Gene Summary

Name:
glycerophosphodiester phosphodiesterase 1
Synonyms:
MIR16,  1200003M13Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
increased vertical activity Gde1tm1b(EUCOMM)Hmgu HET Early adult 5.20×10-05
increased circulating alkaline phosphatase level Gde1tm1b(EUCOMM)Hmgu HET Early adult 6.32×10-05
abnormal lens morphology Gde1tm1b(EUCOMM)Hmgu HET Early adult 4.96×10-10
abnormal behavior Gde1tm1b(EUCOMM)Hmgu HET Early adult 1.54×10-17
decreased startle reflex Gde1tm1b(EUCOMM)Hmgu HOM   Early adult 2.26×10-06
abnormal gait Gde1tm1b(EUCOMM)Hmgu HOM Early adult 7.13×10-05
increased circulating cholesterol level Gde1tm1b(EUCOMM)Hmgu HET Early adult 5.32×10-06
decreased vertical activity Gde1tm1b(EUCOMM)Hmgu HOM   Early adult 1.21×10-05
preweaning lethality, incomplete penetrance Gde1tm1b(EUCOMM)Hmgu HOM   Early adult 0.0194
prolonged QRS complex duration Gde1tm1b(EUCOMM)Hmgu HET Early adult 2.87×10-08
abnormal retina morphology Gde1tm1b(EUCOMM)Hmgu HET   Early adult 8.38×10-05
cataract Gde1tm1b(EUCOMM)Hmgu HET Early adult 1.25×10-09
abnormal behavior Gde1tm1b(EUCOMM)Hmgu HOM Early adult 7.36×10-06
decreased mean corpuscular volume Gde1tm1b(EUCOMM)Hmgu HET   Early adult 7.06×10-05

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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 Lateral Orientation

17 Images

Electrocardiogram (ECG)

Waveform Image

42 Images

X-ray

XRay Images Whole Body Dorso Ventral

18 Images

Human diseases caused by Gde1 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 Gde1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hydroxyacyl Glutathione Hydrolase Deficiency
Glyoxalase deficiency OMIM:614033
Lactate Dehydrogenase B Deficiency
Reduced lactate dehydrogenase B level OMIM:614128
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal enzyme/coenzyme activity OMIM:125460
Alcohol Sensitivity, Acute
Reduced acetaldehyde dehydrogenase level OMIM:610251
Acatalasemia
Reduced catalase level OMIM:614097
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension, Hypercholesterolemia OMIM:608320
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Reduced glutathione synthetase level, Glyoxalase deficiency OMIM:231900
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Cataract ORPHA:1397
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Juvenile cataract, Arrhythmia OMIM:212500
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Coronary Artery Disease, Autosomal Dominant 2
Hypertension, Hyperlipidemia, Myocardial infarction, Hypercholesterolemia, Hypertriglyceridemia, ... OMIM:610947
Nathalie Syndrome
Arrhythmia, Cataract ORPHA:2663
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Cataract ORPHA:254704
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Aniridia 3
Cataract OMIM:617142
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Limb ataxia, Cataract OMIM:617133
Wagner Vitreoretinopathy
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
Progressive Familial Heart Block, Type Ia
Syncope, Complete heart block with broad QRS complexes, Left anterior fascicular block, Right bun... OMIM:113900
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Attenuation of ret... ORPHA:179
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Lipodystrophy, Familial Partial, Type 7
Developmental cataract, Orthostatic hypotension, Dysmetria, Hypercholesterolemia, Hypertriglyceri... OMIM:606721
Galactosemia Iv
Hypergalactosemia, Cataract OMIM:618881
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia OMIM:618660
Morbid Obesity And Spermatogenic Failure
Hypertension, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, M... OMIM:615703
Dysequilibrium Syndrome
Gait disturbance, Ataxia, Cataract ORPHA:1766
Hepatic Lipase Deficiency
Corneal arcus, Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentratio... OMIM:614025
Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-activating factor acetylhydrolase deficiency OMIM:614278
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Bardet-Biedl Syndrome 18
Retinal dystrophy, Cataract, Rod-cone dystrophy OMIM:615995
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia OMIM:607250
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Attention deficit hyperactivity disorder OMIM:301033
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Galactosemia Ii
Hypergalactosemia, Cataract OMIM:230200
Morm Syndrome
Hyperactivity, Retinal dystrophy, Cataract, Retinal atrophy ORPHA:75858
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Cataract OMIM:610156
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Cataract, Chorior... OMIM:616468
Retinitis Pigmentosa 84
Macular coloboma, Macular atrophy, Cataract, Rod-cone dystrophy OMIM:618220
Coats Disease
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... ORPHA:190
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Abnormal circulating lipid concentration, Macular dyst... ORPHA:225
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Spastic Paraparesis-Deafness Syndrome
Gait disturbance, Ataxia, Cataract ORPHA:2815
Nathalie Syndrome
Abnormal EKG, Cataract OMIM:255990
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Distal Myopathy, Tateyama Type
Palpitations, Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Incessant Infant Ventricular Tachycardia
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... ORPHA:45453
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy, Rod-cone dystrophy, Ataxia, Cataract, Elevated levels of phytanic acid OMIM:614879
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Optic atrophy, Cataract, Retinal dysplasia OMIM:613154
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Retinal detachment, Ca... OMIM:212550
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, Retinopathy ORPHA:90654
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia ORPHA:94124
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Left ventricular syst... ORPHA:206559
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cata... OMIM:180104
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Familial Dilated Cardiomyopathy
Abnormal circulating creatine kinase concentration, Reduced ejection fraction, Atrial fibrillatio... ORPHA:217607
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Familial Progressive Cardiac Conduction Defect
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia ORPHA:871
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... OMIM:616000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Elevated circulating creatine kinase concentration, Right bundle branch block OMIM:613158
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Elevated circulating creatine kinase concentration, Cataract OMIM:609115
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Retinal deta... OMIM:610202
Trichomegaly
Cataract OMIM:190330
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... OMIM:193230
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbilirubinemia, Splen... OMIM:616689
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Elevated circulating creatine kinase concentration, Gait disturbance, Tip-toe gait, Cataract OMIM:617404
Retinitis Pigmentosa 37
Pigmentary retinopathy, Cataract, Cystoid macular degeneration, Rod-cone dystrophy OMIM:611131
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cardiomyopathy, Cataract OMIM:225740
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Cataract, Macular degeneration, Peripapillary atrophy OMIM:618195
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Cataract, Retinopathy, Microcornea OMIM:616171
Microphthalmia, Isolated 5
Foveoschisis, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina, Rod-cone dystro... OMIM:611040
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Decr... OMIM:616828
Ceroid Lipofuscinosis, Neuronal, 3
Concentric hypertrophic cardiomyopathy, Optic atrophy, Vacuolated lymphocytes, Rod-cone dystrophy... OMIM:204200
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Corneal arcus, Abnormal LDL cholesterol concentration OMIM:603776
Retinitis Pigmentosa 2
Pigmentary retinopathy, Cataract, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312600
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Acanthocytosis, Rod-cone dystrophy, Ataxia, Decreased LDL cholesterol conce... OMIM:615558
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Elevated circulating creatine kinase concentration, Ataxia, Unsteady gait, Right bundle branch block OMIM:616479
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Retinal dystrophy, Choriore... OMIM:251270
Brugada Syndrome 1
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... OMIM:601144
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus, Hypercholesterolemia OMIM:144010
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Cataract OMIM:273680
Galactokinase Deficiency
Nuclear cataract, Hypergalactosemia, Hypercholesterolemia, Hepatosplenomegaly, Cataract, Increase... ORPHA:79237
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy OMIM:204100
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... ORPHA:99105
Leber Congenital Amaurosis 1
Hyperthreoninemia, Cataract, Fundus atrophy, Pigmentary retinopathy, Keratoconus OMIM:204000
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Hypercholesterolemia, Ataxia, Truncal ataxia, Hypoalbuminemia, Limb ataxia, Gait ataxia OMIM:208920
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Retinal detachment, ... ORPHA:1473
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... OMIM:210250
Norrie Disease
Optic atrophy, Retinal fold, Shallow anterior chamber, Hypoplasia of the iris, Retinal dysplasia,... OMIM:310600
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... OMIM:605814
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation OMIM:614292
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... OMIM:614954
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Melena, Anis... ORPHA:98870
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... OMIM:613243
Hemochromatosis, Type 4
Anemia, Cardiomyopathy, Elevated transferrin saturation, Increased circulating ferritin concentra... OMIM:606069
Senior-Loken Syndrome
Hypertension, Abnormality of retinal pigmentation, Retinal dystrophy, Ataxia, Cataract ORPHA:3156
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Familial Pseudohyperkalemia
Hyperkalemia, Hypertension, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic... ORPHA:90044
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Gastrointestinal hemorrhage, Hepatosplenome... ORPHA:247598
Brugada Syndrome 2
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Microcytic anemia, Cataract, Broad-based gait, Hypoalbuminemia, Reduced s... OMIM:618805
Ectopia Lentis Et Pupillae
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Lipodystrophy, Congenital Generalized, Type 3
Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Apolipoprotein C-Ii Deficiency
Lipemia retinalis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulatin... OMIM:207750
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block OMIM:192605
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Ataxia, Xanthelasma, Hypertriglyce... OMIM:277460
Exudative Vitreoretinopathy 4
Tractional retinal detachment, Exudative vitreoretinopathy, Peripheral retinal avascularization, ... OMIM:601813
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Elevated circulating creatine kinase concentration, Cardiomyopathy, Cataract OMIM:615352
Myopathy, Myofibrillar, 2
Hypertrophic cardiomyopathy, Cataract, Elevated circulating creatine kinase concentration OMIM:608810
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Keratoconus OMIM:613835
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Refsum Disease, Classic
Retinal degeneration, Cardiomyopathy, Rod-cone dystrophy, Ataxia, Congestive heart failure, Catar... OMIM:266500
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract, Rod-cone dystrophy OMIM:619082
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly ORPHA:75234
Gyrate Atrophy Of Choroid And Retina
Chorioretinal degeneration, Subcapsular cataract, Cataract, Chorioretinal atrophy, Hyperornithine... ORPHA:414
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Dystonia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercholesterolemi... ORPHA:64753
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... ORPHA:2334
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Developmental cataract, Cataract, Decreased circulating ceruloplasmin concentration OMIM:614482
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, Leukocytosis, ST segment depression, Prolonged QTc in... ORPHA:90065
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy OMIM:309930
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Hypomethioninemia, Dystonia, Methylmalonic acidemia, Increased mean corpuscu... OMIM:277410
Lissencephaly 8
Elevated circulating creatine kinase concentration, Optic atrophy, Cataract OMIM:617255
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Cataract, Hyperalaninemia OMIM:617228
Smith-Magenis Syndrome
Hypercholesterolemia, Hyperactivity, Retinal detachment, Hypertriglyceridemia OMIM:182290
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Heart-Hand Syndrome Type 3
Sick sinus syndrome, Bundle branch block ORPHA:1342
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... OMIM:600858
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Phenylketonuria
Blue irides, Hyperphenylalaninemia, Attention deficit hyperactivity disorder, Hyperactivity, Cata... OMIM:261600
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Cataract, Pulmonary embolism... ORPHA:1345
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract OMIM:600886
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Abnormal circulating creatine kinase concentration, Waddling gait, Cataract, Truncal ataxia, Diff... ORPHA:369840
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc coloboma ORPHA:35737
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysmetria, Dysdiadochokinesis, Cataract, Truncal ataxia, Broad-based gait, Gait ataxia OMIM:224050
Infantile Refsum Disease
Optic atrophy, Cardiomyopathy, Rod-cone dystrophy, Ataxia, Cataract, Elevated levels of phytanic ... ORPHA:772
Lysosomal Acid Lipase Deficiency
Decreased HDL cholesterol concentration, Leukopenia, Increased LDL cholesterol concentration, Bon... OMIM:278000
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Dysmetria, Retinal dystrophy, Ataxia, Cataract OMIM:614877
Megalocornea-Intellectual Disability Syndrome
Hypoplasia of the iris, Iridodonesis, Hypercholesterolemia, Ataxia, Megalocornea, Astigmatism, Ab... ORPHA:2479
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle branch bloc... OMIM:618920
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Pellagra-Like Syndrome
Ataxia, Cataract OMIM:260650
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Hypertension, Myocarditis, Abnormal T-wave, Re... ORPHA:563
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy ORPHA:1369
Brugada Syndrome 5
Ventricular fibrillation, ST segment elevation, Bundle branch block OMIM:612838
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... ORPHA:247585
Isolated Aniridia
Aniridia, Cataract, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Optic atrophy, Retinal fold, Myopic astigmatism, Chorioretinal dysplasia, Chorioretinal lacunae, ... OMIM:152950
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Cortical cataract, Retinal pigment ep... OMIM:618613
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Elevated circulating creatine kinase concentration, Loss of ability to walk, Right bundle branch ... ORPHA:254361
Cardiomyopathy, Familial Hypertrophic, 16
Ventricular tachycardia, Asymmetric septal hypertrophy, Atrial fibrillation, Left bundle branch b... OMIM:613838
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Bundle branch block OMIM:615616
Loeffler Endocarditis
Pericarditis, Mitral regurgitation, Palpitations, Aortic regurgitation, Restrictive cardiomyopath... ORPHA:75566
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Iris hypopigmentation, Cataract, Thrombocytopenia ORPHA:67048
Intermediate Uveitis
Vitreous floaters, Macular edema, Optic neuritis, Vitreous snowballs, Vasculitis, Posterior synec... ORPHA:279914
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Splenomegaly, Ataxia, Inability to walk, Cataract, Hemolytic anemia OMIM:608885
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Lens subluxation, Microphakia, Retinal detachment, Cataract ORPHA:171844
Abetalipoproteinemia
Retinal degeneration, Acanthocytosis, Abetalipoproteinemia, Ataxia, Retinopathy OMIM:200100
Leber Congenital Amaurosis
Keratoconus, Abnormality of the optic disc, Abnormality of retinal pigmentation, Cataract ORPHA:65
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Dysmetria, Progressive gait ataxia, Macular degeneration, Tortuosity of conjunctival vessels, Pro... ORPHA:284289
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Elevated circulating creatine kinase concentration, Retinal detachment, Optic nerve hypoplasia, C... OMIM:615181
Hyperlipoproteinemia, Type I
Hyperlipidemia, Lipemia retinalis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosp... OMIM:238600
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Cog4-Cdg
Hypercholesterolemia, Ataxia, Hepatosplenomegaly, Thrombocytopenia ORPHA:263501
Smith-Magenis Syndrome
Gait disturbance, Hypercholesterolemia, Attention deficit hyperactivity disorder, Retinal detachm... ORPHA:819
Tropical Endomyocardial Fibrosis
Splenomegaly, Abnormal EKG, Eosinophilia, Abnormal P wave, Reduced ejection fraction, Mitral regu... ORPHA:75565
Gaisböck Syndrome
Hypertension, Hyperproteinemia, Elevated diastolic blood pressure, Increased red blood cell count... ORPHA:90041
Dwarfism With Stiff Joints And Ocular Abnormalities
Retinal detachment, Cataract OMIM:127200
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cataract ORPHA:3233
Megalocornea-Mental Retardation Syndrome
Hypoplasia of the iris, Iridodonesis, Hypercholesterolemia, Ataxia, Megalocornea OMIM:249310
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hypertension, Hypertrophic cardiomyopathy, Sinus bradycard... ORPHA:439232
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Elevated circulating creatine kinase concentration, Retinal detachment, Corneal opacity, Cataract OMIM:613153
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract, Hypochromic anemia OMIM:257790
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Atrioventricular block, Left bundle branch block, Transient... OMIM:115197
Dysbetalipoproteinemia
Corneal arcus, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, ... ORPHA:412
Galactose Mutarotase Deficiency
Hypergalactosemia, Cataract ORPHA:570422
Methylcobalamin Deficiency Type Cble
Hypertension, Hypomethioninemia, Hyperhomocystinemia, Neutropenia, Macrocytic anemia, Increased m... ORPHA:2169
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Retinal thinning, Asteroid hyalosis OMIM:132450
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... ORPHA:85451
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Iris coloboma, Retinopathy, Cataract, Abnormal cornea morphology, Aplasia/Hypop... ORPHA:2611
Spastic Paraplegia 26, Autosomal Recessive
Dystonia, Dysmetria, Spastic gait, Ataxia, Tip-toe gait, Cataract, Difficulty walking OMIM:609195
Congenital Primary Aphakia
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, R... ORPHA:83461
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Ventricular tachycardia, Cardiomyopathy, Right bundle branch block, ST segment elev... ORPHA:263297
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Pulmonary embolism, Hypertriglyce... ORPHA:567548
Cataract 47
Microcornea, Cataract OMIM:612018
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis ORPHA:1068
Autosomal Recessive Stickler Syndrome
Vitreoretinopathy, Astigmatism, Retinal detachment, Cataract ORPHA:250984
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Optic atrophy, Mitral regurgitation, Dysmetria, Tricuspid regurgitation, Ataxia, Inability to wal... OMIM:619576
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Elevated circulating creatine kinase concentration, Cataract OMIM:615704
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Muscle-Eye-Brain Disease
Elevated circulating creatine kinase concentration, Optic atrophy, Gait disturbance, Cataract ORPHA:588
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Low pulse pressure, Hypercholesterolemia, Hypoalbuminemia, Incre... ORPHA:86816
Histiocytoid Cardiomyopathy
Optic atrophy, Atrial fibrillation, Ventricular tachycardia, Congenital aphakia, Atrioventricular... ORPHA:137675
Fabry Disease
Hypertrophic cardiomyopathy, Optic atrophy, Hypertension, Mitral regurgitation, Hyperlipidemia, A... ORPHA:324
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Elevated circulating creatine kinase concentration, Prolonged QT interval, Cataract OMIM:615351
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Usher Syndrome Type 3
Astigmatism, Iris hypopigmentation, Ataxia, Cataract ORPHA:231183
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Optic atrophy, Gait disturbance, Retinal dysplasia, Cataract ORPHA:272
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Prolonged QT interval, Ventricular arrhythmia, Hypocalcemic seizures, Laryng... ORPHA:36913
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, Atrial fibrillation, Mitral regurgitatio... ORPHA:99103
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Chorioretinal coloboma, Posterior embryotoxon, Morning glory a... OMIM:612109
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Scorpion Envenomation
Mydriasis, Prominent U wave, Myocarditis, Hypertension, Premature ventricular contraction, Hypoka... ORPHA:466677
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Stiff Person Spectrum Disorder
Difficulty walking, Falls, Exaggerated startle response ORPHA:3198
Srd5A3-Cdg
Optic atrophy, Optic disc hypoplasia, Rod-cone dystrophy, Ataxia, Microcytic anemia, Cataract ORPHA:324737
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hypertension, Hyperuricemia ORPHA:77296
Congenital Generalized Lipodystrophy
Hypertrophic cardiomyopathy, Hypercholesterolemia, Congestive heart failure, Hypertriglyceridemia... ORPHA:528
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Tra... ORPHA:91495
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Anemia, Aplasia/Hypoplasia of the iris, Splenomegaly, Cornea... ORPHA:290
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hypertension, Gait disturbance, Elevated circulating creatine kinase concentration, Steppage gait... ORPHA:437572
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod... OMIM:609033
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Retinal nonattachment, Reti... OMIM:221900
Severe Early-Childhood-Onset Retinal Dystrophy
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Poster... ORPHA:364055
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Bardet-Biedl Syndrome 9
Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Cataract, Atte... OMIM:615986
Galactosemia I
Hypergalactosemia, Increased level of galactitol in red blood cells, Cataract, Hemolytic anemia, ... OMIM:230400
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Systolic heart murmur, Atriovent... ORPHA:1329
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Cataract, Hypocalcemia OMIM:146200
Atrial Septal Defect, Ostium Primum Type
Syncope, Abnormal P wave, Atrial fibrillation, Mitral regurgitation, Systolic heart murmur, Palpi... ORPHA:99106
Laron Syndrome
Hypercholesterolemia ORPHA:633
Congenital Sialidosis Type 2
Optic atrophy, Developmental cataract, Telangiectasia, Hypoplasia of the fovea, Cherry red spot o... ORPHA:93400
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Aortic regurgitation, Hypercholesterolemia, Renovascular hypertension ORPHA:401923
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Bardet-Biedl Syndrome 20
Rod-cone dystrophy, Hypercholesterolemia, Papilledema, Retinal vascular tortuosity, Astigmatism OMIM:619471
Enhanced S-Cone Syndrome
Vitreoretinopathy, Macular edema, Cataract, Pigmentary retinopathy, Retinoschisis OMIM:268100
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Anemia, Cardiomyopathy, Splenomegaly, Hyperch... ORPHA:264580
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Elevated circulating creatine kinase concentration, Inability to walk,... ORPHA:268
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Congenital Bile Acid Synthesis Defect Type 4
Elevated circulating creatine kinase concentration, Ataxia, Cataract, Pigmentary retinopathy, Hem... ORPHA:79095
Mevalonic Aciduria
Fluctuating splenomegaly, Nuclear cataract, Leukocytosis, Optic disc pallor, Normocytic hypoplast... OMIM:610377
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Mitral regurgitation, Persistence of hemogl... OMIM:612561
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Microcoria, Retinal dystrophy, Cataract OMIM:263100
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Cardiomyopathy, Splenomegaly, Hypercholestero... ORPHA:370
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum ... OMIM:619662
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Eisenmenger Syndrome
Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, Elevated circula... ORPHA:97214
Idiopathic Panuveitis
Conjunctival hyperemia, Vitreous floaters, Choroidal neovascularization, Vitreous snowballs, Post... ORPHA:280921
Refsum Disease
Abnormality of retinal pigmentation, Cardiomyopathy, Heart block, Splenomegaly, Ataxia, Cataract,... ORPHA:773
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Hypertension, Hypercholesterolemia OMIM:615812
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Bradycardia, Hypercholeste... ORPHA:90674
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract OMIM:604278
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Hyperalaninemia,... OMIM:615418
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Anemia, Splenomegaly, Hypercholesterolemia, H... ORPHA:79240
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Familial Isolated Hypoparathyroidism
Arrhythmia, Cataract, Hypocalcemia ORPHA:2238
Proximal Myotonic Myopathy
Cataract ORPHA:606
Blackfan-Diamond Anemia
Thrombocytosis, Developmental cataract, Elevated red cell adenosine deaminase level, Neutropenia,... ORPHA:124
Lysinuric Protein Intolerance
Hyperglycinemia, Hyperammonemia, Increased circulating ferritin concentration, Hepatosplenomegaly... ORPHA:470
Walker-Warburg Syndrome
Abnormality of the optic nerve, Optic atrophy, Abnormal circulating creatine kinase concentration... ORPHA:899
Juvenile Dermatomyositis
Calcinosis, Pericarditis, Elevated circulating creatine kinase concentration, Telangiectasia of t... ORPHA:93672
Papillorenal Syndrome
Morning glory anomaly, Retinal coloboma, Macular hyperpigmentation, Optic disc coloboma, Macular ... OMIM:120330
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Elevated circulating creatine kinase concentration, Retinal dystrophy, Buphthalmos, Cataract ORPHA:370997
Alagille Syndrome 1
Posterior embryotoxon, Axenfeld anomaly, Hypercholesterolemia, Cataract, Chorioretinal atrophy, P... OMIM:118450
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... ORPHA:300751
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Increased mean corpuscular volume, Mitral regurgitation, Thrombocytopenia... ORPHA:261250
Ebstein Anomaly
Atrial standstill, Atrial fibrillation, Ventricular preexcitation, Right bundle branch block, Sud... OMIM:224700
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Hypercholesterolemia OMIM:618348
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Aortic regurgitation, Ataxia, Hepatosplenomegaly, Corneal opacity, Cataract, P... ORPHA:309288
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Syncope, Left-to-right shunt, Systolic heart murmur, Palpitations, Pul... ORPHA:99104
Weill-Marchesani Syndrome
Mitral regurgitation, Ectopia lentis, Pulmonic stenosis, Cataract, Aortic valve stenosis ORPHA:3449
Aniridia 2
Aniridia, Cataract OMIM:617141
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Crimean-Congo Hemorrhagic Fever
Myocarditis, Thrombocytopenia, Subdural hemorrhage, Melena, Splenomegaly, Pancytopenia, Diffuse a... ORPHA:99827
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal circulating cholesterol concentration, Myocardial infarction, Ataxia,... OMIM:213700
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Systolic heart murmur, Tricuspid regurgitation, Abnormal atrioventricu... ORPHA:439
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Syncope, Abnormal T-wave, Elevated circulating C-reactive protein conc... ORPHA:70591
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Vacuolated lymphocytes, Pulmonary arterial hypertension, Bone-marrow ... ORPHA:275761
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Dystonia, Juvenile-Onset
Generalized dystonia, Cataract OMIM:607371
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Isolated Ectopia Lentis
Hypertension, Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Gait disturbance, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Ataxia, Cataract, ... ORPHA:88628
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Torticollis, Limb tremor, Exaggerated startle response, Limb dystonia, Oculogyric cris... OMIM:608643
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Sclerocornea, Retinal dystrophy, Iris coloboma, Cataract, Microcornea ORPHA:139471
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... ORPHA:811
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ocular albinism, Hypochromic anemia, Ataxia, Cataract, Iris hypopigmentation, Abnormality of neut... ORPHA:2720
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Inability to walk, Calcinosis, Cataract OMIM:617913
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Buphthalmos, Hypokalemia, Chorioretinal dysplasia, Hypophosphatemia, Anemia, Lentig... ORPHA:534
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Immunodeficiency 47
Normocytic anemia, Leukopenia, Tricuspid regurgitation, Splenomegaly, Hypercholesterolemia, Acces... OMIM:300972
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Mildly elevated creat... OMIM:607459
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Elevated circulating creatine kinase concentration, Retinal dystrophy, Buphthalmos, Cataract OMIM:616538
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Anemia, Hypomagnesemia, Cataract, Hypocalcemia, Hematochezia OMIM:175500
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Hypercholesterolemia, Congestive hea... ORPHA:363618
Cutis Laxa, Autosomal Recessive, Type Iid
Hypertrophic cardiomyopathy, Congestive heart failure, Cataract, Right bundle branch block OMIM:617403
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Gait disturbance, Posterior subcapsular cataract, Atrial fibrillation, Ca... ORPHA:273
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Hypertension, Hyperlipidemia, Abnormal myeloid leukocyte morphology, Epistax... ORPHA:79259
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Hereditary Cryohydrocytosis With Reduced Stomatin
Stomatocytosis, Ataxia, Zonular cataract, Conjugated hyperbilirubinemia, Hepatosplenomegaly, Cata... ORPHA:168577
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia, Hypertension ORPHA:69663
Homozygous Familial Hypercholesterolemia
Hypertension, Optic neuropathy, Mitral regurgitation, Heart murmur, Supravalvular aortic stenosis... ORPHA:391665
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Exaggerated startle response, Broad-based gait ORPHA:438216
Ebstein Malformation Of The Tricuspid Valve
Atrial fibrillation, Cerebral ischemia, Congestive heart failure, Right bundle branch block, Sudd... ORPHA:1880
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Pe... OMIM:614643
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hypertension, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Alport Syndrome 2, Autosomal Recessive
Hypertension, Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
Diamond-Blackfan Anemia 7
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612562
Xeroderma Pigmentosum, Complementation Group D
Keratoconjunctivitis sicca, Telangiectasia, Keratitis, Ataxia, Cataract, Corneal neovascularizati... OMIM:278730
Lowe Oculocerebrorenal Syndrome
Developmental cataract, Dense posterior cortical cataract, Elevated maternal serum alpha-fetoprot... OMIM:309000
Legius Syndrome
Dystonia, Paroxysmal atrial tachycardia, Pulmonic stenosis, Hyperactivity, Xanthelasma, Cataract,... ORPHA:137605
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Elevated circulating creatine kinase concentration, Cardiomyopathy, Cataract ORPHA:363623
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Optic atrophy, Right bundle branch block OMIM:618590
Tay-Sachs Disease
Gait disturbance, Dystonia, Dysmetria, Exaggerated startle response, Laryngeal dystonia, Tremor, ... ORPHA:845
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Bundle branch block, Pulmonic stenosis, Myocardial infarction, Arrhy... ORPHA:500
Microphthalmia, Syndromic 5
Retinal dystrophy, Microcornea, Optic nerve hypoplasia, Cataract OMIM:610125
Pearson Syndrome
Neutropenia, Hypokalemia, Cardiac conduction abnormality, Corneal stromal edema, Hypophosphatemia... ORPHA:699
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Iron deficiency anemia, Steatorrhea, Cataract, Band keratopathy, Keratoconjunctivitis OMIM:269200
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Abnormality of retinal pigmentation, Normocytic anemia, Choroidal neovascular... ORPHA:91500
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Cerulean cataract, Posterior subcapsular cataract, Anterior subcapsular cataract, ... ORPHA:67036
Knobloch Syndrome
Ectopia lentis, Vitreoretinopathy, Macular degeneration, Retinal detachment, Abnormal vitreous hu... ORPHA:1571
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Buphthalmos, Retinal degeneration, Retinal dysplasia, Elevated circulating creatin... OMIM:253280
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Marbach-Rustad Progeroid Syndrome
Pulmonary insufficiency, Right bundle branch block OMIM:619322
Sandhoff Disease
Ataxia, Exaggerated startle response OMIM:268800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Aortic Arch Interruption
Shock, Hypertension, Systolic heart murmur, Aortic regurgitation, Tricuspid regurgitation, Interm... ORPHA:2299
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Blau Syndrome
Hypertension, Pericarditis, Cystoid macular edema, Cataract, Band keratopathy, Iritis OMIM:186580
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Mitral regurgitation, Optic nerve hypoplasia, Tricuspid regurgitation, Pulmonic stenosis, Right b... OMIM:617506
Nestor-Guillermo Progeria Syndrome
Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Right bundle branch block, S... OMIM:614008
Leopard Syndrome 1
Hypertrophic cardiomyopathy, Third degree atrioventricular block, Bundle branch block, Pulmonic s... OMIM:151100
Biliary, Renal, Neurologic, And Skeletal Syndrome
Left-to-right shunt, Aortic regurgitation, Pulmonary arterial hypertension, Elevated circulating ... OMIM:619534
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Cardiomyopathy, Bundle branch block, Splenomegaly, Polysplenia ORPHA:373
Norrie Disease
Optic atrophy, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Ectopia lentis, Sclerocorn... ORPHA:649
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Right bundle branch block OMIM:617402
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Inability to walk, Exaggerated startle response, Broad-based gait ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:619522

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 Gde1

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 Gde1.

No publications found that use IMPC mice or data for Gde1.

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MGI Allele Allele Type Produced
Gde1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Gde1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Gde1tm47313(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Gde1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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