Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cholinergic receptor, nicotinic, alpha polypeptide 3
Synonyms:
alpha 3,  A730007P14Rik,  neuronal nicotinic acetylcholine receptor, alpha 3 subunit,  Acra-3,  (a)3,  Acra3

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 Chrna3 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 Chrna3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Hydronephrosis, Orthostatic hypotension, Slow pupillary light response, Failure to t... OMIM:191800

The table below shows human diseases predicted to be associated to Chrna3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis, Megacystis, Abdominal distention, Nephrolithiasis, Recurrent urinary tract infections,... OMIM:619365
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nausea and vomiting, Hydronephrosis, Urinary bladder inflammation, Congenital pyloric atresia, Ap... ORPHA:79403
Iatrogenic Botulism
Mydriasis, Dysphagia, Urinary retention, Ptosis, Xerostomia, Orthostatic hypotension, Fatigue, Co... ORPHA:254509
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Megacystis, Volvulus, Es... OMIM:619350
Inhalational Botulism
Mydriasis, Nausea and vomiting, Urinary retention, Ptosis, Xerostomia, Fatigue, Diarrhea, Constip... ORPHA:254504
Foodborne Botulism
Mydriasis, Nausea and vomiting, Dysphagia, Urinary retention, Ptosis, Xerostomia, Diarrhea, Abdom... ORPHA:228371
Adrenomyodystrophy
Abnormal intestine morphology, Abnormality of the urinary system, Failure to thrive, Megacystis, ... ORPHA:977
Visceral Myopathy 1
Hydronephrosis, Dysphagia, Aganglionic megacolon, Megaduodenum, Urinary retention, Intestinal pse... OMIM:155310
Interstitial Cystitis
Urinary bladder inflammation, Urinary urgency, Pollakisuria, Pain, Functional abnormality of the ... ORPHA:37202
Wound Botulism
Mydriasis, Dysphagia, Urinary retention, Ptosis, Constipation ORPHA:178475
Malakoplakia
Inflammatory abnormality of the skin, Urinary bladder inflammation, Urinary urgency, Urinary hesi... ORPHA:556
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Sepsis, Hydronephrosis, Megacystis, Fetal megacystis, Abdominal distention, Neonatal death, Hydro... OMIM:619362
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Dacryocystitis, Fatigue, Chronic kidney disease, Abdominal pain, In... ORPHA:449395
Botulism
Mydriasis, Nausea and vomiting, Dysphagia, Urinary retention, Xerostomia, Fatigue, Diarrhea, Abdo... ORPHA:1267
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the gastrointestinal tract, Functional abnormality of the bladder ORPHA:100997
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Sepsis, Megacystis, Abdominal distention, Intestinal malrotation, Multicysti... ORPHA:2241
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Abnormality of the autonomic nervous system, Urinary incontinence, Urinary urgency OMIM:156310
Intellectual Developmental Disorder, X-Linked 29
Urinary incontinence, Long palpebral fissure OMIM:300419
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Mydriasis, Peritonitis, Anuria, Megacystis, Ileal atresia, Pyel... OMIM:619351
Autosomal Dominant Spastic Paraplegia Type 13
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Rod-cone dystrophy ORPHA:100994
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Hereditary Coproporphyria
Limb pain, Hepatocellular carcinoma, Episodic vomiting, Nausea, Porphyrinuria, Back pain, Dark ur... ORPHA:79273
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Feeding difficulties in infancy, Vomiting, Failure to thrive, Megacystis, Polyuria, Constipation OMIM:125800
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... OMIM:617805
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Feeding difficulties in infancy, Vomiting, Failure to thrive, Megacystis, Polyuria, Constipation OMIM:304800
Spastic Paraplegia 13, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:605280
Spastic Paraplegia 6, Autosomal Dominant
Tremor, Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:600363
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Miosis, T... OMIM:603472
Spastic Paraplegia 12, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:604805
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Renal cortical cysts, Developmental cataract, Generalized aminoaciduria, V... OMIM:231680
3-Methylglutaconic Aciduria, Type Ix
Failure to thrive, 3-Methylglutaconic aciduria, Urinary incontinence, Optic atrophy OMIM:617698
Spastic Paraplegia 19, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:607152
Peroxisome Biogenesis Disorder 5A (Zellweger)
Feeding difficulties in infancy, Cleft palate, Failure to thrive, Renal cyst, Epicanthus, Brushfi... OMIM:614866
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the urinary system, Abnormality of the upper urinary tract, Hydrou... ORPHA:2838
Atresia Of Urethra
Patent urachus, Hydronephrosis, Renal dysplasia, Megacystis, Abdominal distention, Bladder fistul... ORPHA:105
Hypercalcemia, Infantile, 2
Nephrocalcinosis, Failure to thrive, Renal phosphate wasting, Medullary nephrocalcinosis, Hyperca... OMIM:616963
Spastic Paraplegia 72, Autosomal Recessive
Urinary bladder sphincter dysfunction OMIM:615625
Spastic Paraplegia 54, Autosomal Recessive
Dysphagia, High palate, Optic nerve hypoplasia, Telecanthus, Urinary incontinence, Bowel incontin... OMIM:615033
Baralle-Macken Syndrome
High, narrow palate, Upslanted palpebral fissure, Urinary incontinence, Cataract, Obesity OMIM:619255
3-Methylglutaconic Aciduria Type 9
Optic atrophy, Failure to thrive, Slender build, Urinary incontinence, 3-Methylglutaconic aciduria ORPHA:505216
Autosomal Recessive Spastic Paraplegia Type 27
Abnormality of somatosensory evoked potentials, Spastic/hyperactive bladder ORPHA:101007
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor... OMIM:611555
Acute Intermittent Porphyria
Nausea and vomiting, Constipation, Urinary retention, Hepatocellular carcinoma, Pseudobulbar para... ORPHA:79276
Spastic Paraplegia 8, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:603563
Attrv30M Amyloidosis
Vitreous floaters, Abnormal renal physiology, Weight loss, Nephropathy, Diarrhea, Constipation, A... ORPHA:85447
Spastic Paraplegia 83, Autosomal Recessive
Myalgia, Dysphagia, Urinary urgency OMIM:619027
Spastic Paraplegia 37, Autosomal Dominant
Urinary incontinence, Urinary urgency OMIM:611945
Isolated Polycystic Liver Disease
Feeding difficulties in infancy, Abdominal distention, Back pain, Gastrointestinal hemorrhage, Mu... ORPHA:2924
Arachnoid Cyst
Mydriasis, Urinary bladder sphincter dysfunction, Ptosis, Abnormal large intestine physiology, Na... ORPHA:2356
Urofacial Syndrome 2
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... OMIM:615112
Spastic Paraplegia 41, Autosomal Dominant
Urinary urgency OMIM:613364
Bardet-Biedl Syndrome 16
Renal agenesis, Retinal degeneration, Renal dysplasia, Recurrent otitis media, Renal cyst, Rod-co... OMIM:615993
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux OMIM:618270
Autosomal Recessive Frontotemporal Pachygyria
Urinary incontinence, Telecanthus ORPHA:329329
Porphyria
Nausea and vomiting, Anorexia, Fatigue, Abnormal urinary color, Diarrhea, Abdominal pain, Constip... ORPHA:738
Spastic Paraplegia 36, Autosomal Dominant
Urinary incontinence, Urinary urgency OMIM:613096
Dubin-Johnson Syndrome
Fatigue, Abnormal urinary color, Abdominal pain, Abnormal gastric mucosa morphology ORPHA:234
Spastic Paraplegia 10, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:604187
Congenital Primary Megaureter
Hydronephrosis, Abnormal penis morphology, Congenital megaureter, Nephrolithiasis, Recurrent urin... ORPHA:617
Immunodeficiency 61
Recurrent bacterial infections, Recurrent otitis media, Malabsorption, Arthritis, Obesity, Recurr... OMIM:300310
Spastic Paraplegia 27, Autosomal Recessive
Spastic/hyperactive bladder OMIM:609041
Blue Diaper Syndrome
Diarrhea, Blue urine, Increased body weight, Nephrocalcinosis ORPHA:94086
Complement Factor H Deficiency
Recurrent bacterial infections, Hematuria, Chronic kidney disease, Thickened glomerular basement ... OMIM:609814
Hypercalcemia, Infantile, 1
Vomiting, Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Hypercalciuria, Poly... OMIM:143880
Spastic Paraplegia 11, Autosomal Recessive
Dysphagia, Urinary urgency, Retinal degeneration, Urinary bladder sphincter dysfunction, Macular ... OMIM:604360
Chronic Graft Versus Host Disease
Fasciitis, Recurrent infections, Diarrhea, Abdominal pain, Phimosis, Esophageal ulceration, Pain,... ORPHA:99921
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Urinary bladder sphincter dysfunction ORPHA:284282
Familial Visceral Myopathy
Cleft palate, Aganglionic megacolon, Megacystis, Abdominal distention, Vesicoureteral reflux, Hyd... ORPHA:2604
Spastic Paraplegia 3, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:182600
Enuresis, Nocturnal, 1
Enuresis nocturna OMIM:600631
Enuresis, Nocturnal, 2
Enuresis nocturna OMIM:600808
Pediatric Systemic Lupus Erythematosus
Nephrotic syndrome, Vomiting, Abnormality of the urinary system, Myositis, Hematuria, Nephritis, ... ORPHA:93552
Mannose-Binding Lectin Deficiency
Recurrent herpes, Failure to thrive, Disseminated cryptosporidium infection, Recurrent skin infec... OMIM:614372
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Bilateral cleft lip and palate, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Posterior ... ORPHA:1473
Spastic Paraplegia, Ataxia, And Mental Retardation
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:607565
Porphyria Due To Ala Dehydratase Deficiency
Purple urine, Episodic vomiting, Nausea, Abdominal distention, Increased fecal coproporphyrin 3, ... ORPHA:100924
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity, Recurrent respiratory infections, Rod-cone dystrophy, Nephrocalcinosis OMIM:615633
Paroxysmal Cold Hemoglobinuria
Nausea and vomiting, Hemoglobinuria, Back pain, Arthralgia, Abnormal urinary color, Recurrent res... ORPHA:90035
Nephrotic Syndrome, Type 1
Pyloric stenosis, Renal tubular atrophy, Small for gestational age, Congenital nephrotic syndrome... OMIM:256300
Spastic Paraplegia 5A, Autosomal Recessive
Optic atrophy, Urinary incontinence, Cataract OMIM:270800
Autosomal Recessive Spastic Paraplegia Type 48
Urinary incontinence, Retinopathy, Urinary bladder sphincter dysfunction ORPHA:306511
Cold Agglutinin Disease
Nausea and vomiting, Back pain, Arthralgia, Fatigue, Abnormal urinary color, Diarrhea ORPHA:56425
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abdominal pain, Abnormal nephron morphol... ORPHA:93108
Spastic Paraplegia 4, Autosomal Dominant
Low back pain, Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:182601
Cat-Eye Syndrome
Hydronephrosis, Chorioretinal coloboma, Microphthalmia, Abnormal localization of kidney, Downslan... ORPHA:195
Autosomal Spastic Paraplegia Type 72
Postural tremor, Pain, Urinary bladder sphincter dysfunction ORPHA:401849
Hypomagnesemia 3, Renal
Feeding difficulties in infancy, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hem... OMIM:248250
Spinocerebellar Ataxia 48
Tremor, Urinary incontinence, Dysphagia, Cachexia OMIM:618093
Autosomal Dominant Spastic Paraplegia Type 4
Urinary urgency, Urinary bladder sphincter dysfunction ORPHA:100985
Autosomal Dominant Spastic Paraplegia Type 73
Urinary incontinence, Urinary urgency ORPHA:444099
Spastic Paraplegia 31, Autosomal Dominant
Dysphagia, Urinary urgency OMIM:610250
Riboflavin Transporter Deficiency
Dysphagia, Optic disc pallor, Abnormal cranial nerve morphology, Cachexia, Ptosis, Facial palsy, ... ORPHA:97229
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Urinary incontinence ORPHA:100988
Infant Botulism
Keratoconjunctivitis sicca, Mydriasis, Dysphagia, Anorexia, Ptosis, Xerostomia, Chronic otitis me... ORPHA:178478
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Vomiting, Nephrocalcinosis, Failure to thrive, Hypercalciuria, Distal renal tubular acidosis OMIM:602722
Bardet-Biedl Syndrome 10
Retinal dystrophy, Renal cyst, Rod-cone dystrophy, Obesity, Renal insufficiency, Abnormality of t... OMIM:615987
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... OMIM:143400
Autosomal Dominant Spastic Paraplegia Type 36
Urinary incontinence, Urinary urgency, Arthritis ORPHA:320365
Spastic Paraplegia 44, Autosomal Recessive
Urinary incontinence, Constipation, Intention tremor OMIM:613206
X-Linked Non-Syndromic Intellectual Disability
Pyloric stenosis, Meckel diverticulum, Small for gestational age, Facial palsy, Downslanted palpe... ORPHA:777
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Megacystis, Intestinal malrotation, Hepatic failure, Hydroureter, Microcolon OMIM:619431
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Vomiting, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hypercalciuria OMIM:239199
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Hydronephrosis, Feeding difficulties in infancy, Vomiting, Intestinal pseudo-ob... OMIM:300048
Serotonin Syndrome
Mydriasis, Nausea, Abnormality of the autonomic nervous system, Tremor, Acute kidney injury, Hepa... ORPHA:43116
Myopathy Due To Malate-Aspartate Shuttle Defect
Exercise-induced myalgia, Red urine OMIM:254960
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Chronic kidney disease,... OMIM:300555
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dysphagia, Exercise-induced myalgia, Exercise-induced myoglobinuria, Dark urine, Acute kidney inj... ORPHA:368
Spastic Paraplegia 48, Autosomal Recessive
Urinary incontinence, Retinopathy OMIM:613647
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Anorexia, Vomiting, Nephrocalcinosis, Failure to thrive, Stillbirth... OMIM:241500
Spastic Paraplegia 16, X-Linked
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:300266
Siddiqi Syndrome
Urinary incontinence OMIM:618635
Ochoa Syndrome
Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral reflux, ... ORPHA:2704
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Urinary incontinence, Dysphagia OMIM:249900
Variant Abeta2M Amyloidosis
Abnormal salivary gland morphology, Gastrointestinal infarctions, Intestinal perforation, Knee pa... ORPHA:314652
Spastic Paraplegia 80, Autosomal Dominant
Urinary urgency OMIM:618418
Hartnup Disease
Neutral hyperaminoaciduria, Infectious encephalitis, Malabsorption, Glossitis, Skin rash, Abnorma... ORPHA:2116
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Nephrotic syndrome, Gastrointestinal dysmot... ORPHA:330001
Intestinal Botulism
Mydriasis, Nausea and vomiting, Dysphagia, Ptosis, Xerostomia, Diarrhea ORPHA:178481
Uveal Melanoma
Abnormal fundus morphology, Mydriasis, Retinal detachment, Vitreous hemorrhage, Inflammatory abno... ORPHA:39044
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:656
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Head tremor, Urinary incontinence, Dysphagia ORPHA:352641
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Attenuation of retinal blood vessels, Decreased sensory nerve conduction velocity,... OMIM:609033
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder ORPHA:488594
Harrod Syndrome
Hypospadias, Pyloric stenosis, High, narrow palate, High palate, Aganglionic megacolon, Failure t... OMIM:601095
Peroxisome Biogenesis Disorder 10B
Cataract, Neurogenic bladder, Nephrocalcinosis OMIM:617370
Primary Hyperoxaluria Type 3
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... ORPHA:93600
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Gastrointestinal dysmotility, Abdominal distention, Slender build, Weight loss, Malabso... OMIM:613662
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Failure to thrive, Highly arched eyebrow, Feeding difficulties, Nephrocalcinosis ORPHA:500533
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Renal insufficiency, Nephrotic syndrome, Membranoproliferative gl... OMIM:613779
Syringomyelia, Noncommunicating Isolated
Horner syndrome, Urinary incontinence, Neck pain OMIM:186700
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, High, narrow palate, Hydronephrosis, High palate, Optic disc pallor, Macroglossia, U... OMIM:214100
Glucose/Galactose Malabsorption
Failure to thrive, Abdominal distention, Malabsorption, Glycosuria, Chronic diarrhea, Hyperactive... OMIM:606824
Mpdu1-Cdg
Renal cortical cysts, Optic atrophy, Eczema, Nasogastric tube feeding, Feeding difficulties ORPHA:79323
Harderoporphyria
Increased urinary porphobilinogen, Increased urine harderoporphyrin level, Vomiting, Red urine OMIM:618892
Spinocerebellar Ataxia 42
Tremor, Urinary incontinence, Urinary urgency, Dysphagia OMIM:616795
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Microphthalmia, Morning glory anomaly, Ret... OMIM:120330
Charcot-Marie-Tooth Disease, Type 4B3
Urinary incontinence, Decreased nerve conduction velocity OMIM:615284
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cleft palate, Microphthalmia, Ptosis, Hematuria, Cataract OMIM:120433
Pure Autonomic Failure
Constitutional symptom, Orthostatic hypotension, Dysuria, Urinary incontinence, Constipation, Abn... ORPHA:441
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... OMIM:602088
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:567548
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Abdominal distention, Renal cyst, Back pain OMIM:174050
Spastic Paraplegia 29, Autosomal Dominant
Urinary urgency, Urinary hesitancy, Vomiting, Urinary incontinence, Hiatus hernia, Nocturia OMIM:609727
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Recurrent bacterial infections, Hydronephrosis, Mesangial Immune complex d... OMIM:613496
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Vomiting, Intestinal pseudo-obstruction, Functional intestinal obstruction... OMIM:243180
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Urinary incontinence, Urinary urgency OMIM:612319
Becker Muscular Dystrophy
Myalgia, Fatigue, Myoglobinuria, Abnormal urinary color ORPHA:98895
Apnea, Central Sleep
Urinary incontinence OMIM:207720
Blue Diaper Syndrome
Nephrocalcinosis OMIM:211000
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Hypospadias, Renal cortical cysts, Meningocele, Subretinal deposits, Recurrent aspiration pneumon... ORPHA:397715
Posterior Urethral Valve
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... ORPHA:93110
Volvulus Of Midgut
Neonatal intestinal obstruction, Abdominal distention, Volvulus, Telecanthus, Long palpebral fiss... OMIM:193250
Orofaciodigital Syndrome Xviii
Upslanted palpebral fissure, Urinary incontinence OMIM:617927
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis ORPHA:33111
Multiple Sclerosis, Susceptibility To
Urinary incontinence, Urinary hesitancy OMIM:126200
Glycogen Storage Disease V
Exercise-induced myalgia, Myoglobinuria, Dark urine OMIM:232600
Primary Hyperoxaluria Type 1
Hyperoxaluria, Nephrocalcinosis, Failure to thrive, Hematuria, Decreased glomerular filtration ra... ORPHA:93598
Macrosomia With Microphthalmia, Lethal
Median cleft palate, Microphthalmia, Respiratory infections in early life, Large for gestational age OMIM:248110
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Blue irides, Hydronephrosis, Cleft palate, Absence of Stensen duct, Renal agenesis, Urethral sten... OMIM:604292
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Rod-cone dystrophy, Recurrent urinary t... OMIM:248190
Bardet-Biedl Syndrome 6
Hypospadias, Retinal dystrophy, Renal cyst, Rod-cone dystrophy, Obesity OMIM:605231
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Anorexia, Nephrocalcinosis, Failure to thrive, Isothenuria, Distal renal tubular acidosis OMIM:611590
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Chronic furunculosis, Recurrent bronchitis, Pneumonia, Chronic ora... OMIM:613953
Cirrhosis, Familial
Abdominal distention, Esophageal varix, Increased level of L-fucose in urine OMIM:215600
Paget Disease Of Bone 6
Osteoarthritis, Bone pain, Nephrocalcinosis OMIM:616833
Trehalase Deficiency
Vomiting, Abdominal distention, Malabsorption, Diarrhea, Abdominal pain ORPHA:103909
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Amyloid deposition in the vitreous humor, T... OMIM:105210
Intellectual Developmental Disorder, X-Linked 90
Enuresis, Upslanted palpebral fissure, High palate, Bifid uvula OMIM:300850
Autoimmune Hemolytic Anemia
Fatigue, Abnormal urinary color, Abdominal pain ORPHA:98375
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Small for gestational age, Neonatal death OMIM:300076
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Tubulointerstitial nephritis, Exercise-induced myalgia, Red-brown urine, Stage 5 c... ORPHA:228302
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Failure to thrive, Recurrent otitis media, ... OMIM:613501
Dent Disease
Tubulointerstitial fibrosis, Non-acidotic proximal tubulopathy, Hyperuricosuria, Chronic kidney d... ORPHA:1652
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Urinary incontinence OMIM:616688
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Failure to thrive, Renal cyst, Dark urine, Steatorrhea, Hepatic failure, Fa... ORPHA:79303
Fanconi-Bickel Syndrome
Hyperphosphaturia, Generalized aminoaciduria, Hepatocellular carcinoma, Nephrocalcinosis, Failure... ORPHA:2088
Microvillus Inclusion Disease
Villous atrophy, Nephrocalcinosis, Abnormal renal physiology, Abdominal distention, Abnormality o... ORPHA:2290
Hyperbiliverdinemia
Green urine, Decreased liver function OMIM:614156
Toxin-Mediated Infectious Botulism
Mydriasis, Dysphagia, Constipation, Ptosis ORPHA:230800
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Renal cortical cysts, Feeding difficulties OMIM:617668
Alternating Hemiplegia Of Childhood
Mydriasis, Dysphagia, Anorexia, Thin eyebrow, Vomiting, Gastrointestinal dysmotility, Failure to ... ORPHA:2131
Mosaic Trisomy 1
Renal cortical cysts, Cleft palate, Microphthalmia, Congenital bilateral ptosis, Renal cyst, Down... ORPHA:1692
Tetanus
Dysphagia, Opisthotonus, Elevated urinary epinephrine, Tremor, Autonomic bladder dysfunction, Ele... ORPHA:3299
Spastic Paralysis, Infantile-Onset Ascending
Urinary incontinence, Dysphagia OMIM:607225
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Hydronephrosis, Hydroureter, Abnormal autonomic nervous system physiology OMIM:598500
Cocaine Intoxication
Mydriasis, Bloody diarrhea, Tubulointerstitial nephritis, Gastrointestinal infarctions, Vomiting,... ORPHA:90068
Spastic Paraplegia 76, Autosomal Recessive
Urinary incontinence OMIM:616907
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Dysphagia, Cachexia, Vomiting, Ptosis, Gastrointestina... ORPHA:298
Porphyria, Acute Intermittent
Constipation, Urinary retention, Hepatocellular carcinoma, Vomiting, Nausea, Dysuria, Urinary inc... OMIM:176000
Vesicoureteral Reflux 3
Hydronephrosis, Hydroureter, Vesicoureteral reflux OMIM:613674
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Feeding difficulties, Slender build, Nephrocalcinosis OMIM:611087
Meckel Syndrome, Type 8
Cleft palate, Microphthalmia, Anophthalmia, Abdominal distention, Hyperechogenic kidneys OMIM:613885
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrotic syndrome, Nephrocalcinosis, Ptosis, Renal dysplasia, Hematuria, Unilateral renal dyspla... OMIM:146255
Mixed-Type Autoimmune Hemolytic Anemia
Arthralgia, Fatigue, Abnormal urinary color, Skin rash ORPHA:90036
Familial Mediterranean Fever
Nephropathy, Diarrhea, Abdominal pain, Nausea and vomiting, Pericarditis, Nephrotic syndrome, Nep... ORPHA:342
Mental Retardation With Language Impairment And With Or Without Autistic Features
Feeding difficulties in infancy, Failure to thrive in infancy, Downslanted palpebral fissures, En... OMIM:613670
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Urinary incontinence, Low back pain OMIM:600142
Spastic Paraplegia 46, Autosomal Recessive
Head tremor, Urinary incontinence, Cataract OMIM:614409
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Feeding difficulties in infancy, Ptosis, Telecanthus, Astigmatism, Vesicour... OMIM:618548
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Nephrocalcinosis, Chronic oral candidiasis, Malabsorption, Chronic muco... OMIM:240300
Spastic Paraplegia 7, Autosomal Recessive
Optic atrophy, Dysphagia, Urinary urgency, Urinary bladder sphincter dysfunction, Urinary inconti... OMIM:607259
Brain-Lung-Thyroid Syndrome
Hypospadias, Failure to thrive, Megacystis, Intention tremor, Recurrent pneumonia, Vesicoureteral... ORPHA:209905
Genetic Recurrent Myoglobinuria
Myositis, Exercise-induced myalgia, Exercise-induced myoglobinuria, Dark urine, Acute kidney inju... ORPHA:99845
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatocellular carcinoma, Failure to thrive, Abdominal distention, Postexertional malaise, Protei... ORPHA:369
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Phakodonesis, Iris hypoperfusion, Retinal v... OMIM:177650
Lymphangioleiomyomatosis
Optic atrophy, Hematuria, Gastrointestinal hemorrhage, Renal angiomyolipoma, Fatigue, Multiple re... ORPHA:538
Perineural Cyst
Urinary bladder sphincter dysfunction, Abnormal large intestine physiology, Sciatica, Lower limb ... ORPHA:65250
Dopa-Responsive Dystonia
Vomiting, Pain, Fatigable weakness, Tremor, Urinary incontinence, Fatigue, Constipation ORPHA:255
Multiple System Atrophy 1, Susceptibility To
Urinary urgency, Ptosis, Orthostatic hypotension, Tremor, Iris atrophy, Urinary incontinence, Abn... OMIM:146500
Fatal Familial Insomnia
Dysphagia, Urinary retention, Weight loss, Constipation, Abnormal autonomic nervous system physio... OMIM:600072
Adiposis Dolorosa
Chronic pain, Abdominal distention, Arthralgia, Fatigue, Obesity, Constipation OMIM:103200
Hemolytic Anemia, Congenital, X-Linked
Dark urine OMIM:301015
Spinocerebellar Ataxia 10
Decreased nerve conduction velocity, Urinary incontinence, Urinary urgency, Dysphagia OMIM:603516
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, Sinusitis, Pneumonia, Bronchiectasis, Failure to thrive, Recurren... OMIM:601495
Unilateral Focal Polymicrogyria
Urinary incontinence, Abnormality of somatosensory evoked potentials ORPHA:268947
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Optic atrophy, Uraciluria, Microphthalmia OMIM:274270
Neuromyelitis Optica Spectrum Disorder
Nausea, Optic neuritis, Functional abnormality of the bladder, Ocular pain, Myelitis, Recurrent s... ORPHA:71211
Dent Disease 1
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Glycos... OMIM:300009
Spastic Paraplegia 15, Autosomal Recessive
Urinary urgency, Retinal degeneration, Urinary bladder sphincter dysfunction, Macular degeneratio... OMIM:270700
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder, Recurrent respiratory infections, Cataract ORPHA:2571
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Chronic sinusitis, ... OMIM:612692
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Nephropathy OMIM:613404
Cherubism
Optic neuropathy, Narrow palate, Marcus Gunn pupil, Lower eyelid retraction, Macular scar OMIM:118400
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Anterior polar cataract, Nephrotic syndrome, Nephrocalc... OMIM:104200
Glucose-Galactose Malabsorption
Vomiting, Failure to thrive, Hematuria, Abdominal distention, Weight loss, Nephrolithiasis, Hyper... ORPHA:35710
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Exercise-induced myalgia, Re... ORPHA:157
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Chronic constipation, Feeding difficulties in infancy, High palate, Congenital ptosis, Failure to... ORPHA:476126
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Hydronephrosis, Orthostatic hypotension, Slow pupillary light response, Failure to t... OMIM:191800
Autosomal Dominant Spastic Paraplegia Type 8
Urinary incontinence, Urinary urgency ORPHA:100989
3-Methylglutaconic Aciduria, Type I
Failure to thrive, 3-Methylglutaconic aciduria, Urinary incontinence, Optic atrophy OMIM:250950
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Large for gestational age, Median cleft palate, Corneal opacity, Rec... ORPHA:2432
Primary Hyperoxaluria
Optic atrophy, Optic disc pallor, Nephrocalcinosis, Hyperoxaluria, Calcium oxalate nephrolithiasi... ORPHA:416
C Syndrome
Renal cortical cysts, High palate, Failure to thrive, Upslanted palpebral fissure, Epicanthus OMIM:211750
Acrocephalopolydactyly
Protuberant abdomen, Epicanthus, Abnormal renal morphology ORPHA:221054
Acute Zonal Occult Outer Retinopathy
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... ORPHA:284454
Drug-Induced Autoimmune Hemolytic Anemia
Fatigue, Abnormal urinary color ORPHA:90037
Distal Renal Tubular Acidosis
Hyperphosphaturia, Bone pain, Aminoaciduria, Vomiting, Nephrocalcinosis, Failure to thrive, Proxi... ORPHA:18
Spinocerebellar Ataxia 17
Urinary incontinence, Dysphagia, Intention tremor OMIM:607136
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Optic atrophy, Feeding difficulties in infancy, Develo... OMIM:615663
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Renal potassium wasting, Renal magnesium wasting, Nephrocalcinosis ORPHA:564178
Autosomal Recessive Spastic Paraplegia Type 46
Head tremor, Urinary incontinence, Cataract ORPHA:320391
Intellectual Disability-Strabismus Syndrome
Hypospadias, Highly arched eyebrow, Chronic constipation, High palate, Failure to thrive, Upslant... ORPHA:363528
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Nausea, Abdominal distention, Malabsorption, Dyspepsia, Abnormal small intestinal mucos... ORPHA:103907
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Urinary incontinence, Osteomyelitis OMIM:613115
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Cholangitis, Villous atrophy, Recurrent protozoan infections, Inf... OMIM:209920
Congenital Tufting Enteropathy
Villous atrophy, Corneal erosion, Vomiting, Failure to thrive, Abdominal distention, Weight loss,... ORPHA:92050
Familial Isolated Hyperparathyroidism
Hyperphosphaturia, Nephrocalcinosis, Abdominal symptom, Hypercalciuria, Renal insufficiency ORPHA:99879
Spastic Paraplegia 9A, Autosomal Dominant
Urinary urgency, Vomiting, Urinary incontinence, Hiatus hernia, Cataract, Gastroesophageal reflux OMIM:601162
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Paganini-Miozzo Syndrome
Feeding difficulties, Urinary incontinence, Downslanted palpebral fissures OMIM:301025
Microphthalmia, Isolated, With Cataract 1
Miosis, Microphthalmia, Cataract OMIM:156850
Hydrocephalus, Normal-Pressure, 1
Bowel incontinence, Urinary incontinence OMIM:236690
Bresek Syndrome
Renal hypoplasia, Cleft palate, Aganglionic megacolon, Microphthalmia, Renal dysplasia, Optic ner... ORPHA:85284
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Optic atrophy, Urinary incontinence, Dysphagia, Bowel incontinence OMIM:618868
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, V... ORPHA:47159
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Retinal dystrophy, Urinary incontinence, Obesity ORPHA:464282
Atresia Of Small Intestine
Vomiting, Failure to thrive, Feeding difficulties, Abdominal distention, Jejunal atresia, Intesti... ORPHA:1201
Oculocerebrodental Syndrome
Developmental cataract, Epicanthus, Nephrocalcinosis ORPHA:557003
Porphyria Variegata
Abnormal autonomic nervous system physiology, Constipation, Hepatocellular carcinoma, Nausea, Che... ORPHA:79473
Autosomal Recessive Spastic Paraplegia Type 77
Feeding difficulties in infancy, Ptosis, Detrusor sphincter dyssynergia, Intention tremor, Urinar... ORPHA:466722
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Nephrocalcinosis, Glycosuria, Large for gestational age, Aminoaciduria, Protei... OMIM:616026
Spinocerebellar Ataxia Type 25
Episodic abdominal pain, Urinary urgency, Vomiting ORPHA:101111
Al Amyloidosis
Abnormal salivary gland morphology, Dysphagia, Nephrotic syndrome, Macroglossia, Xerostomia, Abdo... ORPHA:85443
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Meningitis, Recurrent respiratory infections, Recurrent pneumonia OMIM:613500
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Small for gestational age, Failure to thrive, Decreased nerve conduction velocity, Urinary incont... OMIM:604320
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Mydriasis, Abnormal cranial nerve morphology, Pneumoni... ORPHA:79138
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Failure... OMIM:616022
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Exercise-induced myalgia, Red-brown urine, Episodic abdominal pain, Myalgia, Hepat... ORPHA:228305
Spinocerebellar Ataxia 25
Urinary urgency, Vomiting OMIM:608703
Amyotrophic Dystonic Paraplegia
Bowel incontinence, Urinary incontinence OMIM:105300
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
3-Methylglutaconic Aciduria Type 7
Opisthotonus, Nephrocalcinosis, Feeding difficulties, Renal cyst, Cataract, 3-Methylglutaconic ac... ORPHA:445038
Myxopapillary Ependymoma
Neck pain, Autonomic bladder dysfunction, Abnormal large intestine physiology, Vomiting ORPHA:251643
Adult-Onset Distal Myopathy Due To Vcp Mutation
Facial diplegia, Decreased nerve conduction velocity, Back pain, Tremor, Myalgia, Urinary inconti... ORPHA:329478
Duplication Of Urethra
Hypospadias, Bladder duplication, Micropenis, Rectourethral fistula, Chordee, Pain, Anal atresia,... ORPHA:237
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, High, narrow palate, Myoglobinuria, Tubulointerstitial nephritis, Red-bro... ORPHA:228308
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Nephropathy OMIM:208085
Primary Hyperoxaluria Type 2
Ureteral obstruction, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Recurrent urinary tract i... ORPHA:93599
Anterior Cutaneous Nerve Entrapment Syndrome
Recurrent infection of the gastrointestinal tract, Anorexia, Nausea, Abdominal distention, Back p... ORPHA:51890
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Diarrhea, Vomiting, Abdominal colic ORPHA:35122
Secondary Short Bowel Syndrome
Sepsis, Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Fai... ORPHA:95427
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... ORPHA:93101
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the ... ORPHA:137902
Mitochondrial Membrane Protein-Associated Neurodegeneration
Optic atrophy, Dysphagia, Hand tremor, Urinary incontinence, Bowel incontinence ORPHA:289560
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria, Abdominal pain OMIM:600989
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Corneal erosion, Rectovaginal fistula, Abdominal distention, Optic disc col... OMIM:270420
Fabry Disease
Lipiduria, Tenesmus, Vomiting, Nausea, Urinary mulberry cells, Corneal dystrophy, Diarrhea, Prote... OMIM:301500
Hinman Syndrome
Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Bowel incont... ORPHA:84085
Erythermalgia, Primary
Keratoconjunctivitis sicca, Erythromelalgia, Xerostomia, Pain, Jaw pain, Myalgia, Diarrhea, Const... OMIM:133020
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Urinary incontinence, Hypermyelinated retinal nerve fibers, Dysphagia, Intention tremor ORPHA:98
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis OMIM:614473
Bladder Diverticulum
Urethral sphincter sclerosis, Urinary hesitancy, Hematuria, Dysuria, Recurrent urinary tract infe... OMIM:109820
Parkinson Disease, Late-Onset
Dysphagia, Urinary urgency, Tremor, Resting tremor, Constipation, Abnormal autonomic nervous syst... OMIM:168600
Mirizzi Syndrome
Anorexia, Chills, Vomiting, Nausea, Abdominal distention, Pancreatitis, Dark urine, Abdominal col... ORPHA:521219
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Abnormal autonomic nervous system physiology, Optic atrophy, Constipation, Neurogenic bladder ORPHA:466934
Autosomal Dominant Centronuclear Myopathy
Pyloric stenosis, Ptosis, Exercise-induced myalgia, Large for gestational age, Urinary incontinence ORPHA:169189
Machado-Joseph Disease
Dysphagia, Chronic pain, Urinary bladder sphincter dysfunction, Ptosis, Abnormal autonomic nervou... OMIM:109150
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Tremor, Urinary incontinence OMIM:617145
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
High palate, Nephrocalcinosis, Renal cyst, Large for gestational age, Ureteral stenosis, Hypercal... OMIM:615398
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Optic atrophy, Dysphagia, Broad eyebrow, Chorioretinal coloboma, Microphthalmia, Pto... ORPHA:494344
Pierpont Syndrome
Narrow palpebral fissure, Microphthalmia, Failure to thrive, Feeding difficulties, Telecanthus, M... OMIM:602342
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... ORPHA:976
Hypophosphatemic Rickets, X-Linked Recessive
Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Renal phosphate wasting, Low-molecular-w... OMIM:300554
2Q24 Microdeletion Syndrome
Cleft palate, Microphthalmia, Small for gestational age, Abnormality iris morphology, Failure to ... ORPHA:1617
Autoimmune Hemolytic Anemia, Warm Type
Arthralgia, Fatigue, Abnormal urinary color ORPHA:90033
Hyperoxaluria, Primary, Type I
Optic atrophy, Optic neuropathy, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria... OMIM:259900
Adult Polyglucosan Body Disease
Urinary incontinence, Urinary bladder sphincter dysfunction, Neurogenic bladder ORPHA:206583
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Dependency on parenteral nutrition, Vomiting, Bronchiectasis, Abdominal distenti... OMIM:619445
Wieacker-Wolff Syndrome, Female-Restricted
Dysphagia, Cleft palate, Ptosis, Feeding difficulties, Facial palsy, Urinary incontinence OMIM:301041
Episodic Pain Syndrome, Familial, 3
Pain, Abnormal autonomic nervous system physiology OMIM:615552
Wolfram Syndrome
Optic atrophy, Feeding difficulties in infancy, Gastric ulcer, Abnormality of the urinary system,... ORPHA:3463
Hepatoerythropoietic Porphyria
Seborrhoeic blepharitis, Increased fecal porphyrin, Ectropion, Purple urine, Red-brown urine, Rec... ORPHA:95159
Ramos-Arroyo Syndrome
Abnormal autonomic nervous system physiology, Narrow palpebral fissure, Aganglionic megacolon, Fe... ORPHA:1051
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Tubulointerstitial fibrosis, Periodontitis, Diarrhea, Nephro... ORPHA:79259
Adult-Onset Autosomal Dominant Leukodystrophy
Dysphagia, Abnormal auditory evoked potentials, Urinary urgency, Head titubation, Urinary retenti... ORPHA:99027
Congenital Pancreatic Cyst
Anorexia, Vomiting, Abdominal distention, Pancreatitis, Abdominal pain ORPHA:313906
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Chorioretinal dysplasia, Microphthalmia OMIM:616335
Currarino Syndrome
Gastrointestinal obstruction, Horseshoe kidney, Chronic constipation, Sepsis, Rectovaginal fistul... OMIM:176450
Congenital Hypothyroidism
Sinusitis, Optic atrophy, Feeding difficulties in infancy, Macroglossia, Abdominal distention, Ne... ORPHA:442
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Sporadic Infantile Bilateral Striatal Necrosis
Dysphagia, Nasogastric tube feeding, Resting tremor, Urinary incontinence, Poor suck, Recurrent u... ORPHA:225147
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Microphthalmia, Upslanted palpebral fissure, Epicanthus, Cataract, Microcornea ORPHA:2528
Trichohepatoenteric Syndrome 1
Hypospadias, Villous atrophy, Small for gestational age, Failure to thrive, Bifid uvula, Downslan... OMIM:222470
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Increased renal tubular phosphate reabsorption, Conjunctival whitish salt-like deposits, Nephroca... OMIM:211900
Xq28 (MECP2) duplication
Dysphagia, Feeding difficulties in infancy, Failure to thrive, Functional abnormality of the blad... DECIPHER:45
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia, Orbital cyst OMIM:251505
Spinocerebellar Ataxia Type 42
Psoriasiform dermatitis, Dysphagia, Urinary urgency, Urinary incontinence, Resting tremor, Head t... ORPHA:458803
Myopathy, Myofibrillar, 7
Dysphagia, Facial palsy, Enuresis nocturna, Myalgia, Urinary incontinence, Tongue atrophy, Bowel ... OMIM:617114
Cerebrooculofacioskeletal Syndrome 2
Developmental cataract, Microphthalmia, Small for gestational age, Micropenis, Cataract OMIM:610756
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Acro-Renal-Ocular Syndrome
Horseshoe kidney, Aganglionic megacolon, Renal malrotation, Chorioretinal coloboma, Microphthalmi... ORPHA:959
Spinocerebellar Ataxia Type 13
Optic atrophy, Dysphagia, Optic disc pallor, Urinary urgency, Urinary incontinence, Titubation ORPHA:98768
Autosomal Dominant Spastic Paraplegia Type 12
Bowel incontinence, Urinary incontinence, Urinary urgency ORPHA:100993
Leukodystrophy, Hypomyelinating, 12
Abnormal autonomic nervous system physiology, Optic atrophy, Constipation, Neurogenic bladder OMIM:616683
Trisomy 20P
Hypospadias, Highly arched eyebrow, Hydronephrosis, Abnormality of the ureter, Ectopic anus, Upsl... ORPHA:261318
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Urinary incontinence OMIM:600795
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent oppo... ORPHA:911
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dysphagia, Abnormal cranial nerve morphology, Intention tremor, Macular degeneration, Resting tre... ORPHA:247234
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cleft palate, Microphthalmia, Ptosis, Recurrent otitis media, Multiple bladder diverticula, Prote... ORPHA:2728
Plague
Conjunctival hyperemia, Sepsis, Mydriasis, Inflammation of the large intestine, Chills, Fatigue, ... ORPHA:707
Neural Tube Defects, Susceptibility To
Urinary incontinence, Myelomeningocele OMIM:182940
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary retention, Dysuria, Polycystic ovaries, Acne, Urinary incontinence, Abnormality of the ur... ORPHA:2795
Indifference To Pain, Congenital, Autosomal Recessive
Urinary incontinence, Abnormal autonomic nervous system physiology OMIM:243000
Renal Tubular Acidosis Iii
Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis OMIM:267200
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Nephrolithiasis, Nephrocalcinosis, Hypercalciuria OMIM:601198
Peroxisome Biogenesis Disorder 14B
Urinary incontinence, Developmental cataract OMIM:614920
Isolated Biliary Atresia
Small for gestational age, Failure to thrive, Dark yellow urine, Decreased liver function, Xanthe... ORPHA:30391
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal... OMIM:260000
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Failure to thrive, Abnormal urine sodium concentration, Renal insufficiency, Hy... ORPHA:320
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation, Abnormal autonomic nervous system physiology OMIM:615548
Warburg Micro Syndrome 3
Optic atrophy, Developmental cataract, Microphthalmia, Shallow anterior chamber, Narrow palate, M... OMIM:614222
Foix-Alajouanine Syndrome
Colonic inertia, Urinary retention, Back pain, Functional abnormality of the bladder, Urinary inc... ORPHA:79093
Thymic Aplasia
Sinusitis, Sepsis, Chronic otitis media, Recurrent infections, Recurrent candida infections, Diar... ORPHA:83471
Mitchell Syndrome
Dysphagia, Abnormal autonomic nervous system physiology OMIM:618960
Parathyroid Carcinoma
Nausea and vomiting, Dysphagia, Mandibular pain, Constipation, Nephrocalcinosis, Weight loss, Ren... ORPHA:143
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Limb pain, Feeding difficulties, Pain, Gastrostomy tube feeding in i... ORPHA:512
Caribbean Parkinsonism
Orthostatic hypotension, Autonomic bladder dysfunction, Action tremor, Abnormal autonomic nervous... ORPHA:97355
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Nausea and vomiting, Episcleritis, Hematuria, Arthritis, Myalgia,... ORPHA:36412
Scorpion Envenomation
Myocarditis, Mydriasis, Chills, Vomiting, Miosis, Pain, Glycosuria, Tremor, Acute kidney injury, ... ORPHA:466677
Oculogastrointestinal Muscular Dystrophy
Cachexia, Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Ptosis, Spontaneous ... ORPHA:1876
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Microphthalmia, Anophthalmia, Sclerocornea, Long eyelashes, Epicanthus, Cataract, Mi... OMIM:615877
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Buphthalmos, High palate, Nephrocalcinosis, Failure to thrive, Feeding difficulties OMIM:618005
Childhood Disintegrative Disorder
Bowel incontinence, Urinary incontinence ORPHA:168782
Inflammatory Pseudotumor Of The Liver
Vomiting, Nausea, Abdominal distention, Weight loss, Neoplasm of the liver, Asthenia, Abdominal pain ORPHA:90003
Fanconi-Bickel Syndrome
Hyperphosphaturia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to thrive, Abdom... OMIM:227810
Colonic Atresia
Colonic atresia, Abdominal distention OMIM:303650
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Urinary incontinence OMIM:221770
Oculocerebrorenal Syndrome Of Lowe
Feeding difficulties in infancy, Buphthalmos, Chronic otitis media, Proximal renal tubular acidos... ORPHA:534
Fraser Syndrome 2
Renal hypoplasia, Renal agenesis, Aplasia of the bladder, Abdominal distention, Cryptophthalmos OMIM:617666
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... OMIM:142623
Skin Creases, Congenital Symmetric Circumferential, 2
Hypospadias, Cleft palate, Microphthalmia, Upslanted palpebral fissure, Epicanthus, Downslanted p... OMIM:616734
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal autonomic nervous system physiology, Hydronephrosis, High palate, Cleft palate, Ptosis, ... ORPHA:453499
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Nonarteritic anterior ischemic optic neuropathy, Urinary incontinence, Pseudobulbar paralysis OMIM:125310
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Dysphagia, Chronic constipation, Upslanted palpebral fissure, Feeding difficulties... ORPHA:496641
Megabladder, Congenital
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease OMIM:618719
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Intestinal pseudo-obstruction, Ptosis, Lacrimal duct stenosis, Fetal megacystis, Downslanted palp... ORPHA:73246
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
High, narrow palate, Morphological abnormality of the gastrointestinal tract, Nephrocalcinosis, A... ORPHA:369837
Renal Nutcracker Syndrome
Nausea, Orthostatic hypotension, Hematuria, Weight loss, Flank pain, Microscopic hematuria, Fatig... ORPHA:71273
Hereditary Motor And Sensory Neuropathy, Type Iic
Urinary incontinence, Decreased distal sensory nerve action potential, Urinary urgency OMIM:606071
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Dysphagia, Urinary incontinence, Decreased body weight, Thick eyebrow, Bowel incontinence OMIM:300243
Cap Polyposis
Colorectal polyposis, Constipation, Atrophic gastritis, Abdominal distention, Weight loss, Diarrh... ORPHA:160148
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Optic atrophy, Upslanted palpebral fissure, Feeding difficulties, Sparse eyebrow, Urinary inconti... OMIM:617193
Urofacial Syndrome 1
Urethral valve, Hydronephrosis, Recurrent urinary tract infections, Enuresis, Urethral obstructio... OMIM:236730
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Fragile X Tremor/Ataxia Syndrome
Postural tremor, Intention tremor, Myalgia, Urinary incontinence, Resting tremor, Action tremor, ... OMIM:300623
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Duodenal stenosis, Hydroureter, Abnormality of the upper urinary tract, Hypoplasi... ORPHA:2547
Acute Transverse Myelitis
Urinary bladder sphincter dysfunction, Urinary retention, Orthostatic hypotension, Gastroparesis,... ORPHA:139417
Schimke Immuno-Osseous Dysplasia
Focal segmental glomerulosclerosis, Abnormal intestine morphology, Minimal change glomerulonephri... ORPHA:1830
Huntington Disease-Like 3
Bowel incontinence, Urinary incontinence OMIM:604802
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Neoplasm of the gallbladder, Orthostatic hypotension due to autonomic dysfunction,... ORPHA:309271
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Feeding difficulties in infancy, Abdominal distention, Decreased nerve conduction ... ORPHA:309256
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Macroglossia, Cheilitis, Facial palsy, Furrowed tongue, Oli... ORPHA:2483
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Microphthalmia, Retinopathy, Cataract, Microco... OMIM:616171
Exstrophy-Epispadias Complex
Bladder duplication, Renal dysplasia, Bladder fistula, Penoscrotal transposition, Abnormality of ... ORPHA:322
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Abdominal distention, Decreased nerve conduction velocity, Intention tremor, Urina... ORPHA:309263
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Sepsis, Cholangitis, Recurrent herpes, Recurrent infections, Fatigue, Recurrent respiratory infec... ORPHA:183675
Selective Igm Deficiency
Sepsis, Severe varicella zoster infection, Non-infectious meningitis, Recurrent herpes, Fasciitis... ORPHA:331235
Chiari Malformation Type I
Neck pain, Urinary incontinence, Dysphagia OMIM:118420
Renal Tubular Acidosis, Distal, 1
Renal tubular acidosis, Nephrocalcinosis OMIM:179800
Pituitary Apoplexy
Mydriasis, Nausea and vomiting, Ptosis, Fatigue, Trigeminal neuralgia ORPHA:95613
Hyperparathyroidism-Jaw Tumor Syndrome
Nausea and vomiting, Dysphagia, Mandibular pain, Constipation, Nephrocalcinosis, Renal cyst, Neph... ORPHA:99880
Ficolin 3 Deficiency
Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection... OMIM:613860
Tyrosinemia, Type I
Renal Fanconi syndrome, Hepatocellular carcinoma, Nephrocalcinosis, Failure to thrive, Glomerular... OMIM:276700
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Bartter Syndrome, Type 2, Antenatal
Vomiting, Nephrocalcinosis, Increased urinary potassium, Small for gestational age, Hyperprostagl... OMIM:241200
Isolated Epispadias
Urinary incontinence, Anteriorly displaced urethral meatus, Epispadias, Vesicoureteral reflux ORPHA:93928
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Lower Urinary Tract Obstruction, Congenital
Urethral stenosis, Congenital posterior urethral valve, Pollakisuria, Urinary incontinence, Vesic... OMIM:618612
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Nephrogenic Diabetes Insipidus
Nausea and vomiting, Anorexia, Failure to thrive, Feeding difficulties, Enuresis nocturna, Functi... ORPHA:223
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Autosomal Dominant Hypocalcemia
Optic atrophy, Eczema, Nephrocalcinosis, Fatigable weakness, Hypermagnesiuria, Hypercalciuria, Ab... ORPHA:428
Epidermolysis Bullosa Simplex With Pyloric Atresia
Hydronephrosis, Aplasia of the bladder, Vomiting, Abnormality of the urinary system, Renal dyspla... ORPHA:158684
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Micropenis, Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:613870
Hanac Syndrome
Hematuria, Retinal vascular tortuosity, Renal insufficiency, Multiple renal cysts ORPHA:73229
Sandhoff Disease
Cherry red spot of the macula, Macroglossia, Orthostatic hypotension, Exaggerated startle respons... OMIM:268800
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Congenital Erythropoietic Porphyria
Seborrhoeic blepharitis, Increased fecal coproporphyrin 1, Ectropion, Purple urine, Red-brown uri... ORPHA:79277
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Recurrent otitis media, Chronic sinusitis, Recurrent pneumonia, R... OMIM:613502
Huntington Disease-Like 3
Bowel incontinence, Urinary incontinence ORPHA:157946
Bartter Syndrome, Type 1, Antenatal
Vomiting, Nephrocalcinosis, Increased urinary potassium, Small for gestational age, Hyperprostagl... OMIM:601678
Trisomy 13
High, narrow palate, Hydronephrosis, Abnormality of the ureter, Cleft palate, Optic atrophy, Micr... ORPHA:3378
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:329284
Basal Ganglia Calcification, Idiopathic, 1
Tremor, Urinary incontinence OMIM:213600
Marchiafava-Bignami Disease
Malnutrition, Urinary incontinence, Facial palsy, Vomiting ORPHA:221074
Prune Belly Syndrome
Abnormality of the ureter, Congenital posterior urethral valve, Failure to thrive, Volvulus, Inte... ORPHA:2970
Glycogen Storage Disease Ib
Recurrent bacterial infections, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Lip... OMIM:232220
Athyreosis
Macroglossia, Feeding difficulties, Abdominal distention, Fatigue, Constipation ORPHA:95713
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Autosomal Dominant Spastic Paraplegia Type 9A
Developmental cataract, Urinary urgency, Pollakisuria, Tremor, Urinary incontinence, Lower limb p... ORPHA:447753
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Colonic diverticula, Retinal detachment, Small bowel diverticula, Bladder diverticulum OMIM:223330
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Microphthalmia, Chorioretinal coloboma, Anophthalmia, Iris coloboma OMIM:616428
Cockayne Syndrome
Feeding difficulties in infancy, Abnormal renal physiology, Gastrostomy tube feeding in infancy, ... ORPHA:191
Lead Poisoning
Renal tubular dysfunction, Tubulointerstitial nephritis, Anorexia, Vomiting, Abdominal cramps, Na... ORPHA:330015
Faciothoracogenital Syndrome
Microphthalmia, Glandular hypospadias OMIM:227320
Postinfectious Vasculitis
Severe varicella zoster infection, Chills, Recurrent candida infections, Abdominal pain, Inflamma... ORPHA:48435
Nephronophthisis 20
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Nephrolithiasis, Medullary nephrocalcinosis, Hypercalciuria, Bone pain ORPHA:157215
Thomas Syndrome
Multicystic kidney dysplasia, Cleft palate, Renal hypoplasia/aplasia, Downslanted palpebral fissures ORPHA:3316
Adrenoleukodystrophy
Bowel incontinence, Urinary incontinence, Urinary bladder sphincter dysfunction OMIM:300100
Microcephaly 20, Primary, Autosomal Recessive
Hyperechogenic kidneys, Renal hypoplasia, Optic nerve hypoplasia, Microphthalmia OMIM:617914
Sepsis In Premature Infants
Vomiting, Small for gestational age, Functional abnormality of the gastrointestinal tract, Gastro... ORPHA:90051
Obesity Due To Sim1 Deficiency
Obesity, Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system ph... ORPHA:369873
Encephalitis Lethargica
Limb pain, Recurrent viral infections, Tremor, Myalgia, Urinary incontinence, Bowel incontinence ORPHA:83600
Juvenile Amyotrophic Lateral Sclerosis
Dysphagia, Cachexia, Opisthotonus, Head titubation, Gastrostomy tube feeding in infancy, Urinary ... ORPHA:300605
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Failure to thrive, Weight loss, Diarrhea, Nocturia ORPHA:178029
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Multiple System Atrophy
Postural tremor, Orthostatic hypotension due to autonomic dysfunction, Resting tremor, Autonomic ... ORPHA:102
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Unilateral ptosis, Anal atresia, Unilateral microphthalmos, Bilateral microphth... OMIM:619318
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Foot osteomyelitis, Abnormal autonomic nervous system ... ORPHA:139578
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Microphthalmia, Chorioretinal coloboma, Retinal dystrophy, Miosis, Iris coloboma... OMIM:212550
Joubert Syndrome 14
Highly arched eyebrow, Microphthalmia, Morning glory anomaly, Ptosis, Epicanthus, Renal cyst, Dow... OMIM:614424
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Abnormal autonomic nervous system physiology OMIM:300894
Biemond Syndrome Type 2
Hypospadias, Obesity, Microphthalmia ORPHA:141333
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Williams-Beuren Syndrome
Feeding difficulties in infancy, Rectal prolapse, Micropenis, Enuresis, Hypercalciuria, Medial fl... OMIM:194050
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Urinary urgency OMIM:605909
Spastic Paraplegia Type 2
Optic atrophy, Bowel incontinence, Recurrent respiratory infections, Spastic/hyperactive bladder ORPHA:99015
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Impaired renal concentrating ability, Enuresis, Polyuria, Renal insufficiency OMIM:204690
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Nephrocalcinosis, Macroglossia, Nephrolithiasis, Hepatoblastoma, Vesicouret... OMIM:130650
Familial Dysautonomia
Optic atrophy, Feeding difficulties in infancy, Corneal erosion, Orthostatic hypotension, Renal i... ORPHA:1764
Shwachman-Diamond Syndrome 1
Small for gestational age, Nephrocalcinosis, Failure to thrive, Recurrent infections, Steatorrhea OMIM:260400
Adrenomyeloneuropathy
Abnormality of central somatosensory evoked potentials, Urinary urgency, Urinary bladder sphincte... ORPHA:139399
Fragile X-Associated Tremor/Ataxia Syndrome
Dysphagia, Urinary bladder sphincter dysfunction, Pollakisuria, Intention tremor, Myalgia, Bowel ... ORPHA:93256
Roussy-Lévy Syndrome
Postural tremor, Decreased motor nerve conduction velocity, Urinary bladder sphincter dysfunction ORPHA:3115
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Duplicated collecting system OMIM:617093
Autosomal Recessive Spastic Paraplegia Type 15
Pseudobulbar paralysis, Hand tremor, Retinal flecks, Functional abnormality of the bladder, Pigme... ORPHA:100996
Blepharophimosis-Impaired Intellectual Development Syndrome
Hypospadias, Highly arched eyebrow, Narrow palpebral fissure, Sparse eyelashes, Ptosis, Recurrent... OMIM:619293
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Sinusitis, Rec... ORPHA:572
Seckel Syndrome 2
Hypospadias, Microphthalmia, Small for gestational age, Microglossia, Ectopic kidney OMIM:606744
Joubert Syndrome 35
Highly arched eyebrow, Hydronephrosis, Ptosis, Telecanthus, Rod-cone dystrophy, Recurrent urinary... OMIM:618161
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Men... OMIM:240500
Joubert Syndrome 5
Renal cortical cysts, Retinal coloboma, Nephronophthisis, Stage 5 chronic kidney disease, Rod-con... OMIM:610188
Trisomy X
Upslanted palpebral fissure, Epicanthus, Tremor, Multicystic kidney dysplasia, Renal hypoplasia/a... ORPHA:3375
Bardet-Biedl Syndrome 4
Retinal degeneration, Renal cyst, Rod-cone dystrophy, Obesity, Abnormality of the kidney OMIM:615982
Congenital Disorder Of Glycosylation, Type Iit
Feeding difficulties, Downslanted palpebral fissures, Urinary incontinence, Astigmatism, Constipa... OMIM:618885
Multiple System Atrophy, Cerebellar Type
Postural tremor, Orthostatic hypotension due to autonomic dysfunction, Resting tremor, Autonomic ... ORPHA:227510
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypoplasia of penis, Gastroesophageal reflux, Abnormal autonomic nervous system physiology ORPHA:168593
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Optic nerve hypoplasia, Absent brainstem auditory responses, Decreased nerve conduct... ORPHA:101085
Thyroid Hemiagenesis
Macroglossia, Abdominal distention, Constipation, Fatigue ORPHA:95719
Neuroleptic Malignant Syndrome
Rigors, Sepsis, Dysphagia, Myoglobinuria, Vomiting, Nasogastric tube feeding, Nausea, Tremor, Acu... ORPHA:94093
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, ... ORPHA:85450
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Failure to thrive, Recurrent ... ORPHA:275
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Hypospadias, Microscopic nephrocalcinosis, Recurrent bronchopulmonary infections, Telecanthus, Ga... OMIM:219721
Adnp Syndrome
Vomiting, Bilateral ptosis, Juvenile cataract, Gastrostomy tube feeding in infancy, Slanting of t... ORPHA:404448
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent bacterial infections, Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoder... OMIM:307200
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Orthostatic hypotension due to autonomic dysfunction, Resting tremor, Autonomic ... ORPHA:98933
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Head titubation, Gastroparesis, Tremor, Urinary incontinence, Bowel incontinence OMIM:618877
Meckel Syndrome, Type 10
Hypospadias, Narrow palpebral fissure, Cleft palate, Ptosis, Renal cyst, Epicanthus, Micropenis OMIM:614175
Pseudoxanthoma Elasticum
High palate, Retinal hemorrhage, Nephrocalcinosis, Acne, Gastrointestinal hemorrhage, Retinopathy... ORPHA:758
Ring Chromosome 10 Syndrome
Cachexia, Aganglionic megacolon, Microphthalmia, Downslanted palpebral fissures, Renal hypoplasia... ORPHA:1438
Castleman Disease
Ureteral obstruction, Nausea and vomiting, Constitutional symptom, Hematuria, Abdominal distentio... ORPHA:160
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea, Posterior embryotoxon, Axenfeld anomaly, Foveal hyperpig... OMIM:609218
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Feeding difficulties in infancy, Renal cyst OMIM:614870
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections OMIM:614868
Immunodeficiency, Common Variable, 1