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Gene: Acot3 MGI:2159619

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Gene Summary

Name:
acyl-CoA thioesterase 3
Synonyms:
Pte2a,  PTE-Ia

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 kidney morphology Acot3em1(IMPC)Mbp HOM Early adult 0.00
decreased exploration in new environment Acot3em1(IMPC)Mbp HOM Early adult 5.46×10-08
abnormal eye morphology Acot3em1(IMPC)Mbp HOM Early adult 0.00
decreased freezing behavior Acot3em1(IMPC)Mbp HOM Early adult 7.84×10-06
microphthalmia Acot3em1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Acot3em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

41 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Human diseases caused by Acot3 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 Acot3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... ORPHA:66624
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Hepatomegaly... OMIM:613496
Nephronophthisis 3
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, R... OMIM:604387
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Anophthalmia, Microphthalmia, Polycystic kidney dysplasia, Enlarged kidney OMIM:613885
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Renal... OMIM:619902
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney OMIM:615285
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Gombo Syndrome
Microphthalmia OMIM:233270
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... ORPHA:85445
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microphthalmia ORPHA:2432
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Dihydropyrimidine Dehydrogenase Deficiency
Uraciluria, Hyperactivity, Elevated urinary dihydrothymine level, Microphthalmia OMIM:274270
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Nanophthalmos
Microphthalmia ORPHA:35612
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Microphthalmia, Renal hypoplasia/aplasia ORPHA:195
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... OMIM:263200
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Microphthalmia OMIM:120433
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Paternal Uniparental Disomy Of Chromosome 1
Progressive psychomotor deterioration, Proteinuria, Polyphagia, Membranoproliferative glomerulone... ORPHA:251004
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Cystic renal dysplasia, Microphthalmia OMIM:613730
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Attention ... OMIM:617914
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Abnormality of the upper urinary tract, Microphthalmia, Hypoplasia of penis, Abnorma... ORPHA:2547
Biemond Syndrome Type 2
Hypospadias, Microphthalmia ORPHA:141333
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia OMIM:608022
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Renal insufficiency, Hydronephrosis, Cardiomegaly, Long-chain dicarboxylic acidu... OMIM:608836
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Cognitive impairment, Microphthalmia ORPHA:858
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic... OMIM:617303
Joubert Syndrome 22
Renal hypoplasia, Microphthalmia OMIM:615665
Mmep Syndrome
Microphthalmia ORPHA:3434
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Renal hypoplasia, Aggressive behavior, Microphthalmia, Lens coloboma, Mo... OMIM:618914
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney OMIM:314390
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia OMIM:615415
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Renal hypoplasia, Ketonuria, Microphthalmia OMIM:619053
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Bresek Syndrome
Renal hypoplasia, Hypoplasia of the bladder, Vesicoureteral reflux, Microphthalmia, Renal dysplas... ORPHA:85284
Developmental And Epileptic Encephalopathy 1
Micropenis, Dysphagia, Microphthalmia OMIM:308350
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Microphthalmia ORPHA:1473
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Seckel Syndrome 2
Hypospadias, Ectopic kidney, Microphthalmia OMIM:606744
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Renal-Hepatic-Pancreatic Dysplasia 1
Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, Ureteral atre... OMIM:208540
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Purple urine, Confusion, Increased urinary porphobili... ORPHA:100924
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... OMIM:232220
Cofs Syndrome
Microphthalmia ORPHA:1466
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Pierpont Syndrome
Micropenis, Microphthalmia OMIM:602342
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Trisomy 13
Abnormality of the ureter, Anophthalmia, Aplasia/Hypoplasia of the iris, Displacement of the uret... ORPHA:3378
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Matthew-Wood Syndrome
Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Anophthalmia, Microphthalmia ORPHA:2470
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Mild proteinuria, Microphthalmia OMIM:301108
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... ORPHA:449395
Tyrosinemia, Type I
Nephrocalcinosis, Elevated urinary succinylacetone level, Renal insufficiency, Splenomegaly, Rena... OMIM:276700
Meckel Syndrome, Type 5
Renal cyst, Microphthalmia OMIM:611561
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Polydipsia, Recurrent urinary tract infections, Hepatosplenomegaly... ORPHA:731
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Recurrent urinary tract infections, Bruxism, Irritability, Polyphagia, Attenti... OMIM:615873
Alg9-Cdg
Hypoplasia of the bladder, Abnormal renal artery morphology, Irritability, Hydronephrosis, Hepato... ORPHA:79328
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia OMIM:613091
Rere-Related Neurodevelopmental Syndrome
Self-injurious behavior, Vesicoureteral reflux, Attention deficit hyperactivity disorder, Dysphag... ORPHA:494344
Pierpont Syndrome
Microphthalmia ORPHA:487825
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Kaposiform Lymphangiomatosis
Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney ORPHA:464329
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Renal hypoplasia, Hydronephrosis, Microphthalmia, Dysphagia OMIM:618494
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Myoclonic-Astatic Epilepsy
Attention deficit hyperactivity disorder, Abnormal emotion, Hyperactivity, Microphthalmia ORPHA:1942
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Microphthalmia OMIM:602501
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas... OMIM:130650
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia OMIM:200995
17Q12 Microduplication Syndrome
Self-injurious behavior, Microphthalmia ORPHA:261272
H Syndrome
Micropenis, Hepatosplenomegaly, Enlarged kidney, Abnormality of the kidney ORPHA:168569
Endocrine-Cerebroosteodysplasia
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys OMIM:612651
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heav... ORPHA:505248
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Stage 5 chronic kidney disease, Nephrolithiasis, Proteinuria, Tubulointerstitia... ORPHA:79259
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Aggressive behavior, Attention deficit hyperactivity disorder, Agitation, Microphthalmia OMIM:152950
Hyperparathyroidism, Transient Neonatal
Unilateral renal agenesis, Enlarged kidney OMIM:618188
Joubert Syndrome 37
Hydronephrosis, Hepatomegaly, Micropenis, Microphthalmia OMIM:619185
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Microphthalmia-Brain Atrophy Syndrome
Tongue thrusting, Bilateral microphthalmos ORPHA:77299
Fanconi Anemia, Complementation Group I
Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Abnormal renal morphology, Microphthal... OMIM:609053
Congenital Rubella Syndrome
Hepatomegaly, Aplasia/Hypoplasia of the iris, Splenomegaly, Microphthalmia ORPHA:290
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxyisobutyric acid level, Elevated urinary 3-hydroxybutyric acid, Methylma... OMIM:614105
3Q29 Microdeletion Syndrome
Depression, Horseshoe kidney, Aggressive behavior, Attention deficit hyperactivity disorder, Micr... ORPHA:65286
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Microphthalmia OMIM:618805
Mucolipidosis Ii Alpha/Beta
Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Enlarged kidney OMIM:252500
Norrie Disease
Hypoplasia of the iris, Aggressive behavior, Microphthalmia, Dementia, Buphthalmos OMIM:310600
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Temtamy Syndrome
Microphthalmia ORPHA:1777
Ring Chromosome 10 Syndrome
Microphthalmia, Renal hypoplasia/aplasia ORPHA:1438
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Ogden Syndrome
Irritability, Cardiomegaly, Motor stereotypy, Global glomerulosclerosis, Dysphagia, Polycystic ki... OMIM:300855
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Joubert Syndrome 14
Microphthalmia, Renal cyst, Irritability OMIM:614424
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Cerebrooculofacioskeletal Syndrome 2
Micropenis, Microphthalmia OMIM:610756
Lissencephaly 8
Microphthalmia OMIM:617255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia OMIM:613153
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Meckel Syndrome, Type 2
Renal cyst, Microphthalmia OMIM:603194
Cerebrooculofacioskeletal Syndrome 1
Progressive neurologic deterioration, Microphthalmia OMIM:214150
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Nephroblastoma ORPHA:276280
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Horseshoe kidney, Nephroblastoma, Ectopic kidney, Microphthalmia, Pelv... OMIM:610832
Fanconi Anemia, Complementation Group R
Pelvic kidney, Microphthalmia OMIM:617244
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Unilateral microphthalmos, Splenomegaly OMIM:615085
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Microphthalmia OMIM:618652
Moebius Syndrome
Micropenis, Dysphagia, Microphthalmia OMIM:157900
Beckwith-Wiedemann Syndrome
Nephropathy, Visceromegaly, Vesicoureteral reflux, Splenomegaly, Nephroblastoma, Nephrolithiasis,... ORPHA:116
Microphthalmia, Syndromic 5
Micropenis, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Renal malrotation, Enlarged kidney ORPHA:500095
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Microphthalmia, Lenz Type
Self-injurious behavior, Hydroureter, Renal hypoplasia/aplasia, Hydronephrosis, Microphthalmia, H... ORPHA:568
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Overfriendliness, Aggressive behavior, Hyperactivity, Restlessness, Agi... ORPHA:369891
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Anophthalmia, Microphthalmia ORPHA:77298
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney OMIM:261740
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Temtamy Syndrome
Self-mutilation, Microphthalmia OMIM:218340
Congenital Fibrinogen Deficiency
Micropenis, Left ventricular hypertrophy, Right ventricular hypertrophy, Microphthalmia ORPHA:335
Microphthalmia/Coloboma 12
Optic nerve aplasia, Vesicoureteral reflux, Microphthalmia OMIM:120200
Meckel Syndrome, Type 4
Renal cyst, Microphthalmia OMIM:611134
Meacham Syndrome
Horseshoe kidney, Enlarged kidney OMIM:608978
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Microphthalmia OMIM:601794
Congenital Disorder Of Glycosylation, Type Iq
Dysphagia, Microphthalmia OMIM:612379
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Compulsive behaviors, Attention deficit hyperactivity disorder, Microphthalmia ORPHA:404440
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Congenital Primary Aphakia
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... ORPHA:83461
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Heterotaxy, Visceral, 1, X-Linked
Renal agenesis, Horseshoe kidney, Cardiomegaly, Hepatomegaly, Enlarged kidney OMIM:306955
Marden-Walker Syndrome
Micropenis, Renal hypoplasia, Hypospadias, Microphthalmia OMIM:248700
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... OMIM:617666
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Compulsive behaviors, Aggressive behavior, Attention deficit hyperactivity disorder, Microphthalmia OMIM:620098
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... ORPHA:2334
Duane-Radial Ray Syndrome
Renal hypoplasia, Renal agenesis, Optic disc hypoplasia, Horseshoe kidney, Crossed fused renal ec... OMIM:607323
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Oligosacchariduria, Microphthalmia ORPHA:163649
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Leprechaunism
Nephrocalcinosis, Long penis, Hypercalciuria, Enlarged ovaries, Hepatomegaly, Enlarged kidney ORPHA:508
1Q21.1 Microdeletion Syndrome
Depression, Vesicoureteral reflux, Hydronephrosis, Attention deficit hyperactivity disorder, Micr... ORPHA:250989
Baraitser-Winter Syndrome 1
Micropenis, Microphthalmia OMIM:243310
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Encephalocraniocutaneous Lipomatosis
Hydronephrosis, Hypoplasia of the iris, Pelvic kidney, Microphthalmia OMIM:613001
Fanconi Anemia, Complementation Group A
Renal agenesis, Horseshoe kidney, Abnormal renal morphology, Microphthalmia, Duplicated collectin... OMIM:227650
Gracile Bone Dysplasia
Micropenis, Aniridia, Microphthalmia OMIM:602361
Refsum Disease
Renal insufficiency, Splenomegaly, Microphthalmia ORPHA:773
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Microphthalmia, Pelvic kidney OMIM:603467
3P25.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Microphthalmia ORPHA:435638
Micro Syndrome
Hydronephrosis, Abnormal localization of kidney, Hypoplasia of penis, Microphthalmia ORPHA:2510
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Renal agenesis, Horseshoe kidney, Renal duplication, Attention defi... OMIM:227646
Stevenson-Carey Syndrome
Microphthalmia, Recurrent urinary tract infections OMIM:611961
Fanconi Anemia, Complementation Group E
Renal agenesis, Horseshoe kidney, Microphthalmia, Duplicated collecting system, Ectopic kidney OMIM:600901
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia OMIM:610256
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Fetal Alcohol Syndrome
Cognitive impairment, Microphthalmia ORPHA:1915
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Multiple bladder diverticula, Microphthalmia ORPHA:2728
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Warburg Micro Syndrome 4
Micropenis, Microphthalmia OMIM:615663
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Aggressive behavior, Left ventricular hypertrophy, Hyperactivity, Micr... OMIM:619148
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Attention deficit hyperactivity disorder, Microphtha... OMIM:614083
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Septo-optic dysplasia, Microphthalmia ORPHA:3301
Monosomy 18P
Microphthalmia ORPHA:1598
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability, Nephrolithiasis OMIM:219090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia OMIM:615249
Kapur-Toriello Syndrome
Hypoplasia of penis, Microphthalmia ORPHA:2328
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Hypospadias, Microphthalmia OMIM:616449
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Pierson Syndrome
Hyperechogenic kidneys, Hypoplasia of the iris, Stage 5 chronic kidney disease, Rieger anomaly, P... OMIM:609049
Galloway-Mowat Syndrome 3
Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomerular sclerosis, M... OMIM:617729
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Anop... ORPHA:2538
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Warburg Micro Syndrome 3
Micropenis, Microphthalmia OMIM:614222
Mosaic Trisomy 9
Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Microphthalmia, Hypoplasia of penis, Rena... ORPHA:99776
Joubert Syndrome 2
Renal cyst, Nephronophthisis, Renal insufficiency, Microphthalmia OMIM:608091
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Hypoplasia of the iris, Horseshoe kidney, Renal hypoplasia/aplasia,... ORPHA:2092
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Renal insufficiency,... ORPHA:90324
Stromme Syndrome
Hydronephrosis, Optic nerve hypoplasia, Bilateral renal hypoplasia, Microphthalmia OMIM:243605
Pseudotrisomy 13 Syndrome
Micropenis, Renal hypoplasia, Renal agenesis, Microphthalmia OMIM:264480
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Walker-Warburg Syndrome
Hypoplasia of penis, Anophthalmia, Microphthalmia ORPHA:899
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral reflux, Rena... ORPHA:959
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis, Microphthalmia ORPHA:35173
Microphthalmia, Syndromic 9
Renal hypoplasia, Bilateral microphthalmos, Horseshoe kidney, Anophthalmia, Hydronephrosis, Pelvi... OMIM:601186
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Rodrigues Blindness
Microphthalmia OMIM:268320
Cat Eye Syndrome
Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Microphthalmia OMIM:115470
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micropenis, Microphthalmia OMIM:241410
Mosaic Trisomy 1
Renal cortical cysts, Penile hypospadias, Renal cyst, Microphthalmia, Micropenis ORPHA:1692
Basel-Vanagaite-Smirin-Yosef Syndrome
Male urethral meatus stenosis, Hydronephrosis, Aggressive behavior, Microphthalmia, Hypospadias ORPHA:464738
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Pallister-Hall Syndrome
Renal hypoplasia, Hydroureter, Distal urethral duplication, Hydronephrosis, Renal cyst, Microphth... OMIM:146510
Multiple Benign Circumferential Skin Creases On Limbs
Hypospadias, Microphthalmia ORPHA:2505
Fryns Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Microphthalmia, Hypospadias ORPHA:2059
Proteus Syndrome
Long penis, Splenomegaly, Enlarged polycystic ovaries, Renal cyst, Buphthalmos, Enlarged kidney ORPHA:744
Cardiac-Urogenital Syndrome
Micropenis, Patent urachus, Penoscrotal hypospadias, Enlarged kidney OMIM:618280
Fanconi Anemia, Complementation Group C
Renal agenesis, Horseshoe kidney, Microphthalmia, Duplicated collecting system, Ectopic kidney OMIM:227645
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Renal dysplasia, Microphthalmia OMIM:618571
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Right ventricular hypertrophy, Nephroblastoma, Splenomegaly, Hydrone... OMIM:312870
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Hypoplasia of the iris, Renal insufficiency, Proteinuria, Dif... OMIM:251300
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Otodental Syndrome
Lens coloboma, Microphthalmia ORPHA:2791
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Self-injurious behavior, Nephrocalcinosis, Depression, Oligosacchariduria, Renal i... ORPHA:534
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Kapur-Toriello Syndrome
Micropenis, Abnormality of the urinary system, Microphthalmia OMIM:244300
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Warburg Micro Syndrome 2
Micropenis, Microphthalmia OMIM:614225
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Teebi-Shaltout Syndrome
Horseshoe kidney, Hydronephrosis, Ureteral stenosis, Microphthalmia OMIM:272950
Garg-Mishra Progeroid Syndrome
Microphthalmia OMIM:620601
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Martsolf Syndrome 1
Micropenis, Microphthalmia OMIM:212720
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Renal hypoplasia, Renal agenesis, Horseshoe kidney, Motor stereotypy, Microphthalmia... ORPHA:508498
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Xeroderma Pigmentosum, Complementation Group D
Mental deterioration, Microphthalmia OMIM:278730
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis, Microphthalmia OMIM:302960
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Anophthalmia, Microphthalmia OMIM:615877
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Dubowitz Syndrome
Hypoplasia of the iris, Short attention span, Hyperactivity, Microphthalmia, Hypospadias OMIM:223370
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Meckel Syndrome 14
Polycystic kidney dysplasia, Microphthalmia OMIM:619879
Trisomy 18
Hydronephrosis, Abnormality of the upper urinary tract, Cognitive impairment, Microphthalmia ORPHA:3380
Vacterl With Hydrocephalus
Microphthalmia, Renal agenesis, Anophthalmia, Renal hypoplasia/aplasia ORPHA:3412
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal cyst, Renal hypoplasia, Microphthalmia OMIM:616300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Microphthalmia, Micropenis, Hypospadias, Optic nerve hypoplasia OMIM:206900
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Microphthalmia ORPHA:284160
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Chromosome 8Q21.11 Deletion Syndrome
Micropenis, Microphthalmia OMIM:614230
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system... ORPHA:468631
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Vesicoureteral reflux, Renal cyst, Attention deficit hyperactivity disorder, Microphthalmia, Hypo... OMIM:616975
Cockayne Syndrome
Mental deterioration, Renal hypoplasia, Unilateral renal agenesis, Renal insufficiency, Splenomeg... ORPHA:191
Holoprosencephaly-Postaxial Polydactyly Syndrome
Renal hypoplasia/aplasia, Microphthalmia, Abnormal localization of kidney, Hypospadias, Hypoplasi... ORPHA:2166
Mycophenolate Mofetil Embryopathy
Ectopic kidney, Microphthalmia ORPHA:268249
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Pelvis-Shoulder Dysplasia
Hydronephrosis, Bilateral microphthalmos ORPHA:2839
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormality of the urinary system, Abnormal fear-induced behavior, Recur... ORPHA:353281
Histiocytoid Cardiomyopathy
Microphthalmia, Cardiomegaly, Renal cyst, Congenital aphakia, Hepatomegaly ORPHA:137675
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Cognitive impairment, Microphthalmia ORPHA:1236
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Low-molecular-weight proteinuria, Stage 5 chronic kidney disease, Renal insufficie... OMIM:309000
Atelis Syndrome 2
Attention deficit hyperactivity disorder, Microphthalmia OMIM:620185
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, Microphthalmia ORPHA:2250
Incontinentia Pigmenti
Attention deficit hyperactivity disorder, Cognitive impairment, Microphthalmia ORPHA:464
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia ORPHA:91495
Holoprosencephaly
Abnormality of the urinary system, Anophthalmia, Proteinuria, Cognitive impairment, Microphthalmi... ORPHA:2162
Monosomy 9Q22.3
Hyperactivity, Nephroblastoma, Microphthalmia ORPHA:77301
Degcags Syndrome
Chronic kidney disease, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal hypoplasia, ... OMIM:619488
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Cousin Syndrome
Hydronephrosis, Microphthalmia OMIM:260660
Ohdo Syndrome, X-Linked
Micropenis, Microphthalmia OMIM:300895
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos, Hypospadias OMIM:618874
Meckel Syndrome
Multicystic kidney dysplasia, Anophthalmia, Aplasia/Hypoplasia of the iris, Urethral atresia, Mic... ORPHA:564
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Optic nerve hypoplasia, Renal dysplasia, Microphthalmia OMIM:236670
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Buphthalmos, Microphthalmia OMIM:221900
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Fanconi Anemia
Abnormality of the urinary system, Hydroureter, Recurrent urinary tract infections, Renal insuffi... ORPHA:84
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
22Q11.2 Deletion Syndrome
Renal hypoplasia, Depression, Vesicoureteral reflux, Splenomegaly, Attention deficit hyperactivit... ORPHA:567
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Charge Syndrome
Horseshoe kidney, Vesicoureteral reflux, Anophthalmia, Hydronephrosis, Attention deficit hyperact... ORPHA:138
Fryns Syndrome
Renal agenesis, Hydronephrosis, Renal cyst, Microphthalmia, Ureteral duplication, Hypospadias OMIM:229850
Hallermann-Streiff Syndrome
Hyperactivity, Microphthalmia OMIM:234100
Cohen Syndrome
Microphthalmia ORPHA:193
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Nephroblastoma, Microphthalmia ORPHA:1052
Cockayne Syndrome B
Hypoplasia of the iris, Renal insufficiency, Splenomegaly, Proteinuria, Hepatomegaly, Microphthal... OMIM:133540
Frontorhiny
Microphthalmia ORPHA:391474
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Jacobsen Syndrome
Macular hypoplasia, Hypospadias, Microphthalmia OMIM:147791
Linear Skin Defects With Multiple Congenital Anomalies 1
Micropenis, Chordee, Hypospadias, Microphthalmia OMIM:309801
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Oculoauricular Syndrome
Macular hypoplasia, Microphakia, Phthisis bulbi, Microphthalmia OMIM:612109
Steinfeld Syndrome
Unilateral renal dysplasia, Microphthalmia OMIM:184705
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Renal hypoplasia, Microphthalmia OMIM:620005
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Proboscis Lateralis
Unilateral renal agenesis, Duplication of renal pelvis, Ureteral agenesis, Anophthalmia, Micropht... ORPHA:141099
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Splenomegaly, Microphthalmi... OMIM:249000
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Horseshoe kidney, Micropenis, Hypospadias, Microphthalmia OMIM:609945
Bartsocas-Papas Syndrome 1
Micropenis, Ectopic kidney, Microphthalmia OMIM:263650
Mend Syndrome
Aggressive behavior, Hyperactivity, Microphthalmia ORPHA:401973
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Oculodentodigital Dysplasia
Neurogenic bladder, Microphthalmia OMIM:164200
Microphthalmia With Limb Anomalies
Horseshoe kidney, True anophthalmia, Microphthalmia ORPHA:1106
8Q24.3 Microdeletion Syndrome
Unilateral renal agenesis, Bilateral renal hypoplasia, Bilateral microphthalmos, Vesicoureteral r... ORPHA:508488
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:3186
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormality of the urinary system, Abnormal fear-induced behavior, Recur... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormality of the urinary system, Abnormal fear-induced behavior, Recur... ORPHA:353277
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Roberts Syndrome
Long penis, Polycystic kidney dysplasia, Microphthalmia ORPHA:3103
Bosma Arhinia Microphthalmia Syndrome
Micropenis, Hypospadias, Microphthalmia OMIM:603457
Monosomy 9P
Microphthalmia, Hypospadias, Ureteropelvic junction obstruction ORPHA:261112
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Microphthalmia OMIM:608940
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micropenis, Microphthalmia OMIM:617925
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Skin Creases, Congenital Symmetric Circumferential, 2
Hypospadias, Ureterocele, Microphthalmia OMIM:616734
Renpenning Syndrome 1
Renal hypoplasia, Hypospadias, Phimosis, Microphthalmia OMIM:309500
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Anophthalmia, Microphthalmia, Hypospadias, Epispadias ORPHA:2556
Tetraamelia Syndrome 1
Urethral atresia, Renal agenesis, Microphthalmia OMIM:273395
Traboulsi Syndrome
Homocystinuria, Microphthalmia OMIM:601552
Treacher-Collins Syndrome
Hypoplasia of penis, Microphthalmia ORPHA:861
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Townes-Brocks Syndrome
Renal hypoplasia, Renal insufficiency, Vesicoureteral reflux, Multiple renal cysts, Ectopic kidne... ORPHA:857
Charge Syndrome
Renal hypoplasia, Renal agenesis, Horseshoe kidney, Unilateral microphthalmos, Anophthalmia, Self... OMIM:214800
Norrie Disease
Self-injurious behavior, Hypoplasia of the iris, Irritability, Attention deficit hyperactivity di... ORPHA:649
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Basal Cell Nevus Syndrome 1
Microphthalmia OMIM:109400
Isolated Arrhinia
Microphthalmia ORPHA:1134
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Focal Dermal Hypoplasia
Horseshoe kidney, Bifid ureter, Aniridia, Anophthalmia, Hydronephrosis, Microphthalmia, Ureteral ... OMIM:305600
Yunis-Varon Syndrome
Bilateral microphthalmos, Renal artery stenosis, Cardiomegaly, Microphthalmia, Micropenis, Renova... ORPHA:3472
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Witteveen-Kolk Syndrome
Male urethral meatus stenosis, Microphallus, Phimosis, Aggressive behavior, Attention deficit hyp... OMIM:613406
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia ORPHA:2526
Fraser Syndrome
Abnormality of the urinary system, Anophthalmia, Renal hypoplasia/aplasia, Urethral atresia, Micr... ORPHA:2052
Microphthalmia, Syndromic 2
Phthisis bulbi, Hypospadias, Anophthalmia, Microphthalmia OMIM:300166
Trichothiodystrophy
Bilateral microphthalmos ORPHA:33364
Holoprosencephaly 9
Micropenis, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610829
Aicardi Syndrome
Microphthalmia ORPHA:50
Fraser Syndrome 1
Renal hypoplasia, Bilateral microphthalmos, Anophthalmia, Renal hypoplasia/aplasia, Micropenis, H... OMIM:219000
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Pallister-Hall Syndrome
Unilateral renal agenesis, Bilateral renal agenesis, Paroxysmal bursts of laughter, Ectopic kidne... ORPHA:672
Chromosome 13Q14 Deletion Syndrome
Micropenis, Microphthalmia OMIM:613884
Holoprosencephaly 7
Bilateral microphthalmos, Microphthalmia OMIM:610828
Phace Syndrome
Lens coloboma, Optic nerve hypoplasia, Microphthalmia ORPHA:42775
Aicardi Syndrome
Microphthalmia OMIM:304050
Fontaine Progeroid Syndrome
Micropenis, Left ventricular hypertrophy, Microphthalmia OMIM:612289
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Right ventricular hypertrophy, Microphthalmia OMIM:620186
Myhre Syndrome
Microphthalmia OMIM:139210
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Motor stereotypy, Microphthalmia OMIM:612474
Neuroocular Syndrome 1
Hypoplasia of the fovea, Attention deficit hyperactivity disorder, Lens coloboma, Microphthalmia OMIM:619539
Microphthalmia, Syndromic 1
Renal hypoplasia, Hydroureter, Anophthalmia, Self-mutilation, Renal hypoplasia/aplasia, Aggressiv... OMIM:309800
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Webbed penis, Multicystic kidney dysplasia, Bruxism, Vesicoureteral reflux, Renal duplication, Hy... ORPHA:261537
Hydrolethalus Syndrome 1
Hydronephrosis, Hypospadias, Microphthalmia OMIM:236680
Mowat-Wilson Syndrome
Webbed penis, Multicystic kidney dysplasia, Bruxism, Vesicoureteral reflux, Renal duplication, Hy... ORPHA:2152
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Hypoplasia of the retina, Microphthalmia OMIM:253280
Microphthalmia, Syndromic 6
Renal hypoplasia, Anophthalmia, Microphthalmia OMIM:607932
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Webbed penis, Multicystic kidney dysplasia, Duplication of renal pelvis, Bruxism, Vesicoureteral ... ORPHA:261552
Holoprosencephaly 1
Micropenis, Microphthalmia OMIM:236100
Branchiooculofacial Syndrome
Renal agenesis, Anophthalmia, Renal cyst, Microphthalmia, Hypospadias OMIM:113620
Monosomy 13Q14
Microphthalmia ORPHA:1587
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Neu-Laxova Syndrome 1
Renal agenesis, Microphthalmia OMIM:256520
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Vesicoureteral reflux, Ureteropelvic junction obstr... OMIM:164210
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Roberts-Sc Phocomelia Syndrome
Long penis, Horseshoe kidney, Microphthalmia, Polycystic kidney dysplasia, Hypospadias OMIM:268300
Mowat-Wilson Syndrome
Hypospadias, Abnormality of the kidney, Microphthalmia OMIM:235730
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos ORPHA:93325
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Holoprosencephaly 2
Microphthalmia OMIM:157170

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 Acot3

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 Acot3.

No publications found that use IMPC mice or data for Acot3.

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MGI Allele Allele Type Produced
Acot3tm45747(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Acot3em1(IMPC)Mbp Exon Deletion Mice, Tissue

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