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Gene: Acot3 MGI:2159619

Gene Summary

Name:

acyl-CoA thioesterase 3

Synonyms:

Pte2a, PTE-Ia

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal eye morphology	Acot3^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased freezing behavior	Acot3^em1(IMPC)Mbp	HOM	Early adult	7.94×10^-06
enlarged kidney	Acot3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal kidney morphology	Acot3^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased exploration in new environment	Acot3^em1(IMPC)Mbp	HOM	Early adult	5.46×10^-08
microphthalmia	Acot3^em1(IMPC)Mbp	HOM	Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

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.

Human diseases associated with Acot3 (0 diseases)
Human diseases predicted to be associated with Acot3 (445 diseases)

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	Matching phenotypes	Source
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Enuresis, Irritability, Tics, ...	ORPHA:66624
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Meckel Syndrome, Type 8	Anophthalmia, Polycystic kidney dysplasia, Microphthalmia, Hyperechogenic kidneys, Enlarged kidney	OMIM:613885
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
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Enlarged kidney	OMIM:615285
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Gombo Syndrome	Microphthalmia	OMIM:233270
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,...	ORPHA:85445
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Hepatomegaly	ORPHA:2432
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Dihydropyrimidine Dehydrogenase Deficiency	Hyperactivity, Microphthalmia, Uraciluria	OMIM:274270
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Nanophthalmos	Microphthalmia	ORPHA:35612
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Cat-Eye Syndrome	Microphthalmia, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:195
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Microphthalmia	OMIM:120433
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal...	OMIM:263200
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
Nanophthalmos 4	Microphthalmia	OMIM:615972
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Progressive psychomotor deterioration, Mac...	ORPHA:251004
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Ectopic kidney, Cystic renal dysplasia, Hepatomegaly	OMIM:613730
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Attention ...	OMIM:617914
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the blad...	ORPHA:2547
Biemond Syndrome Type 2	Microphthalmia, Hypospadias	ORPHA:141333
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney	OMIM:608022
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor...	ORPHA:3077
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic...	OMIM:608836
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ...	OMIM:617303
Congenital Toxoplasmosis	Hepatomegaly, Microphthalmia, Cognitive impairment, Cardiomegaly	ORPHA:858
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Mmep Syndrome	Microphthalmia	ORPHA:3434
Joubert Syndrome 22	Microphthalmia, Renal hypoplasia	OMIM:615665
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Impulsivity, Aggressive behavior, Lens coloboma, Renal hypoplasia, Self-injurious behavior, Micro...	OMIM:618914
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Seckel Syndrome 2	Microphthalmia, Hypospadias, Ectopic kidney	OMIM:606744
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Ketonuria, Renal hypoplasia, Hepatomegaly	OMIM:619053
Bresek Syndrome	Hypoplasia of the bladder, Optic nerve hypoplasia, Renal hypoplasia, Vesicoureteral reflux, Micro...	ORPHA:85284
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis, Dysphagia	OMIM:308350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Hematuria, Microphthalmia	ORPHA:1473
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Enlarged kidney, ...	OMIM:232200
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney	OMIM:619318
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Enl...	OMIM:232220
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Splenomegaly, Stage 5 chronic kidney disease, Ureteral atresia...	OMIM:208540
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Increased urinary porphobili...	ORPHA:100924
Cofs Syndrome	Microphthalmia	ORPHA:1466
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Pierpont Syndrome	Microphthalmia, Micropenis	OMIM:602342
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Trisomy 13	Anophthalmia, Displacement of the urethral meatus, Abnormality of the ureter, Aplasia/Hypoplasia ...	ORPHA:3378
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Matthew-Wood Syndrome	Anophthalmia, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia	ORPHA:2470
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Oliguria, Stage 5 chronic ...	ORPHA:731
Alg9-Cdg	Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Irritability, Abnormal renal artery...	ORPHA:79328
Meckel Syndrome, Type 5	Microphthalmia, Renal cyst	OMIM:611561
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer...	OMIM:276700
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Dysph...	OMIM:615873
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Rere-Related Neurodevelopmental Syndrome	Hypospadias, Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Vesico...	ORPHA:494344
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Kaposiform Lymphangiomatosis	Splenomegaly, Multiple renal cysts, Enlarged kidney, Hepatosplenomegaly	ORPHA:464329
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Lymphoid Interstitial Pneumonia	Hepatomegaly, Enlarged kidney	ORPHA:79128
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Unilateral renal agenesis, Renal hypoplasia, Dysphagia, Microphthalmia, Hydronephrosis	OMIM:618494
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Nephroblastoma	OMIM:602501
17Q12 Microduplication Syndrome	Microphthalmia, Self-injurious behavior	ORPHA:261272
Myoclonic-Astatic Epilepsy	Microphthalmia, Hyperactivity, Abnormal emotion, Attention deficit hyperactivity disorder	ORPHA:1942
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro...	OMIM:130650
H Syndrome	Micropenis, Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly	ORPHA:168569
Endocrine-Cerebroosteodysplasia	Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney	OMIM:612651
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr...	ORPHA:505248
Igg4-Related Kidney Disease	Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf...	ORPHA:449395
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Nephrocalcinosis, Cog...	ORPHA:79259
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:152950
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis	OMIM:618188
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Joubert Syndrome 37	Microphthalmia, Micropenis, Hydronephrosis, Hepatomegaly	OMIM:619185
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos, Tongue thrusting	ORPHA:77299
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney, Vesicouret...	OMIM:609053
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Splenomegaly, Hepatomegaly	ORPHA:290
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
3Q29 Microdeletion Syndrome	Hypospadias, Aggressive behavior, Horseshoe kidney, Depression, Attention deficit hyperactivity d...	ORPHA:65286
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Hepatomegaly	OMIM:618805
Norrie Disease	Aggressive behavior, Hypoplasia of the iris, Buphthalmos, Dementia, Microphthalmia	OMIM:310600
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated urinary aminoisobutyric ...	OMIM:614105
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Enlarged kidney	OMIM:252500
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Ring Chromosome 10 Syndrome	Microphthalmia, Renal hypoplasia/aplasia	ORPHA:1438
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Ogden Syndrome	Global glomerulosclerosis, Cardiomegaly, Irritability, Polycystic kidney dysplasia, Dysphagia, Ab...	OMIM:300855
Joubert Syndrome 14	Microphthalmia, Irritability, Renal cyst	OMIM:614424
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Lissencephaly 8	Microphthalmia	OMIM:617255
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Micropenis	OMIM:610756
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Enlarged kidney	ORPHA:276280
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Microphthalmia	OMIM:613153
Meckel Syndrome, Type 2	Microphthalmia, Renal cyst	OMIM:603194
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Progressive neurologic deterioration	OMIM:214150
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Unilateral microphthalmos	OMIM:615085
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment	ORPHA:309246
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Beckwith-Wiedemann Syndrome	Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ...	ORPHA:116
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Fanconi Anemia, Complementation Group R	Microphthalmia, Pelvic kidney	OMIM:617244
Moebius Syndrome	Microphthalmia, Micropenis, Dysphagia	OMIM:157900
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney	ORPHA:500095
Microphthalmia, Syndromic 5	Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Cardiomegaly	OMIM:618652
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hypoplasia of penis, Anophthalmia, Hypospadias	ORPHA:77298
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Self-injurious behavior, Microphthalmia, Hydr...	ORPHA:568
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Restlessness, Hyperactivity, Aggressive behavior, Bilateral microphthalmos, Agitation, Overfriend...	ORPHA:369891
Meacham Syndrome	Enlarged kidney, Horseshoe kidney	OMIM:608978
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia, Vesicoureteral reflux	OMIM:120200
Meckel Syndrome, Type 4	Microphthalmia, Renal cyst	OMIM:611134
Congenital Fibrinogen Deficiency	Left ventricular hypertrophy, Microphthalmia, Micropenis, Right ventricular hypertrophy	ORPHA:335
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Dysphagia	OMIM:612379
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomegaly	OMIM:261740
Temtamy Syndrome	Microphthalmia, Self-mutilation	OMIM:218340
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Attention deficit hyperactivity disorder, Compulsive behaviors	ORPHA:404440
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Marden-Walker Syndrome	Microphthalmia, Micropenis, Hypospadias, Renal hypoplasia	OMIM:248700
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl...	OMIM:617666
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney, Enlarged kidney	OMIM:306955
Duane-Radial Ray Syndrome	Renal malrotation, Optic disc hypoplasia, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Ves...	OMIM:607323
Leprechaunism	Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney	ORPHA:508
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Attention deficit hyperactivity disorder, Compulsive behaviors, Aggressive behavior	OMIM:620098
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Oligosacchariduria	ORPHA:163649
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
1Q21.1 Microdeletion Syndrome	Depression, Attention deficit hyperactivity disorder, Vesicoureteral reflux, Microphthalmia, Hydr...	ORPHA:250989
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Baraitser-Winter Syndrome 1	Microphthalmia, Micropenis	OMIM:243310
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Renal agenesis, Ectopic kidney, Abnormal renal morphology, Horsesho...	OMIM:227650
Refsum Disease	Splenomegaly, Microphthalmia, Renal insufficiency	ORPHA:773
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia, Pelvic kidney, Hydronephrosis	OMIM:613001
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Micropenis	OMIM:602361
3P25.3 Microdeletion Syndrome	Microphthalmia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:435638
Fanconi Anemia, Complementation Group F	Renal hypoplasia, Microphallus, Vesicoureteral reflux, Microphthalmia, Pelvic kidney	OMIM:603467
Micro Syndrome	Microphthalmia, Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney	ORPHA:2510
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Attention deficit...	OMIM:227646
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Stevenson-Carey Syndrome	Microphthalmia, Recurrent urinary tract infections	OMIM:611961
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Microphthalmia	OMIM:600901
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Fetal Alcohol Syndrome	Microphthalmia, Cognitive impairment	ORPHA:1915
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Warburg Micro Syndrome 4	Microphthalmia, Micropenis	OMIM:615663
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Proteinuria, Multiple bladder diverticula	ORPHA:2728
Chromosome 13Q33-Q34 Deletion Syndrome	Hyperactivity, Hypospadias, Aggressive behavior, Penoscrotal transposition, Left ventricular hype...	OMIM:619148
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Attention deficit hyperactivity disorder, Microphtha...	OMIM:614083
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia, Multicystic kidney dysplasia	ORPHA:3301
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Kapur-Toriello Syndrome	Microphthalmia, Hypoplasia of penis	ORPHA:2328
Monosomy 18P	Microphthalmia	ORPHA:1598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Hypospadias, Hydronephrosis	OMIM:616449
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Optic nerve hypoplasia	ORPHA:370959
Pierson Syndrome	Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Proteinuria, Stage 5...	OMIM:609049
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Pallister-Hall Syndrome	Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena...	OMIM:146510
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo...	OMIM:617729
Warburg Micro Syndrome 3	Microphthalmia, Micropenis	OMIM:614222
Pseudotrisomy 13 Syndrome	Microphthalmia, Micropenis, Renal agenesis, Renal hypoplasia	OMIM:264480
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Horseshoe kidney, Multiple renal cysts, Microphthalmia, Hyd...	ORPHA:99776
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Hypoplasia of the iris,...	ORPHA:2092
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Renal hypoplasia/aplasi...	ORPHA:2538
Stromme Syndrome	Hydronephrosis, Microphthalmia, Bilateral renal hypoplasia, Optic nerve hypoplasia	OMIM:243605
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Acro-Renal-Ocular Syndrome	Renal malrotation, Optic disc hypoplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Bladder div...	ORPHA:959
Joubert Syndrome 2	Microphthalmia, Renal insufficiency, Renal cyst, Nephronophthisis	OMIM:608091
Walker-Warburg Syndrome	Microphthalmia, Hypoplasia of penis, Anophthalmia	ORPHA:899
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Cockayne Syndrome Type 3	Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Pr...	ORPHA:90324
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, Hydronephrosis	ORPHA:35173
Microphthalmia, Syndromic 9	Renal malrotation, Anophthalmia, Bilateral microphthalmos, Renal hypoplasia, Horseshoe kidney, Pe...	OMIM:601186
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Rodrigues Blindness	Microphthalmia	OMIM:268320
Mosaic Trisomy 1	Renal cortical cysts, Renal cyst, Microphthalmia, Micropenis, Penile hypospadias	ORPHA:1692
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Nephroblastoma,...	OMIM:312870
Cat Eye Syndrome	Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia, Hydronephrosis	OMIM:115470
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Micropenis	OMIM:241410
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Microphthalmia	OMIM:227645
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Aggressive behavior, Male urethral meatus stenosis, Microphthalmia, Hydronephrosis	ORPHA:464738
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Vesicoureteral reflux, Microphthalmia, Hydronephrosis	ORPHA:2059
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Hypospadias	ORPHA:2505
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Hypoplasia of the iris, Nephrotic ...	OMIM:251300
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi...	ORPHA:534
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Renal dysplasia	OMIM:618571
Kapur-Toriello Syndrome	Microphthalmia, Micropenis, Abnormality of the urinary system	OMIM:244300
Cardiac-Urogenital Syndrome	Enlarged kidney, Micropenis, Penoscrotal hypospadias, Patent urachus	OMIM:618280
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Warburg Micro Syndrome 2	Microphthalmia, Micropenis	OMIM:614225
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Teebi-Shaltout Syndrome	Microphthalmia, Ureteral stenosis, Hydronephrosis, Horseshoe kidney	OMIM:272950
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Hydronephrosis	OMIM:302960
Xeroderma Pigmentosum, Complementation Group D	Mental deterioration, Microphthalmia	OMIM:278730
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypospadias, Optic nerve hypoplasia, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Micropht...	ORPHA:508498
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, Hypospadias	OMIM:615877
Martsolf Syndrome 1	Microphthalmia, Micropenis	OMIM:212720
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Dubowitz Syndrome	Short attention span, Hyperactivity, Hypospadias, Hypoplasia of the iris, Microphthalmia	OMIM:223370
Trisomy 18	Cognitive impairment, Microphthalmia, Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:3380
Meckel Syndrome 14	Microphthalmia, Polycystic kidney dysplasia	OMIM:619879
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia, Renal agenesis, Renal hypoplasia/aplasia	ORPHA:3412
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Renal hypoplasia, Renal cyst	OMIM:616300
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Microphthalmia, Micropenis	OMIM:206900
8Q21.11 Microdeletion Syndrome	Microphthalmia, Hypoplasia of penis	ORPHA:284160
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Micropenis	OMIM:614230
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Bilateral microphthalmos, Self-in...	ORPHA:468631
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Renal cyst, Attention deficit hyperactivity disorder, Vesicoureteral reflux, Microph...	OMIM:616975
Mycophenolate Mofetil Embryopathy	Microphthalmia, Ectopic kidney	ORPHA:268249
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Abnormal localization of kidney, Micr...	ORPHA:2166
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior,...	ORPHA:353281
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Hydronephrosis	ORPHA:2839
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Cognitive impairment	ORPHA:1236
Cockayne Syndrome	Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilate...	ORPHA:191
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Histiocytoid Cardiomyopathy	Hepatomegaly, Cardiomegaly, Renal cyst, Microphthalmia, Congenital aphakia	ORPHA:137675
Atelis Syndrome 2	Microphthalmia, Attention deficit hyperactivity disorder	OMIM:620185
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Hypoplasia of penis, Anophthalmia	ORPHA:2250
Adams-Oliver Syndrome	Microphthalmia	ORPHA:974
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Aggressive behavior, Bicarbonaturia, Proximal renal tubul...	OMIM:309000
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Proteinuria, Abnormality of the urinary system, Cognitive impa...	ORPHA:2162
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Unilateral microphthalmos	OMIM:618874
Cousin Syndrome	Microphthalmia, Hydronephrosis	OMIM:260660
Incontinentia Pigmenti	Cognitive impairment, Microphthalmia, Attention deficit hyperactivity disorder	ORPHA:464
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Monosomy 9Q22.3	Hyperactivity, Microphthalmia, Nephroblastoma	ORPHA:77301
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Ohdo Syndrome, X-Linked	Microphthalmia, Micropenis	OMIM:300895
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Aplasia/Hypoplasia of the iris,...	ORPHA:564
Degcags Syndrome	Hepatomegaly, Recurrent urinary tract infections, Hypospadias, Bilateral renal dysplasia, Oral-ph...	OMIM:619488
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Buphthalmos, Microphthalmia, Renal dysplasia, Optic nerve hypoplasia	OMIM:236670
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
22Q11.2 Deletion Syndrome	Hypospadias, Splenomegaly, Renal hypoplasia, Depression, Multiple renal cysts, Polycystic kidney ...	ORPHA:567
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Fanconi Anemia	Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas...	ORPHA:84
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Charge Syndrome	Anophthalmia, Horseshoe kidney, Attention deficit hyperactivity disorder, Compulsive behaviors, V...	ORPHA:138
Fryns Syndrome	Ureteral duplication, Hypospadias, Renal agenesis, Renal cyst, Microphthalmia, Hydronephrosis	OMIM:229850
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Cohen Syndrome	Microphthalmia	ORPHA:193
Frontorhiny	Microphthalmia	ORPHA:391474
Hallermann-Streiff Syndrome	Microphthalmia, Hyperactivity	OMIM:234100
Jacobsen Syndrome	Microphthalmia, Macular hypoplasia, Hypospadias	OMIM:147791
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Multicystic kidney dysplasia, Nephroblastoma	ORPHA:1052
Steinfeld Syndrome	Microphthalmia, Unilateral renal dysplasia	OMIM:184705
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia	OMIM:253800
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Micropenis, Chordee, Hypospadias	OMIM:309801
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Hypoplasia of the iris, Microphthal...	OMIM:133540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Meckel Syndrome, Type 1	Hypoplasia of the bladder, Renal agenesis, Splenomegaly, Abnormality of the ureter, Polycystic ki...	OMIM:249000
Proboscis Lateralis	Anophthalmia, Optic nerve hypoplasia, Unilateral renal agenesis, Ureteral agenesis, Duplication o...	ORPHA:141099
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Renal hypoplasia	OMIM:620005
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Oculoauricular Syndrome	Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia	OMIM:612109
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Bartsocas-Papas Syndrome 1	Microphthalmia, Micropenis, Ectopic kidney	OMIM:263650
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Mend Syndrome	Microphthalmia, Hyperactivity, Aggressive behavior	ORPHA:401973
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia, Horseshoe kidney	ORPHA:1106
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia, Micropenis, Hypospadias, Horseshoe kidney	OMIM:609945
8Q24.3 Microdeletion Syndrome	Hyperactivity, Optic nerve hypoplasia, Unilateral renal agenesis, Abnormality of the kidney, Bila...	ORPHA:508488
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent urinary tract infections, Hyperactivity, Hypospadias, Abnormality of the kidney, Impuls...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent urinary tract infections, Hyperactivity, Hypospadias, Abnormality of the kidney, Impuls...	ORPHA:353277
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:3186
Holoprosencephaly 9	Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Roberts Syndrome	Microphthalmia, Long penis, Polycystic kidney dysplasia	ORPHA:3103
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Tetraamelia Syndrome 1	Microphthalmia, Renal agenesis, Urethral atresia	OMIM:273395
Oculodentodigital Dysplasia	Microphthalmia, Neurogenic bladder	OMIM:164200
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Micropenis, Hypospadias	OMIM:603457
Monosomy 9P	Microphthalmia, Ureteropelvic junction obstruction, Hypospadias	ORPHA:261112
Fraser Syndrome	Hypoplasia of penis, Anophthalmia, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, U...	ORPHA:2052
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Micropenis	OMIM:617925
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,...	ORPHA:857
Treacher-Collins Syndrome	Microphthalmia, Hypoplasia of penis	ORPHA:861
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Hypospadias, Ureterocele	OMIM:616734
Renpenning Syndrome 1	Microphthalmia, Hypospadias, Renal hypoplasia, Phimosis	OMIM:309500
Charge Syndrome	Anophthalmia, Renal agenesis, Self-mutilation, Unilateral microphthalmos, Horseshoe kidney, Renal...	OMIM:214800
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia, Homocystinuria	OMIM:601552
Norrie Disease	Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Irritability, Self-injurious behavior, At...	ORPHA:649
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Microphthalmia	ORPHA:2556
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Basal Cell Nevus Syndrome 1	Microphthalmia	OMIM:109400
Focal Dermal Hypoplasia	Ureteral duplication, Anophthalmia, Horseshoe kidney, Aniridia, Microphthalmia, Bifid ureter, Hyd...	OMIM:305600
Yunis-Varon Syndrome	Hypospadias, Cardiomegaly, Bilateral microphthalmos, Renovascular hypertension, Renal artery sten...	ORPHA:3472
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Witteveen-Kolk Syndrome	Hyperactivity, Hypospadias, Phimosis, Aggressive behavior, Male urethral meatus stenosis, Microph...	OMIM:613406
Hallermann-Streiff Syndrome	Microphthalmia	ORPHA:2108
Trichothiodystrophy	Bilateral microphthalmos	ORPHA:33364
Fraser Syndrome 1	Anophthalmia, Hypospadias, Renal hypoplasia/aplasia, Bilateral microphthalmos, Renal hypoplasia, ...	OMIM:219000
Aicardi Syndrome	Microphthalmia	ORPHA:50
Pallister-Hall Syndrome	Hypospadias, Unilateral renal agenesis, Ectopic kidney, Paroxysmal bursts of laughter, Bilateral ...	ORPHA:672
Microphthalmia, Syndromic 2	Microphthalmia, Phthisis bulbi, Anophthalmia, Hypospadias	OMIM:300166
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Micropenis	OMIM:613884
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos	OMIM:610828
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Aicardi Syndrome	Microphthalmia	OMIM:304050
Fontaine Progeroid Syndrome	Left ventricular hypertrophy, Microphthalmia, Micropenis	OMIM:612289
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Right ventricular hypertrophy	OMIM:620186
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi	OMIM:259770
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:612474
Myhre Syndrome	Microphthalmia	OMIM:139210
Neuroocular Syndrome	Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Attention deficit hyperactivity disorder	OMIM:619539
Microphthalmia, Syndromic 1	Anophthalmia, Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Aggressive behavior, Renal hypo...	OMIM:309800
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Dysphagia, Chordee...	ORPHA:261537
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Hydrolethalus Syndrome 1	Microphthalmia, Hypospadias, Hydronephrosis	OMIM:236680
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Abnormality of the...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Dysphagia, Duplica...	ORPHA:261552
Holoprosencephaly 1	Microphthalmia, Micropenis	OMIM:236100
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia, Renal hypoplasia	OMIM:607932
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Branchiooculofacial Syndrome	Anophthalmia, Renal agenesis, Hypospadias, Renal cyst, Microphthalmia	OMIM:113620
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Neu-Laxova Syndrome 1	Microphthalmia, Renal agenesis	OMIM:256520
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux...	OMIM:164210
Adams-Oliver Syndrome 1	Microphthalmia	OMIM:100300
Roberts-Sc Phocomelia Syndrome	Hypospadias, Long penis, Horseshoe kidney, Polycystic kidney dysplasia, Microphthalmia	OMIM:268300
Mowat-Wilson Syndrome	Microphthalmia, Hypospadias, Abnormality of the kidney	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
Acot3^{tm45747(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Acot3^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Acot3 MGI:2159619

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Acot3 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data