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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 2.30×10-05
increased mean platelet volume Zdhhc5tm1e.1(EUCOMM)Hmgu HOM Early adult 2.77×10-15
polycystic kidney Zdhhc5tm1e.1(EUCOMM)Hmgu HOM Early adult 0.00
decreased startle reflex Zdhhc5tm1e.1(EUCOMM)Hmgu HOM Early adult 2.61×10-08
decreased total retina thickness Zdhhc5tm1e.1(EUCOMM)Hmgu HOM Early adult 5.16×10-06

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Viewing: all phenotypes
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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
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease OMIM:617610
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia, Retinal degeneration OMIM:614844
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... OMIM:619271
Macrothrombocytopenia and progressive sensorineural deafness
Abnormality of the urinary system, Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Nephritis, Spontaneous, recurrent ep... ORPHA:182050
Sebastian syndrome
Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Giant platelets, Thrombocytop... OMIM:605249
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets OMIM:137560
Bardet-Biedl Syndrome 10
Retinal dystrophy, Renal cyst, Rod-cone dystrophy, Renal insufficiency, Abnormality of the kidney OMIM:615987
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Myocardial infarction, Giant ... OMIM:155100
Fechtner syndrome
Neutrophil inclusion bodies, Hematuria, Nephritis, Leukocyte inclusion bodies, Stage 5 chronic ki... OMIM:153640
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Bardet-Biedl Syndrome 6
Hypospadias, Retinal dystrophy, Renal cyst, Rod-cone dystrophy OMIM:605231
Nephronophthisis 16
Hypertrophic cardiomyopathy, Nephronophthisis, Pulmonic stenosis, Polycystic kidney dysplasia, Ao... OMIM:615382
Hanac Syndrome
Hematuria, Retinal vascular tortuosity, Renal insufficiency, Multiple renal cysts ORPHA:73229
Bardet-Biedl Syndrome 16
Renal agenesis, Retinal degeneration, Renal dysplasia, Renal cyst, Rod-cone dystrophy, Renal insu... OMIM:615993
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Bernard-Soulier Syndrome
Epistaxis, Impaired ristocetin-induced platelet aggregation, Gastrointestinal hemorrhage, Giant p... OMIM:231200
Meckel Syndrome 13
Polycystic kidney dysplasia, Retinopathy OMIM:617562
Nephronophthisis 20
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Brugada Syndrome 2
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Slc35A1-Cdg
Neutropenia, Pulmonary hemorrhage, Abnormal platelet granules, Giant platelets, Thrombocytopenia ORPHA:238459
Histiocytoid Cardiomyopathy
Optic atrophy, Atrial fibrillation, Ventricular tachycardia, Atrioventricular block, Supraventric... ORPHA:137675
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension, Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral regurgitation, Hepatic cysts, Polycystic kidney dysplasia, Renal insufficiency OMIM:173900
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Congestive heart failure, Shortened PR interval, Hypotension OMIM:261740
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hypertension, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomeg... OMIM:263200
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... OMIM:617805
Atrial Fibrillation, Familial, 7
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval OMIM:612240
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Polycystic Kidney, Cataract, And Congenital Blindness
Retinal dystrophy, Polycystic kidney dysplasia, Hypoplasia of the retina OMIM:263100
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume OMIM:300048
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypertension, Hepatic cysts, Stage 5 chronic kidney disease, Recurrent urinary tract infections, ... OMIM:613095
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux OMIM:618270
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Urinary retention, Palpitations, Decreased urinary potassium, Tremor, Shor... ORPHA:79102
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Increased mean platelet volume, Stomatocytosis, Epistaxis, Splenomegaly, Hemolytic anemia OMIM:153670
Bernard-Soulier Syndrome
Macroscopic hematuria, Decreased platelet glycoprotein Ib-IX-V, Hematemesis, Spontaneous, recurre... ORPHA:274
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... OMIM:143400
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal arteriolar tortuosity, Hematuria, Renal cyst, Raynaud phenomenon, Nephropathy, Renal insu... OMIM:611773
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Nephrolithiasis, Polycystic kidney dysplasia, Papillary renal cell carcin... OMIM:145001
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Macrothrombocytopenia, Anemia OMIM:616176
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney, Rod-cone dystrophy, Retinal degeneration OMIM:615982
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Shortened PR interval, Splenomegaly OMIM:232300
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Low-output congestive heart failure, Oligosacchariduria, Shortened P... ORPHA:308552
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Long Qt Syndrome 10
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... OMIM:611819
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Incessant Infant Ventricular Tachycardia
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... ORPHA:45453
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Morning glory anomaly, Retinal coloboma, M... OMIM:120330
Campomelia, Cumming Type
Polycystic kidney dysplasia, Polysplenia, Pancreatic cysts OMIM:211890
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia, Epistaxis OMIM:273900
Pelger-Huet Anomaly
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... OMIM:169400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Giant platelets, Chronic hemolytic anemi... OMIM:210250
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... ORPHA:45452
Takenouchi-Kosaki Syndrome
Hypospadias, Optic atrophy, Hydronephrosis, Increased mean platelet volume, Pulmonic stenosis, Un... OMIM:616737
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Vasculitis OMIM:617718
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy, Carnosinuria OMIM:309930
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration, Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus s... ORPHA:542306
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Abnormal localization of kidney, Long penis ORPHA:1988
Indomethacin Embryofetopathy
Cardiomyopathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Nephropathy, Rena... ORPHA:1909
Renal Coloboma Syndrome
Renal hypoplasia, Retinal coloboma, Renal dysplasia, Optic disc coloboma, Multicystic kidney dysp... ORPHA:1475
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Joubert Syndrome 20
Renal cyst, Retinopathy, Abnormal retinal morphology OMIM:614970
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Long Qt Syndrome 1
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... OMIM:192500
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Oligosacchariduria, Vasculitis, Transient ischemic attack, Shortened... ORPHA:365
Cystic Hamartoma Of Lung And Kidney
Hypertension, Multicystic kidney dysplasia ORPHA:2111
Joubert Syndrome 16
Nephronophthisis, Renal cyst, Retinal dystrophy OMIM:614465
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Neutropenia, Anemia, Renal cyst, Nephropathy, Chronic kidney ... OMIM:617056
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Congenital Disorder Of Glycosylation, Type Il
Hepatosplenomegaly, Polycystic kidney dysplasia OMIM:608776
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic cysts, Asplenia, Renal dysplasia, Hepatic cysts, Enlarged kidney, Renal insufficiency,... OMIM:208540
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Cardiomyopa... ORPHA:157
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Ureteral duplication, Hydronephrosis, Antenatal intracerebral hemorrhage,... OMIM:608836
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hypoplasia of the thymus, Polycystic kidney dysplasia, Pigmentary retinopathy, Aminoaciduria, Opt... OMIM:214110
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Cardiomyopa... ORPHA:228308
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Nathalie Syndrome
Abnormal EKG OMIM:255990
Syndromic Diarrhea
Thrombocytosis, Renal hypoplasia, Increased mean platelet volume, Hypoplasia of the thymus, Aorti... ORPHA:84064
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Renal cortical cysts, Generalized aminoaciduria, Proximal tubulopathy, Glu... OMIM:231680
Thrombocytopenia 1
Decreased mean platelet volume, Joint hemorrhage, Epistaxis, Intermittent thrombocytopenia, Conge... OMIM:313900
Arima Syndrome
Renal tubular atrophy, Occipital meningocele, Chorioretinal coloboma, Nephronophthisis, Retinal d... OMIM:243910
Trichohepatoenteric Syndrome 1
Hypospadias, Thrombocytosis, Increased mean platelet volume, Aortic regurgitation, Pulmonic steno... OMIM:222470
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Nephronophthisis 1
Renal tubular atrophy, Hypertension, Nephronophthisis, Tubulointerstitial fibrosis, Anemia, Renal... OMIM:256100
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... OMIM:603860
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia, Rod-cone dystrophy ORPHA:140976
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Lacticaciduria, Glutaric aciduria, Cardiomyopathy, Polycystic kidney dyspl... ORPHA:26791
Long Qt Syndrome 3
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:603830
Long Qt Syndrome 2
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613688
Long Qt Syndrome 6
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613693
Long Qt Syndrome 5
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613695
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Atrial Septal Defect, Ostium Primum Type
Syncope, Abnormal P wave, Atrial fibrillation, Mitral regurgitation, Systolic heart murmur, Palpi... ORPHA:99106
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Branchiootorenal Syndrome 1
Renal agenesis, Renal malrotation, Renal dysplasia, Polycystic kidney dysplasia, Abnormal renal c... OMIM:113650
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy ORPHA:3033
Trisomy 17P
Urethral valve, Hydronephrosis, Hypoplasia of penis, Urethral stenosis, Polycystic kidney dysplas... ORPHA:261290
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Hypertension, Abnormal nephron morpholog... ORPHA:93108
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Decreased platelet glycoprotein Ib, Aortic regurgitation, Pulmonary hemorrhage, Prot... OMIM:603585
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst OMIM:614091
Lathosterolosis
Horseshoe kidney, Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Myelomenin... OMIM:607330
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Bardet-Biedl Syndrome 17
Macular atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Renal cyst, Stage... OMIM:615994
Trisomy X
Tremor, Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Renal dysplasia, Nephronophthisis, Anemia, Renal cyst, Stage 5 chronic kidney disease, Rod-cone d... OMIM:266920
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... OMIM:613243
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... OMIM:615441
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... ORPHA:85451
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hydronephrosis, Renal dysplasia, Rod-cone dystrophy, Unilateral renal agenesis, Polycystic kidney... ORPHA:2237
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Distal Tetrasomy 15Q
Horseshoe kidney, Hydronephrosis, Polycystic kidney dysplasia, Dilatation of the renal pelvis, Ne... ORPHA:314588
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Optic atrophy, Hydronephrosis, Increased mean platelet volume, Unilateral renal agen... ORPHA:487796
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Joubert Syndrome 39
Retinal dystrophy, Polycystic kidney dysplasia OMIM:619562
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:606966
Short Qt Syndrome 1
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... OMIM:609620
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Retinal dysplasia, Renal dysplasia, Renal cyst, Micropenis, Optic nerve dysplasia OMIM:615287
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Splenic cyst, Renal cyst, Splenomegaly, Polycystic kidney dysplasia, Portal hyp... OMIM:610199
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Alagille Syndrome 2
Hypertension, Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Pulmonic stenosis,... OMIM:610205
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Cardiac arrest, Congestive... OMIM:608751
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Multiple renal cysts ORPHA:2924
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Hypertension, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortic... OMIM:174000
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Ectopic kidney, Abnormality of the kidney OMIM:613730
Autosomal Recessive Polycystic Kidney Disease
Hypertension, Pancreatic cysts, Stage 5 chronic kidney disease, Splenomegaly, Recurrent urinary t... ORPHA:731
Nephronophthisis 11
Renal tubular atrophy, Retinal degeneration, Nephronophthisis, Renal corticomedullary cysts, Anem... OMIM:613550
Autosomal Dominant Polycystic Kidney Disease
Hypertension, Pancreatic cysts, Decreased glomerular filtration rate, Hepatic cysts, Renal cyst, ... ORPHA:730
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Tuberous Sclerosis Complex
Hypertension, Renal cell carcinoma, Hepatic cysts, Renal cyst, Stage 5 chronic kidney disease, Po... ORPHA:805
Caroli Syndrome
Leukocytosis, Leukopenia, Hematemesis, Melena, Hypersplenism, Polycystic kidney dysplasia, Thromb... ORPHA:480520
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Short Rib-Polydactyly Syndrome
Hypospadias, Nephronophthisis, Hepatic cysts, Urogenital sinus anomaly, Polycystic kidney dysplas... ORPHA:1505
Phelan-Mcdermid Syndrome
Polycystic kidney dysplasia, Abnormality of the kidney, Vesicoureteral reflux OMIM:606232
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... OMIM:600858
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease OMIM:613390
Nephronophthisis-Like Nephropathy 1
Renal tubular atrophy, Hypertension, Kinetic tremor, Pancreatic cysts, Nephronophthisis, Renal co... OMIM:613159
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Nephrotic synd... ORPHA:330001
Joubert Syndrome 7
Nephronophthisis, Renal cyst, Retinal dystrophy OMIM:611560
Orofaciodigital Syndrome I
Hypertension, Pancreatic cysts, Myelomeningocele, Hepatic cysts, Polycystic kidney dysplasia, Pro... OMIM:311200
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation OMIM:108900
Joubert Syndrome 35
Hydronephrosis, Rod-cone dystrophy, Recurrent urinary tract infections, Multicystic kidney dyspla... OMIM:618161
Brugada Syndrome 5
Ventricular fibrillation, ST segment elevation, Bundle branch block OMIM:612838
Caroli Disease
Leukocytosis, Polycystic kidney dysplasia, Portal hypertension, Splenomegaly ORPHA:53035
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Cardiogenic Shock
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated jugular venous pres... ORPHA:97292
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Renal cyst OMIM:228940
Coach Syndrome 1
Hypertension, Optic disc pallor, Nephronophthisis, Multiple small medullary renal cysts, Renal cy... OMIM:216360
22Q11.2 Deletion Syndrome
Hypospadias, Meningocele, Renal hypoplasia, Abnormality of thrombocytes, Retinal arteriolar tortu... ORPHA:567
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Von Hippel-Lindau Disease
Myocarditis, Hypertension, Retinal capillary hemangioma, Pancreatic cysts, Polycythemia, Palpitat... ORPHA:892
Gitelman Syndrome
Prominent U wave, Syncope, Tubulointerstitial nephritis, ST segment depression, Raynaud phenomeno... ORPHA:358
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Retinal dystrophy, Micropenis, Polycystic kidney dysplasia, Tricuspid regurgitation OMIM:263520
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Hypertension, Myocarditis, Abnormal T-wave, Re... ORPHA:563
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal dysplasia, Renal cyst, Renal hypoplasia, Ureteral agenesis OMIM:236500
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Cystic renal dysplasia, Asplenia, Pulmonic stenosis, Aortic valve st... OMIM:615415
Tropical Endomyocardial Fibrosis
Splenomegaly, Abnormal EKG, Eosinophilia, Abnormal P wave, Reduced ejection fraction, Mitral regu... ORPHA:75565
Meckel Syndrome, Type 10
Hypospadias, Micropenis, Renal cyst OMIM:614175
15q26 overgrowth syndrome
Horseshoe kidney, Hydronephrosis, Renal agenesis, Duplication of renal pelvis, Polycystic kidney ... DECIPHER:81
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Cardiomyopathy, Renal insu... OMIM:614922
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Renal cyst OMIM:615583
3-Methylglutaconic Aciduria Type 7
Neutropenia, Opisthotonus, Nephrocalcinosis, Renal cyst, Cardiomyopathy, 3-Methylglutaconic acidu... ORPHA:445038
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Exaggerated startle response OMIM:609541
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Al Amyloidosis
Hypertrophic cardiomyopathy, Abnormal P wave, Nephrotic syndrome, Abnormality of the kidney, Incr... ORPHA:85443
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydronephrosis, Hydroureter, Polycystic kidney dysplasia OMIM:236700
Joubert Syndrome 14
Hypertension, Renal cyst, Morning glory anomaly OMIM:614424
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Birt-Hogg-Dube Syndrome
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:604387
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Multiple renal cysts, Vesicoureteral reflux ORPHA:1166
Stiff-Person Syndrome
Hypertension, Opisthotonus, Anemia, Exaggerated startle response, Tachycardia OMIM:184850
Coronary Arterial Fistula
Syncope, Systolic heart murmur, Continuous heart murmur, Palpitations, Elevated jugular venous pr... ORPHA:2041
Distal Monosomy 12Q
Hydronephrosis, Micropenis, Polycystic kidney dysplasia, Vesicoureteral reflux, Ectopic kidney ORPHA:96149
Meckel Syndrome, Type 1
Abnormality of the ureter, Renal agenesis, Asplenia, Splenomegaly, Accessory spleen, Polycystic k... OMIM:249000
Acrorenal-Mandibular Syndrome
Polycystic kidney dysplasia, Abnormality of the ureter, Renal agenesis, Aplasia of the bladder OMIM:200980
Prune Belly Syndrome
Abnormality of the ureter, Congenital posterior urethral valve, Urogenital sinus anomaly, Recurre... ORPHA:2970
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Multicystic kidney dysplasia, Renal cyst, Chorioretinal coloboma ORPHA:2031
Simpson-Golabi-Behmel Syndrome, Type 2
Multicystic kidney dysplasia, Micropenis OMIM:300209
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Retinal degeneration, Renal cyst, Rod-cone dystrophy, Heart murmur ORPHA:166035
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Splenomegaly, Hepatosplenomegaly, Renal cortical microcysts, Pigmentary retinopathy, ... OMIM:614866
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... ORPHA:37553
Diaphanospondylodysostosis
Multiple renal cysts, Myelomeningocele ORPHA:66637
Bardet-Biedl Syndrome
Hypertension, Nephrotic syndrome, Multicystic kidney dysplasia, Pigmentary retinopathy, Hypoplasi... ORPHA:110
Floating-Harbor Syndrome
Hypospadias, Hydronephrosis, Renal agenesis, Nephrocalcinosis, Congenital posterior urethral valv... ORPHA:2044
Roberts Syndrome
Thrombocytopenia, Polycystic kidney dysplasia, Long penis ORPHA:3103
Short Qt Syndrome 3
Palpitations, Shortened QT interval, Tachycardia OMIM:609622
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Hydronephrosis, Abnormality of the ureter, Abnormality of the urinary ... ORPHA:1834
Axial Osteomalacia
Renal cyst OMIM:109130
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Systolic heart murmur, Atriovent... ORPHA:1329
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Nephrotic syndrome, Proximal tubulopathy, Renal cyst, Cardiomyopathy, Rod-cone dy... OMIM:212065
Congenital Sialidosis Type 2
Telangiectasia, Optic atrophy, Hypoplasia of the fovea, Cherry red spot of the macula, Hepatosple... ORPHA:93400
Trisomy 13
Optic atrophy, Hydronephrosis, Abnormality of the ureter, Displacement of the urethral meatus, Ab... ORPHA:3378
Renal Cysts And Diabetes Syndrome
Hypospadias, Renal hypoplasia, Renal cyst, Nephrolithiasis, Glycosuria, Stage 5 chronic kidney di... OMIM:137920
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, Atrial fibrillation, Mitral regurgitatio... ORPHA:99103
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Restrictive cardiomyopathy, Renal cyst, Ureteral stenosis, Hypercalciuria OMIM:615398
Von Hippel-Lindau Syndrome
Hypertension, Retinal capillary hemangioma, Pancreatic cysts, Polycythemia, Renal cell carcinoma,... OMIM:193300
Bor Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junction ob... ORPHA:107
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EKG, Arrhythmia OMIM:310200
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... ORPHA:255249
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Retinal degeneration, Hypoautofluorescent retinal lesion, Renal cyst, Rod-cone ... OMIM:250410
Femoral-Facial Syndrome
Renal agenesis, Pulmonic stenosis, Micropenis, Polycystic kidney dysplasia, Abnormal renal collec... OMIM:134780
Peutz-Jeghers Syndrome
Abnormality of the ureter, Renal cell carcinoma, Anemia, Gastrointestinal hemorrhage, Multiple re... ORPHA:2869
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Pancreatic cysts, Subconjunctival hemorrhage, Epistaxis, Anemia, Abnormal sp... ORPHA:464329
Mody
Renal cyst, Glycosuria, Elevated hemoglobin A1c, Nephropathy, Retinopathy, Abnormality of the kidney ORPHA:552
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Distal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Decreased glomerular fi... ORPHA:18
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Hydronephrosis, Urogenital sinus anomaly, Displacement of the urethral meatus, Multicystic kidney... ORPHA:2973
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Peroxisome Biogenesis Disorder 1B
Optic atrophy, Renal cyst, Rod-cone dystrophy, Hyperoxaluria OMIM:601539
Joubert Syndrome 1
Optic disc pallor, Chorioretinal coloboma, Occipital myelomeningocele, Retinal dysplasia, Retinal... OMIM:213300
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Tay-Sachs Disease
Exaggerated startle response, Cherry red spot of the macula OMIM:272800
Meckel Syndrome, Type 7
Pancreatic cysts, Multiple glomerular cysts, Stage 5 chronic kidney disease, Multicystic kidney d... OMIM:267010
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Friedreich Ataxia
Hypertrophic cardiomyopathy, Optic atrophy, Abnormal echocardiogram, Congestive heart failure, Ab... OMIM:229300
Congenital Aortic Valve Stenosis
Abnormal T-wave, Reduced ejection fraction, Angina pectoris, Increased QRS voltage, Abnormal puls... ORPHA:3093
Joubert Syndrome 2
Chorioretinal coloboma, Abnormal renal physiology, Nephronophthisis, Retinal dystrophy, Renal cys... OMIM:608091
Joubert Syndrome With Hepatic Defect
Chorioretinal coloboma, Optic disc coloboma, Splenomegaly, Tremor, Multicystic kidney dysplasia, ... ORPHA:1454
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Retinal degeneration, Pancreatic cysts, Nephritis, Renal cyst, Chronic k... OMIM:208500
Meckel Syndrome, Type 2
Meningocele, Renal cyst OMIM:603194
Sandhoff Disease
Cherry red spot of the macula, Orthostatic hypotension, Exaggerated startle response, Hepatosplen... OMIM:268800
Kleefstra Syndrome
Hypospadias, Hydronephrosis, Renal cyst, Micropenis, Vesicoureteral reflux, Hypoplasia of penis, ... ORPHA:261494
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Ureteral obstruction, Hydronephrosis, Urinary retention, Aplasia/Hypoplas... ORPHA:79404
Congenital Bile Acid Synthesis Defect Type 2
Renal cyst, Extramedullary hematopoiesis, Dark urine ORPHA:79303
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Cherry red spot of the macula ORPHA:309246
Dextrocardia
Abnormality of the spleen, Abnormality of the ureter, Abnormal renal morphology, Abnormal EKG, T-... ORPHA:1666
Alveolar Echinococcosis
Pancreatic cysts, Budd-Chiari syndrome, Hepatic cysts, Anemia, Renal cyst, Abnormality of bladder... ORPHA:284
Dopamine Beta-Hydroxylase Deficiency
Syncope, Orthostatic hypotension, Orthostatic syncope, Anemia, Elevated urinary dopamine, Abnorma... ORPHA:230
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Hydronephrosis, Optic disc pallor, Pelvic kidney, Aortic regurgitation, Renal cyst, ... ORPHA:464311
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Optic atrophy, Retinal dysplasia, Exaggerated startle response, Pulmonic ... OMIM:253800
Zellweger Syndrome
Hypospadias, Optic atrophy, Hydronephrosis, Multicystic kidney dysplasia, Abnormal chorioretinal ... ORPHA:912
Cystic Echinococcosis
Splenic cyst, Membranous nephropathy, Hepatic cysts, Renal cyst, Eosinophilia, Ovarian cyst ORPHA:400
Tuberous Sclerosis 1
Achromatic retinal patches, Renal cell carcinoma, Renal cyst, Renal angiomyolipoma, Wolff-Parkins... OMIM:191100
Pearson Syndrome
Neutropenia, Cardiac conduction abnormality, Lacticaciduria, Anemia, Cardiomyopathy, Renal cyst, ... ORPHA:699
Tuberous Sclerosis 2
Achromatic retinal patches, Renal cell carcinoma, Renal cyst, Renal angiomyolipoma, Wolff-Parkins... OMIM:613254
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Hydronephrosis, Renal cyst, Vesicoureteral reflux, Microphallus OMIM:618454
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Intracranial hemorrhage, Abnormal T-wave, Increased urinary potassium, Palpitations... ORPHA:231625
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Renal hamartoma, Renal insu... ORPHA:99880
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Cornelia De Lange Syndrome 1
Hypospadias, Renal hypoplasia, Optic atrophy, Ectopic kidney, Renal cyst, Optic disc coloboma, Re... OMIM:122470
Neuromuscular Oculoauditory Syndrome
Multiple renal cysts, Retinal pigment epithelial mottling, Reduced renal corticomedullary differe... OMIM:618733
Vacterl/Vater Association
Hypospadias, Hydronephrosis, Renal agenesis, Multicystic kidney dysplasia, Abnormality of the ure... ORPHA:887
Parathyroid Carcinoma
Shortened QT interval, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Renal hamartoma, Renal insu... ORPHA:143
Chromosome 17Q12 Deletion Syndrome
Renal hypoplasia, Hydronephrosis, Urethral stenosis, Renal cyst, Stage 5 chronic kidney disease, ... OMIM:614527
Joubert Syndrome 21
Hyperechogenic kidneys, Renal cyst, Retinopathy OMIM:615636
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Cystic renal dysplasia, Optic atrophy, Renal agenesis, Increased urine alpha-ketoglutarate concen... OMIM:220500
Diaphanospondylodysostosis
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney OMIM:608022
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Exaggerated startle response, Cardiomyopathy, Hepatosplenomegaly, ... ORPHA:79255
Pagod Syndrome
Meningocele, Abnormality of the spleen, Optic atrophy, Renal hypoplasia/aplasia, Multicystic kidn... ORPHA:991
Meckel Syndrome, Type 4
Meningocele, Renal cyst OMIM:611134
Ulbright-Hodes Syndrome
Renal hypoplasia, Polycystic kidney dysplasia, Abnormal penis morphology ORPHA:3404
2P15P16.1 Microdeletion Syndrome
Optic atrophy, Hydronephrosis, Mitral regurgitation, Aortic regurgitation, Optic nerve hypoplasia... ORPHA:261349
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Campomelia, Cumming Type
Multiple renal cysts, Multicystic kidney dysplasia, Pancreatic cysts ORPHA:1318
Roberts-Sc Phocomelia Syndrome
Hypospadias, Horseshoe kidney, Long penis, Accessory spleen, Polycystic kidney dysplasia OMIM:268300
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Horseshoe kidney, Renal Fanconi syndrome, Renal agenesis, Renal cell carcinoma, Mult... ORPHA:93111
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Hydronephrosis, Optic disc pallor, Pelvic kidney, Aortic regurgitation, Renal cyst, ... ORPHA:464306
Joubert Syndrome 5
Renal cortical cysts, Retinal coloboma, Nephronophthisis, Stage 5 chronic kidney disease, Rod-con... OMIM:610188
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Optic atrophy, Prolonged QT interval, Abnormal EKG, Arrhythmia, Ketonuria ORPHA:480864
Meckel Syndrome, Type 6
Renal cyst OMIM:612284
Trisomy 20P
Hypospadias, Hydronephrosis, Abnormality of the ureter, Abnormal localization of kidney, Multiple... ORPHA:261318
Mosaic Trisomy 1
Renal cortical cysts, Micropenis, Renal cyst, Penile hypospadias ORPHA:1692
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Mitral stenosis, Renal cyst OMIM:617260
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Renal dysplasia, Restrictive cardiomyopathy,... ORPHA:369837
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Pallister-Hall Syndrome
Renal hypoplasia, Hydronephrosis, Renal dysplasia, Renal cyst, Micropenis, Distal urethral duplic... OMIM:146510
Atelosteogenesis Type I
Multiple renal cysts, Retinal dysplasia ORPHA:1190
Harrod Syndrome
Hypospadias, Multicystic kidney dysplasia ORPHA:2115
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Microgastria-Limb Reduction Defects Association
Cystic renal dysplasia, Horseshoe kidney, Asplenia, Pelvic kidney, Splenogonadal fusion, Unilater... OMIM:156810
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Optic atrophy, Septo-optic dysplasia ORPHA:3301
Marden-Walker Syndrome
Hypospadias, Hydronephrosis, Renal agenesis, Abnormal penis morphology, Abnormality of the urinar... ORPHA:2461
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Pollakisuria, Reduced ejection fraction, Right bundle branch block ORPHA:268
Msh3-Related Attenuated Familial Adenomatous Polyposis
Renal cyst, Ovarian dermoid cyst ORPHA:480536
Mosaic Trisomy 9
Horseshoe kidney, Hydronephrosis, Asplenia, Renal dysplasia, Multiple renal cysts, Hypoplasia of ... ORPHA:99776
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Renal dysplasia, Multicystic kidney dysplasia, Unilateral renal agenesis OMIM:308205
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Atrial fibrillation, Cardiac conduction abnormality, Supraventricular tac... ORPHA:273
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Exaggerated startle response OMIM:617301
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple small medullary renal cysts, Parathormone-independent increased renal tubular calcium re... OMIM:600740
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Renal agenesis ORPHA:1297
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Renal dysplasia, Renal cyst, Bifid ureter, Nephroblastoma OMIM:617107
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Limb tremor, Hypotension OMIM:608643
17Q12 Microdeletion Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Ureterocele, Multicystic kidney dysplasia ORPHA:261265
Transketolase Deficiency
Renal cyst, Increased level of ribose in urine ORPHA:488618
Genitopalatocardiac Syndrome
Hypospadias, Multicystic kidney dysplasia ORPHA:2075
Lymphangioleiomyomatosis
Optic atrophy, Hematuria, Gastrointestinal hemorrhage, Renal angiomyolipoma, Multiple renal cysts... ORPHA:538
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Chronic neutropenia, Renal malrotation, Retinal coloboma, Bifid ureter, Multicystic kidney dyspla... ORPHA:500095
Penile Agenesis
Cystic renal dysplasia, Bilateral renal hypoplasia, Hydronephrosis, Urethral fistula, Absent peni... ORPHA:49
Radio-Renal Syndrome
Renal dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3015
Focal Dermal Hypoplasia
Horseshoe kidney, Hydronephrosis, Chorioretinal coloboma, Telangiectasia of the skin, Renal hypop... ORPHA:2092
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Nephroblastoma ORPHA:1001
Trisomy 1Q
Congenital megaureter, Hydronephrosis, Multicystic kidney dysplasia ORPHA:261344
Simpson-Golabi-Behmel Syndrome
Hypospadias, Ureteral duplication, Hydronephrosis, Prolonged QT interval, Hydroureter, Cardiomyop... ORPHA:373
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Multicystic kidney dysplasia, Retinal detachment, Telangiect... ORPHA:1556
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Leukemia, Renal cyst, Micropenis, Nephroblastoma OMIM:257300
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response OMIM:272750
Mckusick-Kaufman Syndrome
Hydronephrosis, Urogenital sinus anomaly, Renal hypoplasia/aplasia, Multicystic kidney dysplasia,... ORPHA:2473
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Renal cyst, Systolic heart murmur OMIM:617478
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Tay-Sachs Disease
Tremor, Optic atrophy, Exaggerated startle response, Cherry red spot of the macula ORPHA:845
Alagille Syndrome 1
Renal hypoplasia, Focal segmental glomerulosclerosis, Pigmentary retinopathy, Renal tubular acido... OMIM:118450
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Renal cyst OMIM:616300
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Megacystis, Hydroureter ORPHA:2241
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Polysplenia, Enlarged kidney OMIM:200995
Oculocerebrorenal Syndrome Of Lowe
Nephrocalcinosis, Hematuria, Chorioretinal dysplasia, Anemia, Nephrolithiasis, Proximal renal tub... ORPHA:534
Fryns Syndrome
Hypospadias, Multicystic kidney dysplasia, Hydronephrosis, Vesicoureteral reflux ORPHA:2059
Meckel Syndrome
Optic atrophy, Ureteral duplication, Pancreatic cysts, Asplenia, Urethral atresia, Accessory sple... ORPHA:564
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Exaggerated startle response OMIM:617527
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:85201
Microgastria-Limb Reduction Defect Syndrome
Horseshoe kidney, Abnormality of the spleen, Renal agenesis, Renal dysplasia, Renal hypoplasia/ap... ORPHA:2538
Cardiac Diverticulum
Premature ventricular contraction, Syncope, Tricuspid stenosis, Palpitations, Ventricular tachyca... ORPHA:1686
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia ORPHA:261197
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Optic atrophy, Renal cyst, Vesicoureteral reflux OMIM:616975
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Exaggerated startle response ORPHA:521426
Smith-Lemli-Opitz Syndrome
Hypospadias, Renal hypoplasia, Hydronephrosis, Renal agenesis, Renal cyst, Micropenis, Ureteropel... OMIM:270400
Orofaciodigital Syndrome Type 1
Hypertension, Hydronephrosis, Pancreatic cysts, Tremor, Multicystic kidney dysplasia, Proteinuria... ORPHA:2750
Beckwith-Wiedemann Syndrome
Hypertrophic cardiomyopathy, Ureteral duplication, Choroideremia, Polycythemia, Congenital megaur... ORPHA:116
D-Bifunctional Protein Deficiency
Renal cyst, Splenomegaly OMIM:261515
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response ORPHA:438216
Cranioectodermal Dysplasia 2
Hypertension, Polysplenia, Renal cyst, Splenomegaly, Renal insufficiency OMIM:613610
1P36 Deletion Syndrome
Dilated cardiomyopathy, Abnormality of the spleen, Hydronephrosis, Telangiectasia, Hypospadias, O... ORPHA:1606
Absence Of The Pulmonary Artery
Reduced ejection fraction, Systolic heart murmur, Atrial fibrillation, Pulmonary arterial hyperte... ORPHA:980
African Trypanosomiasis
Myocarditis, Third degree atrioventricular block, Pericarditis, Splenomegaly, Second degree atrio... ORPHA:3385
Schinzel-Giedion Syndrome
Hypospadias, Hydronephrosis, Abnormality of the ureter, Renal cyst, Nephrolithiasis, Micropenis, ... ORPHA:798
Proteus Syndrome
Abnormality of retinal pigmentation, Retinal nonattachment, Thymus hyperplasia, Chorioretinal col... ORPHA:744
Williams Syndrome
Cerebral ischemia, Hypercalciuria, Abnormality of the bladder, Hypertrophic cardiomyopathy, Hyper... ORPHA:904
Craniofacial Microsomia
Renal agenesis, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Vesicoureteral ... OMIM:164210
Fryns Syndrome
Hypospadias, Ureteral duplication, Renal agenesis, Hydronephrosis, Renal cyst, Polysplenia OMIM:229850
Jacobsen Syndrome
Thrombocytopenia, Hydronephrosis, Aortic valve stenosis, Multicystic kidney dysplasia ORPHA:2308
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation, Renal cyst OMIM:272460
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Multicystic kidney dysplasia, Acute lymphoblastic leukemia, Nephroblastoma ORPHA:1052
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hypospadias, Hydronephrosis, Renal agenesis, Chordee, Pelvic kidney, Exaggerated startle response... OMIM:619522
Smith-Lemli-Opitz Syndrome
Hypospadias, Optic atrophy, Hydronephrosis, Abnormal localization of kidney, Multicystic kidney d... ORPHA:818
Cerebrocostomandibular Syndrome
Horseshoe kidney, Ectopic kidney, Renal cyst OMIM:117650
Hajdu-Cheney Syndrome
Hypospadias, Renal cyst OMIM:102500
Short-Rib Thoracic Dysplasia 12
Cystic renal dysplasia, Renal hypoplasia, Splenomegaly OMIM:269860
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Hajdu-Cheney Syndrome
Hypospadias, Mitral stenosis, Splenomegaly, Multiple renal cysts, Aortic valve stenosis ORPHA:955
Townes-Brocks Syndrome 1
Hypospadias, Renal hypoplasia, Urethral valve, Chorioretinal coloboma, Renal dysplasia, Multicyst... OMIM:107480
Friedreich Ataxia And Congenital Glaucoma
Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Con... OMIM:229310
Cerebrocostomandibular Syndrome
Meningocele, Multicystic kidney dysplasia, Myelomeningocele ORPHA:1393
Tetrasomy 9P
Horseshoe kidney, Hydronephrosis, Pericarditis, Renal dysplasia, Pulmonary arterial hypertension,... ORPHA:3310
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hydronephrosis, Optic disc pallor, Anemia, Exaggerated startle response, Nephrolithiasis, Pulmoni... ORPHA:438213
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Optic nerve hypoplasia, Renal cyst ORPHA:495875
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Hydronephrosis, Renal cyst, Cardiomyopathy, Pulmonic stenosis, Splenomegaly, Duplica... OMIM:312870
Friedreich Ataxia 2
Concentric hypertrophic cardiomyopathy, Abnormal EKG, Abnormal echocardiogram, Congestive heart f... OMIM:601992
Robinow Syndrome
Hydronephrosis, Pulmonic stenosis, Multicystic kidney dysplasia, Micropenis, Webbed penis ORPHA:97360
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
Townes-Brocks Syndrome
Hypospadias, Renal hypoplasia, Urethral valve, Chorioretinal coloboma, Multiple renal cysts, Vesi... ORPHA:857
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Micropenis, Renal cyst OMIM:210710
Trisomy 10P
Abnormality of the kidney, Multiple renal cysts ORPHA:171929
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Hypoplasia of penis ORPHA:1507
Distal Monosomy 15Q
Hypospadias, Abnormal localization of kidney, Mitral stenosis, Multicystic kidney dysplasia, Micr... ORPHA:1596
Peters Plus Syndrome
Hypospadias, Optic atrophy, Ureteral duplication, Hydronephrosis, Renal duplication, Pulmonic ste... ORPHA:709
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Concentric hypertrophic cardiomyopathy, Abnormal EKG, Abnormal echocardiogram, Congestive heart f... OMIM:302900
Fraser Syndrome
Hypospadias, Renal hypoplasia, Myelomeningocele, Urethral atresia, Multicystic kidney dysplasia, ... ORPHA:2052
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Hydronephrosis, Urethrovaginal fistula, Renal cyst, Hypoplasia of penis ORPHA:93271
C Syndrome
Horseshoe kidney, Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:1308
Branchiooculofacial Syndrome
Hypospadias, Renal agenesis, Renal cyst, Retinal coloboma OMIM:113620
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypospadias, Optic atrophy, Hydronephrosis, Asplenia, Retinal coloboma, Chordee, Pelvic kidney, W... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hypospadias, Hydronephrosis, Asplenia, Retinal coloboma, Chordee, Pelvic kidney, Renal duplicatio... ORPHA:261537
Mowat-Wilson Syndrome
Hypospadias, Hydronephrosis, Asplenia, Retinal coloboma, Chordee, Pelvic kidney, Renal duplicatio... ORPHA:2152
Cornelia De Lange Syndrome
Hypospadias, Multicystic kidney dysplasia, Vesicoureteral reflux, Hypoplasia of penis, Renal insu... ORPHA:199
Genitopatellar Syndrome
Multicystic kidney dysplasia, Micropenis, Hydronephrosis OMIM:606170
Pmm2-Cdg
Hypertrophic cardiomyopathy, Intracranial hemorrhage, Pericarditis, Photoreceptor layer loss on m... ORPHA:79318
Pallister-Killian Syndrome
Hypertrophic cardiomyopathy, Hypospadias, Renal dysplasia, Renal cyst, Aortic valve stenosis 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.

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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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