Gene Summary

Name:
phosphatase and actin regulator 4
Synonyms:
3110001B12Rik,  C330013F19Rik

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
preweaning lethality, complete penetrance Phactr4em1(IMPC)Hmgu HOM   Early adult 1.79×10-08
abnormal QT variability Phactr4em1(IMPC)Hmgu HET Early adult 6.23×10-05

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

6 Images

Human diseases caused by Phactr4 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 Phactr4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Brugada Syndrome 9
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval OMIM:616399
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... OMIM:611819
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... OMIM:613980
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Long Qt Syndrome 14
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... OMIM:616247
Atrial Fibrillation, Familial, 3
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... OMIM:607554
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave OMIM:614049
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602086
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... OMIM:612347
Short Qt Syndrome 1
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... OMIM:609620
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Brugada Syndrome 4
Atrial fibrillation, Shortened QT interval, Syncope OMIM:611876
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602087
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Brugada Syndrome 7
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Brugada Syndrome 5
Bundle branch block, ST segment elevation, Ventricular fibrillation OMIM:612838
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... OMIM:616249
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Retinal dysplasia, Coloboma ORPHA:324416
Nathalie Syndrome
Abnormal EKG OMIM:255990
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Spina bifida, Retinal degeneration OMIM:311000
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Romano-Ward Syndrome
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Coloboma OMIM:613703
Choroideremia
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... OMIM:303100
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... OMIM:601494
Sick Sinus Syndrome 2
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... OMIM:163800
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Left bundle branch block, Mitral r... OMIM:617047
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Ventricular Tachycardia, Familial
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block OMIM:192605
Joubert Syndrome 16
Encephalocele, Retinal dystrophy, Coloboma OMIM:614465
Diprosopus
Abnormality of retinal pigmentation, Anencephaly ORPHA:1681
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Persistent Placoid Maculopathy
Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... ORPHA:97341
Brugada Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... OMIM:611777
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... OMIM:108950
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure ORPHA:871
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:615990
Brugada Syndrome 1
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... OMIM:601144
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613809
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Tako-Tsubo Cardiomyopathy
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... ORPHA:66529
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Ventricular fibrillation ORPHA:90647
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... OMIM:140400
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... OMIM:608751
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... ORPHA:1344
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... OMIM:113900
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... OMIM:608758
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Coloboma OMIM:602499
Leber Congenital Amaurosis
Encephalocele, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Umbilical hernia, Chorioretinal coloboma ORPHA:2196
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Retinitis Pigmentosa 47
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613758
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Cardiomyopathy, Familial Hypertrophic 27
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Mitral regurgita... OMIM:618052
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ab... OMIM:251270
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Achromatopsia
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... ORPHA:49382
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Death in childhood, Hydrocephalus, Retinal detachment, Coloboma OMIM:613153
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... OMIM:613428
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Numerous congenital melanocytic nevi, Generalized hyperpigme... ORPHA:2481
Coach Syndrome 2
Hydrocephalus, Chorioretinal coloboma, Coloboma OMIM:619111
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Coloboma OMIM:274270
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Microphthalmia, Isolated, With Coloboma 4
Coloboma OMIM:251505
Microphthalmia, Isolated, With Coloboma 7
Coloboma OMIM:614497
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Leber Congenital Amaurosis 9
Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, Attenuation of reti... OMIM:608553
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Abnormality of retinal pigmentation ORPHA:397951
Biemond Syndrome Type 2
Hydrocephalus, Coloboma ORPHA:141333
Retinitis Pigmentosa 76
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... OMIM:617123
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 90
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... OMIM:619007
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:614180
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... OMIM:608133
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613801
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy OMIM:180104
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Joubert Syndrome 14
Coloboma, Hydrocephalus, Morning glory anomaly, Encephalocele OMIM:614424
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Congenital Stationary Night Blindness
Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re... ORPHA:215
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Noncompaction cardiomyopathy, Dilated cardiomyopathy, Prolonged QT interval... OMIM:610198
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Intellectual Developmental Disorder, Autosomal Recessive 67
Coloboma OMIM:618295
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... OMIM:618144
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Death in infancy ORPHA:1466
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrial arrhythmia, Sudden cardiac death, Palpitations, Absent P wave, Atrioventricular block, Fir... OMIM:310300
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Attrv122I Amyloidosis
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardiomyopathy, Arrhythmia... ORPHA:85451
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:606068
Retinitis Pigmentosa 6
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:312612
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block OMIM:615616
Retinitis Pigmentosa 4
Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
Joubert Syndrome 22
Retinal dysplasia, Coloboma OMIM:615665
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Mental Retardation Syndrome, Belgian Type
Coloboma OMIM:249599
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Coloboma, Anterior encephalocele, Holoprosencephaly OMIM:601357
Abruzzo-Erickson Syndrome
Coloboma, Iris coloboma, Chorioretinal coloboma ORPHA:921
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:264470
Congenital Toxoplasmosis
Hydrocephalus, Abnormality of retinal pigmentation ORPHA:858
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Optic nerve hypoplasia, Retinal detachment, Coloboma, Optic atrophy, Occipital enc... ORPHA:370959
Retinitis Pigmentosa 87 With Choroidal Involvement
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:618697
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Microphthalmia, Isolated 4
Coloboma OMIM:613094
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Retinal degeneration, Coloboma OMIM:615249
Acalvaria
Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Frontonasal Dysplasia 1
Cranium bifidum occultum, Anterior basal encephalocele, Coloboma OMIM:136760
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma ORPHA:35737
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:180100
Sjögren-Larsson Syndrome
Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera... ORPHA:816
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration OMIM:164500
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Leber Congenital Amaurosis 1
Optic disc drusen, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy OMIM:204000
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
2Q24 Microdeletion Syndrome
Coloboma ORPHA:1617
Myofibrillar Myopathy 10
Increased QRS voltage, Prolonged QTc interval OMIM:619040
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Coronary Arterial Fistula
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... ORPHA:2041
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida, Chorioretinal coloboma OMIM:600122
Srd5A3-Cdg
Spotty hyperpigmentation, Rod-cone dystrophy, Coloboma, Optic atrophy, Optic disc hypoplasia ORPHA:324737
Abruzzo-Erickson Syndrome
Coloboma OMIM:302905
Retinitis Pigmentosa 2
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Chorioretinal degeneration, Bull's ey... OMIM:312600
Andersen-Tawil Syndrome
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... ORPHA:37553
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Abnormality of retinal pigmentation ORPHA:1259
Retinitis Pigmentosa 86
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... OMIM:618613
Retinitis Pigmentosa 41
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... OMIM:612095
Zika Virus Disease
Absent foveal reflex, Miscarriage, Retinal pigment epithelial mottling, Chorioretinal atrophy, Ir... ORPHA:448237
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Bone spic... ORPHA:364055
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Iris coloboma, Coloboma OMIM:610023
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Heterochromia iridis ORPHA:1390
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Retinitis Punctata Albescens
Absent foveal reflex, Cystoid macular edema, Abnormality of fundus pigmentation, Retinal pigment ... ORPHA:52427
Retinitis Pigmentosa 12
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:600105
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, ST segment elevation, T-wave inversion, Ventricular tachycardia, Right ... ORPHA:263297
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Atrial Standstill 2
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Cardiom... OMIM:615745
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Amish Lethal Microcephaly
Optic atrophy, Spina bifida, Death in infancy ORPHA:99742
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Coloboma OMIM:120433
Cirrhotic Cardiomyopathy
Third heart sound, Left ventricular diastolic dysfunction, Elevated pulmonary artery pressure, Ar... ORPHA:57777
Cone-Rod Dystrophy 3
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... OMIM:604116
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:791
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... OMIM:145350
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation, Aqueductal stenosis ORPHA:1496
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... ORPHA:75565
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Narp Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal arteriolar tortuosity, Rod-cone d... ORPHA:644
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hyperpigmented nevi, Blue irides, Heterochromia iridis, Hypo... ORPHA:79432
Coach Syndrome 1
Optic disc pallor, Encephalocele, Occipital encephalocele, Coloboma OMIM:216360
Retinitis Pigmentosa 56
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... OMIM:613581
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613464
Joubert Syndrome 8
Optic disc pallor, Occipital encephalocele, Pigmentary retinopathy OMIM:612291
Neonatal Lupus Erythematosus
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Dilated cardiomyopathy, Heart b... ORPHA:398124
Retinitis Pigmentosa 10
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... OMIM:180105
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White... ORPHA:897
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Retinitis Pigmentosa 83
Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi... OMIM:618173
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degeneration, Cone/... OMIM:605549
Leber Congenital Amaurosis 15
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor OMIM:613843
Retinitis Pigmentosa 46
Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy OMIM:612572
Microphthalmia, Syndromic 13
Coloboma OMIM:300915
Peripartum Cardiomyopathy
Left bundle branch block, Abnormal T-wave, Mitral regurgitation, Right ventricular failure, Tachy... ORPHA:563
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... ORPHA:1329
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy OMIM:268050
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Atrial Septal Defect, Ostium Primum Type
Congestive heart failure, Abnormal P wave, Fixed splitting of the second heart sound, Tricuspid r... ORPHA:99106
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Palpitations, Arrhythmia... ORPHA:75566
Timothy Syndrome
Prolonged QT interval, Bradycardia OMIM:601005
Familial Hyperaldosteronism Type Iii
Epistaxis, Hypertension, Intracranial hemorrhage, Prolonged QT interval ORPHA:251274
Treacher Collins Syndrome 3
Coloboma OMIM:248390
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Retinitis Pigmentosa 43
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pall... OMIM:613810
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Retinitis Pigmentosa 58
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:613617
Acquired Aneurysmal Subarachnoid Hemorrhage
ST segment depression, Cerebral hemorrhage, Cerebral ischemia, Syncope, Prolonged QTc interval, M... ORPHA:90065
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Pulmonary arterial hypertension with lack of acute response t... OMIM:615344
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hydrocephalus, Optic nerve hypoplasia, Retinal detachment, Coloboma, Optic atrophy, Retinal atrop... OMIM:236670
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypo... ORPHA:79434
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Otodental Dysplasia
Coloboma OMIM:166750
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarction, Abnormal... ORPHA:330001
Schisis Association
Encephalocele, Spina bifida, Anencephaly ORPHA:63862
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Congenital Disorder Of Glycosylation, Type Iq
Optic atrophy, Abnormality of skin pigmentation, Coloboma OMIM:612379
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Death in adolescence, Pigmentary retinopathy OMIM:619059
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks ORPHA:100996
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation, Holoprosencephaly ORPHA:2163
Congenital Aortic Valve Stenosis
Angina pectoris, Abnormal left ventricular function, Abnormal T-wave, Aortic valve stenosis, Abno... ORPHA:3093
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Coloboma OMIM:220210
Solitary Median Maxillary Central Incisor
Coloboma, Cyclopia, Holoprosencephaly OMIM:147250
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:300029
Retinitis Pigmentosa 25
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic disc pallo... OMIM:602772
Laurence-Moon Syndrome
Pigmentary retinopathy OMIM:245800
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy ORPHA:370968
Treacher Collins Syndrome 2
Coloboma OMIM:613717
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling, Death in childhood OMIM:619517
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Autosomal Dominant Keratitis
Macular hypoplasia, Aniridia, Hypoplasia of the fovea, Coloboma ORPHA:2334
15Q24 Microdeletion Syndrome
Myelomeningocele, Coloboma ORPHA:94065
Acute Zonal Occult Outer Retinopathy
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... ORPHA:284454
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Leigh Syndrome With Leukodystrophy
Optic atrophy, Pigmentary retinopathy ORPHA:255241
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Bundle branch block, Supraventricular tachycardia, Abnormal left ven... ORPHA:99103
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Waardenburg Syndrome Type 1
Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Meningocele, Whit... ORPHA:894
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Naxos Disease
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Sudde... OMIM:601214
Retinitis Pigmentosa 49
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:613756
Posterior Column Ataxia With Retinitis Pigmentosa
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic atrophy, ... OMIM:609033
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Pontocerebellar Hypoplasia, Type 11
Coloboma OMIM:617695
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation ORPHA:1433
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus ORPHA:2801
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Retinal detachment ORPHA:171844
Myopathy, Myosin Storage, Autosomal Recessive
Right axis deviation, Dilated cardiomyopathy, Elevated jugular venous pressure, Right bundle bran... OMIM:255160
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Chorioretinal atrophy, Abnormality of retinal pigmentation, Abnormal chorioretinal m... ORPHA:5
Joubert Syndrome 23
Coloboma OMIM:616490
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation ORPHA:3085
Anophthalmia Plus Syndrome
Iris coloboma, Spina bifida ORPHA:1104
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Abnormality of retinal pigmentation, Retinal thinning, Cone/cone-rod dystrophy, Coloboma, Retinal... ORPHA:85167
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Vici Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of the skin, O... ORPHA:1493
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Spina bifida, Cervical myelopathy OMIM:207950
Multiple Sulfatase Deficiency
Optic atrophy, Hydrocephalus, Abnormality of retinal pigmentation ORPHA:585
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Umbilical hernia, Coloboma ORPHA:329224
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Pelvis-Shoulder Dysplasia
Hydrocephalus, Retinal coloboma, Hydranencephaly, Iris coloboma, Spina bifida ORPHA:2839
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Cone-Rod Dystrophy 10
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610283
Facial Clefting, Oblique, 1
Coloboma OMIM:600251
Marcus-Gunn Syndrome
Morning glory anomaly, Coloboma ORPHA:91412
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Cone-Rod Dystrophy 2
Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial atrophy, Macular hyper... OMIM:120970
Baraitser-Winter Syndrome 2
Coloboma OMIM:614583
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation OMIM:108145
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal degenerati... OMIM:615986
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Tachycardia, Arrhythmia, Dilated cardiomyopathy, Ventricular tachycardia, Ventricular fibrillatio... ORPHA:26793
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia ORPHA:36913
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Retinitis Pigmentosa 72
Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigment... OMIM:616469
Waardenburg Syndrome, Type 1
Myelomeningocele, Blue irides, Partial albinism, White eyebrow, White eyelashes, Heterochromia ir... OMIM:193500
Mulibrey Nanism
Iris coloboma, Pigmentary retinopathy OMIM:253250
Retinitis Pigmentosa 14
Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriolar constriction, Rod-... OMIM:600132
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Mottled pigmentation of photoexposed areas, Death in childhood, Death in adolescence, Pigmentary ... OMIM:560000
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration ORPHA:79264
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Coloboma OMIM:618659
Congenital Rubella Syndrome
Abnormality of retinal pigmentation ORPHA:290
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Coloboma ORPHA:464288
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy OMIM:613156
Oculogastrointestinal Neurodevelopmental Syndrome
Coloboma OMIM:619318
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Trisomy 18
Abnormality of retinal pigmentation, Holoprosencephaly, Anencephaly, Iris coloboma, Cyclopia, Spi... ORPHA:3380
Muscular Dystrophy, Duchenne Type
Arrhythmia, Dilated cardiomyopathy, Abnormal EKG, Cardiomyopathy, Congestive heart failure OMIM:310200
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Leigh Syndrome
Optic atrophy, Pigmentary retinopathy OMIM:256000
Camptodactyly Syndrome, Guadalajara Type 1
Melanocytic nevus, Spina bifida ORPHA:1327
Bardet-Biedl Syndrome 17
Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule ... OMIM:615994
Enhanced S-Cone Syndrome
Retinoschisis, Macular edema, Pigmentary retinopathy, Vitreoretinopathy OMIM:268100
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation ORPHA:578
Verheij Syndrome
Coloboma OMIM:615583
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Retinal dystrophy, Coloboma OMIM:610125
Mucopolysaccharidosis, Type Ii
Papilledema, Hydrocephalus, Abnormality of retinal pigmentation, Umbilical hernia OMIM:309900
Retinitis Pigmentosa 66
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:615233
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation ORPHA:96
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Coloboma OMIM:616789
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly, Encephalocele ORPHA:2211
Andersen Cardiodysrhythmic Periodic Paralysis
Palpitations, Prolonged QTc interval, Syncope, Bidirectional ventricular ectopy, Prominent U wave... OMIM:170390
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2518
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:216866
Cocaine Intoxication
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... ORPHA:90068
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Hydrocephalus, Retinal degeneration, Coloboma, Optic atrophy, Retinal a... OMIM:253280
Familial Multiple Lipomatosis
Chorioretinitis, Coloboma ORPHA:199276
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Optic nerve hypoplasia, Coloboma, Iris coloboma, Abnormal optic disc morphology... ORPHA:508498
Neurooculocardiogenitourinary Syndrome
Coloboma OMIM:618652
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Pigmentary retinopathy, Umbilical hernia OMIM:612582
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Hypopigmented skin patches, Abnormal retinal ... ORPHA:2715
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Rod-cone dystrophy OMIM:268020
Drug-Induced Lupus Erythematosus
Pericarditis, Prolonged QTc interval ORPHA:231111
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval OMIM:312750
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy OMIM:300578
Refsum Disease
Retinopathy, Abnormality of retinal pigmentation ORPHA:773
Cone-Rod Dystrophy 6
Chorioretinal atrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atr... OMIM:601777
Nasopalpebral Lipoma-Coloboma Syndrome
Coloboma OMIM:167730
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:231625
Micro Syndrome
Retinal coloboma, Optic atrophy, Abnormality of retinal pigmentation ORPHA:2510
Ethylene Glycol Poisoning
Tachycardia, Hypotension, Shock, Hypertension, Atrial fibrillation, Prolonged QT interval, Conges... ORPHA:31826
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Death in infancy ORPHA:1120
Lipodystrophy, Congenital Generalized, Type 4
Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia OMIM:613327
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Prolonged QTc interval, Ventricular tachycardia, Ventricular fibrillation, Hy... OMIM:616878
Cohen Syndrome
Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Chorioretinal dys... OMIM:216550
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:88628
Cree Mental Retardation Syndrome
Coloboma OMIM:606851
Stevenson-Carey Syndrome
Coloboma OMIM:611961
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Left ventricular outflow tract obstruction, Tachycardia, Abnormal QRS complex, Hea... ORPHA:860
Peroxisome Biogenesis Disorder 2A (Zellweger)
Death in childhood, Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia OMIM:214110
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Abnormal EKG, Prolonged QT interval, Arrhythmia ORPHA:480864
Czeizel-Losonci Syndrome
Myelomeningocele, Hydrocephalus, Spina bifida, Spina bifida occulta ORPHA:2437
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Pseudohypoparathyroidism Type 1B
Prolonged QT interval ORPHA:94089
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Coloboma OMIM:617306
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:268315
Fountain Syndrome
Spina bifida, Spina bifida occulta ORPHA:3219
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Branchio-Oculo-Facial Syndrome
Iris coloboma, Premature graying of hair, Coloboma ORPHA:1297
Thyrotoxic Periodic Paralysis
Palpitations, Shortened PR interval, Second degree atrioventricular block, Ventricular fibrillati... ORPHA:79102
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Prolonged QT interval ORPHA:66634
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy ORPHA:71212
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure OMIM:229300
Werner Syndrome
White forelock, Premature graying of hair, Miscarriage, Abnormality of retinal pigmentation ORPHA:902
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Arrhinencephaly, Abnormality of the optic nerve, Spina bifida ORPHA:3412
Cerebrocostomandibular Syndrome
Myelomeningocele, Hydranencephaly, Death in infancy, Meningocele, Spina bifida ORPHA:1393
Acro-Renal-Ocular Syndrome
Optic disc coloboma, Coloboma, Iris coloboma, Optic disc hypoplasia, Chorioretinal coloboma ORPHA:959
Cohen Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Iris coloboma, Abnormality of skin pigmentati... ORPHA:193
Al Amyloidosis
Abnormal P wave, Jaw claudication, Arrhythmia, Abnormal EKG, Postural hypotension with compensato... ORPHA:85443
Gitelman Syndrome
Palpitations, Prolonged QT interval, Ventricular tachycardia, Hypotension OMIM:263800
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Coffin-Lowry Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Death in early adulthood ORPHA:192
Pagod Syndrome
Optic atrophy, Death in infancy, Meningocele, Encephalocele, Spina bifida ORPHA:991
Aceruloplasminemia
Abnormality of retinal pigmentation, Retinal degeneration, Macular degeneration ORPHA:48818
Gitelman Syndrome
Abnormal T-wave, ST segment depression, Raynaud phenomenon, Palpitations, Syncope, Prominent U wa... ORPHA:358
Schimmelpenning-Feuerstein-Mims Syndrome
Hypopigmentation of the skin, Coloboma OMIM:163200
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus, Retinal degeneration, Abnormality of macular pigmentation, Pigmentary retinopathy,... ORPHA:79282
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Temporal optic disc pallor OMIM:619649
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy OMIM:222300
2Q31.1 Microdeletion Syndrome
Iris coloboma, Optic disc coloboma, Coloboma ORPHA:251014
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia OMIM:614866
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Death in childhood, Pigmentary retinopathy OMIM:220110
Acrocallosal Syndrome
Optic atrophy, Hypopigmentation of the fundus, Umbilical hernia, Coloboma OMIM:200990
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Coloboma, Branchial anomaly ORPHA:453499
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Coloboma, Abnormality of the optic nerve, Optic nerve hypoplasia, Branchial anomaly ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Coloboma, Abnormality of the optic nerve, Optic nerve hypoplasia, Branchial anomaly ORPHA:352665
Iniencephaly
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Encephalocele... ORPHA:63259
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval OMIM:300352
Prolidase Deficiency
White forelock, Abnormality of retinal pigmentation ORPHA:742
Cartilage-Hair Hypoplasia
Spinal dysraphism, Abnormality of retinal pigmentation ORPHA:175
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy ORPHA:79095
Aicardi Syndrome
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma, Optic atrophy, Abno... ORPHA:50
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Coloboma ORPHA:251028
Curry-Jones Syndrome
Coloboma OMIM:601707
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus, Pigmentary retinopathy OMIM:277400
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:2235
Mucopolysaccharidosis Type 2
Abnormality of retinal pigmentation, Retinal degeneration, Abnormal foveal morphology, Papilledem... ORPHA:580
Pantothenate Kinase-Associated Neurodegeneration
Retinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy, Retinal flecks, Optic atrophy, ... ORPHA:157850
Fanconi Anemia, Complementation Group D2
Cafe-au-lait spot, Hydrocephalus, Abnormality of skin pigmentation, Prolonged G2 phase of cell cycle OMIM:227646
Aicardi Syndrome
Retinal detachment, Optic disc coloboma, Optic atrophy, Chorioretinal lacunae, Spina bifida OMIM:304050
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Hydrocephalus, Abnormality of retinal pigmentation ORPHA:505248
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus, Abnormality of retinal pigmentation, Hypopigmented skin patches, Retinal dystrophy... ORPHA:2556
Bohring-Opitz Syndrome
Optic atrophy, Retinal atrophy, Coloboma ORPHA:97297
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Abnormal left ventricular function, Abnormal T-wave, Right ventricular failure, Pa... ORPHA:70591
Focal Dermal Hypoplasia
Iris coloboma, Abnormality of skin pigmentation, Umbilical hernia, Spina bifida, Chorioretinal co... ORPHA:2092
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Orthostatic hypotension, Abnormal EKG, Syncope ORPHA:230
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Abnormal pulse pressure, ST segment depression, Hypotension, Sinus tachycardia, ... ORPHA:466650
Bardet-Biedl Syndrome
Pigmentary retinopathy ORPHA:110
Cardiac Diverticulum
Angina pectoris, Mitral stenosis, Aortic valve stenosis, Premature ventricular contraction, Tricu... ORPHA:1686
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Pigmentary retinopathy, Iris coloboma OMIM:309801
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced left ventricular ejection fraction, Abnormal EKG, Right bundle branch block ORPHA:268
Nasopalpebral Lipoma-Coloboma Syndrome
Coloboma ORPHA:2399
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Freckling, Pigmentary retinopathy OMIM:610651
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Neurofibromatosis Type 1
Hydrocephalus, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Freckling, Het... ORPHA:636
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ... ORPHA:1969
Congenital Sialidosis Type 2
Telangiectasia, Abnormal EKG ORPHA:93400
Posterior Meningocele
Occipital meningocele, Hydrocephalus, Neural tube defect, Meningocele, Lipomyelomeningocele ORPHA:268810
Hallermann-Streiff Syndrome
Iris coloboma, Spina bifida, Optic disc coloboma, Chorioretinal coloboma OMIM:234100
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Pigmentary retinopathy ORPHA:436271
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy, Retinal detachment, Retinal dystrophy, Optic at... ORPHA:2526
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Dextrocardia
T-wave inversion, Abnormal EKG ORPHA:1666
Autosomal Dominant Cerebellar Ataxia
Pigmentary retinopathy, Retinal degeneration, Macular degeneration ORPHA:99
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:96180
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Death in childhood, Brushfield spots, Pigmentary retinopathy OMIM:214100
Mucopolysaccharidosis Type 3
Hydrocephalus, Retinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy, U... ORPHA:581
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pigmentary retinopathy ORPHA:502423
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Perifoveal ring of hyperautofluorescence, Vitiligo, Pigmentary retinopathy OMIM:240300
Developmental Delay, Impaired Speech, And Behavioral Abnormalities