy
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... ORPHA:284454
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia, Aciduria OMIM:617950
Spastic Paraplegia 16, X-Linked
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:300266
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Elevated circulating creatine kinase concentration, Pollakisuria, Dysphagia ORPHA:268
Spastic Paraplegia 11, Autosomal Recessive
Dysphagia, Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence, Obesity OMIM:604360
Autosomal Dominant Spastic Paraplegia Type 36
Urinary incontinence, Urinary urgency ORPHA:320365
Apnea, Central Sleep
Urinary incontinence OMIM:207720
Visceral Myopathy 1
Hydronephrosis, Dysphagia, Aganglionic megacolon, Megaduodenum, Urinary retention, Intestinal pse... OMIM:155310
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder ORPHA:488594
Spastic Paraplegia 29, Autosomal Dominant
Urinary urgency, Urinary hesitancy, Neonatal hyperbilirubinemia, Urinary incontinence, Hiatus her... OMIM:609727
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Hypoglycemia, Nephrotic syndrome, Stage 5 chronic kidney dise... OMIM:617575
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Abnormal circulating lipid concentration, Hematuria, Diabetes mellitus, Membr... OMIM:608709
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Multiple Sclerosis, Susceptibility To
Urinary incontinence, Urinary hesitancy OMIM:126200
Preeclampsia/Eclampsia 1
Proteinuria, Intrauterine growth retardation OMIM:189800
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Stage 5 chron... ORPHA:656
Autosomal Spastic Paraplegia Type 72
Pain, Urinary bladder sphincter dysfunction ORPHA:401849
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Baralle-Macken Syndrome
Obesity, Urinary incontinence, High, narrow palate OMIM:619255
Maternally-Inherited Diabetes And Deafness
Type II diabetes mellitus, Abnormal circulating lipid concentration, Malabsorption, Myalgia, Glom... ORPHA:225
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Arthralgi... OMIM:613944
Autosomal Recessive Frontotemporal Pachygyria
Urinary incontinence ORPHA:329329
Autosomal Dominant Spastic Paraplegia Type 6
Urinary incontinence ORPHA:100988
Bardet-Biedl Syndrome 18
Retinal dystrophy, Cataract, Rod-cone dystrophy OMIM:615995
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Nathalie Syndrome
Cataract ORPHA:2663
Wagner Vitreoretinopathy
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
Carcinoma Of Esophagus
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Weight loss, Barrett esophagus, Ob... ORPHA:70482
Insulin-Resistance Syndrome Type B
Fasting hypoglycemia, Abnormality of body weight, Insulin-resistant diabetes mellitus, Fasting hy... ORPHA:2298
Alg1-Cdg
Hypoalbuminemia, Nephrotic syndrome, Abnormality of the gastrointestinal tract, Protein-losing en... ORPHA:79327
Spastic Paraplegia 48, Autosomal Recessive
Urinary incontinence OMIM:613647
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Urinary incontinence OMIM:616688
Coats Disease
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... ORPHA:190
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Short stature, Medullary nephrocalcinosis, Re... OMIM:611555
Al Amyloidosis
Abnormal salivary gland morphology, Dysphagia, Nephrotic syndrome, Macroglossia, Xerostomia, Weig... ORPHA:85443
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... OMIM:618177
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Growth delay, Short stature, Hyperlipidemia, Failure to thrive, Hepatocellular carc... ORPHA:369
Nephrotic Syndrome, Type 16
Hematuria, Proteinuria, Nephrotic syndrome OMIM:617783
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Cataract OMIM:610156
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Megacystis, Intestinal malrotation, Hydroureter, Microcolon OMIM:619431
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... OMIM:619201
Posterior Urethral Valve
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... ORPHA:93110
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Cataract, Chorior... OMIM:616468
Spastic Paraparesis-Deafness Syndrome
Gait disturbance, Ataxia, Cataract ORPHA:2815
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Megacystis, Fetal megacystis, Hydroureter, Microcolon OMIM:619362
Spastic Paraplegia 76, Autosomal Recessive
Urinary incontinence OMIM:616907
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Urinary incontinence, Dysphagia OMIM:249900
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Small for gestational age OMIM:300076
Fragile X-Associated Tremor/Ataxia Syndrome
Dysphagia, Urinary bladder sphincter dysfunction, Pollakisuria, Myalgia, Bowel incontinence ORPHA:93256
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu... OMIM:616818
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k... OMIM:603965
Atresia Of Urethra
Patent urachus, Hydronephrosis, Renal dysplasia, Megacystis, Bladder fistula, Recurrent urinary t... ORPHA:105
Spastic Paralysis, Infantile-Onset Ascending
Urinary incontinence, Dysphagia OMIM:607225
Charcot-Marie-Tooth Disease, Type 4B3
Urinary incontinence OMIM:615284
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoglycemia, Intrauterine growth retardation, Hypoalbuminemia OMIM:617156
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Urinary incontinence, Low back pain OMIM:600142
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot process effacement,... OMIM:617006
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Megacystis, Intestinal malrotation, Multicystic kidney dysplasia, Hypoperistalsis, Abnormality of... ORPHA:2241
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Urofacial Syndrome 2
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... OMIM:615112
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Urinary incontinence, Dysphagia ORPHA:352641
Autoinflammation With Infantile Enterocolitis
Enterocolitis, Villous atrophy, Short stature, Failure to thrive, Myalgia, Increased circulating ... OMIM:616050
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
Dent Disease 2
Short stature, Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tub... OMIM:300555
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Cataract, Macular degeneration, Peripapillary atrophy OMIM:618195
Autosomal Recessive Spastic Paraplegia Type 35
Bowel incontinence, Urinary incontinence, Enuresis nocturna, Pollakisuria ORPHA:171629
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Hypoglycemia, Short stature, Nephrocalcinosis, Glycosuria, Large... OMIM:616026
Nijmegen Breakage Syndrome
Cachexia, Cleft palate, Short stature, Pollakisuria, Anal atresia, Anorectal anomaly, Anal stenosis ORPHA:647
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abdominal pain, Abnormal nephron morphol... ORPHA:93108
Spinocerebellar Ataxia 42
Urinary incontinence, Urinary urgency, Dysphagia OMIM:616795
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ... OMIM:601894
Ménétrier Disease
Hypoproteinemia, Stomach cancer, Abnormal gastric mucosa morphology, Helicobacter pylori infectio... ORPHA:2494
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Proximal tubulopathy, Weight loss, Aminoaciduria OMIM:612075
Spastic Paraplegia 54, Autosomal Recessive
Dysphagia, High palate, Short stature, Urinary incontinence, Bowel incontinence OMIM:615033
Idiopathic Achalasia
Decreased prealbumin level, Dysphagia, Weight loss, Gastroesophageal reflux, Chest pain ORPHA:930
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circulating protein conc... ORPHA:103910
Autosomal Dominant Spastic Paraplegia Type 8
Urinary incontinence, Urinary urgency ORPHA:100989
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Retinal deta... OMIM:610202
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis, Hypoalbuminemia ORPHA:88643
Autosomal Dominant Polycystic Kidney Disease
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... ORPHA:730
Familial Visceral Myopathy
Cleft palate, Aganglionic megacolon, Megacystis, Vesicoureteral reflux, Hydroureter ORPHA:2604
Orofaciodigital Syndrome Xviii
Urinary incontinence, Short stature OMIM:617927
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... ORPHA:976
Spastic Paraplegia 5A, Autosomal Recessive
Urinary incontinence OMIM:270800
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Elevated circulating creatinine con... ORPHA:567544
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Systemic Sclerosis
Abnormal stomach morphology, Intestinal bleeding, Barrett esophagus, Chronic kidney disease, Pain... ORPHA:90291
Galactosemia Iv
Cataract OMIM:618881
Chylomicron Retention Disease
Growth delay, Hypocholesterolemia, Failure to thrive, Hypotriglyceridemia, Steatorrhea, Hypoalbum... OMIM:246700
Spastic Paraplegia 44, Autosomal Recessive
Urinary incontinence OMIM:613206
Hydrocephalus, Normal-Pressure, 1
Bowel incontinence, Urinary incontinence OMIM:236690
Ochoa Syndrome
Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral reflux, ... ORPHA:2704
3-Methylglutaconic Aciduria, Type I
Failure to thrive, 3-Methylglutaconic aciduria, Urinary incontinence OMIM:250950
Eosinophilic Gastroenteritis
Dysphagia, Weight loss, Malabsorption, Abnormality of the gastrointestinal tract, Steatorrhea, Hy... ORPHA:2070
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency OMIM:607832
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei... OMIM:613237
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Dysphagia, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase concentrat... ORPHA:64753
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... OMIM:614817
Congenital Lethal Erythroderma
Failure to thrive, Malabsorption, Hypoalbuminemia ORPHA:1954
Glycogen Storage Disease Xi
Myoglobinuria, Elevated circulating creatine kinase concentration, Myalgia, Increased serum pyruv... OMIM:612933
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Urinary incontinence, Urinary urgency OMIM:612319
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Urinary incontinence OMIM:613115
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... OMIM:193230
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Intrauterine growth retardat... ORPHA:255249
Amyotrophic Dystonic Paraplegia
Bowel incontinence, Urinary incontinence OMIM:105300
Riboflavin Deficiency
Hypoglycemia, Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration OMIM:615026
Myoglobinuria, Autosomal Dominant
Elevated circulating creatine kinase concentration, Acute kidney injury, Myoglobinuria, Myalgia OMIM:160010
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hepatocellular carcinom... ORPHA:247585
X-Linked Non-Syndromic Intellectual Disability
Pyloric stenosis, Meckel diverticulum, Small for gestational age, Urinary incontinence, Obesity ORPHA:777
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Arthralgi... OMIM:161950
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Aganglionic megacolon, Hyperuricemia, Vesicoureteral reflux, Chronic kidney disea... ORPHA:261222
Neuronal Intranuclear Inclusion Disease
Urinary incontinence OMIM:603472
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Proteinuria ORPHA:2134
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Protein-losin... OMIM:602579
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, Retinopathy ORPHA:90654
Myopathy, Myofibrillar, 7
Dysphagia, Elevated circulating creatine kinase concentration, Enuresis nocturna, Myalgia, Urinar... OMIM:617114
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Cherubism
Marcus Gunn pupil, Optic neuropathy, Macular scar OMIM:118400
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity, Urinary incontinence, Absent pubertal growth spurt, Short stature ORPHA:464282
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Attenuation of ret... ORPHA:179
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Adult Polyglucosan Body Disease
Urinary incontinence, Urinary bladder sphincter dysfunction, Neurogenic bladder ORPHA:206583
Acquired Partial Lipodystrophy
Insulin resistance, Arthralgia, Microscopic hematuria, Glomerulopathy, Proteinuria ORPHA:79087
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Anuria, Megacystis, Fetal megacystis, Pyelonephritis, Ileal atr... OMIM:619351
Glycogen Storage Disease X
Elevated circulating creatine kinase concentration, Exercise-induced myalgia, Myoglobinuria, Rena... OMIM:261670
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis ORPHA:1068
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Autosomal Dominant Centronuclear Myopathy
Pyloric stenosis, Exercise-induced myalgia, Mildly elevated creatine kinase, Large for gestationa... ORPHA:169189
Duplication Of Urethra
Hypospadias, Bladder duplication, Micropenis, Rectourethral fistula, Chordee, Pain, Anal atresia,... ORPHA:237
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Macroscopic hematuria, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hyp... ORPHA:567546
Glycogen Storage Disease V
Elevated circulating creatine kinase concentration, Myoglobinuria, Exercise-induced myalgia, Dark... OMIM:232600
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Proteinuria, Renal insufficiency, Hypertriglyceridemia OMIM:245900
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Dysphagia, Nephrotic syndrome, Nephropathy, Glomerulopathy, P... OMIM:254900
Bladder Diverticulum
Urethral sphincter sclerosis, Urinary hesitancy, Hematuria, Dysuria, Recurrent urinary tract infe... OMIM:109820
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Optic nerve dysplasia, Progressive cataract OMIM:246000
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Cataract OMIM:278780
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentr... ORPHA:6
Refractory Celiac Disease
Jejunitis, Hypoproteinemia, Hypoalbuminemia, Villous atrophy, Weight loss, Hypophosphatemia, Mala... ORPHA:398063
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Fatigue, Chronic kidney disease, Elevated circulating C-reactive pr... ORPHA:449395
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, ... ORPHA:85450
Spinocerebellar Ataxia 10
Urinary incontinence, Urinary urgency, Dysphagia OMIM:603516
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
3-Methylglutaconic Aciduria Type 1
Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia ORPHA:67046
Porphyria, Acute Intermittent
Urinary retention, Hepatocellular carcinoma, Dysuria, Urinary incontinence, Paralytic ileus, Abdo... OMIM:176000
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Hypoglycemia, Growth delay, Failure to thrive, Hyperbilirubinemia, Hyp... OMIM:251880
Unilateral Focal Polymicrogyria
Urinary incontinence ORPHA:268947
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Congenital Nephrotic Syndrome, Finnish Type
Elevated amniotic fluid alpha-fetoprotein, Proteinuria, Abnormal renal tubule morphology, Nephrot... ORPHA:839
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intrauterine growth retardation, Hypoglycemia, Small for gestational age, Elevated circulating cr... OMIM:619055
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Small for gestational age, Pelvic kidn... ORPHA:93101
Short Stature Due To Ghsr Deficiency
Abnormality of body weight, Growth delay, Short stature, Hypoglycemia, Abdominal pain, Decreased ... ORPHA:314811
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Adult-Onset Distal Myopathy Due To Vcp Mutation
Mildly elevated creatine kinase, Back pain, Myalgia, Urinary incontinence, Bowel incontinence ORPHA:329478
Cystinosis
Renal tubular dysfunction, Hypokalemia, Short stature, Failure to thrive, Hypophosphatemia, Malab... ORPHA:213
Acute Intermittent Porphyria
Hyponatremia, Limb pain, Urinary retention, Hepatocellular carcinoma, Pseudobulbar paralysis, Dys... ORPHA:79276
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellit... ORPHA:411593
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Alg6-Cdg
Macroglossia, Failure to thrive, Hypoalbuminemia, Decreased LDL cholesterol concentration, Protei... ORPHA:79320
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation OMIM:614292
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract, Rod-cone dystrophy OMIM:619082
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Intellectual Developmental Disorder, X-Linked 90
Enuresis, High palate, Bifid uvula OMIM:300850
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Elevated circulating creatine kinase concentration, Myalgia, Increased serum pyruv... ORPHA:2364
Ectopia Lentis Et Pupillae
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Spastic Paraplegia 7, Autosomal Recessive
Urinary incontinence, Urinary urgency, Dysphagia, Urinary bladder sphincter dysfunction OMIM:607259
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Urinary incontinence OMIM:600795
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cata... OMIM:180104
Galactose Epimerase Deficiency
Weight loss, Aminoaciduria, Growth delay ORPHA:79238
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Galloway-Mowat Syndrome 3
High palate, Intrauterine growth retardation, Nephrotic syndrome, Short stature, Failure to thriv... OMIM:617729
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Failure to thrive, Chronic kidney disease, Hyperuricemia, Hypomagnesemia, Proteinur... OMIM:613845
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Faciodigitogenital Syndrome, Autosomal Recessive
Narrow palate, Pollakisuria, High palate, Proportionate short stature OMIM:227330
Brain-Lung-Thyroid Syndrome
Hypospadias, Growth delay, Short stature, Failure to thrive, Megacystis, Vesicoureteral reflux ORPHA:209905
Spastic Paraplegia 15, Autosomal Recessive
Bowel incontinence, Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:270700
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Hypokalemia, Lacticaciduria, Short stature, Hypophosphatemia, Glycosur... OMIM:134600
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Spinocerebellar Ataxia 17
Urinary incontinence, Dysphagia OMIM:607136
Perineural Cyst
Urinary bladder sphincter dysfunction, Sciatica, Lower limb pain, Anal pain, Recurrent urinary tr... ORPHA:65250
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Cataract ORPHA:85288
Neural Tube Defects, Susceptibility To
Urinary incontinence OMIM:182940
Spastic Paraplegia 46, Autosomal Recessive
Urinary incontinence OMIM:614409
Syringomyelia, Noncommunicating Isolated
Neck pain, Urinary incontinence OMIM:186700
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Failure to thrive, Urinary incontinence, Intrauterine growth retardation, Small for gestational age OMIM:604320
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Galactosemia Ii
Cataract OMIM:230200
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Gastrointestinal hemorrhage, Hypermethionin... ORPHA:247598
Glycogen Storage Disease, Type Ixd
Elevated circulating creatine kinase concentration, Exercise-induced myalgia, Exercise-induced my... OMIM:300559
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Urinary retention, Weight loss, Night sweats, Neoplasm of the liver, Low back pain,... ORPHA:2126
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Renal tubular dysfunction, Intrauterine growth retardation, Failure to thri... ORPHA:99885
Spastic Paraplegia 9A, Autosomal Dominant
Urinary urgency, Short stature, Urinary incontinence, Hiatus hernia, Gastroesophageal reflux OMIM:601162
Autosomal Dominant Spastic Paraplegia Type 12
Bowel incontinence, Urinary incontinence, Urinary urgency ORPHA:100993
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Isolated Epispadias
Urinary incontinence, Anteriorly displaced urethral meatus, Epispadias, Vesicoureteral reflux ORPHA:93928
C3 Glomerulopathy
Nephrotic syndrome, Hematuria, Elevated circulating creatinine concentration, Stage 5 chronic kid... ORPHA:329918
Cataract 16, Multiple Types
Posterior polar cataract, Retinal dystrophy, Developmental cataract OMIM:613763
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary incontinence, Dysuria, Abnormality of the urethra, Urinary retention ORPHA:2795
Mpi-Cdg
Failure to thrive, Hyperinsulinemic hypoglycemia, Gastrointestinal hemorrhage, Hypoalbuminemia, P... ORPHA:79319
Childhood Disintegrative Disorder
Bowel incontinence, Urinary incontinence ORPHA:168782
Central Diabetes Insipidus
Failure to thrive, Hyponatremia, Weight loss, Nocturia ORPHA:178029
Hyperinsulinism Due To Hnf4A Deficiency
Renal Fanconi syndrome, Fasting hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating fatt... ORPHA:263455
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Myoglobinuria, Elevated circulating creatine kinase concentration, Myalgia, Acute k... OMIM:268200
Mantle Cell Lymphoma
Weight loss, Abnormality of the gastrointestinal tract, Fatigue ORPHA:52416
Wolcott-Rallison Syndrome
Hyponatremia, Growth delay, Short stature, Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, C... ORPHA:1667
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Retinal detachment, Ca... OMIM:212550
Spinocerebellar Ataxia 25
Urinary urgency OMIM:608703
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Urinary incontinence OMIM:617145
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, High, narrow palate, Hydronephrosis, High palate, Elevated circulating long chain fa... OMIM:214100
Spinocerebellar Ataxia Type 25
Episodic abdominal pain, Urinary urgency ORPHA:101111
Retinitis Pigmentosa 2
Pigmentary retinopathy, Cataract, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312600
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Urinary incontinence OMIM:221770
Hereditary Motor And Sensory Neuropathy, Type Iic
Urinary incontinence, Urinary urgency, Short stature OMIM:606071
Thrombotic Thrombocytopenic Purpura
Hematuria, Decreased serum creatinine, Acute kidney injury, Proteinuria, Renal insufficiency, Abd... ORPHA:54057
Pulmonary Blastoma
Weight loss, Chest pain ORPHA:64741
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... OMIM:616000
Mental Retardation With Language Impairment And With Or Without Autistic Features
Enuresis, Obesity, Failure to thrive in infancy OMIM:613670
Galloway-Mowat Syndrome 2, X-Linked
High palate, Intrauterine growth retardation, Minimal change glomerulonephritis, Nephrotic syndro... OMIM:301006
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Type II diabetes mellitus, Short stature, Insulin resistance, Failure to thrive, Tr... ORPHA:181393
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Protein-losing enteropathy, Intrauterine growth retardation, Hypoalbuminemia OMIM:608104
Cednik Syndrome
Proteinuria, Short stature, Nephrotic syndrome ORPHA:66631
Aicardi-Goutieres Syndrome 9
Intrauterine growth retardation, Failure to thrive, Weight loss, Glomerular sclerosis, Stage 5 ch... OMIM:619487
Nephrotic Syndrome, Type 22
Hypoproteinemia, Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stag... OMIM:619155
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Bowel incontinence, Urinary incontinence, Dysphagia OMIM:618868
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy OMIM:300928
Peroxisome Biogenesis Disorder 14B
Urinary incontinence OMIM:614920
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Proteinuria, Nephrotic syndrome OMIM:105200
Autosomal Recessive Spastic Paraplegia Type 46
Urinary incontinence ORPHA:320391
Pellagra-Like Syndrome
Ataxia, Cataract OMIM:260650
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Short stature, Nephrotic syndrome, Type I diabetes mellitus, Nephropathy, Proteinuria ORPHA:1192
Adrenoleukodystrophy
Bowel incontinence, Urinary incontinence, Elevated circulating long chain fatty acid concentratio... OMIM:300100
Huntington Disease-Like 3
Bowel incontinence, Urinary incontinence OMIM:604802
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Infantile hypercalcemia, Hyper... OMIM:143880
Cataract 47
Microcornea, Cataract OMIM:612018
Mu-Heavy Chain Disease
Weight loss, Bence Jones Proteinuria, Nephropathy ORPHA:100024
Pure Autonomic Failure
Constitutional symptom, Urinary incontinence, Dysuria ORPHA:441
Chiari Malformation Type I
Neck pain, Urinary incontinence, Dysphagia OMIM:118420
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne... OMIM:613496
Lcat Deficiency
Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Stage 5 chronic ki... ORPHA:650
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Short stature, Failure to thrive, Glycosuria, Ketotic hypoglycemia, Abnormality o... ORPHA:2089
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Growth delay, Short stature, Glycosuria, Aminoaciduria, Proteinuria OMIM:615605
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder ORPHA:2571
Nephrogenic Diabetes Insipidus
Growth delay, Hypernatremia, Short stature, Failure to thrive, Enuresis nocturna, Functional abno... ORPHA:223
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Failure to thrive, Hyperalaninemia, Hypoalbuminemia, 3-Methylglutaconic aciduria OMIM:618329
2P21 Microdeletion Syndrome
Hypoglycemia, Growth delay, Failure to thrive, Nephrolithiasis, Cystinuria, Hypocalcemia ORPHA:163693
Xfe Progeroid Syndrome
Cachexia, Proteinuria, Renal insufficiency, Severe short stature OMIM:610965
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Urinary incontinence, Dysphagia ORPHA:98
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Cataract, Retinopathy, Microcornea OMIM:616171
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Tubulointerstitial nephritis, Elevated circulating long chain fatty acid concentra... ORPHA:228302
Juvenile Polyposis Syndrome
Rectal prolapse, Neoplasm of the stomach, Hypokalemia, Failure to thrive, Multiple gastric polyps... OMIM:174900
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Retinitis Pigmentosa 37
Pigmentary retinopathy, Cataract, Cystoid macular degeneration, Rod-cone dystrophy OMIM:611131
Autosomal Recessive Spastic Paraplegia Type 69
Hand tremor, Cataract ORPHA:401830
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Multicentric Carpotarsal Osteolysis Syndrome
Arthralgia, Proteinuria, Renal insufficiency, Nephropathy OMIM:166300
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Highly elevated creatine kinase, Dysphagia, Elevated circulating creatine kinase concentration, E... ORPHA:368
Neuromyelitis Optica Spectrum Disorder
Functional abnormality of the bladder, Ocular pain, Recurrent singultus ORPHA:71211
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Failure to thrive in infancy, Tubulointerstitial nephritis, Cachexia,... ORPHA:37042
Immunodeficiency 27A
Weight loss, Night sweats, Hypoalbuminemia OMIM:209950
Aa Amyloidosis
Nephrotic syndrome, Malabsorption, Acute kidney injury, Nephropathy, Chronic kidney disease, Abdo... ORPHA:85445
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney disease, Glycosuria, Aminoa... OMIM:618913
Foix-Alajouanine Syndrome
Urinary retention, Back pain, Functional abnormality of the bladder, Urinary incontinence, Bowel ... ORPHA:79093
Dopa-Responsive Dystonia
Urinary incontinence, Pain, Fatigue ORPHA:255
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, Broad-based gait, Cataract, Gait... OMIM:224050
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome OMIM:614650
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Nephrocalcinosis, Failure to thrive, Hematuria, Decreased glomerular f... ORPHA:93598
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Hypoglycemia, Methylmalonic aciduria, Failure to t... ORPHA:289504
Leishmaniasis
Weight loss, Night sweats, Arthralgia, Fatigue, Hypoalbuminemia ORPHA:507
Congenital Disorder Of Glycosylation, Type Ia
Nephrotic syndrome, Hypocholesterolemia, Proximal tubulopathy, Failure to thrive, Renal cyst, Hyp... OMIM:212065
Cataract 41
Nuclear cataract, Developmental cataract OMIM:116400
Huntington Disease-Like 3
Bowel incontinence, Urinary incontinence ORPHA:157946
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Intrauterine growth retardation, Hypoketotic hypoglycemia, Failure to thrive, Hype... ORPHA:71212
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Hypercalcemia, Proteinuria, Renal insufficiency ORPHA:2668
Megabladder, Congenital
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease OMIM:618719
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Mitochondrial Membrane Protein-Associated Neurodegeneration
Bowel incontinence, Urinary incontinence, Dysphagia ORPHA:289560
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cataract ORPHA:3233
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Short stature, Small for gestational age, Nephrotic syndrome, Proteinuria OMIM:215250
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Renal dysplasia, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypoalbuminemi... OMIM:618183
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Anti-Glomerular Basement Membrane Disease
Hematuria, Arthralgia, Myalgia, Glomerulopathy, Proteinuria, Renal insufficiency, Chest pain ORPHA:375
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy OMIM:204100
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Hyperlysinemia, Type I
Hyperactivity, Ectopia lentis OMIM:238700
Posterior Column Ataxia With Retinitis Pigmentosa
Recurrent urinary tract infections, Achalasia, Urinary incontinence OMIM:609033
Spinocerebellar Ataxia Type 13
Urinary incontinence, Urinary urgency, Dysphagia, Short stature ORPHA:98768
Laryngeal Neuroendocrine Tumor
Oral-pharyngeal dysphagia, Elevated carcinoembryonic antigen level, Weight loss, Chronic fatigue ORPHA:100083
Hinman Syndrome
Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Bowel incont... ORPHA:84085
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Hypophosphatemia, Proximal renal tubular acidosis, Hyperuricosuria, Chronic kidney ... ORPHA:3337
Becker Muscular Dystrophy
Myoglobinuria, Elevated circulating creatine kinase concentration, Myalgia, Fatigue, Abnormal uri... ORPHA:98895
Osteootohepatoenteric Syndrome
Grade II vesicoureteral reflux, Villous atrophy, Ileoileal intussusception, Hypokalemia, Failure ... OMIM:619377
Small Cell Carcinoma Of The Bladder
Hypercalcemia, Hematuria, Dysuria, Recurrent urinary tract infections, Abdominal pain ORPHA:284400
Familial Mediterranean Fever, Autosomal Dominant
Arthralgia, Proteinuria, Renal insufficiency, Abdominal pain, Renal amyloidosis, Chest pain OMIM:134610
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Increased urine alpha-ketoglutarate c... ORPHA:35878
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Growth delay, Increased stool alpha1-antitrypsin concentration,... ORPHA:90362
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Macroglossia, Neph... OMIM:617303
Dent Disease
Tubulointerstitial fibrosis, Non-acidotic proximal tubulopathy, Hyperuricosuria, Renal hypophosph... ORPHA:1652
Tuberculosis
Weight loss, Fatigue ORPHA:3389
Gitelman Syndrome
Tubulointerstitial nephritis, Renal potassium wasting, Type I diabetes mellitus, Enuresis, Abdomi... ORPHA:358
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hydronephrosis, Renal agenesis, Cleft palate, Absence of Stensen duct, Urethral stenosis, Xerosto... OMIM:604292
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Decreased plasma free carnitine, Hypoketotic hypoglycemia, Elevated circulating cr... ORPHA:228305
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia, Histidinuria, Impaired histidine renal tubular absorption ORPHA:2158
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Horseshoe kidney, Hydronephrosis, Mild postnatal growth retardation, Rectal prolapse, Intestinal ... OMIM:235510
Imerslund-Grasbeck Syndrome 1
Proteinuria OMIM:261100
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia, Tremor OMIM:615924
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Paganini-Miozzo Syndrome
Urinary incontinence OMIM:301025
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Bowel incontinence, Urinary incontinence, Decreased body weight, Dysphagia OMIM:300243
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myalgia, Myoglobinuria, Renal insufficiency OMIM:255110
Trichohepatoenteric Syndrome 1
Hypospadias, Increased serum iron, Abnormality of iron homeostasis, Intrauterine growth retardati... OMIM:222470
Spinocerebellar Ataxia Type 19/22
Urinary incontinence ORPHA:98772
Xq28 (MECP2) duplication
Failure to thrive, Functional abnormality of the bladder, Gastroesophageal reflux, Dysphagia DECIPHER:45
Wieacker-Wolff Syndrome, Female-Restricted
Urinary incontinence, Cleft palate, Dysphagia, Short stature OMIM:301041
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, High palate, Intrauterine growth retardation, Nephrotic syndr... OMIM:251300
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Urinary incontinence, Pseudobulbar paralysis OMIM:125310
Isolated Aniridia
Aniridia, Cataract, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Keratoconus OMIM:613835
Saccharopinuria
Hypercystinemia, Short stature, Cystinuria, Hyperammonemia, Citrullinuria, Abnormality of circula... ORPHA:3124
Hereditary Renal Hypouricemia
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... ORPHA:94088
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Retinitis Pigmentosa 23
Posterior subcapsular cataract, Rod-cone dystrophy OMIM:300424
Indifference To Pain, Congenital, Autosomal Recessive
Urinary incontinence OMIM:243000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Short stature, Elevated circulating creatine kinase concentration, Hyperammonemia, ... OMIM:618120
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Myalgia, Highly elevated creatine kinase, Macroglossia, Exercise-induced myoglobinuria ORPHA:352479
Combined Oxidative Phosphorylation Deficiency 52
Hyperamylasemia, Hypoglycemia, Lacticaciduria, Elevated circulating creatine kinase concentration... OMIM:619386
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Retinal detachment, ... ORPHA:1473
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Hypoalbuminemia OMIM:618805
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Abnormal intestine morphology, Hypoalbuminemia OMIM:600351
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Postnatal growt... OMIM:232700
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Colonic diverticula, Small bowel diverticula, Bladder diverticulum OMIM:223330
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Macroscopic hematuria, Elevated circulating creatinine concentration, Dysuria, Hyperuricemia, Acu... ORPHA:79233
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Abnormal intestine morphology, Growth delay, Malabsorption, Intestinal obstructi... OMIM:226300
Basal Ganglia Calcification, Idiopathic, 1
Urinary incontinence OMIM:213600
Aniridia 2
Aniridia, Cataract OMIM:617141
Denys-Drash Syndrome
Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome ORPHA:220
Rhabdoid Tumor
Hypercalcemia, Hematuria, Weight loss, Neoplasm of the liver, Renal neoplasm, Abdominal pain ORPHA:69077
Galloway-Mowat Syndrome 5
Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dysphagia, Esophageal neoplasm, Morphological abnormality of the gastrointestinal tract, Failure ... ORPHA:1018
Majeed Syndrome
Cachexia, Failure to thrive, Weight loss, Malabsorption, Myalgia, Arthralgia, Microscopic hematur... ORPHA:77297
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Dysphagia, Stress urinary incontinence, Diabetes mellitus ORPHA:136
Spinocerebellar Ataxia Type 42