Gene Summary

transformation related protein 63 regulated

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 eye morphology Tprgem1(IMPC)Mbp HOM Early adult 0.00
enlarged gallbladder Tprgem1(IMPC)Mbp HOM Early adult 0.00
abnormal gallbladder morphology Tprgem1(IMPC)Mbp HOM Early adult 0.00
microphthalmia Tprgem1(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.


XRay Images Whole Body Lateral Orientation

11 Images


XRay Images Whole Body Dorso Ventral

34 Images

Human diseases caused by Tprg mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
Matching phenotypes Source
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Decreased liver function, Cholelithiasis, Cholestasis OMIM:614156
Gallbladder Disease 1
Elevated hepatic transaminase, Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice... OMIM:600803
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis OMIM:300752
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis ORPHA:438274
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Splenomegaly OMIM:224100
Biliary Atresia, Extrahepatic
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary duct atresia,... OMIM:210500
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis OMIM:605479
Benign Recurrent Intrahepatic Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Cholelithiasis, Jaundice, Cho... ORPHA:65682
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Nanophthalmos 4
Microphthalmia OMIM:615972
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Jaundice, Cholelithiasis, Giant cell hepatitis OMIM:214980
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microphthalmia ORPHA:2432
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Jaundice, Hypersplenism, Cholelithiasis, Splenomegaly ORPHA:846
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Jaundice, Pigment gallstones, Splenomegaly, Cholecystitis OMIM:613470
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Decreased liver function, Cholelithiasis ORPHA:79278
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Erythrocytosis, Familial, 8
Jaundice, Cholecystitis, Cholelithiasis, Splenomegaly OMIM:222800
Gombo Syndrome
Microphthalmia OMIM:233270
Protoporphyria, Erythropoietic, 1
Hepatic failure, Cholelithiasis OMIM:177000
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Cholecystitis, Cholelithiasis, Splenomegaly OMIM:235700
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Splenomegaly OMIM:182900
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Cholecystitis, Cholelithiasis, Splenomegaly OMIM:266200
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Cholelithiasis ORPHA:309108
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Elevated circulating alanine aminotransferase concentration,... ORPHA:53035
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Glycogen Storage Disease Vii
Jaundice, Cholelithiasis OMIM:232800
Glycogen Storage Disease Xii
Jaundice, Splenomegaly, Cholelithiasis, Cholecystitis OMIM:611881
Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly ORPHA:848
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Cholelithiasis, Biliary hyperplasia,... ORPHA:567983
Mmep Syndrome
Cryptorchidism, Microphthalmia ORPHA:3434
Mirizzi Syndrome
Elevated hepatic transaminase, Gallbladder perforation, Cholesterol gallstones, Cholelithiasis, J... ORPHA:521219
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Microphthalmia ORPHA:35612
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Jaundice, Hepatitis, Splenomegaly OMIM:194380
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... OMIM:615710
Martinez-Frias Syndrome
Hypoplasia of the gallbladder, Pancreatic hypoplasia, Annular pancreas, Extrahepatic biliary duct... OMIM:601346
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis, Cholestasis, Hepatit... ORPHA:209902
Isolated Biliary Atresia
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Periportal fibrosis, Hypopituitari... ORPHA:30391
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Microphthalmia, Syndromic 12
Cryptorchidism, Microphthalmia, Anophthalmia OMIM:615524
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis ORPHA:79168
Beta-Thalassemia Intermedia
Cirrhosis, Hepatocellular carcinoma, Cholelithiasis, Hepatomegaly, Jaundice, Decreased liver func... ORPHA:231222
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis OMIM:160900
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Microphthalmia OMIM:614402
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cardiomegaly, Microphthalmia, Ascites ORPHA:858
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Mic... OMIM:618805
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Microphthalmia ORPHA:83461
Meckel Syndrome, Type 5
Bile duct proliferation, Microphthalmia OMIM:611561
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Jaundice, Cardiomegaly, Splenomegaly OMIM:603903
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Extr... ORPHA:97278
Primary Sclerosing Cholangitis
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Acute hepatic failure, Chroni... ORPHA:171
Congenital Bile Acid Synthesis Defect Type 4
Hepatomegaly, Cirrhosis, Biliary tract abnormality, Cholestasis ORPHA:79095
Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Cholelithiasis ORPHA:3166
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
North American Indian Childhood Cirrhosis
Prolonged neonatal jaundice, Portal hypertension, Biliary cirrhosis OMIM:604901
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:613027
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Elevated hepatic transaminase, Hepatic failure OMIM:614886
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Triosephosphate Isomerase Deficiency
Jaundice, Splenomegaly, Cholelithiasis, Cholecystitis OMIM:615512
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Extr... ORPHA:97261
Hereditary Elliptocytosis
Prolonged neonatal jaundice, Jaundice, Cholelithiasis, Splenomegaly ORPHA:288
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Hereditary Spherocytosis
Hepatomegaly, Jaundice, Cholelithiasis, Splenomegaly ORPHA:822
Sickle Cell Anemia
Pigment gallstones, Abnormality of the spleen, Cholestasis ORPHA:232
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis ORPHA:171876
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Cholelithiasis, Female hypogonadism, Asplenia, Hypoparathyroidism, Prem... OMIM:240300
Cimdag Syndrome
Hepatomegaly, Microvesicular hepatic steatosis, Cholelithiasis OMIM:619273
Meckel Syndrome, Type 2
Bile duct proliferation, Microphthalmia OMIM:603194
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Hepatomegaly, Jaundice, Microphthalmia, Splenomegaly ORPHA:290
Oculocerebrocutaneous Syndrome
Cryptorchidism, Microphthalmia, Anophthalmia OMIM:164180
Meckel Syndrome, Type 3
Hepatic fibrosis, Bile duct proliferation, Malformation of the hepatic ductal plate, Hepatomegaly OMIM:607361
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Biliary tract abnormality, Asplenia, Anophthalmia, Absent gallbladder, Splenogona... OMIM:156810
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:1414
Microphthalmia, Syndromic 8
Cryptorchidism, Microphthalmia OMIM:601349
Dubin-Johnson Syndrome
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:234
Distal Trisomy 5Q
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Steinfeld Syndrome
Absent gallbladder, Microphthalmia OMIM:184705
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Microphthalmia OMIM:601794
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Biliary tract abnormality ORPHA:3191
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Dehydrated Hereditary Stomatocytosis
Intermittent jaundice, Cholelithiasis, Splenomegaly ORPHA:3202
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hemobilia ORPHA:512
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Pierpont Syndrome
Cryptorchidism, Microphthalmia ORPHA:487825
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Microphthalmia ORPHA:363741
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis OMIM:618775
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Hepatomegaly, Hypoplastic nipples, Decreased liver function, Splenomegaly OMIM:618268
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Cofs Syndrome
Microphthalmia ORPHA:1466
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Warburg Micro Syndrome 1
Cryptorchidism, Microphthalmia OMIM:600118
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Aplasia/Hypoplasia of the iris, Optic nerve hypoplasia, Unilateral microph... ORPHA:137902
Pierpont Syndrome
Cryptorchidism, Microphthalmia OMIM:602342
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Panc... OMIM:208540
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Cholelithiasis ORPHA:464738
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Microphthalmia OMIM:612530
Hereditary Hemorrhagic Telangiectasia
Cirrhosis, Cholelithiasis, Hepatic failure, Cholecystitis, Portal hypertension ORPHA:774
Matthew-Wood Syndrome
Cryptorchidism, Abnormal spleen morphology, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of t... ORPHA:2470
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96092
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Microphthalmia OMIM:619053
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia OMIM:615113
Oculoauricular Syndrome
Macular hypoplasia, Microphakia, Microphthalmia OMIM:612109
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Cerebrotendinous Xanthomatosis
Cholelithiasis OMIM:213700
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia ORPHA:565899
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Meckel Syndrome, Type 4
Bile duct proliferation, Microphthalmia OMIM:611134
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Annular pancreas ORPHA:210122
Meckel Syndrome, Type 7
Pancreatic cysts, Biliary cirrhosis, Cholestasis, Right ventricular hypertrophy, Portal hypertens... OMIM:267010
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia OMIM:613153
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cirrhosis, Interlobular bile duct destruction, Interface hepatitis, Elevated hepatic transaminase... ORPHA:562639
Cat Eye Syndrome
Biliary atresia, Microphthalmia OMIM:115470
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Bresek Syndrome
Cryptorchidism, Decreased testicular size, Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Microphthalmia ORPHA:3186
Pentalogy Of Cantrell
Absent gallbladder, Polysplenia ORPHA:1335
Anterior Segment Dysgenesis 5
Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Microphthalmia OMIM:604229
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Intrahepatic cholestasis, Hepatosplenomegaly, Elevated hepatic transaminase, Bilobate gallbladder OMIM:607330
Microphthalmia, Syndromic 5
Cryptorchidism, Ectopic posterior pituitary, Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Porphyria, Congenital Erythropoietic
Cholelithiasis, Splenomegaly OMIM:263700
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Biliary tract obstruction, Intermittent jaundic... ORPHA:100086
Temtamy Syndrome
Microphthalmia ORPHA:1777
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Caroli Syndrome
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Chola... ORPHA:480520
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Bilateral cryptorchidism, Microphthalmia OMIM:618652
Norrie Disease
Hypoplasia of the iris, Microphthalmia OMIM:310600
Joubert Syndrome 22
Microphthalmia OMIM:615665
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Microphthalmia OMIM:617925
Fanconi Anemia, Complementation Group Q
Biliary atresia OMIM:615272
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Meckel Syndrome, Type 6
Hepatic fibrosis, Bile duct proliferation, Cystic liver disease OMIM:612284
Bohring-Opitz Syndrome
Cardiomegaly, Cholelithiasis, Annular pancreas ORPHA:97297
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Solitary Median Maxillary Central Incisor
Anterior hypopituitarism, Decreased response to growth hormone stimuation test, Microphthalmia, A... OMIM:147250
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Autosomal Dominant Keratitis
Aniridia, Bilateral microphthalmos, Macular hypoplasia, Hypoplastic iris stroma, Hypoplasia of th... ORPHA:2334
Congenital Fibrinogen Deficiency
Splenic rupture, Hemorrhagic ovarian cyst, Right ventricular hypertrophy, Microphthalmia, Left ve... ORPHA:335
Gracile Bone Dysplasia
Aniridia, Asplenia, Ascites, Microphthalmia, Hypoplastic spleen OMIM:602361
Trisomy 13
Cryptorchidism, Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia ORPHA:3378
Trisomy 8P
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Annular pancreas ORPHA:264450
Cryptorchidism, Hepatomegaly, Abnormality of the pancreas, Abnormality of the gallbladder, Aplasi... ORPHA:3376
Niemann-Pick Disease Type B
Cirrhosis, Cholelithiasis, Neoplasm of the liver, Hepatomegaly, Decreased liver function, Splenom... ORPHA:77293
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia ORPHA:556955
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cryptorchidism, Biliary hyperplasia, Cholelithiasis, Hepatomegaly, Pancreatic hypoplasia ORPHA:83617
Microphthalmia With Brain And Digit Anomalies
Cryptorchidism, Microphthalmia, Anophthalmia ORPHA:139471
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
22Q11.2 Deletion Syndrome
Cryptorchidism, Cholelithiasis, Hypoplasia of the thymus, Microphthalmia, Splenomegaly, Hypoparat... ORPHA:567
Fanconi Anemia, Complementation Group S
Microphthalmia, Ovarian neoplasm OMIM:617883
Cystic Echinococcosis
Ovarian cyst, Peritoneal abscess, Elevated hepatic transaminase, Hepatic cysts, Abnormality of th... ORPHA:400
Craniofacioskeletal Syndrome
Cryptorchidism, Absent gallbladder OMIM:300712
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Cryptorchidism, Microphthalmia, Anophthalmia ORPHA:2189
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Hepatic fibrosis, Splenomegaly, Abnormality of the spleen, Hepatosplenomegaly ORPHA:2072
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Microphthalmia, Anophthalmia ORPHA:77298
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Aplasia/Hypoplasia of the gallbladder, Biliary atresia, Anteri... ORPHA:2255
Cerebrotendinous Xanthomatosis
Prolonged neonatal jaundice, Cholelithiasis ORPHA:909
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Cryptorchidism, Microphthalmia ORPHA:228390
Baraitser-Winter Syndrome 1
Cryptorchidism, Microphthalmia OMIM:243310
Refsum Disease
Microphthalmia, Splenomegaly ORPHA:773
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Absent gallbladder ORPHA:163979
Adams-Oliver Syndrome
Cirrhosis, Congenital hepatic fibrosis, Ascites, Microphthalmia, Portal hypertension ORPHA:974
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Seckel Syndrome 2
Microphthalmia OMIM:606744
Monosomy 18P
Microphthalmia ORPHA:1598
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microphthalmia OMIM:152950
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Warburg Micro Syndrome 4
Cryptorchidism, Decreased testicular size, Microphthalmia OMIM:615663
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Pancreatic cysts, Periportal fibrosis, Biliary hyperplasia, Cholestasis, Hepatic... ORPHA:731
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Moebius Syndrome
Decreased testicular size, Microphthalmia OMIM:157900
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microphthalmia, Decreased response to growth hormone stimuation test OMIM:609053
Rere-Related Neurodevelopmental Syndrome
Cryptorchidism, Microphthalmia ORPHA:494344
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Microphthalmia, Syndromic 3
Cryptorchidism, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:206900
Opitz Gbbb Syndrome, Type Ii
Cryptorchidism, Absent gallbladder OMIM:145410
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Cholelithiasis, Testicular atrophy, Ovarian carcinoma, Secondary h... ORPHA:273
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Skin Creases, Congenital Symmetric Circumferential, 2
Cryptorchidism, Microphthalmia OMIM:616734
Joubert Syndrome 14
Microphthalmia OMIM:614424
Trisomy 10P
Absent gallbladder ORPHA:171929
Primary Biliary Cholangitis
Cirrhosis, Hepatocellular carcinoma, Biliary cirrhosis, Hepatic fibrosis, Jaundice, Hepatitis, As... ORPHA:186
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Warburg Micro Syndrome 3
Decreased testicular size, Microphthalmia OMIM:614222
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Micronodular cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatome... OMIM:203700
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Rodrigues Blindness
Microphthalmia OMIM:268320
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatic cysts, Intrahepatic cholestasis with episodic jaundice, Ne... ORPHA:100085
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Abnormality of the gallbladder, Enlarged polycystic ovaries, Pancreatic a... ORPHA:2869
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Microphthalmia OMIM:120200
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cryptorchidism, Microphthalmia ORPHA:2728
Spondyloepiphyseal Dysplasia, Nishimura Type
Microphthalmia ORPHA:163649
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Marden-Walker Syndrome
Cryptorchidism, Microphthalmia OMIM:248700
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Multiple Benign Circumferential Skin Creases On Limbs
Cryptorchidism, Microphthalmia ORPHA:2505
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Ritscher-Schinzel Syndrome 3
Cryptorchidism, Microphthalmia OMIM:619135
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Warburg Micro Syndrome 2
Cryptorchidism, Microphthalmia OMIM:614225
Digeorge Syndrome
Parathyroid agenesis, Cholelithiasis, Parathyroid hypoplasia OMIM:188400
Walker-Warburg Syndrome
Cryptorchidism, Microphthalmia, Anophthalmia ORPHA:899
Zttk Syndrome
Absent gallbladder OMIM:617140
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder ORPHA:349
Genitopalatocardiac Syndrome
Cryptorchidism, Abnormality of mesentery morphology, Abnormality of the gallbladder ORPHA:2075
Microphthalmia OMIM:193220
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Septo-optic dysplasia, Microphthalmia ORPHA:3301
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia OMIM:600001
Martsolf Syndrome 1
Cryptorchidism, Microphthalmia OMIM:212720
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Cryptorchidism, Microphthalmia OMIM:613001
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cryptorchidism, Microphthalmia ORPHA:404440
Skin Creases, Congenital Symmetric Circumferential, 1
Hypoplastic nipples, Microphthalmia OMIM:156610
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Williams Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the iris, Cholelithiasis, Polycystic ovaries, Cardiomegaly ORPHA:904
Meckel Syndrome
Cryptorchidism, Accessory spleen, Pancreatic cysts, Aplasia/Hypoplasia of the iris, Pancreatic fi... ORPHA:564
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Bilateral microphthalmos OMIM:600122
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Left ventricular hypertrophy, Microphthalmia OMIM:619148
Metachromatic Leukodystrophy, Adult Form
Neoplasm of the gallbladder, Cholecystitis ORPHA:309271
Kapur-Toriello Syndrome
Cryptorchidism, Microphthalmia OMIM:244300
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Micro Syndrome
Cryptorchidism, Microphthalmia ORPHA:2510
Mosaic Trisomy 9
Abnormal liver lobulation, Cryptorchidism, Asplenia, Microphthalmia ORPHA:99776
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Tetrasomy 9P
Cryptorchidism, Jaundice, Biliary atresia, Absent gallbladder ORPHA:3310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Bilateral microphthalmos ORPHA:369891
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Microphthalmia OMIM:600123
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder ORPHA:96176
Peters-Plus Syndrome
Cryptorchidism, Biliary tract abnormality, Bilobate gallbladder OMIM:261540
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Mosaic Trisomy 1
Hepatic agenesis, Microphthalmia ORPHA:1692
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Decreased liver functio... OMIM:613658
Fanconi Anemia, Complementation Group L
Microphthalmia OMIM:614083
Familial Adenomatous Polyposis
Goiter, Biliary tract obstruction, Pancreatitis, Neoplasm of the gallbladder, Pancreatic adenocar... ORPHA:733
Phace Association
Lingual thyroid, Optic nerve hypoplasia, Microphthalmia OMIM:606519
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Polycystic liver disease, Pancreatic fibrosis, Hepatic fibrosis, Jaundice, Bile... OMIM:208500
Papillorenal Syndrome
Microphthalmia OMIM:120330
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Increased circulating gonadotropin level, Microphthalmia OMIM:110100
Microphthalmia, Hypopituitarism ORPHA:391474
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Incontinentia Pigmenti
Breast hypoplasia, Breast aplasia, Hypoplastic nipples, Microphthalmia, Hypoplasia of the fovea, ... OMIM:308300
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Fetal ascites, Cholestasis, Hepatomegaly, Splen... OMIM:261515
8Q21.11 Microdeletion Syndrome
Cryptorchidism, Microphthalmia ORPHA:284160
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Polysplenia, Biliary cirrhosis, Cholestasis, Hepatomegaly, Cholang... OMIM:613610
Biliary Malformation With Renal Tubular Insufficiency
Jaundice, Biliary hyperplasia OMIM:210550
Hallermann-Streiff Syndrome
Cryptorchidism, Microphthalmia OMIM:234100
Fanconi Anemia, Complementation Group F
Cryptorchidism, Microphthalmia, Decreased response to growth hormone stimuation test OMIM:603467
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Pseudotrisomy 13 Syndrome
Cryptorchidism, Microphthalmia OMIM:264480
Joubert Syndrome 2
Microphthalmia OMIM:608091
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Optic nerve hypoplasia ORPHA:500150
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cryptorchidism, Microphthalmia, Anophthalmia ORPHA:2250
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Meckel Syndrome, Type 1
Cryptorchidism, Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Microphthal... OMIM:249000
Jacobsen Syndrome
Macular hypoplasia, Cryptorchidism, Microphthalmia, Annular pancreas OMIM:147791
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Vacterl With Hydrocephalus
Cryptorchidism, Microphthalmia, Anophthalmia ORPHA:3412
Histiocytoid Cardiomyopathy
Congenital aphakia, Polycystic ovaries, Hepatomegaly, Cardiomegaly, Microphthalmia ORPHA:137675
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Supernumerary nipple, Microphthalmia ORPHA:1236
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Vacterl/Vater Association
Cryptorchidism, Abnormality of the pancreas, Abnormality of the gallbladder ORPHA:887
Cohen Syndrome
Cryptorchidism, Microphthalmia ORPHA:193
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Fanconi Anemia, Complementation Group E
Cryptorchidism, Microphthalmia OMIM:600901
Holoprosencephaly 9
Cryptorchidism, Panhypopituitarism, Anterior pituitary agenesis, Anterior pituitary hypoplasia, O... OMIM:610829
Fanconi Anemia, Complementation Group A
Cryptorchidism, Microphthalmia OMIM:227650
Stromme Syndrome
Accessory spleen, Optic nerve hypoplasia, Microphthalmia OMIM:243605
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Phthisis bulbi, Microphthalmia OMIM:221900
Subaortic Stenosis--Short Stature Syndrome
Microphthalmia OMIM:271960
Fryns Syndrome
Cryptorchidism, Microphthalmia ORPHA:2059
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Microphthalmia OMIM:616300
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Pallister-Hall Syndrome
Cryptorchidism, Panhypopituitarism, Microphthalmia, Decreased testicular size, Thyroid dysgenesis... OMIM:146510
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Dubowitz Syndrome
Hypoplasia of the iris, Cryptorchidism, Microphthalmia OMIM:223370
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Cryptorchidism, Optic nerve hypoplasia, Microphthalmia OMIM:236670
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Focal Dermal Hypoplasia
Hypoplasia of the iris, Acute hepatic failure, Microphthalmia ORPHA:2092
Microphthalmia, Syndromic 9
Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Anophthalmia, Hypoplastic spleen OMIM:601186
Cryptorchidism, Panhypopituitarism, Microphthalmia, Anophthalmia, Abnormality of the spleen, Ante... ORPHA:2162
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Linear Nevus Sebaceus Syndrome
Microphthalmia, Adenoma sebaceum ORPHA:2612
Fanconi Anemia, Complementation Group C
Cryptorchidism, Microphthalmia OMIM:227645
Cockayne Syndrome B
Cryptorchidism, Hypoplasia of the iris, Hepatomegaly, Microphthalmia, Splenomegaly OMIM:133540
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Microphthalmia, Annular pancreas OMIM:268400
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Cousin Syndrome
Microphthalmia OMIM:260660
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Microphthalmia OMIM:607323
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Abnormality of the spleen, Microphthalmia, Anophthalmia ORPHA:2538
Trisomy 18
Cryptorchidism, Microphthalmia ORPHA:3380
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Microphthalmia OMIM:127000
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Microphthalmia, Annular pancreas OMIM:227646
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Hallermann-Streiff Syndrome
Cryptorchidism, Abdominal situs inversus, Microphthalmia ORPHA:2108
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia OMIM:251300
Basal Cell Nevus Syndrome
Ovarian fibroma, Microphthalmia, Ovarian carcinoma OMIM:109400
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Microphthalmia, Splenomegaly ORPHA:90324
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Microphthalmia, Lenz Type
Cryptorchidism, Microphthalmia ORPHA:568
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cryptorchidism, Microphthalmia, Annular pancreas OMIM:616975
Isolated Arrhinia
Microphthalmia ORPHA:1134
Monosomy 9Q22.3
Ovarian fibroma, Microphthalmia ORPHA:77301
Incontinentia Pigmenti
Supernumerary nipple, Microphthalmia ORPHA:464
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Microphthalmia ORPHA:250989
Phace Syndrome
Ectopic thyroid, Optic nerve hypoplasia, Microphthalmia, Lens coloboma ORPHA:42775
Treacher-Collins Syndrome
Hypoplasia of the thymus, Cryptorchidism, Microphthalmia, Thyroid hypoplasia ORPHA:861
Fanconi Anemia
Cryptorchidism, Absent testis, Abnormal testis morphology, Aplasia/Hypoplasia of the iris, Microp... ORPHA:84
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Exocrine pancreatic insufficiency, Optic nerve hypoplasia, Microphthalmia ORPHA:508498
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Microphthalmia, Thyroid hypoplasia ORPHA:2166
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos ORPHA:2839
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Aicardi Syndrome
Microphthalmia, Hepatoblastoma ORPHA:50
Holoprosencephaly 2
Anterior pituitary agenesis, Microphthalmia OMIM:157170
Bosma Arhinia Microphthalmia Syndrome
Cryptorchidism, Microphthalmia OMIM:603457
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Mosaic Variegated Aneuploidy Syndrome
Ascites, Microphthalmia ORPHA:1052
Aicardi Syndrome
Microphthalmia, Hepatoblastoma OMIM:304050
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis, Microphthalmia OMIM:273395
Hemifacial Microsomia
Microphthalmia, Anophthalmia OMIM:164210
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Cockayne Syndrome
Cryptorchidism, Elevated hepatic transaminase, Hepatomegaly, Microphthalmia, Splenomegaly ORPHA:191
Mend Syndrome
Cryptorchidism, Microphthalmia ORPHA:401973
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Combined Immunodeficiency-Enteropathy Spectrum
Hypoplasia of the thymus, Peritoneal abscess, Abnormality of the ductus choledochus, Hepatitis ORPHA:436252
Cryptorchidism, Bilateral microphthalmos ORPHA:33364
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microphthalmia ORPHA:959
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Fryns Syndrome
Ectopic pancreatic tissue, Cryptorchidism, Polysplenia, Microphthalmia OMIM:229850
Monosomy 9P
Cryptorchidism, Microphthalmia ORPHA:261112
Bartsocas-Papas Syndrome 1
Bilateral cryptorchidism, Microphthalmia OMIM:263650
2Q31.1 Microdeletion Syndrome
Cryptorchidism, Microphthalmia ORPHA:251014
Myhre Syndrome
Cryptorchidism, Microphthalmia OMIM:139210
Microphthalmia With Limb Anomalies
Cryptorchidism, True anophthalmia, Microphthalmia ORPHA:1106
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Hyperparathyroidism, Microphthalmia, Cryptorchidism ORPHA:534
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Abnormal testis morphology, Anophthalmia ORPHA:2556
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia OMIM:309801
Enlargement of parotid gland, Abnormal biliary tract morphology ORPHA:252183
Roberts Syndrome
Cryptorchidism, Microphthalmia ORPHA:3103
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Fontaine Progeroid Syndrome
Cryptorchidism, Absent nipple, Hypoplastic nipples, Left ventricular hypertrophy, Microphthalmia OMIM:612289
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cryptorchidism, Optic nerve hypoplasia, Bilateral microphthalmos ORPHA:468631
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Cryptorchidism, Microphthalmia OMIM:609945
Focal Dermal Hypoplasia
Aniridia, Cryptorchidism, Hypoplastic nipples, Microphthalmia, Anophthalmia, Supernumerary nipple OMIM:305600
Holoprosencephaly 7
Panhypopituitarism, Bilateral microphthalmos OMIM:610828
Charge Syndrome
Anterior hypopituitarism, Cryptorchidism, Microphthalmia, Anophthalmia ORPHA:138
Witteveen-Kolk Syndrome
Cryptorchidism, Microphthalmia, Decreased response to growth hormone stimuation test OMIM:613406
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Buphthalmos, Microphthalmia OMIM:253280
Autosomal Dominant Kenny-Caffey Syndrome
Decreased testicular size, Congenital hypoparathyroidism, Bilateral microphthalmos ORPHA:93325
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Aplasia/Hypoplasia affecting the eye, Abnormality of the gallbladder ORPHA:818
Yunis-Varon Syndrome
Bilateral microphthalmos, Cryptorchidism, Microphthalmia, Cardiomegaly ORPHA:3472
Microphthalmia, Syndromic 2
Cryptorchidism, Phthisis bulbi, Microphthalmia, Anophthalmia OMIM:300166
Renpenning Syndrome 1
Decreased testicular size, Microphthalmia OMIM:309500
Adams-Oliver Syndrome 1
Supernumerary nipple, Microphthalmia OMIM:100300
Wolf-Hirschhorn Syndrome
Cryptorchidism, Abdominal situs inversus, Abnormality of the gallbladder ORPHA:280
Treacher Collins Syndrome 1
Cryptorchidism, Abnormal parotid gland morphology, Bilateral microphthalmos OMIM:154500
Monosomy 13Q14
Microphthalmia ORPHA:1587
Fraser Syndrome
Cryptorchidism, Microphthalmia, Anophthalmia ORPHA:2052
Hydrolethalus Syndrome 1
Accessory spleen, Microphthalmia, Adrenal gland dysgenesis OMIM:236680
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Charge Syndrome
Cryptorchidism, Decreased response to growth hormone stimuation test, Microphthalmia, Parathyroid... OMIM:214800
Neu-Laxova Syndrome 1
Cryptorchidism, Microphthalmia OMIM:256520
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Roberts-Sc Phocomelia Syndrome
Cryptorchidism, Accessory spleen, Microphthalmia, Biliary tract abnormality OMIM:268300
Pallister-Hall Syndrome
Cryptorchidism, Panhypopituitarism, Pituitary hypothyroidism, Hypopituitarism, Adrenocorticotropi... ORPHA:672
Branchiooculofacial Syndrome
Cryptorchidism, Microphthalmia, Anophthalmia, Supernumerary nipple, Duplication of internal organs OMIM:113620
Norrie Disease
Hypoplasia of the iris, Cryptorchidism, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:649
Microphthalmia, Syndromic 6
Cryptorchidism, Female hypogonadism, Microphthalmia, Anophthalmia, Anterior hypopituitarism OMIM:607932
Fraser Syndrome 1
Cryptorchidism, Bilateral microphthalmos, Anophthalmia OMIM:219000
Lowe Oculocerebrorenal Syndrome
Cryptorchidism, Microphthalmia OMIM:309000
Mowat-Wilson Syndrome
Cryptorchidism, Supernumerary nipple, Microphthalmia OMIM:235730
Townes-Brocks Syndrome
Cryptorchidism, Microphthalmia ORPHA:857
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cryptorchidism, Hydrocele testis, Asplenia, Microphthalmia ORPHA:261537
Mowat-Wilson Syndrome
Cryptorchidism, Hydrocele testis, Asplenia, Microphthalmia ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cryptorchidism, Hydrocele testis, Asplenia, Microphthalmia ORPHA:261552
Holoprosencephaly 1
Microphthalmia OMIM:236100
Microphthalmia, Syndromic 1
Cryptorchidism, Microphthalmia, Anophthalmia OMIM:309800
8Q24.3 Microdeletion Syndrome
Exocrine pancreatic insufficiency, Optic nerve hypoplasia, Bilateral microphthalmos, Ectopic post... ORPHA:508488


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 Tprg

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 Tprg.

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

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MGI Allele Allele Type Produced
Tprgtm41872(L1L2_Bact_P) Targeting vectors
Tprgtm41872(L1L2_gt0) Targeting vectors
Tprgem1(IMPC)Mbp Exon Deletion Mice
Tprgtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tprgtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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