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Gene: Faim2 MGI:1919643

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Registered for phenotyping at IMPC

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

Gene Summary

Name:
Fas apoptotic inhibitory molecule 2
Synonyms:
NMP25,  Tmbim2,  2900002L20Rik,  Lfg,  lifeguard

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Faim2 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 Faim2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... OMIM:619902
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Macdermot-Winter Syndrome
Seizure, Hydronephrosis OMIM:247990
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... ORPHA:85445
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter, Myoclonus, Myoclonic seizure OMIM:618240
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Wolfram Syndrome, Mitochondrial Form
Seizure, Hydroureter, Hydronephrosis OMIM:598500
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Seizure, Myoclonus, Macroscopic hematuria,... ORPHA:251004
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal insufficiency, Renal hypoplasia OMIM:615996
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Seizure, Hydronephrosis, Infantile spasms OMIM:619797
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Hydronephrosis ORPHA:85285
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic... OMIM:608836
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Seizure, Hydronephrosis, Eyelid myoclonus OMIM:618060
Congenital Myopathy 19
Renal atrophy, Hydronephrosis OMIM:618578
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney OMIM:608022
Endove Syndrome, Limb-Brain Type
Recurrent urinary tract infections, Neurogenic bladder, Focal tonic seizure, Hydronephrosis OMIM:619218
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... ORPHA:3467
Fanconi Anemia, Complementation Group O
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst OMIM:613390
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Generalized-onset seizure, Hydronephrosis OMIM:618265
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ... OMIM:617303
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Seizure, Renal hypoplasia, Hydronephrosis OMIM:613735
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Enlarged kidney, ... OMIM:232200
Prune Belly Syndrome
Hydroureter, Congenital posterior urethral valve, Hydronephrosis OMIM:100100
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Enl... OMIM:232220
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Seizure, Bilateral tonic-clonic seizure, Hydronephrosis, Focal impaired awareness seizure ORPHA:488613
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Seizure, Hydronephrosis OMIM:300048
Tetraploidy
Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Splenomegaly, Stage 5 chronic kidney disease, Ureteral atresia... OMIM:208540
Distal Duplication 6P
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia ORPHA:1745
Williams-Beuren Region Duplication Syndrome
Seizure, Hydronephrosis, Unilateral renal agenesis OMIM:609757
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis OMIM:619362
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis OMIM:619431
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Recombinant Chromosome 8 Syndrome
Seizure, Hydronephrosis OMIM:179613
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Seizure, Hypoplasia of penis, Hydronephrosis ORPHA:2083
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Wolfram Syndrome 1
Seizure, Neurogenic bladder, Hydroureter, Hydronephrosis OMIM:222300
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Seizure, Renal hypoplasia, Unilateral renal agenesis OMIM:618494
Tyrosinemia, Type I
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... OMIM:276700
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis OMIM:619217
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... OMIM:130650
9Q21.13 Microdeletion Syndrome
Seizure, Hydronephrosis ORPHA:531151
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
22Q11.2 Duplication Syndrome
Seizure, Urethral stenosis, Displacement of the urethral meatus, Hydronephrosis ORPHA:1727
X-Linked Intellectual Disability Due To Gria3 Mutations
Bilateral tonic-clonic seizure, Seizure, Status epilepticus, Myoclonus, Micropenis, Hydronephrosis ORPHA:364028
Netherton Syndrome
Seizure, Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Kaposiform Lymphangiomatosis
Splenomegaly, Multiple renal cysts, Enlarged kidney, Hepatosplenomegaly ORPHA:464329
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis OMIM:620141
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Joubert Syndrome 37
Hepatomegaly, Micropenis, Hydronephrosis OMIM:619185
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... ORPHA:449395
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Tetrasomy 15Q26
Hydronephrosis, Horseshoe kidney OMIM:614846
Trisomy 13
Abnormality of the ureter, Seizure, Multiple renal cysts, Displacement of the urethral meatus, Hy... ORPHA:3378
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis OMIM:618188
H Syndrome
Micropenis, Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly ORPHA:168569
Kury-Isidor Syndrome
Seizure, Hydronephrosis OMIM:619762
Suleiman-El-Hattab Syndrome
Seizure, Hydronephrosis OMIM:618950
Endocrine-Cerebroosteodysplasia
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney OMIM:612651
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... ORPHA:79403
Diabetic Embryopathy
Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:1926
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Alg9-Cdg
Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Seizure, Abnormal renal artery morp... ORPHA:79328
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr... ORPHA:505248
Webb-Dattani Syndrome
Neurogenic bladder, Bilateral tonic-clonic seizure, Hyposthenuria, Vesicoureteral reflux, Hydrone... OMIM:615926
Microcephaly 26, Primary, Autosomal Dominant
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Hydronephrosis OMIM:619179
Glycogen Storage Disease Of Heart, Lethal Congenital
Seizure, Enlarged kidney, Cardiomegaly OMIM:261740
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Proteinuria, Stage 5 chronic kidney disease, Hypoglycemic seizures, Nephrolithiasis... ORPHA:79259
Zaki Syndrome
Seizure, Renal agenesis, Hydronephrosis OMIM:619648
Ritscher-Schinzel Syndrome 1
Hypospadias, Hydronephrosis OMIM:220210
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis, Myoclonic seizure OMIM:620327
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hepatomegaly, Hypospadias, Seizure, Vesicoureteral reflux, Micropen... OMIM:301056
Intellectual Developmental Disorder, Autosomal Dominant 42
Ureteropelvic junction obstruction, Neurogenic bladder, Bilateral tonic-clonic seizure, Infantile... OMIM:616973
Distal Triplication 15Q
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy... ORPHA:314588
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... ORPHA:158684
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Seizure, Aminoaciduria, Renal artery stenosis, ... OMIM:617913
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis ORPHA:261290
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hypospadias, Hydronephrosis, Cardiomegaly OMIM:616897
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Polycystic kidney dysplasia, Ves... ORPHA:2237
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Seizure, Hydronephrosis, Hepatosplenomegaly ORPHA:541423
Intellectual Developmental Disorder, Autosomal Dominant 53
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Micropenis, Febrile seiz... OMIM:617798
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Oliguria, Stage 5 chronic ... ORPHA:731
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Seizure, Hydronephrosis ORPHA:912
Micro Syndrome
Seizure, Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney ORPHA:2510
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila... ORPHA:49041
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Encephalocraniocutaneous Lipomatosis
Seizure, Pelvic kidney, Hydronephrosis OMIM:613001
Meacham Syndrome
Enlarged kidney, Horseshoe kidney OMIM:608978
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney ORPHA:500095
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Seizure, Hydronephrosis ORPHA:568
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Enlarged kidney OMIM:252500
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Seizure, Hydronephrosis ORPHA:457193
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Seizure, Vesicoureteral reflux, Hydronephrosis, Renal duplication ORPHA:96169
Pfeiffer Syndrome Type 3
Vesicoureteral reflux, Seizure, Hydronephrosis, Horseshoe kidney ORPHA:93260
Czeizel-Losonci Syndrome
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis ORPHA:2437
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Penile Agenesis
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... ORPHA:49
Igg4-Related Aortitis
Hydronephrosis ORPHA:449400
Trisomy 1Q
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis ORPHA:261344
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Tonic seizure, Typical absence seizure, Enuresis nocturna, Se... OMIM:615873
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Seizure, Vesicoureteral reflux... ORPHA:261494
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Seizure, Hydronephrosis OMIM:617093
Basel-Vanagaite-Smirin-Yosef Syndrome
Seizure, Hypospadias, Hydronephrosis OMIM:616449
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ... ORPHA:116
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
46,Xy Sex Reversal 4
Renal dysplasia, Ureteropelvic junction obstruction, Hydronephrosis OMIM:154230
Genitopatellar Syndrome
Seizure, Multicystic kidney dysplasia, Hydronephrosis ORPHA:85201
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Seizure, Vesic... OMIM:614080
Leprechaunism
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney ORPHA:508
Intellectual Disability, Buenos-Aires Type
Hydronephrosis ORPHA:3079
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis, Seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:247262
Duane-Radial Ray Syndrome
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... OMIM:607323
Ogden Syndrome
Global glomerulosclerosis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cardiomegal... OMIM:300855
Tarp Syndrome
Seizure, Hydronephrosis, Horseshoe kidney OMIM:311900
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... OMIM:146510
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Left ventricular hypertrophy, Hydron... OMIM:611209
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney, Enlarged kidney OMIM:306955
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... ORPHA:2473
Noonan Syndrome 4
Ureteral duplication, Hydronephrosis OMIM:610733
3C Syndrome
Hypoplasia of penis, Hypospadias, Hydronephrosis ORPHA:7
Trisomy 20P
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... ORPHA:261318
Johanson-Blizzard Syndrome
Hypoplasia of penis, Hypospadias, Hydronephrosis ORPHA:2315
Melnick-Needles Syndrome
Vesicoureteral reflux, Hydronephrosis ORPHA:2484
Al-Gazali Syndrome
Hydronephrosis OMIM:609465
Takenouchi-Kosaki Syndrome
Seizure, Hypospadias, Hydronephrosis, Unilateral renal agenesis OMIM:616737
Chromosome 2P16.1-P15 Deletion Syndrome
Micropenis, Hydronephrosis OMIM:612513
15Q Overgrowth Syndrome
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Seizure, Nephroblastoma, Hy... ORPHA:314585
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Seizure, Vesicoureteral reflux, Hydronephrosis ORPHA:2059
Microphthalmia, Syndromic 9
Renal malrotation, Renal hypoplasia, Horseshoe kidney, Pelvic kidney, Hydronephrosis OMIM:601186
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Neurogenic bladder, Splenomegaly, Seizure, Hydronephrosis OMIM:608779
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... ORPHA:391641
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
8P Inverted Duplication/Deletion Syndrome
Seizure, Micropenis, Abnormality of the urinary system, Hydronephrosis ORPHA:96092
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Bilateral tonic-clonic seizure, Hypospadias, Renal agenesis, Seizure, Micropenis, Hydronephrosis OMIM:301040
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Horseshoe kidney, Seizure, Vesicoureteral reflux, Hydronephrosis OMIM:235510
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Abnormal renal morphology, Hepatosplenomegaly, Micropenis, Hydronephr... ORPHA:1655
Visceral Myopathy 1
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis OMIM:155310
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Hepatomegaly, Micropenis, Hydronephrosis OMIM:235255
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Hypospadias, Seizure, Aminoaciduria, Albuminuria, Renal cortical microcysts, Hydron... OMIM:214100
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Hydronephrosis OMIM:104350
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Simple febrile seizure, Unilateral renal agenesis, Renal cyst, Seizure, Micropenis, ... ORPHA:464311
Congenital Myopathy 17
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia OMIM:618975
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Renal cyst, Seizure, Microphallus, Vesicoureteral reflux, Hydronephrosis OMIM:618454
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Horseshoe kidney, Multiple renal cysts, Hydronephrosis ORPHA:99776
Carey-Fineman-Ziter Syndrome
Hydronephrosis, Glandular hypospadias ORPHA:1358
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hydronephrosis, Seizure, Renal dysplasia OMIM:300968
Carpenter Syndrome 1
Hydroureter, Hydronephrosis OMIM:201000
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Seizure, Hydr... ORPHA:847
Baraitser-Winter Cerebrofrontofacial Syndrome
Seizure, Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:2995
Baller-Gerold Syndrome
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney ORPHA:1225
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia OMIM:236700
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis OMIM:618460
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis ORPHA:35173
Musculocontractural Ehlers-Danlos Syndrome
Nephrolithiasis, Functional abnormality of the bladder, Hydronephrosis, Horseshoe kidney ORPHA:2953
1Q21.1 Microdeletion Syndrome
Vesicoureteral reflux, Seizure, Hydronephrosis ORPHA:250989
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Vesicoureteral reflux, Crossed fused renal ectopia, Pelvi... OMIM:300707
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Seizure, Febrile seizure (within ... ORPHA:464306
Koolen-De Vries Syndrome
Vesicoureteral reflux, Seizure, Recurrent urinary tract infections, Hydronephrosis OMIM:610443
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... ORPHA:2322
Cat Eye Syndrome
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney OMIM:115470
Stromme Syndrome
Bilateral renal hypoplasia, Hydronephrosis OMIM:243605
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Pelvis-Shoulder Dysplasia
Hydronephrosis ORPHA:2839
Basel-Vanagaite-Smirin-Yosef Syndrome
Seizure, Male urethral meatus stenosis, Hydronephrosis, Hypospadias ORPHA:464738
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:261349
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Hydronephrosis, Cardiomegaly OMIM:614921
Cardiac-Urogenital Syndrome
Enlarged kidney, Micropenis, Penoscrotal hypospadias, Patent urachus OMIM:618280
Cockayne Syndrome Type 3
Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Sp... ORPHA:90324
Thakker-Donnai Syndrome
Hydronephrosis ORPHA:1780
Teebi-Shaltout Syndrome
Ureteral stenosis, Hydronephrosis, Horseshoe kidney OMIM:272950
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... OMIM:258040
Mosaic Trisomy 8
Vesicoureteral reflux, Hydronephrosis ORPHA:96061
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Nephroblastoma,... OMIM:312870
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Vesicoureteral reflux, Seizure, Abnormal bladder morphology, Hydronephrosis ORPHA:453499
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Hypertrophy of the urinary bladder, Unilateral renal dysplasia, Seizure, Congenital ... ORPHA:280633
Cardiofaciocutaneous Syndrome 1
Splenomegaly, Seizure, Hydronephrosis OMIM:115150
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria ORPHA:101000
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis OMIM:302960
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia ORPHA:2092
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis ORPHA:254528
Tarp Syndrome
Seizure, Hydronephrosis, Horseshoe kidney ORPHA:2886
Campomelic Dysplasia
Hydronephrosis ORPHA:140
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis OMIM:618653
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Hydronephrosis OMIM:617557
7Q11.23 Microduplication Syndrome
Hypospadias, Unilateral renal agenesis, Seizure, Enuresis, Hydronephrosis ORPHA:96121
Congenital Alveolar Capillary Dysplasia
Hydronephrosis ORPHA:210122
Frontometaphyseal Dysplasia 1
Hydroureter, Hydronephrosis OMIM:305620
Trisomy 8P
Fetal pyelectasis, Nephrocalcinosis, Seizure, Micropenis, Hydronephrosis ORPHA:264450
Distal Deletion 12Q
Ectopic kidney, Congenital hypertrophy of left ventricle, Polycystic kidney dysplasia, Vesicouret... ORPHA:96149
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... OMIM:604292
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Hydronephrosis OMIM:271520
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis OMIM:619269
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Hepatomegaly, Bilateral tonic-clonic seizure, Myoclonic seizure, Se... OMIM:280000
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Hematuria, Seizure, Hydronep... ORPHA:900
Otopalatodigital Syndrome Type 2
Hydronephrosis, Hypospadias, Ureteral obstruction ORPHA:90652
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hepatomegaly, Hypospadia... ORPHA:373
Knobloch Syndrome 1
Duplicated collecting system, Myoclonic seizure, Seizure, Bifid ureter, Hydronephrosis, Renal dup... OMIM:267750
Erdheim-Chester Disease
Hydronephrosis, Renal insufficiency, Dysuria ORPHA:35687
Au-Kline Syndrome
Vesicoureteral reflux, Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis OMIM:616580
Occipital Horn Syndrome
Hydronephrosis, Seizure, Bladder diverticulum, Ureteral obstruction OMIM:304150
Dubowitz Syndrome
Seizure, Hypospadias, Hydronephrosis ORPHA:235
Cerebellar-Facial-Dental Syndrome
Ureteropelvic junction obstruction, Hydronephrosis ORPHA:444072
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Seizure, Hypospadias, Hydronephrosis, Unilateral renal agenesis ORPHA:487796
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Hypospadias, Hydroureter, Seizure, Micropenis, Hydronephrosis OMIM:269150
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Recurrent urinary tract infections, Splenomegaly, Urachus fistula, Hepatosplenomega... OMIM:612541
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Seizure, Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:615287
White-Kernohan Syndrome
Hydroureter, Hydronephrosis, Horseshoe kidney OMIM:619426
Chime Syndrome
Hydronephrosis, Seizure, Abnormality of the kidney ORPHA:3474
Fryns Syndrome
Ureteral duplication, Hypospadias, Renal agenesis, Renal cyst, Seizure, Hydronephrosis OMIM:229850
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Hepatomegaly, Duplicated collecting system, Hypospadias, Rena... OMIM:270400
Cardiofaciocutaneous Syndrome
Hydronephrosis ORPHA:1340
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent urinary tract infections, Generalized-onset seizure, Hypospadias, Focal hemiclonic seiz... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent urinary tract infections, Generalized-onset seizure, Hypospadias, Focal hemiclonic seiz... ORPHA:363958
Raine Syndrome
Hydroureter, Hydronephrosis OMIM:259775
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Seizure, Hydronephrosis ORPHA:2750
Eec Syndrome
Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hydronephrosis ORPHA:1896
Opitz Gbbb Syndrome
Enlarged ovaries, Hypospadias, Abnormality of the urinary system, Vesicoureteral reflux, Hydronep... ORPHA:2745
Cousin Syndrome
Hydronephrosis OMIM:260660
Trisomy 18
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:3380
Craniofacioskeletal Syndrome
Hypospadias, Hydronephrosis OMIM:300712
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Epileptic spasm, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, ... ORPHA:2636
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorma... ORPHA:818
Robinow Syndrome, Autosomal Recessive 1
Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication OMIM:268310
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... ORPHA:2044
Monosomy 22Q13.3
Hydronephrosis, Seizure, Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia ORPHA:48652
Vater/Vacterl Association
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl... OMIM:192350
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hydronephrosis, Unilateral renal agenesis OMIM:308050
Schinzel-Giedion Syndrome
Epileptic spasm, Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis,... ORPHA:798
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Bladder diverticulum, ... OMIM:129900
Cutis Laxa, Autosomal Recessive, Type Ic
Hydronephrosis, Multiple bladder diverticula, Right ventricular hypertrophy OMIM:613177
Hardikar Syndrome
Hepatomegaly, Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections,... OMIM:301068
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Proximal renal tubular acidosis, Nephrolithiasis, Renal tubular acidosis, Distal re... ORPHA:2785
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Vesicoureteral reflux, Seizure, Typical absence seizure, Hydronephrosis ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Vesicoureteral reflux, Seizure, Typical absence seizure, Hydronephrosis ORPHA:352665
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Micropenis, Hypospadias, Hydronephrosis ORPHA:163979
Apert Syndrome
Hydronephrosis OMIM:101200
Jacobsen Syndrome
Seizure, Multicystic kidney dysplasia, Hydronephrosis ORPHA:2308
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:1507
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Hydronephrosis OMIM:251260
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r... OMIM:619522
3Mc Syndrome 1
Hydronephrosis OMIM:257920
Ileal Neuroendocrine Tumor
Hydronephrosis ORPHA:100078
Frontometaphyseal Dysplasia
Hydronephrosis, Urethral stenosis, Ureteral obstruction ORPHA:1826
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... ORPHA:573278
Robinow Syndrome
Webbed penis, Micropenis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:97360
Melnick-Needles Syndrome
Ureteral stenosis, Hydronephrosis OMIM:309350
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Seizure, Multiple renal cy... ORPHA:3310
Kabuki Syndrome 1
Crossed fused renal ectopia, Bilateral tonic-clonic seizure with focal onset, Micropenis, Seizure... OMIM:147920
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Nephrolithiasis, Seizure, Myoclonus, Vesicoureteral reflux, Bilateral tonic-clon... ORPHA:438213
Arboleda-Tham Syndrome
Seizure, Recurrent urinary tract infections, Hydronephrosis OMIM:616268
Cardiac Valvular Dysplasia 1
Urethral diverticulum, Hydroureter, Hydronephrosis OMIM:212093
Mesomelia-Synostoses Syndrome
Hydronephrosis OMIM:600383
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Hypospadias, Nephrolithiasis, Seizure, Abnormality of the uri... ORPHA:353281
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Hydronephros... OMIM:265380
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Renal cyst, Seizure, Hydronephrosis ORPHA:1606
Okamoto Syndrome
Urinary incontinence, Splenomegaly, Unilateral renal hypoplasia, Ureteropelvic junction obstructi... ORPHA:2729
Lacrimoauriculodentodigital Syndrome
Vesicoureteral reflux, Seizure, Renal hypoplasia, Hydronephrosis ORPHA:2363
Campomelic Dysplasia
Seizure, Hypospadias, Hydronephrosis OMIM:114290
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Bilateral tonic-clonic seizure, Nephrocalcinos... ORPHA:79500
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Febri... OMIM:620330
Coffin-Siris Syndrome 1
Hydroureter, Hypospadias, Ectopic kidney, Renal hypoplasia, Seizure, Hydronephrosis OMIM:135900
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Seizure, Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:363700
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Bilateral tonic-clonic seizure, Hypospadias, Abnormali... ORPHA:821
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethral valve, Hydron... OMIM:136140
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Seizure, Hydronep... ORPHA:2273
Rubinstein-Taybi Syndrome 1
Seizure, Hypospadias, Hydronephrosis OMIM:180849
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Nephrotic syndrome, Hydronephrosis OMIM:601776
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Micropenis, Hydronephrosis ORPHA:83617
Charge Syndrome
Vesicoureteral reflux, Micropenis, Hydronephrosis, Horseshoe kidney ORPHA:138
Digeorge Syndrome
Renal insufficiency, Unilateral renal agenesis, Splenomegaly, Hydronephrosis, Seizure, Renal dysp... OMIM:188400
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis ORPHA:93271
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Nephrolithiasis, Seiz... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Nephrolithiasis, Seiz... ORPHA:353277
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Hydronephrosis ORPHA:506358
Osteogenesis Imperfecta, Type Vii
Hydronephrosis OMIM:610682
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydron... ORPHA:709
Robinow Syndrome, Autosomal Dominant 1
Micropenis, Hydronephrosis, Renal duplication OMIM:180700
Liver Disease, Severe Congenital
Hepatomegaly, Recurrent urinary tract infections, Hypospadias, Cardiomegaly, Splenomegaly, Aminoa... OMIM:619991
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Hepatomegaly, Renal insufficiency, Splenomegaly, Dilatation of the renal pelvis, Stag... OMIM:619534
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Hypospadias, Wide penis, Seizure, Vesicoureteral reflux, Dila... ORPHA:3455
Focal Dermal Hypoplasia
Ureteral duplication, Bifid ureter, Hydronephrosis, Horseshoe kidney OMIM:305600
Peters-Plus Syndrome
Ureteral duplication, Hypospadias, Renal hypoplasia, Seizure, Hydronephrosis OMIM:261540
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hydronephrosis, Seizure, Renal dysplasia ORPHA:480880
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Focal... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Focal-onset seizure, Seizure, Ch... ORPHA:261537
Hydrolethalus Syndrome 1
Hypospadias, Hydronephrosis OMIM:236680
Charge Syndrome
Renal agenesis, Renal hypoplasia, Horseshoe kidney, Micropenis, Hydronephrosis OMIM:214800
Genitopatellar Syndrome
Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:606170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Focal-onset seizure, Seizure, Du... ORPHA:261552
Otopalatodigital Syndrome, Type Ii
Hypospadias, Hydronephrosis OMIM:304120
Johanson-Blizzard Syndrome
Hepatomegaly, Hypospadias, Urethrovaginal fistula, Splenomegaly, Micropenis, Hydronephrosis OMIM:243800
Viss Syndrome
Hydronephrosis, Right ventricular hypertrophy OMIM:619472

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 Faim2

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 Faim2.

No publications found that use IMPC mice or data for Faim2.

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MGI Allele Allele Type Produced
Faim2em1(IMPC)Ccpcz Exon Deletion Mice
Faim2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Faim2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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