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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
abnormal retina morphology Zdhhc5tm1e.1(EUCOMM)Hmgu HOM Early adult 4.94×10-12
shortened PR interval Zdhhc5tm1e.1(EUCOMM)Hmgu HOM Early adult 9.82×10-05
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
abnormal auditory brainstem response Zdhhc5tm1e.1(EUCOMM)Hmgu HOM   Early adult 6.17×10-05
polycystic kidney Zdhhc5tm1e.1(EUCOMM)Hmgu HOM Early adult 0.00
abnormal retina vasculature morphology Zdhhc5tm1e.1(EUCOMM)Hmgu HOM Early adult 8.15×10-07
decreased total body fat amount Zdhhc5tm1e.1(EUCOMM)Hmgu HOM   Early adult 8.90×10-05
decreased startle reflex Zdhhc5tm1e.1(EUCOMM)Hmgu HOM Early adult 2.61×10-08

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

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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
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia, Retinal degeneration OMIM:614844
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation... OMIM:155100
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Myh9-Related Disease
Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Spontaneous, recurrent epistaxis, S... ORPHA:182050
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy OMIM:615987
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... OMIM:615193
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Progressive sensorineural hearing impairment, Enamel hypomineralization, Iron deficiency anemia, ... ORPHA:494444
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Meckel Syndrome 13
Flexion contracture, Polycystic kidney dysplasia, Retinopathy OMIM:617562
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Sp... OMIM:314050
Bardet-Biedl Syndrome 16
Hearing impairment, Renal agenesis, Recurrent otitis media, Stage 5 chronic kidney disease, Renal... OMIM:615993
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Spontaneous, recurrent epistaxis, Thrombocytopenia, Ma... OMIM:620486
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, EEG with burs... OMIM:261740
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia OMIM:137560
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Optic atrophy, Atrioventricular block, Atrial flutter, Congestive... ORPHA:137675
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency, Retinal vascular tortuosity ORPHA:73229
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Bernard-Soulier Syndrome
Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Impaired ristocetin-in... OMIM:231200
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... OMIM:615382
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Inguinal hernia, Tremor, Shortened PR interval, Wolff-Parkinson-White syndrome, Op... OMIM:614947
Slc35A1-Cdg
Cellulitis, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Thrombocytopenia, ... ORPHA:238459
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Hearing impairment, Epiretinal membrane, Trac... ORPHA:891
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney, Rod-cone dystrophy, Retinal degeneration OMIM:615982
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Hearing impairment, Umbilical hernia, Thrombocytopenia, Ventricular arrhyt... OMIM:620475
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Glycogen Storage Disease Ii
Sinus tachycardia, Hearing impairment, Splenomegaly, Shortened PR interval, Subarachnoid hemorrha... OMIM:232300
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Low-set ears, Hydronephrosis, Thrombocytopenia, Increased mean platelet volume OMIM:300048
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal arteriolar tortuosity, Renal insufficiency, Lacunar stroke, Hematuria, Renal cyst, Raynau... OMIM:611773
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... OMIM:617443
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... OMIM:618061
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Retinal degeneration, Arrhythmia, Hypsarrhythmia, Bradycardia, Sick si... ORPHA:542306
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Takenouchi-Kosaki Syndrome
Low-set ears, Optic atrophy, Hypospadias, Unilateral renal agenesis, Inguinal hernia, Sensorineur... OMIM:616737
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hearing impairment, Oligosacchariduria, Hypertrophic cardiomyopathy, Shortened PR interval, Left ... ORPHA:308552
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Thyrotoxic Periodic Paralysis
Second degree atrioventricular block, Urinary retention, Palpitations, Tremor, Shortened PR inter... ORPHA:79102
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Epistaxis, Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired coll... OMIM:153670
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Pelger-Huet Anomaly
Giant platelets, Umbilical hernia, Recurrent otitis media, Hyposegmentation of neutrophil nuclei,... OMIM:169400
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Portal hypertension, Splenomegaly, ... OMIM:263200
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis, Choreoathetosis, Retinal degeneration OMIM:257970
Eales Disease
Epistaxis, Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epir... ORPHA:40923
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Hearing impairment, Optic disc coloboma, Retinal ... ORPHA:1475
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Spontaneou... ORPHA:274
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Mitral regurgitation, Hypertension, Polycystic kidney dysplasia OMIM:173900
Sinoatrial Node Dysfunction And Deafness
Hearing impairment, Abnormal QRS complex, Syncope, Bradycardia, Increased heart rate variability OMIM:614896
Abcd Syndrome
Abnormal auditory evoked potentials, Polycythemia, Hypopigmentation of the fundus, Hearing impair... OMIM:600501
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Mitral regurgitation, Sh... OMIM:620066
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Meckel Syndrome, Type 8
Low-set ears, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Cardiomyopathy, Sensorineural hearing impairment, Abnormal retinal nerve fiber lay... ORPHA:1215
Nephronophthisis 9
Nephronophthisis, Stage 5 chronic kidney disease, Retinal degeneration, Polyuria, Anemia, Renal c... OMIM:613824
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hypertension, Hepatic cysts OMIM:600666
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Dilatated internal auditory canal, Cupped ear, Conductive hearing impa... OMIM:113650
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Femoral-Facial Syndrome
Low-set ears, Long penis, Inguinal hernia, Renal hypoplasia/aplasia, Abnormal localization of kid... ORPHA:1988
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Generalized dystonia, Abnormality of ... ORPHA:52368
Peroxisome Biogenesis Disorder 3A (Zellweger)
Low-set ears, Polycystic kidney dysplasia OMIM:614859
Congenital Disorder Of Glycosylation, Type Iig
Low-set ears, Hypospadias, Giant platelets, Conductive hearing impairment, Renal insufficiency, C... OMIM:611209
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Sensorineural hearing impairment, Hematuria... OMIM:120330
Senior-Loken Syndrome 7
Nephronophthisis, Retinal degeneration OMIM:613615
Hyperparathyroidism 2 With Jaw Tumors
Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney dysplasia, Ren... OMIM:145001
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Pigmentary retinopathy, Joint contracture of the hand, Abnormal helix morphology, ... OMIM:214110
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Sensorineural hearing impairment, Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggr... OMIM:124900
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Gillessen-Kaesbach-Nishimura Syndrome
Low-set ears, Large fleshy ears, Congenital diaphragmatic hernia, Omphalocele, Polycystic kidney ... OMIM:263210
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis, Hearing impairment, Rod-cone dystrophy ORPHA:140976
Arima Syndrome
Optic atrophy, Nephronophthisis, Chorioretinal coloboma, Stage 5 chronic kidney disease, Renal so... OMIM:243910
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Distal Triplication 15Q
Low-set ears, Abnormal helix morphology, Cupped ear, Dilatation of the renal pelvis, Horseshoe ki... ORPHA:314588
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Optic atrophy, Pigmentary retinopathy, Low-set ears, Abnormal helix morphol... OMIM:614866
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic ... OMIM:613095
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Hearing impairment, Oligosacchariduria, Hypertrophic cardiomyopathy, Transient ischem... ORPHA:365
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Epistaxis, Thrombocytopenia OMIM:616176
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Sensorineural hearing impairment, Absent brainstem auditory responses,... OMIM:617519
Joubert Syndrome 16
Renal cyst, Nephronophthisis, Retinal dystrophy OMIM:614465
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Attenuation of retinal blood vessels, Retinal degeneration, ... OMIM:619260
Congenital Disorder Of Glycosylation, Type Il
Low-set ears, Lipodystrophy, Polycystic kidney dysplasia, Splenomegaly OMIM:608776
Trisomy 17P
Aortic valve stenosis, Low-set ears, Hearing impairment, Hydronephrosis, Flexion contracture, Ure... ORPHA:261290
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Joubert Syndrome 20
Renal cyst, Retinopathy OMIM:614970
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Low-set ears, Dilated cardiomyopathy, Elbow flexion contracture, Renal insufficiency, Knee flexio... OMIM:608836
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Optic atrophy, Unilateral renal agenesis, Hearing impairment, Low-set, posteriorly rotated ears, ... ORPHA:487796
Joubert Syndrome 39
Polycystic kidney dysplasia, Joint contracture of the 5th finger, Retinal dystrophy OMIM:619562
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia, Polysplenia OMIM:211890
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Hypersplenism, Portal hy... OMIM:619902
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Joint contracture, Exa... OMIM:616881
Nathalie Syndrome
Hearing impairment, Abnormal EKG OMIM:255990
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Low-set ears, Galactosuria, Renal cortical microcysts, Splenomegaly, Thromb... OMIM:222470
Bardet-Biedl Syndrome 6
Renal cyst, Pigmentary retinopathy, Hypospadias, Rod-cone dystrophy OMIM:605231
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Cardiomyopathy, Congestive heart failure, Arrhythmi... ORPHA:26791
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Syndromic Diarrhea
Aortic regurgitation, Renal hypoplasia, Lymphopenia, Inguinal hernia, Splenomegaly, Hypoplasia of... ORPHA:84064
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Cardiomyopathy, Stage 5 chronic kidney disease, Arrhythmia, Myoglobinuria, Renal... ORPHA:157
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Abnormal renal tu... ORPHA:1909
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Arrhythmia, Myoglobi... ORPHA:228308
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy... OMIM:231680
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Progressive sensorineural hearing impairment, Renal insufficiency, Ves... ORPHA:2237
Bardet-Biedl Syndrome 17
Stage 5 chronic kidney disease, Retinal degeneration, Cone/cone-rod dystrophy, Renal cyst, Bone s... OMIM:615994
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Leukopenia, Epiretinal membrane, Attenuation of retina... OMIM:616959
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Polysplenia, Stage 5 chronic kidney disease, Portal hypertension, Splenome... OMIM:208540
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Low-set ears, Umbilical hernia, Portal hypertension, Splenomegaly, Splenic cyst, Sensorineural he... OMIM:610199
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Tuberous Sclerosis Complex
Chorioretinal hypopigmentation, Chronic kidney disease, Retinal astrocytic hamartoma, Renal insuf... ORPHA:805
Thrombocytopenia 3
Decreased mean platelet volume, Epistaxis, Thrombocytopenia OMIM:273900
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney disease, Renal cyst, Neutropenia,... OMIM:617056
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst OMIM:614091
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Low-set ears, Retinal coloboma, Congenital diaphragmatic hernia, Micropenis, Polycystic kidney dy... OMIM:616546
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Cla... OMIM:601455
Joubert Syndrome 35
Low-set ears, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, H... OMIM:618161
Phelan-Mcdermid Syndrome
Cellulitis, Hearing impairment, Vesicoureteral reflux, Protruding ear, Abnormality of the kidney,... OMIM:606232
Atrial Septal Defect, Ostium Primum Type
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... ORPHA:99106
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Cockayne Syndrome Type 1
Optic atrophy, Pigmentary retinopathy, Foot joint contracture, Hearing impairment, Renal insuffic... ORPHA:90321
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Low-set ears, Horseshoe kidney, Abnormality of pattern visual evoked potentials, Inguinal hernia,... ORPHA:166035
Joubert Syndrome 7
Renal cyst, Stage 5 chronic kidney disease, Retinal dystrophy, Nephronophthisis OMIM:611560
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Absent brainstem auditory responses, Thrombocytopenia, Hypochromic microcytic an... ORPHA:3240
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Aminoaciduria, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Pr... OMIM:603585
Peroxisome Biogenesis Disorder 6A (Zellweger)
Low-set ears, Renal cyst OMIM:614870
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Nephropathy, Macular edema, Gastrointestinal hemorrhage, Cardiomyopathy, Punct... ORPHA:247691
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis ORPHA:3033
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Flexion contracture, Optic atrophy, Exaggerated startle response OMIM:609541
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Retin... OMIM:613550
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Hypertension ORPHA:2111
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Multiple joint contractures, Exaggerated startle response ORPHA:320406
22Q11.2 Deletion Syndrome
Low-set ears, Hearing impairment, Hypospadias, Chronic otitis media, Polycystic kidney dysplasia,... ORPHA:567
Neuromuscular Oculoauditory Syndrome
Retinal pigment epithelial mottling, Decreased amplitude of sensory action potentials, Decreased ... OMIM:618733
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Sensorineural hearing impairment, Arrhythmi... OMIM:216400
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Abnormal autonomic nervous syste... ORPHA:101016
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia, Spontaneous, recurrent epistaxis OMIM:620484
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Ogden Syndrome
Low-set ears, Torsade de pointes, Recurrent otitis media, Premature ventricular contraction, Arrh... OMIM:300855
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Thrombocytopenia 1
Decreased mean platelet volume, Epistaxis, Congenital thrombocytopenia, Joint hemorrhage, Intermi... OMIM:313900
Epidermal Nevus Syndrome
Lipoma, Polycystic kidney dysplasia ORPHA:35125
Von Hippel-Lindau Disease
Retinal capillary hemangioma, Macular edema, Polycythemia, Cardiomyopathy, Palpitations, Elevated... ORPHA:892
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Muscular Dystrophy, Cardiac Type
Carnosinuria, Cardiomyopathy, Abnormal EKG OMIM:309930
Autosomal Recessive Polycystic Kidney Disease
Low-set ears, Gastrointestinal hemorrhage, Acute kidney injury, Oliguria, Recurrent urinary tract... ORPHA:731
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Muscular Dystrophy, Becker Type
Arrhythmia, Cardiomyopathy, Abnormal EKG OMIM:300376
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cellulitis, Vasculitis, Decreased mean platelet volume, Hematochezia, Lymphocytosis, Thrombocytop... OMIM:617718
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Ch... ORPHA:206436
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Abnormal auditory evoked potentials, Urinary retention, Abnormality o... ORPHA:99027
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Protruding ear,... ORPHA:1166
15q26 overgrowth syndrome
Low-set ears, Renal agenesis, Duplication of renal pelvis, Camptodactyly of finger, Horseshoe kid... DECIPHER:81
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:256100
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Multiple renal cysts ORPHA:2924
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Wild Type Attr Amyloidosis
Aortic valve stenosis, Nephropathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorm... ORPHA:330001
Caroli Syndrome
Hypersplenism, Leukopenia, Leukocytosis, Portal hypertension, Hematemesis, Thrombocytopenia, Mele... ORPHA:480520
Meckel Syndrome 14
Tricuspid regurgitation, Low-set ears, Polycystic kidney dysplasia, Mitral regurgitation OMIM:619879
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Micropenis, Polycystic kidney dysplasia, Retinal dystrophy OMIM:263520
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Epistaxis, Nephropathy, Decreased proportion of CD8-positive T ce... OMIM:301000
Bor Syndrome
Multicystic kidney dysplasia, Atresia of the external auditory canal, Hearing impairment, Enlarge... ORPHA:107
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Decreased nerve conduction velocity, Head tremor, Sensorineural hearing impairment, ... ORPHA:101085
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Protruding ear, Multicystic kidney dysplasia ORPHA:3270
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria... OMIM:610205
Medullary cystic kidney disease 2
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedu... OMIM:603860
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cyst, Multiple lipomas, Renal cell carcinoma OMIM:135150
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder flexion contracture,... OMIM:193700
Cockayne Syndrome B
Optic atrophy, Pigmentary retinopathy, Atypical scarring of skin, Abnormal auditory evoked potent... OMIM:133540
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Orofaciodigital Syndrome I
Low-set ears, Hearing impairment, Hepatic cysts, Ovarian cyst, Proteinuria, Enamel hypoplasia, Po... OMIM:311200
Trisomy 13
Low-set ears, Optic atrophy, Abnormal helix morphology, Abnormality of the ureter, Abnormal antih... ORPHA:3378
Genitopalatocardiac Syndrome
Low-set ears, Renal cyst, Hypospadias OMIM:231060
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Congenital Sialidosis Type 2
Low-set ears, Optic atrophy, Hearing impairment, Cherry red spot of the macula, Umbilical hernia,... ORPHA:93400
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Absence of alpha granul... OMIM:187900
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Hearing impairment OMIM:619074
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Cardiomyopathy, Tremor, Abnormal subcutaneous fat tissue distribution, Prot... OMIM:212065
Caroli Disease
Polycystic kidney dysplasia, Leukocytosis, Splenomegaly, Portal hypertension ORPHA:53035
Acrorenal-Mandibular Syndrome
Low-set ears, Renal agenesis, Aplasia of the bladder, Elbow flexion contracture, Abnormality of t... OMIM:200980
Hajdu-Cheney Syndrome
Low-set ears, Hypospadias, Conductive hearing impairment, Umbilical hernia, Large earlobe, Inguin... OMIM:102500
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney OMIM:613091
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Chorioretinal coloboma, Low-set, posteriorly rotated ears, Protrudi... ORPHA:2031
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Distal Deletion 12Q
Low-set ears, Bilateral conductive hearing impairment, Prominent ear helix, Elbow flexion contrac... ORPHA:96149
Peroxisome Biogenesis Disorder 1B
Optic atrophy, Hyperoxaluria, Sensorineural hearing impairment, Renal cyst, Rod-cone dystrophy OMIM:601539
Gitelman Syndrome
Urinary incontinence, Ventricular fibrillation, Tubulointerstitial nephritis, Renal potassium was... ORPHA:358
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Low-set ears, Hypoautofluorescent retinal lesion, Horseshoe kidney, Retinal degeneration, Renal c... OMIM:250410
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypotension, Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal ... OMIM:174000
Friedreich Ataxia
Optic atrophy, Decreased amplitude of sensory action potentials, Abnormal EKG, Hypertrophic cardi... OMIM:229300
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Mitral regurgitation, Exaggerated startle response, Cherry red spot of the ma... ORPHA:309155
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy, Renal hypoplasia, Tricuspid regurgitation, Lymphopenia, Corneal scarring,... OMIM:618460
Mogs-Cdg
Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Absent brainstem auditory re... ORPHA:79330
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Infection associated neutropenia, Cardiomyopathy, Renal insufficiency, 3-Methyl... ORPHA:445038
Roberts Syndrome
Long penis, Knee flexion contracture, Wrist flexion contracture, Progressive flexion contractures... ORPHA:3103
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormality of the spleen, Abnormality of the ureter, Congenit... ORPHA:1834
Verheij Syndrome
Renal cyst, Renal hypoplasia, Renal agenesis, Optic nerve hypoplasia OMIM:615583
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Low-set ears, Renal hypoplasia, Ureteral agenesis, Renal cyst, Arthrogryposis multiplex congenita... OMIM:236500
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, EEG with generalized slow activity, Joint contracture, Macrotia, Op... OMIM:617864
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Cupped ear, Horseshoe kidney, Pyelon... OMIM:301111
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Cherry red spot of the macula ORPHA:309246
Joubert Syndrome 18
Camptodactyly, Renal cyst, Horseshoe kidney OMIM:614815
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response, Anemia, Tachycardia, Hypertension OMIM:184850
Joubert Syndrome 14
Low-set ears, Optic atrophy, Renal cyst, Posteriorly rotated ears, Intracranial hemorrhage, Hyper... OMIM:614424
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Say Syndrome
Cystic renal dysplasia, Macrotia, Proximal renal tubular acidosis OMIM:181180
Meckel Syndrome, Type 1
Accessory spleen, Low-set ears, Hypoplasia of the bladder, Renal agenesis, Camptodactyly of finge... OMIM:249000
Mckusick-Kaufman Syndrome
Hydroureter, Vesicovaginal fistula, Hydronephrosis, Aganglionic megacolon, Polycystic kidney dysp... OMIM:236700
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
Immunodeficiency 96
Multicystic kidney dysplasia, Increased proportion of gamma-delta T cells, Increased mean corpusc... OMIM:619774
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Von Hippel-Lindau Syndrome
Retinal capillary hemangioma, Polycythemia, Sensorineural hearing impairment, Tinnitus, Multiple ... OMIM:193300
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Low-set ears, Optic atrophy, Increased urine alpha-ketoglutarate concentration, Hearing impairmen... OMIM:220500
Mody
Nephropathy, Glycosuria, Retinopathy, Renal cyst, Abnormality of the kidney, Elevated hemoglobin A1c ORPHA:552
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Hearing impairment, Cardiomyopathy, Renal insufficiency, Renal tubular acidosis... OMIM:614922
Thauvin-Robinet-Faivre Syndrome
Retinal coloboma, Bifid ureter, Transient neutropenia, Inguinal hernia, Nephroblastoma, Sensorine... OMIM:617107
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Trisomy X
Multicystic kidney dysplasia, Tremor, Renal hypoplasia/aplasia ORPHA:3375
Nephronophthisis 4
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... OMIM:606966
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Dilated cardiomyopathy, Retinal detachment, Exaggerated startle response, Retinal ... OMIM:253800
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Resting tre... ORPHA:909
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Enamel hypoplasia, Thrombocytopenia, Camptodactyly, Posteriorly rot... OMIM:619980
Hyperekplexia 3
Hiatus hernia, Syncope, Exaggerated startle response OMIM:614618
Sandhoff Disease
Cherry red spot of the macula, Hepatosplenomegaly, Increased urinary N-acetylglucosamine-rich oli... OMIM:268800
Gm1 Gangliosidosis Type 1
Abnormal odontoid tissue morphology, Low-set ears, Hearing impairment, Cardiomyopathy, Cherry red... ORPHA:79255
Glycine Encephalopathy With Normal Serum Glycine
Low-set ears, Optic atrophy, Elbow flexion contracture, Hip contracture, Exaggerated startle resp... OMIM:617301
Floating-Harbor Syndrome
Low-set ears, Nephrocalcinosis, Dilatation of the renal pelvis, Conductive hearing impairment, Re... ORPHA:2044
Joubert Syndrome 1
Low-set ears, Nephropathy, Optic disc coloboma, Chorioretinal coloboma, Renal cyst, Optic disc pa... OMIM:213300
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Prolonged PR interval OMIM:108900
Tuberous Sclerosis 2
Hearing impairment, Renal angiomyolipoma, Renal cyst, Achromatic retinal patches, Renal cell carc... OMIM:613254
Joubert Syndrome With Hepatic Defect
Low-set ears, Nephropathy, Multicystic kidney dysplasia, Optic disc coloboma, Chorioretinal colob... ORPHA:1454
Bardet-Biedl Syndrome 12
Hydronephrosis, Cystic renal dysplasia, Hydroureter, Rod-cone dystrophy OMIM:615989
Al Amyloidosis
Howell-Jolly bodies, Gastrointestinal hemorrhage, Nephrotic syndrome, Postural hypotension with c... ORPHA:85443
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the... ORPHA:2970
Tay-Sachs Disease
Exaggerated startle response, Cherry red spot of the macula OMIM:272800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Low-set ears, Nephrocalcinosis, Restrictive cardiomyopathy, Hydroureter, Ureteral stenosis, Renal... OMIM:615398
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hearing impairment, Tremor, Hydronephrosis, Exaggerated startle response, Limb joint contracture OMIM:620327
Zellweger Syndrome
Optic atrophy, Multicystic kidney dysplasia, Sensorineural hearing impairment, Hydronephrosis, EE... ORPHA:912
Cornelia De Lange Syndrome 1
Low-set ears, Optic atrophy, Renal hypoplasia, Conductive hearing impairment, Optic disc coloboma... OMIM:122470
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease OMIM:613390
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Low-set ears, Renal hypoplasia, Shoulder flexion contracture, Elbow flexion contracture, Knee fle... OMIM:210710
Meckel Syndrome, Type 10
Renal cyst, Micropenis, Camptodactyly, Hypospadias, Abnormal pinna morphology OMIM:614175
Joubert Syndrome 2
Low-set ears, Nephronophthisis, Optic disc coloboma, Chorioretinal coloboma, Renal insufficiency,... OMIM:608091
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Hepatosplenomegaly, Short-segment agangl... OMIM:609136
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Optic atrophy, Low-set ears, Multicystic kidney dysplasia, Hearing impairme... ORPHA:261349
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural hearing impairment ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural hearing impairment ORPHA:529808
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Ankle flexion contracture, Aortic regurgitation, Unilateral renal agenesis... ORPHA:464311
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Tuberous Sclerosis 1
Dental enamel pits, Renal angiomyolipoma, Renal cyst, Achromatic retinal patches, Renal cell carc... OMIM:191100
Kleefstra Syndrome
Hearing impairment, Renal insufficiency, Vesicoureteral reflux, Hernia, Hydronephrosis, Arrhythmi... ORPHA:261494
Developmental Delay With Or Without Dysmorphic Facies And Autism
Low-set ears, Renal hypoplasia, Hearing impairment, Optic disc coloboma, Umbilical hernia, Microp... OMIM:618454
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Urinary incontinence, EEG abnormality ORPHA:206448
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Low-set ears, Acute kidney injury, Macular degeneration, Nephronophthisis, Umbilical hernia, Hepa... OMIM:266920
Cardiogenic Shock
Hypotension, Oliguria, Right ventricular failure, Abnormal left ventricular function, Congestive ... ORPHA:97292
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Nabais Sa-De Vries Syndrome, Type 2
Low-set ears, Multicystic kidney dysplasia, Protruding ear, Dystonia, Posteriorly rotated ears, M... OMIM:618829
Focal Dermal Hypoplasia
Low-set ears, Multicystic kidney dysplasia, Hearing impairment, Chorioretinal coloboma, Camptodac... ORPHA:2092
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Partial development of the penile shaft, Exaggerated startle response, Bradycardia OMIM:608800
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Multiple renal cys... ORPHA:171929
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal insufficiency, Retinal degeneration, Proteinuria, Renal ... OMIM:208500
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Hypotension, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerat... OMIM:608643
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Femoral-Facial Syndrome
Low-set ears, Abnormal renal collecting system morphology, Renal agenesis, Camptodactyly of finge... OMIM:134780
Developmental And Epileptic Encephalopathy 68
Flexion contracture, Exaggerated startle response OMIM:618201
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Hepatic cysts, Cystic renal dysplasia, Asplen... OMIM:615415
Trisomy 20P
Umbilical hernia, Camptodactyly of finger, Low-set, posteriorly rotated ears, Abnormality of the ... ORPHA:261318
Joubert Syndrome 21
Optic atrophy, Hyperechogenic kidneys, Retinopathy, Splenomegaly, Sensorineural hearing impairmen... OMIM:615636
Developmental And Epileptic Encephalopathy 49
Optic atrophy, EEG abnormality, Macrotia, Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Contractures of the large joints, Low-set, posteriorly rotated ears, Sensorineural... ORPHA:521426
Atelosteogenesis Type I
Low-set ears, Retinal dysplasia, Multiple renal cysts ORPHA:1190
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EKG, Hamstring contrac... OMIM:310200
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Abnormality of the ureter, Enlarged polycystic ovaries, Multiple ren... ORPHA:2869
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Optic atrophy, Ketonuria, Abnormal EKG, Sensorineural hearing impairment, Arrhythmia, Prolonged Q... ORPHA:480864
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Retinal coloboma, Bifid ureter, Transient neutropenia, Inguinal her... ORPHA:500095
Pearson Syndrome
Pigmentary retinopathy, Hearing impairment, Cardiomyopathy, Glycosuria, Pancytopenia, Renal insuf... ORPHA:699
Meckel Syndrome, Type 7
Aortic valve stenosis, Multicystic kidney dysplasia, Hepatosplenomegaly, Stage 5 chronic kidney d... OMIM:267010
Pagod Syndrome
Optic atrophy, Multicystic kidney dysplasia, Abnormality of the spleen, Congenital diaphragmatic ... ORPHA:991
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Conductive hearing impairment, Congenital diaphragmatic hernia, Sen... ORPHA:261197
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Chondrocalcinosis, Renal hamartoma, Shortened QT interval, Renal insufficiency,... ORPHA:99880
Hyperekplexia 2
Hiatus hernia, Exaggerated startle response OMIM:614619
Kaposiform Lymphangiomatosis
Epistaxis, Pancreatic cysts, Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Multip... ORPHA:464329
Diaphanospondylodysostosis
Low-set ears, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Inguinal hernia, Enlarged ... OMIM:608022
Vacterl/Vater Association
Hypospadias, Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Low-set, p... ORPHA:887
Parathyroid Carcinoma
Nephrocalcinosis, Chondrocalcinosis, Renal hamartoma, Shortened QT interval, Renal insufficiency,... ORPHA:143
Severe Generalized Junctional Epidermolysis Bullosa
Duplicated collecting system, Multicystic kidney dysplasia, Dilated cardiomyopathy, Hydroureter, ... ORPHA:79404
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Trisomy 1Q
Low-set ears, Multicystic kidney dysplasia, Camptodactyly of finger, Congenital diaphragmatic her... ORPHA:261344
Hyperekplexia 1
Inguinal hernia, Exaggerated startle response, Umbilical hernia OMIM:149400
Axial Osteomalacia
Renal cyst OMIM:109130
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Aortic regurgitation, Unilateral renal agenesis, Multiple joint contractur... ORPHA:464306
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
Tay-Sachs Disease
Optic atrophy, Hearing impairment, Laryngeal dystonia, Cherry red spot of the macula, Tremor, Exa... ORPHA:845
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Branchio-Oculo-Facial Syndrome
Atypical scarring of skin, Multicystic kidney dysplasia, Conductive hearing impairment, Renal age... ORPHA:1297
Mosaic Trisomy 1
Low-set ears, Camptodactyly of finger, Elbow flexion contracture, Renal cortical cysts, Congenita... ORPHA:1692
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low-set ears, Nephrocalcinosis, Restrictive cardiomyopathy, Abnormality of the urinary system, He... ORPHA:369837
Mosaic Variegated Aneuploidy Syndrome 1
Low-set ears, Hypospadias, Multicystic kidney dysplasia, Nephroblastoma, Renal cyst, Micropenis, ... OMIM:257300
Asparagine Synthetase Deficiency
EEG with burst suppression, Tremor, Simple ear, Hypsarrhythmia, Exaggerated startle response, Mac... OMIM:615574
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Multicystic kidney dysplasia, Septo-optic dysplasia, Microtia ORPHA:3301
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Hearing impairment, Exaggerated startle response OMIM:620114
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Posteriorly rotated ears, Exaggerated startle response OMIM:618598
Congenital Bile Acid Synthesis Defect Type 2
Renal cyst, Dark urine, Extramedullary hematopoiesis ORPHA:79303
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts OMIM:263630
Combined Oxidative Phosphorylation Deficiency 58
Low-set ears, Optic atrophy, Lacticaciduria, Exaggerated startle response OMIM:620451
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Joubert Syndrome 5
Nephronophthisis, Retinal coloboma, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced... OMIM:610188
Lymphangioleiomyomatosis
Optic atrophy, Gastrointestinal hemorrhage, Abnormal urinary color, Hematuria, Renal angiomyolipo... ORPHA:538
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Low-set ears, EEG with burst suppression, Mitral stenosis, Renal cyst, Posteriorly rotated ears, ... OMIM:617260
Meckel Syndrome, Type 2
Renal cyst, Omphalocele OMIM:603194
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ankle flexion contracture, Low-set ears, Hypospadias, Long penis, Elbow flexion... OMIM:268300
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Low-set ears, Optic atrophy, Contractures of the large joints, Exaggerated startle response, Post... OMIM:617527
Hypocalciuric Hypercalcemia, Familial, Type Iii
Chondrocalcinosis, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Neph... OMIM:600740
Alveolar Echinococcosis
Budd-Chiari syndrome, Portal hypertension, Hepatic cysts, Abnormal bladder morphology, Renal cyst... ORPHA:284
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Low-set ears, Protruding ear, Fetal megacystis, Multicystic kidney dysplasia ORPHA:73246
Congenital Disorder Of Glycosylation, Type Ib
Renal cyst, Proximal tubulopathy OMIM:602579
Cystic Echinococcosis
Hepatic cysts, Splenic cyst, Ovarian cyst, Renal cyst, Eosinophilia, Membranous nephropathy ORPHA:400
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Conductive hearing impairment, Umbilical hernia, Congenital diaphra... ORPHA:1001
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Renal hypoplasia/aplasia, ... ORPHA:2973
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Low-set ears, Renal cyst, Mixed hearing impairment, Cupped ear OMIM:615560
Spondylocarpotarsal Synostosis Syndrome
Inguinal hernia, Abnormality of retinal pigmentation, Sensorineural hearing impairment, Renal cys... OMIM:272460
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Fliedner-Zweier Syndrome
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia OMIM:620511
Marden-Walker Syndrome
Low-set ears, Hypospadias, Multicystic kidney dysplasia, Abnormal penis morphology, Arthrogryposi... ORPHA:2461
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Hearing impairment, Horseshoe ... ORPHA:93111
Ulbright-Hodes Syndrome
Low-set ears, Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia, Abnormal ... ORPHA:3404
Genitopatellar Syndrome
Low-set ears, Multicystic kidney dysplasia, Hearing impairment, Knee flexion contracture, Hip con... ORPHA:85201
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Elevated urinary dopamine level, Abnormal EKG, Syncope, Orthostatic hypotens... ORPHA:230
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Hearing impairment, Ureterocele, Renal insufficiency, Renal hypopla... ORPHA:261265
Genitopalatocardiac Syndrome
Low-set ears, Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia ORPHA:2075
Multiple Mitochondrial Dysfunctions Syndrome 7
EEG with burst suppression, Hypsarrhythmia, Thrombocytopenia, Exaggerated startle response, Dystonia OMIM:620423
Beckwith-Wiedemann Syndrome
Nephropathy, Hearing impairment, Abnormal earlobe morphology, Congenital diaphragmatic hernia, Po... ORPHA:116
Oculocerebrorenal Syndrome Of Lowe
Hematuria, Proximal renal tubular acidosis, Chorioretinal dysplasia, Chronic otitis media, Aminoa... ORPHA:534
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Telangiectasia of the skin, Retinal detachment, Displacement of the... ORPHA:1556
Pallister-Hall Syndrome
Renal hypoplasia, Hydroureter, Atresia of the external auditory canal, Distal urethral duplicatio... OMIM:146510
Simpson-Golabi-Behmel Syndrome
Abnormal helix morphology, Multicystic kidney dysplasia, Hydroureter, Polysplenia, Umbilical hern... ORPHA:373
Harrod Syndrome
Protruding ear, Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Mosaic Trisomy 9
Low-set ears, Camptodactyly of finger, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, As... ORPHA:99776
Fryns Syndrome
Multicystic kidney dysplasia, Low-set, posteriorly rotated ears, Vesicoureteral reflux, Congenita... ORPHA:2059
Acrocephalopolydactylous Dysplasia
Low-set ears, Polysplenia, Omphalocele, Abnormal pinna morphology, Cystic renal dysplasia, Enlarg... OMIM:200995
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst, Hearing impairment ORPHA:488618
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Abnormal pinna morphology, Exaggerated startle response ORPHA:438216
1P36 Deletion Syndrome
Optic atrophy, Dilated cardiomyopathy, Conductive hearing impairment, Camptodactyly of finger, Oc... ORPHA:1606
Meckel Syndrome, Type 6
Horseshoe kidney, Renal cyst, Hepatic cysts, Aplasia of the bladder OMIM:612284
Schinzel-Giedion Syndrome
Low-set ears, Abnormal helix morphology, Umbilical hernia, Large earlobe, Abnormality of the uret... ORPHA:798
Campomelia, Cumming Type
Multicystic kidney dysplasia, Pancreatic cysts, Multiple renal cysts ORPHA:1318
D-Bifunctional Protein Deficiency
Low-set ears, Hearing impairment, Decreased nerve conduction velocity, Splenomegaly, Renal cyst OMIM:261515
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Low-set ears, Optic atrophy, Hypospadias, Vesicoureteral reflux, Sensorineural hearing impairment... OMIM:616975
Fryns Syndrome
Low-set ears, Joint contracture of the hand, Abnormal helix morphology, Renal agenesis, Polysplen... OMIM:229850
Proteus Syndrome
Low-set ears, Retinal nonattachment, Long penis, Thymus hyperplasia, Pulmonary embolism, Choriore... ORPHA:744
Mayer-Rokitansky-Kuster-Hauser Syndrome
Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,... OMIM:277000
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis, Umbilical hernia, Omphalocele ORPHA:2241
Smith-Lemli-Opitz Syndrome
Low-set ears, Hypospadias, Renal hypoplasia, Unilateral renal agenesis, Hearing impairment, Renal... OMIM:270400
Alagille Syndrome 1
Low-set ears, Focal segmental glomerulosclerosis, Pigmentary retinopathy, Renal hypoplasia, Multi... OMIM:118450
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Hearing impairment, Abnormal dental enamel morphology, Renal insuff... ORPHA:2750
Meckel Syndrome, Type 4
Renal cyst OMIM:611134
Structural Heart Defects And Renal Anomalies Syndrome
Low-set ears, Renal cyst, Renal insufficiency, Systolic heart murmur OMIM:617478
Meckel Syndrome
Accessory spleen, Optic atrophy, Multicystic kidney dysplasia, Low-set, posteriorly rotated ears,... ORPHA:564
Familial Adenomatous Polyposis 4
Renal cyst, Ovarian cyst OMIM:617100
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Glandular hypospadias, Renal hypoplasia/aplasia, Urethral stricture... ORPHA:2473
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Left ventricular systolic dysfunction, Prolonged QRS complex, Supraventri... ORPHA:273
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Mend Syndrome
Aortic valve stenosis, Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Bardet-Biedl Syndrome
Chronic kidney disease, Hearing impairment, Cardiomyopathy, Low-set, posteriorly rotated ears, Ho... ORPHA:110
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal cyst, Renal hypoplasia, Omphalocele, Macrotia OMIM:616300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Optic nerve dysplasia, Hydronephrosis, Micropenis, Retinal dysplasia OMIM:615287
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, F... ORPHA:49
Williams Syndrome
Mitral regurgitation, Sensorineural hearing impairment, Polycystic ovaries, Chronic otitis media,... ORPHA:904
Short-Rib Thoracic Dysplasia 12
Low-set ears, Renal hypoplasia, Splenomegaly, Inguinal hernia, Omphalocele, Posteriorly rotated e... OMIM:269860
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of the spleen, Crosse... ORPHA:2538
Smith-Lemli-Opitz Syndrome
Optic atrophy, Multicystic kidney dysplasia, Abnormal localization of kidney, Abnormal dental ena... ORPHA:818
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Msh3-Related Attenuated Familial Adenomatous Polyposis
Renal cyst, Ovarian dermoid cyst ORPHA:480536
Tetrasomy 9P
Abnormal earlobe morphology, Umbilical hernia, Abnormal dental enamel morphology, Recurrent urina... ORPHA:3310
Hajdu-Cheney Syndrome
Aortic valve stenosis, Low-set ears, Hearing impairment, Umbilical hernia, Splenomegaly, Inguinal... ORPHA:955
Osteopathia Striata With Cranial Sclerosis
Low-set ears, Joint contracture of the hand, Multicystic kidney dysplasia, Conductive hearing imp... OMIM:300373
Cranioectodermal Dysplasia 2
Low-set ears, Polysplenia, Renal insufficiency, Splenomegaly, Inguinal hernia, Simple ear, Renal ... OMIM:613610
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Vesicoureteral reflux, Uterine prolapse, Nephrolithiasis, Hydronephrosis, Exaggerated startle res... ORPHA:438213
Cardiac Diverticulum
Aortic valve stenosis, Umbilical hernia, Congestive heart failure, Abnormal EKG, Palpitations, Mi... ORPHA:1686
Branchiooculofacial Syndrome
Low-set ears, Hypospadias, Atypical scarring of skin, Conductive hearing impairment, Hearing impa... OMIM:113620
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal hypoplasia, Stahl ear, Chorioretinal coloboma, Umbilical hern... OMIM:107480
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Hearing impairment, Umbilical hernia, Camptodactyly of finger, Low-... ORPHA:1507
Jacobsen Syndrome
Aortic valve stenosis, Aplasia/Hypoplasia of the earlobes, Multicystic kidney dysplasia, Low-set,... ORPHA:2308
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Multicystic kidney dysplasia, Hearing impairment, Low-set, posteriorly rota... ORPHA:1052
Cerebrocostomandibular Syndrome
Low-set ears, Conductive hearing impairment, Elbow flexion contracture, Horseshoe kidney, Renal c... OMIM:117650
Distal Deletion 15Q
Low-set ears, Multicystic kidney dysplasia, Hearing impairment, Congenital diaphragmatic hernia, ... ORPHA:1596
Peters Plus Syndrome
Optic atrophy, Multicystic kidney dysplasia, Microtia, second degree, Conductive hearing impairme... ORPHA:709
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Low-set ears, Renal cyst, Hypospadias, Optic nerve hypoplasia ORPHA:495875
Robinow Syndrome
Low-set ears, Webbed penis, Multicystic kidney dysplasia, Umbilical hernia, Hydronephrosis, Micro... ORPHA:97360
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Low-set ears, Hypospadias, Enuresis, Renal agenesis, Grade III vesicoureteral reflux, Ureteropelv... OMIM:619522
Townes-Brocks Syndrome
Hypospadias, Renal hypoplasia, Hearing impairment, Chorioretinal coloboma, Renal insufficiency, V... ORPHA:857
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Hearing impairment, Polysplenia, Umbilical hernia, Cardiomyopathy, Duplication of re... OMIM:312870
Mowat-Wilson Syndrome
Aortic valve stenosis, Multicystic kidney dysplasia, Recurrent otitis media, Sensorineural hearin... ORPHA:2152
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, EEG with generalized slow activity OMIM:618367
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Conductive hearing impairment, Atresia of the external auditory canal ORPHA:1393
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Multicystic kidney dysplasia, Recurrent otitis media, Sensorineural hearin... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Multicystic kidney dysplasia, Hyphema, Recurrent otitis media, Sensorineur... ORPHA:261552
C Syndrome
Hypoplasia of the ear cartilage, Multicystic kidney dysplasia, Low-set, posteriorly rotated ears,... ORPHA:1308
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypospadias, Multicystic kidney dysplasia, Unilateral renal agenesis, Hearing impairment, Renal a... OMIM:308205
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Conductive hearing impairment, Atresia of the external auditory can... ORPHA:199
Pmm2-Cdg
Hypertrophic cardiomyopathy, Multiple joint contractures, Photoreceptor layer loss on macular OCT... ORPHA:79318
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Hydronephrosis, Renal cyst, Omphalocele, Hypoplasia of penis, Urethrovaginal fi... ORPHA:93271
Pallister-Killian Syndrome
Aortic valve stenosis, Low-set ears, Hypospadias, Camptodactyly of 2nd-5th fingers, Hearing impai... OMIM:601803
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hearing impairment, Knee flexion contracture, Hip contracture, Hydr... OMIM:606170
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Duplicated tragus, Conductive hearing impairment, Atresia of the ex... OMIM:164210

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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