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Gene: Msh3 MGI:109519

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Gene Summary

Name:
mutS homolog 3
Synonyms:
Rep3,  D13Em1,  Rep-3

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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 Msh3em1(IMPC)Mbp HOM Early adult 0.00
cataract Msh3em1(IMPC)Mbp HOM   Early adult 6.14×10-08
abnormal heart morphology Msh3em1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Msh3em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Msh3em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Msh3em1(IMPC)Mbp HOM Early adult 0.00
abnormal vitreous body morphology Msh3em1(IMPC)Mbp HOM   Early adult 6.74×10-08

Download data as:  TSV  XLS

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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

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Msh3 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.

The table below shows human diseases associated to Msh3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... ORPHA:480536
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Familial Adenomatous Polyposis 4
Duodenal polyposis, Astrocytoma, Gastric adenocarcinoma, Adenomatous colonic polyposis, Uterine l... OMIM:617100

The table below shows human diseases predicted to be associated to Msh3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... OMIM:616415
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... ORPHA:247798
Ethanolaminosis
Cardiomegaly OMIM:227150
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Muir-Torre Syndrome
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... OMIM:158320
Hereditary Mixed Polyposis Syndrome
Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi... ORPHA:157794
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi... OMIM:615382
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... ORPHA:447877
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... ORPHA:247806
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... ORPHA:220460
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... OMIM:619902
Familial Adenomatous Polyposis 1
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... OMIM:175100
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract, 3-Methylglutaconic aciduria OMIM:619813
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morp... ORPHA:85445
Familial Adenomatous Polyposis
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... ORPHA:733
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... OMIM:602088
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Bardet-Biedl Syndrome 18
Renal insufficiency, Cataract, Stage 5 chronic kidney disease OMIM:615995
Cataract 42
Cataract, Developmental cataract OMIM:115900
Meckel Syndrome, Type 8
Pericardial effusion, Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney OMIM:613885
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Pulmoni... OMIM:615415
Xeroderma Pigmentosum, Complementation Group F
Seborrheic keratosis, Defective DNA repair after ultraviolet radiation damage, Keratoacanthoma, S... OMIM:278760
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction, Cataract ORPHA:1380
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Optic disc pallor, Cataract, Ventricular septal defect, Ectopic kidney, Cystic rena... OMIM:613730
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec... OMIM:314390
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ... ORPHA:1067
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Morm Syndrome
Micropenis, Cataract, Abnormality of the kidney, Retinal atrophy ORPHA:75858
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Hepatomegaly, Ureteral duplication, Cataract, Renal insufficiency, Long-chain di... OMIM:608836
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Attrv30M Amyloidosis
Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly ORPHA:85447
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Posterior embryotoxon, I... ORPHA:1473
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Tetralogy of Fallot ORPHA:1381
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... OMIM:620135
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Optic atrophy, Nephrotic syndrome, Focal segmental glome... OMIM:617303
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Chronic kidney disease, Stage 5 chronic kidney dis... ORPHA:3156
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Xeroderma Pigmentosum, Complementation Group E
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Defective DNA repair after u... OMIM:278740
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Aminoaciduria, Cataract ORPHA:79238
Mulibrey Nanism
Hepatomegaly, Corneal dystrophy, Cardiomegaly, Myocardial fibrosis, Pigmentary retinopathy, Astig... OMIM:253250
Coats Disease
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology ORPHA:190
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula... OMIM:261740
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venou... OMIM:608978
Refsum Disease, Classic
Cataract, Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Retinal degeneration OMIM:266500
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy ORPHA:1369
Neuroendocrine Neoplasm Of Appendix
Mechanical ileus, Functional intestinal obstruction, Midgut malrotation, Ovarian neoplasm, Intest... ORPHA:100079
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration OMIM:614292
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Situs inversus totalis, Splenomegaly, Ureteral atresia, Stage ... OMIM:208540
Leber Congenital Amaurosis 1
Keratoconus, Hepatomegaly, Cataract, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninuria OMIM:204000
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Neopl... ORPHA:424016
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Cataract, 3-Methylglutaconic aciduria, Iris hypopigmentation ORPHA:67048
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Cataract, Ventricular septal defect, Abnormal ri... ORPHA:500095
Neuraminidase Deficiency
Hepatomegaly, Cataract, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomega... OMIM:256550
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Optic atrop... ORPHA:505248
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Cataract, Proteinuria, Glomerular basement membrane lamellation, Corneal ero... OMIM:203780
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney OMIM:608022
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage, Basal cell carcinoma, Squamous cell carc... OMIM:278720
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma OMIM:120433
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity ORPHA:90654
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Retinitis Pigmentosa 4
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Cataract, Retinal atrophy OMIM:613731
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy OMIM:180104
Alpha-N-Acetylgalactosaminidase Deficiency
Cataract, Oligosacchariduria, Cardiomegaly ORPHA:3137
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Penoscrotal hypospadias, Ventricular septal defect, Dextrocardia, Coronar... OMIM:618280
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon... OMIM:620189
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... OMIM:130650
Retinitis Pigmentosa 84
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma OMIM:618220
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Optic disc colobom... OMIM:120200
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria ORPHA:251004
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Peters anomaly, Atrial septal defect, Patent foramen ovale OMIM:618652
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Congenital Toxoplasmosis
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly ORPHA:858
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Cataract, Abnormal heart valve morphology ORPHA:1345
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Weill-Marchesani Syndrome
Cataract, Ventricular septal defect, Ectopia lentis, Pulmonic stenosis, Aortic valve stenosis ORPHA:3449
Infantile Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Nephrotic syndrome, Cardiomegaly OMIM:269920
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata OMIM:193230
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomeru... OMIM:232200
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Dec... OMIM:232220
Tyrosinemia, Type I
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... OMIM:276700
Kaposiform Lymphangiomatosis
Pericardial effusion, Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney ORPHA:464329
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly ORPHA:615
Alg9-Cdg
Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypoplasia, Pericard... ORPHA:79328
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Retinal detachment, Lens ... OMIM:120330
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly OMIM:614702
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Nummular pigmentation of the fundus, Pigmentary retinopathy OMIM:613835
H Syndrome
Abnormality of the kidney, Hepatosplenomegaly, Corneal arcus, Micropenis, Enlarged kidney ORPHA:168569
Lymphoid Interstitial Pneumonia
Hepatomegaly, Keratoconjunctivitis sicca, Enlarged kidney ORPHA:79128
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Mucopolysacchariduria, Opa... OMIM:252500
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Cataract OMIM:615184
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma, Dysphagia OMIM:606764
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hy... OMIM:212140
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... OMIM:300280
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... OMIM:252920
Igg4-Related Kidney Disease
Pericarditis, Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urina... ORPHA:449395
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney OMIM:613091
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... OMIM:609049
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Xeroderma Pigmentosum, Complementation Group A
Melanoma, Squamous cell carcinoma of the skin, Defective DNA repair after ultraviolet radiation d... OMIM:278700
Transketolase Deficiency
Hepatomegaly, Increased level of ribose in urine, Cataract, Ventricular septal defect, Renal cyst... ORPHA:488618
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Nephrotic syndrome, Astigmatism, Left ventricular hyp... OMIM:617713
Hsd10 Disease, Infantile Type
Cardiomegaly, Optic atrophy, Abnormality of the lower urinary tract, Hypertrophic cardiomyopathy,... ORPHA:391428
Endocrine-Cerebroosteodysplasia
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney OMIM:612651
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Peroxisome Biogenesis Disorder 10B
Nephrocalcinosis, Neurogenic bladder, Cataract OMIM:617370
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Wolfram Syndrome 1
Neurogenic bladder, Cataract, Hydroureter, Optic atrophy, Cardiomyopathy, Pigmentary retinopathy,... OMIM:222300
Hyperparathyroidism, Transient Neonatal
Unilateral renal agenesis, Enlarged kidney OMIM:618188
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Right atrial enlargement, Cardiomegaly OMIM:614473
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Cataract, Glomerular basement membrane lamellation, Proteinuria, Thickened g... OMIM:308940
Attrv122I Amyloidosis
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... ORPHA:85451
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Nephroblastoma, Cardiomegaly, Splenomegaly, Nephrolithiasis, ... ORPHA:116
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Ogden Syndrome
Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def... OMIM:300855
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma... ORPHA:97286
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Mitral valve prolapse, Abnormal heart morphology, Enuresis no... OMIM:615873
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly OMIM:255120
Lymphedema-Hypoparathyroidism Syndrome
Nephropathy, Renal insufficiency, Cataract, Mitral valve prolapse OMIM:247410
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Iris coloboma OMIM:212550
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, Hy... OMIM:616897
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Nephrocalcinosis, Enl... ORPHA:79259
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly ORPHA:42
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Oliguria, Stage 5 chronic ... ORPHA:731
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro... OMIM:268315
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu... ORPHA:228308
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Cardiomegaly, Hypertrophic c... OMIM:201475
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... OMIM:115310
Hemochromatosis, Type 1
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:235200
Primary Sclerosing Cholangitis
Cholangiocarcinoma, Hepatocellular carcinoma, Celiac disease, Ulcerative colitis, Neoplasm of the... ORPHA:171
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Corneal opacity, Cardiomegaly ORPHA:349
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Glomerulonephritis, Cardiomegaly ORPHA:99931
Leprechaunism
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypertrophic cardio... ORPHA:508
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Pseudo-Torch Syndrome 3
Acute kidney injury, Proteinuria, Cardiomegaly OMIM:618886
Xeroderma Pigmentosum, Complementation Group D
Melanoma, Defective DNA repair after ultraviolet radiation damage OMIM:278730
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... ORPHA:324410
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Exudative Vitreoretinopathy 6
Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,... OMIM:616468
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Chromosomal breakage induced... OMIM:600901
Dent Disease
Renal insufficiency, Cataract, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy,... ORPHA:1652
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, 3-Methylglutaconic aciduria, Optic atrophy, Cardiomegaly OMIM:619259
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Chromosomal breakage induced... OMIM:227650
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Conjunctival icterus, Left ventricular hyper... ORPHA:57777
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Ventricular septal defect, Hypospadias, Splenomegaly, Renal cyst, Cardiomyopathy, D... OMIM:312870
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Chromosomal breakage induced... OMIM:227645
Knobloch Syndrome
Retinal detachment, Cataract, Dextrocardia, Ectopia lentis, Macular degeneration, Vesicoureteral ... ORPHA:1571
Sickle Cell Disease
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria OMIM:603903
Alagille Syndrome 1
Duplicated collecting system, Cataract, Ventricular septal defect, Band keratopathy, Multiple sma... OMIM:118450
Diamond-Blackfan Anemia
Acute myeloid leukemia, Cleft soft palate, Myelodysplasia, High palate, Adenocarcinoma of the col... ORPHA:124
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Histiocytoid Cardiomyopathy
Hepatomegaly, Corneal opacity, Ventricular septal defect, Cardiomegaly, Optic atrophy, Renal cyst... ORPHA:137675
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis... ORPHA:263479
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Mucopolysaccharidosis Type 3
Hepatomegaly, Cataract, Corneal opacity, Cardiomegaly, Heparan sulfate excretion in urine, Spleno... ORPHA:581
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor OMIM:619649
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Fanconi Anemia, Complementation Group D2
Esophageal atresia, Tracheoesophageal fistula, Deficient excision of UV-induced pyrimidine dimers... OMIM:227646
Trichothiodystrophy
High, narrow palate, Defective DNA repair after ultraviolet radiation damage, Squamous cell carci... ORPHA:33364
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... ORPHA:480536
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Overriding aorta, Ventricular septal defect, Sclerocornea, Hypospadias, Pigmentary reti... OMIM:309801
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly OMIM:268800
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Urinary incontinence, Cardiomegaly OMIM:105210
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... OMIM:602782
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Atrial septal defect, Left ventric... ORPHA:79330
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly OMIM:208000
Aniridia 1
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... OMIM:106210
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Hydronephrosis OMIM:614921
Oculoauricular Syndrome
Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste... OMIM:612109
De Sanctis-Cacchione Syndrome
Melanoma, Defective DNA repair after ultraviolet radiation damage OMIM:278800
Xfe Progeroid Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:610965
Pudendal Neuralgia
Neoplasm of the genitourinary tract, Anal canal adenocarcinoma, Genital neoplasm ORPHA:60039
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ... ORPHA:47159
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio... ORPHA:308552
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Symptomatic Form Of Hfe-Related Hemochromatosis
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly ORPHA:465508
Atelis Syndrome 2
Supravalvar pulmonary stenosis, Remnants of the hyaloid vascular system, Pulmonic stenosis, Devel... OMIM:620185
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Developmental glaucoma, Mitral valve prolapse, Atrial septal... OMIM:245600
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Pollakisuria, Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly OMIM:620306
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Glycopeptiduria, Tortuosity of conjunctival vessels, Ol... OMIM:230000
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:608013
Carney Triad
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenom... ORPHA:139411
Microphthalmia, Syndromic 2
Retinal detachment, Ventricular septal defect, Dextrocardia, Hypospadias, Remnants of the hyaloid... OMIM:300166
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma, Cardiomegaly ORPHA:79280
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Glycogen Storage Disease Ii
Splenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly OMIM:232300
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Abnormal tubulointerstitial morphology,... ORPHA:904
Bohring-Opitz Syndrome
Retinal atrophy, Cardiomegaly, Optic atrophy, Abnormal cardiac septum morphology, Urinary retenti... ORPHA:97297
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Abetalipoproteinemia
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Keratoconjunctivitis sicca, Corn... ORPHA:14
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Abnormality iris morphology, Cardiomegaly ORPHA:91387
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... ORPHA:1677
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Neuroocular Syndrome
Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ... OMIM:619539
Yunis-Varon Syndrome
Cataract, Ventricular septal defect, Hypospadias, Sclerocornea, Cardiomegaly, Renovascular hypert... ORPHA:3472
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly OMIM:618278
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract ORPHA:637
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio... ORPHA:365
Aicardi-Goutières Syndrome
Cardiomegaly, Developmental glaucoma, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Micropenis ORPHA:51
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Liver Disease, Severe Congenital
Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, Left atrial enlargem... OMIM:619991
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... ORPHA:97685
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... ORPHA:75565
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Retinal hemorrhag... ORPHA:51608
Common Variable Immunodeficiency
Gastrointestinal stroma tumor, Lymphoma, Anal atresia ORPHA:1572
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Punctate opacification of the cornea, Conjunctivitis OMIM:256040
Dermatomyositis
Gastrointestinal stroma tumor, Lymphoma, Breast carcinoma, Neoplasm, Lung adenocarcinoma ORPHA:221
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Iris coloboma, Single ventricle OMIM:157170
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Familial Adenomatous Polyposis 4
Duodenal polyposis, Astrocytoma, Gastric adenocarcinoma, Adenomatous colonic polyposis, Uterine l... OMIM:617100
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... OMIM:182250

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 Msh3

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 Msh3.

No publications found that use IMPC mice or data for Msh3.

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MGI Allele Allele Type Produced
Msh3em1(IMPC)Mbp Exon Deletion Mice, Tissue

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