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Gene: Msh3 MGI:109519

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Gene Summary

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

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
enlarged kidney Msh3em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Msh3em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Msh3em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Msh3em1(IMPC)Mbp HOM Early adult 0.00
cataract Msh3em1(IMPC)Mbp HOM Early adult 7.52×10-05
abnormal vitreous body morphology Msh3em1(IMPC)Mbp HOM Early adult 7.12×10-05
abnormal skin morphology Msh3em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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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
Neoplasm of the rectum, Colorectal polyposis, Stomach cancer, Neoplasm of the skin, Ovarian dermo... ORPHA:480536
Familial Adenomatous Polyposis 4
Gastric adenocarcinoma, Astrocytoma, Breast intraductal papilloma, Thyroid adenoma, Adenomatous c... OMIM:617100
Endometrial Cancer
Endometrial carcinoma OMIM:608089

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Familial Adenomatous Polyposis 3
Basal cell carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Prostate cancer, Bladder neopl... OMIM:616415
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Muir-Torre Syndrome
Basal cell carcinoma, Adenoma sebaceum, Ovarian neoplasm, Malignant genitourinary tract tumor, Be... OMIM:158320
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Pancreatic adenocarcinoma, Neoplasm of the rectum, Squamous cell carcinoma,... ORPHA:454840
Hereditary Mixed Polyposis Syndrome
Thyroid carcinoma, Hyperplastic colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, ... ORPHA:157794
Ethanolaminosis
Cardiomegaly OMIM:227150
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the colon, Large intestinal polyposis, ... ORPHA:247798
Polymerase Proofreading-Related Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Brain neoplasm, Aden... ORPHA:447877
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrop... OMIM:615382
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Lipoma, Odontoma, Desmoid tumors, Fibroadenoma of the breast, Duodenal ... ORPHA:247806
Mismatch Repair Cancer Syndrome 1
Basal cell carcinoma, T-cell lymphoma, Rhabdomyosarcoma, Pleomorphic xanthoastrocytoma, Leukemia,... OMIM:276300
Attenuated Familial Adenomatous Polyposis
Fibroma, Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the c... ORPHA:220460
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Familial Adenomatous Polyposis 1
Fibroma, Osteoma, Duodenal polyposis, Adrenocortical adenoma, Adenomatous colonic polyposis, Carc... OMIM:175100
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Basal cell carcinoma, Squamous cell carcinoma, Stomach cancer, Renal cell ca... ORPHA:79501
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal interstitial fibrosis, Hypertrophic cardiomyop... OMIM:619902
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... OMIM:613496
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, 3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Familial Adenomatous Polyposis
Lipoma, Odontoma, Pituitary adenoma, Desmoid tumors, Neoplasm of the gastrointestinal tract, Duod... ORPHA:733
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Aa Amyloidosis
Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Hepatomegaly, Nephrotic syndrome... ORPHA:85445
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Situs inversus totalis, ... OMIM:602088
Colorectal Cancer
Neoplasm of the stomach, Renal cell carcinoma, Hereditary nonpolyposis colorectal carcinoma, Tran... OMIM:114500
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Splenomegaly OMIM:615285
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Cataract 42
Cataract, Developmental cataract OMIM:115900
Bardet-Biedl Syndrome 18
Cataract, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Colon cancer, Hematochezia, Intussusception, Duodenal a... OMIM:174900
Meckel Syndrome, Type 8
Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Renal Dysplasia
Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure... ORPHA:93108
Galactosemia Iv
Cataract, Hepatomegaly OMIM:618881
Morm Syndrome
Cataract, Abnormality of the kidney, Retinal atrophy, Micropenis ORPHA:75858
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Xeroderma Pigmentosum, Complementation Group F
Keratoacanthoma, Defective DNA repair after ultraviolet radiation damage, Basal cell carcinoma, S... OMIM:278760
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Hypertrophic cardiomyo... OMIM:615415
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Gist-Plus Syndrome
Intussusception, Intestinal polyposis, Gastrointestinal stroma tumor OMIM:175510
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane, Cataract OMIM:620253
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Optic disc pallor, Cataract, Ventricular septal defect, Cystic rena... OMIM:613730
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Persistent pupillary membrane, Abnormal heart morphology, Cataract, Aplasia/Hypo... ORPHA:1067
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia... OMIM:314390
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cy... OMIM:263200
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Colon cancer, Endometrial carcinoma, Adenomatous co... OMIM:613244
Amyloidosis, Finnish Type
Cardiac amyloidosis, Cardiomyopathy, Optic neuropathy, Lattice corneal dystrophy, Nephrotic syndr... OMIM:105120
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hepatomegaly, Cardiomegaly, Long-chain dicarboxylic acidur... OMIM:608836
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries ORPHA:90301
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Nephropathy ORPHA:85447
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Hematuria, Retinal detachment, Corneal opacity, Posterior embryotoxon, Cataract, I... ORPHA:1473
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... OMIM:620135
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Tetralogy of Fallot, Cataract ORPHA:1381
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colorectal polyposis OMIM:612591
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage, Basal cell carcinoma, Squamous cell carc... OMIM:278740
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Enlarged kidney, Hepatomegaly, Focal segmental glomerulosclerosis, Hypertrophic ca... OMIM:617303
Senior-Loken Syndrome
Nephronophthisis, Abnormality of retinal pigmentation, Chronic kidney disease, Cataract, Stage 5 ... ORPHA:3156
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Pterygium, Hypertrophic c... OMIM:618052
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... OMIM:306955
Cataract 47
Cataract, Glycosuria, Microcornea OMIM:612018
Galactose Epimerase Deficiency
Cataract, Splenomegaly, Hepatomegaly, Aminoaciduria ORPHA:79238
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Cataract, Mesangial hypercellularity, Nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:620425
Mulibrey Nanism
Astigmatism, Hepatomegaly, Corneal dystrophy, Pericardial constriction, Myocardial fibrosis, Card... OMIM:253250
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion,... OMIM:261740
Coats Disease
Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract ORPHA:190
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Cataract, Retinal degeneration OMIM:266500
Neuroendocrine Neoplasm Of Appendix
Ovarian neoplasm, Midgut malrotation, Mechanical ileus, Adenocarcinoma of the colon, Functional i... ORPHA:100079
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy, Hypertrophic cardiomyopathy ORPHA:1369
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Optic disc pallor OMIM:619170
Meacham Syndrome
Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmo... OMIM:608978
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Lipoma, Pilomatrixoma, Adenocarcinoma of the colon, Embryonal rhabdomyosarcoma, Multiple enchondr... OMIM:620189
Leber Congenital Amaurosis 1
Hepatomegaly, Optic disc drusen, Keratoconus, Hyperthreoninuria, Cataract, Pigmentary retinopathy OMIM:204000
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lens subluxation, Lattice retinal degeneration, Cataract OMIM:614292
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage, Basal cell carcinoma, Actinic keratosis,... OMIM:278720
Gastrointestinal Stromal Tumor
Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the stomach... ORPHA:44890
Adenocarcinoma Of The Anal Canal
Rectal prolapse, Anal stenosis, Neoplasm of the rectum, Neoplasm of the lung, Neoplasm of the ske... ORPHA:424016
Alport Syndrome 2, Autosomal Recessive
Hematuria, Corneal erosion, Renal insufficiency, Nephrotic syndrome, Thickened glomerular basemen... OMIM:203780
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Enlarged kidney, Atrial septal defect, Hepatomegaly, Polycystic kidney dy... OMIM:208540
3-Methylglutaconic Aciduria Type 4
Cataract, 3-Methylglutaconic aciduria, Iris hypopigmentation, Cardiomyopathy ORPHA:67048
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Urinary excretion of sialylated oligosaccharides, Pro... OMIM:256550
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Enlarged kidney, Astigmatism, Abnormal right ventricle morphology, Retinal col... ORPHA:500095
Diaphanospondylodysostosis
Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia OMIM:608022
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Enlarged kidney, Patent foramen ovale, Hypertrophic cardiomyopathy, Nephrotic synd... ORPHA:505248
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Microspherophakia, Optic nerve hypoplasia, Secundum atrial septal defect, Cataract,... OMIM:620609
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Hematuria, Iris coloboma OMIM:120433
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Retinitis Pigmentosa 9
Cataract, Bone spicule pigmentation of the retina, Macular atrophy OMIM:180104
Retinitis Pigmentosa 4
Cataract, Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy OMIM:613731
Stickler Syndrome Type 2
Retinal detachment, Corneal opacity, Cataract ORPHA:90654
Lynch Syndrome 5
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the pancreas, Ovarian neoplasm, Endomet... OMIM:614350
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Cardiac-Urogenital Syndrome
Enlarged kidney, Mesocardia, Penoscrotal hypospadias, Partial anomalous pulmonary venous return, ... OMIM:618280
Alpha-N-Acetylgalactosaminidase Deficiency
Cataract, Oligosacchariduria, Cardiomegaly ORPHA:3137
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Lynch Syndrome 4
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiomyopathy, Nephr... OMIM:130650
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Retinitis Pigmentosa 84
Cataract, Macular coloboma, Bone spicule pigmentation of the retina, Macular atrophy OMIM:618220
Microphthalmia/Coloboma 12
Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve apla... OMIM:120200
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Peters anomaly OMIM:618652
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... ORPHA:91495
Congenital Toxoplasmosis
Cardiomegaly, Abnormality of retinal pigmentation, Hepatomegaly ORPHA:858
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria, Proteinuria ORPHA:251004
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:269920
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1345
Weill-Marchesani Syndrome
Aortic valve stenosis, Pulmonic stenosis, Ectopia lentis, Cataract, Ventricular septal defect ORPHA:3449
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Corneal guttata, Snowflake vitreoretinal degeneration OMIM:193230
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme... OMIM:232200
Denys-Drash Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero... OMIM:194080
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Glomerular sclerosis, ... OMIM:276700
Kaposiform Lymphangiomatosis
Enlarged kidney, Pericardial effusion, Hepatosplenomegaly, Splenomegaly, Multiple renal cysts ORPHA:464329
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma ORPHA:615
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane, Remnants of t... OMIM:221900
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme... OMIM:232220
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Pericardial effusion, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614702
Leber Congenital Amaurosis 8
Macular coloboma, Keratoconus, Nummular pigmentation of the fundus, Cataract, Pigmentary retinopathy OMIM:613835
Papillorenal Syndrome
Hematuria, Horseshoe kidney, Retinal detachment, Macular degeneration, Lens luxation, Vesicourete... OMIM:120330
Alg9-Cdg
Atrial septal defect, Enlarged kidney, Hepatomegaly, Abnormal left ventricular outflow tract morp... ORPHA:79328
Gastrointestinal Stromal Tumor
Neurofibroma, Intestinal obstruction, Dysphagia, Gastrointestinal stroma tumor OMIM:606764
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Megalocornea, Hypertrophic cardiomyopathy, Mucopolysacchariduria, ... OMIM:252500
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Keratoconjunctivitis sicca ORPHA:79128
H Syndrome
Corneal arcus, Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly, Micropenis ORPHA:168569
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Igg4-Related Kidney Disease
Urethritis, Acute kidney injury, Enlarged kidney, Hematuria, Renal interstitial immunoglobulin de... ORPHA:449395
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation ORPHA:171844
Cardiomyopathy, Dilated, 1Ii
Cataract, Dilated cardiomyopathy OMIM:615184
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... OMIM:300280
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, E... OMIM:212140
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis OMIM:613091
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid... OMIM:609049
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage, Squamous cell carcinoma of the skin, Mel... OMIM:278700
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Combined Oxidative Phosphorylation Deficiency 33
Astigmatism, Hepatomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular hypertrophy, Card... OMIM:617713
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio... OMIM:252920
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia OMIM:200995
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Hsd10 Disease, Infantile Type
Optic atrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Retinal degeneration, Abnormal concentr... ORPHA:391428
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Transketolase Deficiency
Hepatomegaly, Increased level of ribose in urine, Patent foramen ovale, Renal cyst, Abnormal hear... ORPHA:488618
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma OMIM:216820
Peroxisome Biogenesis Disorder 10B
Cataract, Neurogenic bladder, Nephrocalcinosis OMIM:617370
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus OMIM:612651
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Nephrocalcinosis, Right atrial enlargement OMIM:614473
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis OMIM:618188
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... OMIM:115197
Leiomyomatosis, Diffuse, With Alport Syndrome
Lenticonus, Hematuria, Renal insufficiency, Nephropathy, Microscopic hematuria, Thickened glomeru... OMIM:308940
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... OMIM:231005
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... OMIM:310600
Attrv122I Amyloidosis
Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos... ORPHA:85451
Wolfram Syndrome 1
Optic atrophy, Hydroureter, Neurogenic bladder, Cardiomyopathy, Hydronephrosis, Cataract, Pigment... OMIM:222300
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Hepatomegaly, Congenital megaureter, Hypercalciuria, Vesic... ORPHA:116
Ogden Syndrome
Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Cardiomegaly,... OMIM:300855
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Lymphedema-Hypoparathyroidism Syndrome
Cataract, Nephropathy, Mitral valve prolapse, Renal insufficiency OMIM:247410
Pheochromocytoma/Paraganglioma Syndrome 4
Chemodectoma, Adrenal pheochromocytoma, Renal cell carcinoma, Gastrointestinal stroma tumor, Para... OMIM:115310
Helsmoortel-Van Der Aa Syndrome
Enlarged kidney, Astigmatism, Recurrent urinary tract infections, Enuresis nocturna, Abnormal hea... OMIM:615873
Carney-Stratakis Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Dysphagia, Pa... ORPHA:97286
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hypertrophic cardiomyopathy, Hydronephrosis, Cardiomegaly, Ventricular septal defect... OMIM:616897
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Corneal scarring, Cataract, Buphthalmos, Macular atrophy, Iris coloboma OMIM:212550
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hepatomegaly ORPHA:42
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Nephrolithiasis, Nephrocalcinosis, Pr... ORPHA:79259
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Adenocarcinoma of the large intestine, Hepatocellular carcinoma, Cho... ORPHA:171
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Bone spicule pigmentation of the retina, Glycosuria, Cataract, Stage 5 chronic kid... OMIM:268315
Timothy Syndrome
Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot OMIM:601005
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Myoglobinuria, Polycystic... ORPHA:228308
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect... ORPHA:731
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Fucosidosis
Mucopolysacchariduria, Hepatomegaly, Corneal opacity, Cardiomegaly ORPHA:349
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Glomerulonephritis ORPHA:99931
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hepatomegaly, Hypertrophic cardiomyopathy,... OMIM:201475
Hemochromatosis, Type 1
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:235200
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Stomach cancer, Neoplasm of the skin, Ovarian dermo... ORPHA:480536
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Renal tubular acidosis, Cardiomegaly, Ketonuria OMIM:255120
Pseudo-Torch Syndrome 3
Cardiomegaly, Acute kidney injury, Proteinuria OMIM:618886
Leprechaunism
Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Hypertrophic cardiomyopathy, Nephrocal... ORPHA:508
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro... ORPHA:324410
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage, Melanoma OMIM:278730
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Chromosomal breakage induced... OMIM:600901
Dent Disease
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... ORPHA:1652
Exudative Vitreoretinopathy 6
Patchy atrophy of the retinal pigment epithelium, Retinal detachment, Tractional retinal detachme... OMIM:616468
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, 3-Methylglutaconic aciduria, Cardiomyopathy, Cardiomegaly OMIM:619259
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Conjunctival icterus, Right atrial enlargement, Left ventr... ORPHA:57777
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 hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Transposition of the great arteries, Hepatomegaly, Hypospadias, Cardiomyopathy, ... OMIM:312870
Knobloch Syndrome
Dextrocardia, Retinal detachment, Macular degeneration, Vesicoureteral reflux, Ectopia lentis, Bi... ORPHA:1571
Diamond-Blackfan Anemia
Acute myeloid leukemia, Cleft soft palate, High palate, Malignant genitourinary tract tumor, Aden... ORPHA:124
Sickle Cell Disease
Hepatomegaly, Hematuria, Splenomegaly, Cardiomegaly, Renal insufficiency OMIM:603903
Mucopolysaccharidosis Type 3
Optic atrophy, Abnormal aortic valve morphology, Hepatomegaly, Cardiomegaly, Corneal opacity, Muc... ORPHA:581
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Chromosomal breakage induced... OMIM:227645
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Histiocytoid Cardiomyopathy
Optic atrophy, Hepatomegaly, Corneal opacity, Congenital aphakia, Renal cyst, Megalocornea, Cardi... ORPHA:137675
Proteus Syndrome
Enlarged kidney, Buphthalmos, Long penis, Retinal nonattachment, Enlarged polycystic ovaries, Ren... ORPHA:744
Alagille Syndrome 1
Abnormal anterior chamber morphology, Atrial septal defect, Duplicated collecting system, Renal t... OMIM:118450
Sandhoff Disease
Urinary incontinence, Hepatomegaly, Increased urinary N-acetylglucosamine-rich oligosaccharide le... OMIM:268800
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular s... OMIM:614643
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Heterochromia iridis, Anisocoria, Papilledema,... ORPHA:263479
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... ORPHA:363705
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Hypoplasia of the ... OMIM:106210
Trichothiodystrophy
Defective DNA repair after ultraviolet radiation damage, High, narrow palate, Squamous cell carci... ORPHA:33364
Fanconi Anemia, Complementation Group D2
Esophageal atresia, Deficient excision of UV-induced pyrimidine dimers in DNA, Tracheoesophageal ... OMIM:227646
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Histiocytoid cardiomyopathy, Ventricular septal defect, Chordee, Sclerocornea, Catar... OMIM:309801
Mogs-Cdg
Optic atrophy, Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, Atri... ORPHA:79330
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Urinary incontinence, Cardiomyopathy OMIM:105210
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Retinal detachment, Microcornea, Reti... OMIM:612109
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis OMIM:208000
Histiocytosis-Lymphadenopathy Plus Syndrome
Corneal arcus, Hepatomegaly, Pulmonic stenosis, Hepatosplenomegaly, Splenomegaly, Mitral valve pr... OMIM:602782
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Hydronephrosis, Cardiomegaly, Dilated cardiomyopathy, Ventricular septal defect OMIM:614921
Xfe Progeroid Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:610965
De Sanctis-Cacchione Syndrome
Defective DNA repair after ultraviolet radiation damage, Melanoma OMIM:278800
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypercalciuria, Ba... ORPHA:47159
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Oligosacch... ORPHA:308552
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly ORPHA:465508
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Developmental glaucoma, Patent foramen ovale, Mitral valve prolapse, Left ... OMIM:245600
Atelis Syndrome 2
Pulmonic stenosis, Supravalvar pulmonary stenosis, Developmental cataract, Remnants of the hyaloi... OMIM:620185
Carney Triad
Gastrointestinal hemorrhage, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Gastrointe... ORPHA:139411
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly OMIM:620306
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Pollakisuria, Right ventricular hypertrophy ORPHA:268
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Fucosidosis
Hepatomegaly, Glycopeptiduria, Splenomegaly, Cardiomegaly, Oligosacchariduria, Tortuosity of conj... OMIM:230000
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Opacification of the corneal stroma ORPHA:79280
Microphthalmia, Syndromic 2
Hypospadias, Dextrocardia, Retinal detachment, Microcornea, Remnants of the hyaloid vascular syst... OMIM:300166
Gaucher Disease, Perinatal Lethal
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:608013
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Williams Syndrome
Hypoplasia of penis, Corneal opacity, Pulmonic stenosis, Nephrocalcinosis, Multiple renal cysts, ... ORPHA:904
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Neurofibromatosis Type 1
Rhabdomyosarcoma, Multiple lipomas, Spinal neurofibroma, Chronic myelogenous leukemia, Pheochromo... ORPHA:636
Glycogen Storage Disease Ii
Cardiomegaly, Urinary incontinence, Splenomegaly, Hepatomegaly OMIM:232300
Bohring-Opitz Syndrome
Optic atrophy, Retinal atrophy, Cardiomegaly, Urinary retention, Nephroblastoma, Abnormal cardiac... ORPHA:97297
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... ORPHA:95430
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Abetalipoproteinemia
Hepatomegaly, Corneal ulceration, Abnormality of retinal pigmentation, Cardiomegaly, Keratoconjun... ORPHA:14
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Retinal detachment, Patent foramen ovale, Retinal hemorrhage, Cardiomegaly, Iris coloboma OMIM:620371
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Pulmoni... ORPHA:3384
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormality iris morphology, Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Neuroocular Syndrome
Microcornea, Stellate iris, Patent foramen ovale, Remnants of the hyaloid vascular system, Lens c... OMIM:619539
Norrie Disease
Optic atrophy, Aplasia/Hypoplasia of the lens, Retinal detachment, Corneal opacity, Remnants of t... ORPHA:649
Familial Adenomatous Polyposis 4
Gastric adenocarcinoma, Astrocytoma, Breast intraductal papilloma, Thyroid adenoma, Adenomatous c... OMIM:617100
Yunis-Varon Syndrome
Hypospadias, Cardiomegaly, Renal artery stenosis, Cardiomyopathy, Renovascular hypertension, Scle... ORPHA:3472
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... OMIM:300967
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly OMIM:618278
Full Nf2-Related Schwannomatosis
Cortical cataract, Posterior subcapsular cataract, Remnants of the hyaloid vascular system ORPHA:637
Aicardi-Goutières Syndrome
Developmental glaucoma, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly, Micropenis ORPHA:51
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Oligosacch... ORPHA:365
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Ventricular septal defect, Hepatomegaly ORPHA:96191
Liver Disease, Severe Congenital
Left atrial enlargement, Hepatomegaly, Hypospadias, Recurrent urinary tract infections, Patent fo... OMIM:619991
Common Variable Immunodeficiency
Anal atresia, Lymphoma, Gastrointestinal stroma tumor ORPHA:1572
17Q11 Microdeletion Syndrome
Rhabdomyosarcoma, Cerebellar glioma, Multiple mucosal neuromas, Pheochromocytoma, Glomus jugular ... ORPHA:97685
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Conjunctivitis, Cardiomegaly OMIM:620376
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medullary nephrocalcinosis, Retinal hemorrhage, Hyperphosphaturia, Peric... ORPHA:51608
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re... ORPHA:75565
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Punctate opacification of the cornea, Splenomegaly, Conjunctivitis, Cardiomegaly OMIM:256040
Holoprosencephaly 2
Single ventricle, Remnants of the hyaloid vascular system, Iris coloboma OMIM:157170
Acromelic Frontonasal Dysostosis
Optic nerve hypoplasia, Remnants of the hyaloid vascular system OMIM:603671
Dermatomyositis
Lymphoma, Gastrointestinal stroma tumor, Lung adenocarcinoma, Dysphagia, Breast carcinoma, Neoplasm ORPHA:221
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... 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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