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Gene: Zdhhc5 MGI:1923573

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Gene Summary

Name:
zinc finger, DHHC domain containing 5
Synonyms:
Zisp,  1110032A17Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
shortened PR interval Zdhhc5tm1e.1(EUCOMM)Hmgu HOM Early adult 9.82×10-05
abnormal retina morphology Zdhhc5tm1e.1(EUCOMM)Hmgu HOM Early adult 7.90×10-13
abnormal retina vasculature morphology Zdhhc5tm1e.1(EUCOMM)Hmgu HOM Early adult 1.22×10-06
abnormal auditory brainstem response Zdhhc5tm1e.1(EUCOMM)Hmgu HOM   Early adult 8.64×10-05
polycystic kidney Zdhhc5tm1e.1(EUCOMM)Hmgu HOM Early adult 0.00
increased mean platelet volume Zdhhc5tm1e.1(EUCOMM)Hmgu HOM Early adult 1.55×10-15
decreased total retina thickness Zdhhc5tm1e.1(EUCOMM)Hmgu HOM Early adult 5.53×10-12
decreased startle reflex Zdhhc5tm1e.1(EUCOMM)Hmgu HOM Early adult 2.61×10-08

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Viewing: all phenotypes

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

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Zdhhc5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Zdhhc5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Nephronophthisis 14
Polycystic kidney dysplasia, Retinal degeneration, Nephronophthisis OMIM:614844
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... OMIM:617610
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Epistaxis, Abnormality of the kidney, Myocardial infarction, Sensorin... OMIM:155100
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Myocardial infarction, Increa... ORPHA:182050
Bardet-Biedl Syndrome 10
Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy, Renal cyst OMIM:615987
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume OMIM:615193
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Iron deficiency anemia, Neutropenia, Progressive sensorineural he... ORPHA:494444
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... OMIM:314050
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Rod-cone dystrop... OMIM:615993
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Hanac Syndrome
Retinal vascular tortuosity, Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... OMIM:620056
Meckel Syndrome 13
Retinopathy, Polycystic kidney dysplasia OMIM:617562
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia OMIM:137560
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, EEG w... OMIM:261740
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Epistaxis, Thrombocytopenia, Giant platelets, Macrothrombocytopenia,... OMIM:231200
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Aortic valve stenosis, Polycystic kidney dys... OMIM:615382
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... OMIM:616648
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Optic disc pallor, Tremor, Optic atrophy, Shortened PR interval, ... OMIM:614947
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Bardet-Biedl Syndrome 4
Renal cyst, Rod-cone dystrophy, Abnormality of the kidney, Retinal degeneration OMIM:615982
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Slc35A1-Cdg
Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia, Pulmonary hemorrhage ORPHA:238459
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Supraventricular arrhythmia, Retinal arteriolar tortuosity, Raynaud phenomen... OMIM:611773
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D... OMIM:618061
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Decreased urinary potassium, Tremor, Shortened PR interval, Impaired myoca... ORPHA:79102
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Urinary incontinence, Subarachnoid hemorrha... OMIM:232300
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia, Hydronephrosis, Low-set ears OMIM:300048
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Hypsarrhythmia, Sick sinus syndrome, Bradycardia, Prolonged PR interva... ORPHA:542306
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy, Choreoathetosis, Retinal degeneration OMIM:257970
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Shortened PR interval, Heart murmur, Oligosaccharidur... ORPHA:308552
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impa... OMIM:153670
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Optic disc coloboma, Optic nerve dysplasia, Re... ORPHA:1475
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Bradycardia, Abnormal QRS complex, Hearing impairment OMIM:614896
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Panc... OMIM:263200
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hypertension, Mitral regurgitation, Polycystic kidney dysplasia, Hepatic cysts OMIM:173900
Senior-Loken Syndrome 7
Retinal degeneration, Nephronophthisis OMIM:613615
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... OMIM:600501
Takenouchi-Kosaki Syndrome
Hypospadias, Posteriorly rotated ears, Unilateral renal agenesis, Increased mean platelet volume,... OMIM:616737
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension, Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Bernard-Soulier Syndrome
Partially duplicated kidney, Spontaneous, recurrent epistaxis, Gastrointestinal hemorrhage, Hemat... ORPHA:274
Rhyns Syndrome
Multicystic kidney dysplasia, Rod-cone dystrophy, Nephronophthisis, Hearing impairment ORPHA:140976
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Meckel Syndrome, Type 8
Low-set ears, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... OMIM:620066
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Sensorineural hearing impairment, Macrothrombocytopenia, Thrombocy... OMIM:124900
Branchiootorenal Syndrome 1
Renal malrotation, Mixed hearing impairment, Facial palsy, Unilateral renal agenesis, Dilatated i... OMIM:113650
Peroxisome Biogenesis Disorder 3A (Zellweger)
Low-set ears, Polycystic kidney dysplasia OMIM:614859
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Papillorenal Syndrome
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc... OMIM:120330
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... OMIM:145001
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia OMIM:616176
Joubert Syndrome 16
Retinal dystrophy, Renal cyst, Nephronophthisis OMIM:614465
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Cardiomyopa... ORPHA:1215
Arima Syndrome
Retinal dystrophy, Proteinuria, Polyuria, Optic atrophy, Stage 5 chronic kidney disease, Hematuri... OMIM:243910
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hyperten... OMIM:613095
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Posteriorly rotated ears, Hemolytic-uremic syndrome, Thrombocyt... OMIM:611209
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Tremor, Sensorineural hearing impairme... ORPHA:52368
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Long penis, Abnormal localization of kidney, Microtia, Polycystic kidne... ORPHA:1988
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentials, Geogra... OMIM:619260
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Hypospadias, Splenomegaly, Sensorineural hearing i... OMIM:614866
Joubert Syndrome 20
Retinopathy, Renal cyst OMIM:614970
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Pigmentary retinopathy, Aminoaciduria, Hypoplasia of the thymus, Abnormal ... OMIM:214110
Attrv30M Amyloidosis
Vitreous floaters, Atrioventricular block, Cardiomyopathy, Abnormal autonomic nervous system phys... ORPHA:85447
Glycogen Storage Disease Due To Acid Maltase Deficiency
Transient ischemic attack, Vasculitis, Shortened PR interval, Left ventricular outflow tract obst... ORPHA:365
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Congenital Disorder Of Glycosylation, Type Il
Low-set ears, Polycystic kidney dysplasia, Hepatosplenomegaly OMIM:608776
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic kidney dysplasia OMIM:211890
Hepatorenocardiac Degenerative Fibrosis
Portal hypertension, Hypersplenism, Renal cyst, Hepatosplenomegaly, Hypertrophic cardiomyopathy, ... OMIM:619902
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Nathalie Syndrome
Abnormal EKG, Hearing impairment OMIM:255990
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Low-set ears... ORPHA:261290
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy, Hypospadias, Renal cyst OMIM:605231
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Distal Triplication 15Q
Abnormality of the kidney, Sensorineural hearing impairment, Cupped ear, Dilatation of the renal ... ORPHA:314588
Gillessen-Kaesbach-Nishimura Syndrome
Large fleshy ears, Low-set ears, Polycystic kidney dysplasia, Posteriorly rotated ears OMIM:263210
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Renal insufficiency, Posteriorly rotated ears, Long-chain dicarboxylic acid... OMIM:608836
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Cardiomyopathy, Nephropathy, Abnormal renal tu... ORPHA:1909
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hypospadias, Increased mean platelet volume, Splenomegaly, Galactosuria, Mi... OMIM:222470
Joubert Syndrome 39
Retinal dystrophy, Polycystic kidney dysplasia OMIM:619562
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Polycystic kidney dysplasia, Ves... ORPHA:2237
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Polyuria, Stag... OMIM:615994
Multiple Acyl-Coa Dehydrogenase Deficiency
Abnormal pinna morphology, Glutaric aciduria, Congestive heart failure, Lacticaciduria, Cardiomyo... ORPHA:26791
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Multiple Acyl-Coa Dehydrogenase Deficiency
Abnormal pinna morphology, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Pr... OMIM:231680
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... ORPHA:157
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Heart block, Red-brown urine, Renal tubular epithelia... ORPHA:228308
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Hypospadias, Unilateral renal agenesis, Increased mean platele... ORPHA:487796
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Syndromic Diarrhea
Aortic regurgitation, Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Hypoplasia ... ORPHA:84064
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Portal hypertension, Pancreatic cysts, Asplenia, Splenomegaly, Stage 5 chron... OMIM:208540
Thrombocytopenia 3
Thrombocytopenia, Epistaxis, Decreased mean platelet volume OMIM:273900
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy OMIM:616881
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Neutropenia, Nephropathy,... OMIM:617056
Lathosterolosis
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Horseshoe ki... OMIM:607330
Joubert Syndrome 35
Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal fibrosis, Low-set ears, R... OMIM:618161
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T... ORPHA:101016
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Anemia, Renal... OMIM:613550
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst OMIM:614091
Trisomy X
Tremor, Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Cystic Hamartoma Of Lung And Kidney
Hypertension, Multicystic kidney dysplasia ORPHA:2111
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased p... OMIM:603585
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Gastrointestinal hemorrhage, Normocytic anemia, Proteinuria, Abnormal r... ORPHA:247691
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts ORPHA:3033
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Hypochromic microcyti... ORPHA:3240
Joubert Syndrome 7
Retinal dystrophy, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Peroxisome Biogenesis Disorder 6A (Zellweger)
Low-set ears, Renal cyst OMIM:614870
Coach Syndrome 1
Optic disc pallor, Unilateral renal agenesis, Portal hypertension, Splenomegaly, Multiple small m... OMIM:216360
Tuberous Sclerosis Complex
Renal insufficiency, Retinal astrocytic hamartoma, Abnormality of the kidney, Retinal hamartoma, ... ORPHA:805
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... ORPHA:99106
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy, Carnosinuria OMIM:309930
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Thrombocytopenia 1
Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Joint hemorrhage, Conge... OMIM:313900
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... ORPHA:85451
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Portal hypertension, Pancreatic cysts, Splenomegaly, Sensorineural hearing impairment, Renal cyst... OMIM:610199
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Protruding ear, Polycystic kidney dysplasia, Vesicoureteral reflux, Ma... OMIM:606232
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Low-set ears, Micropenis, Retinal coloboma, Polycystic kidney dysplasia OMIM:616546
Bardet-Biedl Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplasia, Pigmentary ... ORPHA:110
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Von Hippel-Lindau Disease
Papilledema, Retinal detachment, Hypertensive retinopathy, Elevated urinary catecholamine level, ... ORPHA:892
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Renal insufficiency, Portal hype... ORPHA:731
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... OMIM:256100
Wild Type Attr Amyloidosis
Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ... ORPHA:330001
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Optic atrophy, Cardiomyopathy ORPHA:1177
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Renal insufficiency, Proteinuria, Tremor, Optic atrophy, Ane... ORPHA:90321
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Hypospadias, Aganglionic megacolon, Abnormality of thrombocytes, Ret... ORPHA:567
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Abnorm... ORPHA:107
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Multiple renal cysts ORPHA:2924
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Optic atrophy OMIM:609541
Neuromuscular Oculoauditory Syndrome
Posteriorly rotated ears, Simple ear, Chorioretinal lacunae, Retinal pigment epithelial mottling,... OMIM:618733
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... OMIM:610205
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia, Protruding ear ORPHA:3270
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Tricuspid regurgitation, Retinal dystrophy, Polycystic kidney dysplasia OMIM:263520
Ogden Syndrome
Global glomerulosclerosis, Torticollis, Polycythemia, Thrombocytopenia, Ventricular tachycardia, ... OMIM:300855
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Nephronophthisis-Like Nephropathy 1
Kinetic tremor, Tubular basement membrane disintegration, Pancreatic cysts, Sensorineural hearing... OMIM:613159
Meckel Syndrome 14
Low-set ears, Mitral regurgitation, Tricuspid regurgitation, Polycystic kidney dysplasia OMIM:619879
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Genitopalatocardiac Syndrome
Low-set ears, Hypospadias, Renal cyst OMIM:231060
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Caroli Syndrome
Abnormality of the kidney, Portal hypertension, Hematemesis, Hypersplenism, Leukocytosis, Melena,... ORPHA:480520
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Macrotia, Renal cyst, Heart murmur, Horseshoe kidney, Low-set ears, Rod-cone dystrophy, Retinal d... ORPHA:166035
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy ORPHA:320406
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Orthostatic hypotension, Abnormal auditory evoked potentials,... ORPHA:99027
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Increased RBC distribution width, Epistaxis, Macrothrombocytopenia, ... OMIM:187900
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Abnormal pinna morphology, Sensorineural hearing impai... DECIPHER:81
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... ORPHA:97362
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Choroidal neovascularization, Optic neuropathy, Retinal cryst... OMIM:259900
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Urinary incontinence, Optic nerve hypoplasia, Decreased nerv... ORPHA:101085
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Hearing impairment OMIM:619074
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Renal cyst, Protruding ear, Chor... ORPHA:2031
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis, Decreased mean platelet volume, Hematochezia, Subconjunctival hemorrhage, Lymphocytos... OMIM:617718
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Macrotia, Renal cyst, Horseshoe kidney, Hypoautofluorescent retinal lesion, Low-set ears, Rod-con... OMIM:250410
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Sensorineural hearing impairment, Optic atrophy, Renal cyst, Rod-cone dystrophy OMIM:601539
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Orofaciodigital Syndrome I
Proteinuria, Pancreatic cysts, Ovarian cyst, Hypertension, Polycystic kidney dysplasia, Low-set e... OMIM:311200
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Mitral regurgitation, Exaggerated startle response, Hepatosplenome... ORPHA:309155
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Renal cyst, Opisthotonus, Nephrocalcinosis, Cardiomyopathy, Choreoathetosis,... ORPHA:445038
Caroli Disease
Portal hypertension, Splenomegaly, Leukocytosis, Polycystic kidney dysplasia ORPHA:53035
Trisomy 13
Abnormal retinal vascular morphology, Sensorineural hearing impairment, Abnormality of the ureter... ORPHA:3378
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Protruding ear, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Cockayne Syndrome A
Renal insufficiency, Retinal atrophy, Proteinuria, Abnormal pinna morphology, Abnormal auditory e... OMIM:216400
Verheij Syndrome
Renal agenesis, Optic nerve hypoplasia, Renal cyst, Renal hypoplasia OMIM:615583
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Distal Deletion 12Q
Ectopic kidney, Prominent ear helix, Microtia, Bilateral conductive hearing impairment, Polycysti... ORPHA:96149
Von Hippel-Lindau Syndrome
Pancreatic cysts, Sensorineural hearing impairment, Hypertension, Renal cell carcinoma, Multiple ... OMIM:193300
Say Syndrome
Macrotia, Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Gm2 Gangliosidosis, Ab Variant
Cherry red spot of the macula, Exaggerated startle response, Dystonia ORPHA:309246
Gitelman Syndrome
Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Iron deficiency ... ORPHA:358
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Stiff-Person Syndrome
Tachycardia, Exaggerated startle response, Opisthotonus, Hypertension, Anemia OMIM:184850
Joubert Syndrome 14
Posteriorly rotated ears, Morning glory anomaly, Optic atrophy, Renal cyst, Intracranial hemorrha... OMIM:614424
Mckusick-Kaufman Syndrome
Hydroureter, Aganglionic megacolon, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydroneph... OMIM:236700
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Abnormal EKG, Abnormality of the kidney, Optic atrophy, Telangiectasia, ... ORPHA:93400
Hajdu-Cheney Syndrome
Hypospadias, Renal cyst, Large earlobe, Low-set ears, Polycystic kidney dysplasia, Conductive hea... OMIM:102500
Acrorenal-Mandibular Syndrome
Renal agenesis, Posteriorly rotated ears, Abnormality of the ureter, Aplasia of the bladder, Low-... OMIM:200980
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomyopathy, Renal ... OMIM:614922
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Proteinuria, Tremor, Macrotia, Renal cyst, Nephrotic syndrome, Cardiomyopathy, Prox... OMIM:212065
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Sensorineural hearing impairme... OMIM:220500
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen... ORPHA:79330
Friedreich Ataxia
Abnormal EKG, Congestive heart failure, Optic atrophy, Hypertrophic cardiomyopathy, Decreased sen... OMIM:229300
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Tricuspid regurgitation, Sensorineural hearing impairment, Renal hypoplasia... OMIM:618460
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Prolonged PR interval OMIM:108900
Bardet-Biedl Syndrome 12
Hydronephrosis, Rod-cone dystrophy, Cystic renal dysplasia, Hydroureter OMIM:615989
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Renal insufficiency, Proteinuria, Abnormality of the k... ORPHA:85443
Cockayne Syndrome B
Renal insufficiency, Proteinuria, Abnormal pinna morphology, Abnormal auditory evoked potentials,... OMIM:133540
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal cyst, Ureteral agenesis, Low-set ears, Renal dysplasia OMIM:236500
Roberts Syndrome
External ear malformation, Long penis, Polycystic kidney dysplasia, Absent earlobe, Thrombocytopenia ORPHA:3103
Meckel Syndrome, Type 1
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Asplenia, Splenomegaly, Abnormality ... OMIM:249000
Tay-Sachs Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:272800
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... ORPHA:2044
Mody
Abnormality of the kidney, Elevated hemoglobin A1c, Renal cyst, Glycosuria, Nephropathy, Retinopathy ORPHA:552
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
Joubert Syndrome 1
Optic disc pallor, Retinal dystrophy, Optic disc coloboma, Renal cyst, Retinal dysplasia, Chorior... OMIM:213300
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response, Urinary incontinence, Hepatosplenomegaly, ... OMIM:268800
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Renal cyst, Abnor... ORPHA:1834
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Multifocal epileptiform discharges, N... OMIM:615398
Joubert Syndrome 18
Renal cyst, Horseshoe kidney OMIM:614815
Fanconi Anemia, Complementation Group O
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst OMIM:613390
Zellweger Syndrome
Multicystic kidney dysplasia, Abnormal chorioretinal morphology, Hypospadias, External ear malfor... ORPHA:912
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Macrotia, Optic nerve hypoplasia, EEG with generalized slow activity OMIM:617864
Immunodeficiency 96
Conjunctival telangiectasia, Multicystic kidney dysplasia, Increased mean corpuscular volume, Inc... OMIM:619774
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Exaggerated startle response, Dilated cardiomyopathy, Optic atrophy, Retinal ... OMIM:253800
Cerebrotendinous Xanthomatosis
Optic disc pallor, Resting tremor, Optic neuropathy, Abnormal auditory evoked potentials, Abnorma... ORPHA:909
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Transient neutropenia, Macrotia, Sensorineural hearing impairment, Renal cyst,... OMIM:617107
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Urinary glycosaminoglycan excre... ORPHA:79255
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Joubert Syndrome 2
Renal insufficiency, Retinal dystrophy, Optic disc coloboma, Renal cyst, Chorioretinal coloboma, ... OMIM:608091
Joubert Syndrome With Hepatic Defect
Multicystic kidney dysplasia, Renal insufficiency, Portal hypertension, Tremor, Splenomegaly, Opt... ORPHA:1454
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Posteriorly rotated ears, Protruding ear, Microtia, Low-set ears, D... OMIM:618829
Tuberous Sclerosis 2
Wolff-Parkinson-White syndrome, Absence of renal corticomedullary differentiation, Retinal hamart... OMIM:613254
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Macrotia, Posteriorly rotated ears, Thrombocytopenia OMIM:619980
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Pulmonary... OMIM:208500
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Femoral-Facial Syndrome
Renal agenesis, Abnormal pinna morphology, Abnormal renal collecting system morphology, Pulmonic ... OMIM:134780
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Partial development of the penile shaft, Bradycardia OMIM:608800
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Sensorineural hearing impairment, Nephrolith... ORPHA:18
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Hydronephrosis, Hearing impairment OMIM:620327
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Multicystic kidney dysplasia, Optic nerve hypoplasia, Facial palsy, Optic a... ORPHA:261349
Meckel Syndrome, Type 10
Abnormal pinna morphology, Micropenis, Hypospadias, Renal cyst OMIM:614175
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... OMIM:609136
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Retinal detachment, Optic disc pallor, Hypospadias, Unilateral renal agenes... ORPHA:464311
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic cysts, Asplenia, Hypertrophic cardiomyopathy, Pulmonic stenosis, Aortic valve stenosis, C... OMIM:615415
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Renal cyst, Hypertension, Microtia, Polycystic kidney dysplasia, Low-set ears, ... OMIM:210710
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Renal dysplasia, Ureteral duplication, Retinal dystrophy, Posteriorly rotated ears, Pancreatic cy... OMIM:266920
Joubert Syndrome 21
Splenomegaly, Sensorineural hearing impairment, Optic atrophy, Megalopapilla, Renal cyst, Hyperec... OMIM:615636
Trisomy 10P
Posteriorly rotated ears, Abnormality of the kidney, Abnormal auditory evoked potentials, EEG wit... ORPHA:171929
Hyperekplexia 3
Exaggerated startle response, Syncope OMIM:614618
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ectopic kidney, Abnormal incisura morphology, Conductive hearing impair... OMIM:122470
Developmental And Epileptic Encephalopathy 49
EEG abnormality, Exaggerated startle response, Macrotia, Optic atrophy OMIM:617281
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Thickened helices, Renal cyst, Arrhythmia,... ORPHA:261494
Atelosteogenesis Type I
Multiple renal cysts, Retinal dysplasia, Low-set ears ORPHA:1190
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Enlarged polycystic ovaries, Abnormality of the ureter, Renal cell c... ORPHA:2869
Pearson Syndrome
Reticulocytosis, Renal insufficiency, Pancytopenia, Proteinuria, Cardiac conduction abnormality, ... ORPHA:699
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Ketonuria, Sensorineural hearing impairment, Optic atrophy, ... ORPHA:480864
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality, Urinary incontinence ORPHA:206448
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Axial Osteomalacia
Renal cyst OMIM:109130
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Tuberous Sclerosis 1
Wolff-Parkinson-White syndrome, Renal cyst, Achromatic retinal patches, Renal cell carcinoma, Ren... OMIM:191100
Tay-Sachs Disease
Exaggerated startle response, Tremor, Optic atrophy, Hepatosplenomegaly, Dystonia, Cherry red spo... ORPHA:845
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Pancreatic cysts, Thrombocytopenia, Splenomegaly, Hepatosplenomeg... ORPHA:464329
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Low-set ears OMIM:617301
Developmental Delay With Or Without Dysmorphic Facies And Autism
Posteriorly rotated ears, Optic disc coloboma, Renal hypoplasia, Renal cyst, Microphallus, Low-se... OMIM:618454
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalciuria, Renal cyst, Multifocal epileptiform discharges, Nephrocalcinosis, EEG with genera... ORPHA:369837
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... ORPHA:521426
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Septo-optic dysplasia, Microtia, Optic atrophy ORPHA:3301
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Hearing impairment OMIM:620114
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Posteriorly rotated ears, Low-set ears OMIM:618598
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Posteriorly rotated ears, Renal cyst, ... OMIM:257300
Asparagine Synthetase Deficiency
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr... OMIM:615574
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Extramedullary hematopoiesis, Renal cyst ORPHA:79303
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Optic disc pallor, Hypospadias, Unilateral renal agenesis, Macrotia, Renal ... ORPHA:464306
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Macr... ORPHA:500095
Joubert Syndrome 5
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Retin... OMIM:610188
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Sensorineural hearing impairment, Choreoathetosis, Dystonia, Conduc... ORPHA:261197
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Low-set ears, Cystic renal dysplasia, En... OMIM:608022
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, S... OMIM:267010
Trisomy 20P
Low-set, posteriorly rotated ears, Hypospadias, Abnormality of the kidney, Abnormality of the ure... ORPHA:261318
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Posteriorly rotated ears, EEG with burst suppression, Renal cyst, Low-set ears, Mitral stenosis, ... OMIM:617260
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis, Low-set ears, Protruding ear ORPHA:73246
Vacterl/Vater Association
Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias... ORPHA:887
Pagod Syndrome
Multicystic kidney dysplasia, Sudden cardiac death, Renal hypoplasia/aplasia, Abnormality of the ... ORPHA:991
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Renal cyst OMIM:602579
Alveolar Echinococcosis
Eosinophilia, Portal hypertension, Pancreatic cysts, Renal cyst, Anemia, Abnormal spleen morpholo... ORPHA:284
Cystic Echinococcosis
Eosinophilia, Renal cyst, Ovarian cyst, Membranous nephropathy, Splenic cyst, Hepatic cysts ORPHA:400
Branchio-Oculo-Facial Syndrome
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Renal agenesis, Abnormal pinna m... ORPHA:1297
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... ORPHA:93111
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Low-set ears, Mixed hearing impairment, Cupped ear, Renal cyst OMIM:615560
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureterocele, Hearing... ORPHA:261265
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Elevated urinary dopamine level, Anemia, Syncope, Orthosta... ORPHA:230
Ulbright-Hodes Syndrome
Abnormal penis morphology, Abnormal pinna morphology, Renal hypoplasia, Low-set ears, Polycystic ... ORPHA:3404
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Posteriorly rotated ears, Distal urethral duplication, Ectopic kidn... OMIM:146510
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts, Congenital hypertrophy of retinal pigment epithelium ORPHA:220460
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Trisomy 1Q
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis, Low-set ears ORPHA:261344
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Shortened QT interval, Nephrolithiasis, Renal cyst, Hyperca... ORPHA:99880
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Telangiectasia of the skin, Renal hypoplasia/aplasia, Horseshoe kid... ORPHA:2092
Mosaic Trisomy 1
Abnormal pinna morphology, Renal cortical cysts, Renal cyst, Low-set ears, Micropenis, Penile hyp... ORPHA:1692
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Posteriorly rotated ears, Exaggerated startle response, Optic atrophy, Low-set ears OMIM:617527
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Multicystic kidney dysplasia, Telangiectasia of the skin, Displacement of the... ORPHA:1556
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Shortened QT interval, Nephrolithiasis, Renal cyst, Hyperca... ORPHA:143
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Hypospadias, Posteriorly rotated ears, Abnormal pinna morphology, Long penis, H... OMIM:268300
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias, Protruding ear ORPHA:2115
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst, Hearing impairment ORPHA:488618
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Retinal hamartoma, Optic atr... ORPHA:538
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Meckel Syndrome, Type 6
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney OMIM:612284
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Asplenia, Horseshoe kidney, Multiple renal cysts, Low-set e... ORPHA:99776
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
External ear malformation, Exaggerated startle response, Dystonia ORPHA:438216
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity, Splenomegaly, Renal cyst, Low-set ears, Hearing impairment OMIM:261515
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation, Mixed hearing impairment, Renal cyst, Sensorineural hearing ... OMIM:272460
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Campomelia, Cumming Type
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts ORPHA:1318
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Posteriorly rotated ears, Abnormal pinna morphology, Sensorineural hearing impairmen... OMIM:616975
2Q37 Microdeletion Syndrome
Conductive hearing impairment, Multicystic kidney dysplasia, Nephroblastoma ORPHA:1001
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Glomerulopathy, Renal insufficiency, Proteinuria, Chorioretina... ORPHA:534
Alagille Syndrome 1
Duplicated collecting system, Multiple small medullary renal cysts, Chorioretinal atrophy, Renal ... OMIM:118450
1P36 Deletion Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, A... ORPHA:1606
Structural Heart Defects And Renal Anomalies Syndrome
Low-set ears, Renal insufficiency, Systolic heart murmur, Renal cyst OMIM:617478
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Optic nerve dysplasia, Retinal dysplasia, Micropenis, Hydronephrosis OMIM:615287
Meckel Syndrome, Type 4
Renal cyst OMIM:611134
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Low-set ears ORPHA:2075
Meckel Syndrome
Low-set, posteriorly rotated ears, Ureteral duplication, Multicystic kidney dysplasia, Accessory ... ORPHA:564
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... OMIM:270400
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Low-set ears, Hearing impairment ORPHA:85201
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia... ORPHA:2473
Steinert Myotonic Dystrophy
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... ORPHA:273
Penile Agenesis
Urethral atresia, male, Hydroureter, Posteriorly rotated ears, Fetal pyelectasis, Bilateral renal... ORPHA:49
Acrocephalopolydactylous Dysplasia
Abnormal pinna morphology, Low-set ears, Polysplenia, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Mend Syndrome
Abnormal auditory evoked potentials, Aortic valve stenosis, Low-set ears ORPHA:401973
Fryns Syndrome
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacol... ORPHA:2059
Schinzel-Giedion Syndrome
Abnormality of the stapes, Myeloid leukemia, Hypospadias, Aganglionic megacolon, Abnormality of t... ORPHA:798
Beckwith-Wiedemann Syndrome
Ureteral duplication, Otosclerosis, Splenomegaly, Nephropathy, Nephrolithiasis, Hypercalciuria, A... ORPHA:116
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, H... ORPHA:373
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Tremor, Hyperte... ORPHA:2750
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Proteus Syndrome
Abnormality of retinal pigmentation, Thymus hyperplasia, Sudden cardiac death, Pulmonary embolism... ORPHA:744
Fryns Syndrome
Ureteral duplication, Renal agenesis, Hypospadias, Aganglionic megacolon, Renal cyst, Low-set ear... OMIM:229850
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Macrotia, Renal hypoplasia, Renal cyst OMIM:616300
Smith-Lemli-Opitz Syndrome
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias... ORPHA:818
Williams Syndrome
Hypoplasia of penis, Myocardial infarction, Tremor, Abnormal tubulointerstitial morphology, Protr... ORPHA:904
Short-Rib Thoracic Dysplasia 12
Abnormal pinna morphology, Posteriorly rotated ears, Splenomegaly, Renal hypoplasia, Low-set ears... OMIM:269860
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Abnormality of the spleen... ORPHA:2538
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Acute lymp... ORPHA:1052
Cranioectodermal Dysplasia 2
Renal insufficiency, Splenomegaly, Renal cyst, Hypertension, Low-set ears, Polysplenia, Simple ear OMIM:613610
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Nephrolithiasis, Pulmonic stenosis, Dystonia, Ve... ORPHA:438213
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Pericarditis, Abnormal chorioretinal morphol... ORPHA:3310
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... ORPHA:857
Townes-Brocks Syndrome 1
Overfolding of the superior helices, Multicystic kidney dysplasia, Renal insufficiency, Hypospadi... OMIM:107480
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Low-set ears, Hypospadias, Optic nerve hypoplasia, Renal cyst ORPHA:495875
Branchiooculofacial Syndrome
Renal agenesis, Hypospadias, Facial palsy, Posteriorly rotated ears, Sensorineural hearing impair... OMIM:113620
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Exaggerated startle response, Small earlobe, Hypospadias, Urinary incontinenc... OMIM:619522
Jacobsen Syndrome
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the earlob... ORPHA:2308
Cerebrocostomandibular Syndrome
Posteriorly rotated ears, Ectopic kidney, Horseshoe kidney, Renal cyst, Low-set ears, Conductive ... OMIM:117650
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia, Posteriorly rotated ears, Facial palsy, Microtia, Low-set ears, Con... OMIM:300373
Hajdu-Cheney Syndrome
Hypospadias, Splenomegaly, Multiple renal cysts, Aortic valve stenosis, Low-set ears, Mitral sten... ORPHA:955
Distal Deletion 15Q
Multicystic kidney dysplasia, Mitral stenosis, Hypospadias, Abnormal localization of kidney, Low-... ORPHA:1596
Robinow Syndrome
Multicystic kidney dysplasia, Mixed hearing impairment, Posteriorly rotated ears, Pulmonic stenos... ORPHA:97360
Autosomal Recessive Robinow Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephro... ORPHA:1507
Peters Plus Syndrome
Low-set, posteriorly rotated ears, Ureteral duplication, Multicystic kidney dysplasia, Hypospadia... ORPHA:709
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Splenomegaly, Renal cyst, Anterior creases of earlobe, Duplication of renal pelvis, ... OMIM:312870
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, EEG with generalized slow activity OMIM:618367
Cerebrocostomandibular Syndrome
Conductive hearing impairment, Multicystic kidney dysplasia, Atresia of the external auditory canal ORPHA:1393
Mowat-Wilson Syndrome
Urinary incontinence, Uplifted earlobe, Asplenia, Conductive hearing impairment, Vesicoureteral r... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Aganglionic megacolon, Posterior... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Uplifted earlobe, Asplenia, Vesicoureteral reflux, Webbed penis, Micropenis... ORPHA:261552
Fraser Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias... ORPHA:2052
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Aganglionic... OMIM:308205
Cornelia De Lange Syndrome
Low-set, posteriorly rotated ears, Renal insufficiency, Hypoplasia of penis, Multicystic kidney d... ORPHA:199
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Abnormality of pe... OMIM:601992
C Syndrome
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horses... ORPHA:1308
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis ORPHA:93271
Pmm2-Cdg
Pericarditis, Proteinuria, Angina pectoris, Abnormal pinna morphology, Macrotia, Intracranial hem... ORPHA:79318
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Unilateral external ear deformity, Ectopic kidney, ... OMIM:164210
Genitopatellar Syndrome
Micropenis, Multicystic kidney dysplasia, Hydronephrosis, Hearing impairment OMIM:606170
Pallister-Killian Syndrome
Hypospadias, Posteriorly rotated ears, Renal cyst, Aortic valve stenosis, Low-set ears, Hypertrop... OMIM:601803

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Zdhhc5

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Zdhhc5.

No publications found that use IMPC mice or data for Zdhhc5.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Zdhhc5tm39351(L1L2_st2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Zdhhc5tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Zdhhc5tm1e(EUCOMM)Hmgu Targeted, non-conditional allele Mice, ES Cells
Zdhhc5tm1e.1(EUCOMM)Hmgu Promoter excision from Targeted, non-conditional allele Mice

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