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Gene: Rpgr MGI:1344037

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

retinitis pigmentosa GTPase regulator

Synonyms:

Rp3h, Rd9

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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.

Phenotype associated images not available

Human diseases caused by Rpgr 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.

Human diseases associated with Rpgr (8 diseases)
Human diseases predicted to be associated with Rpgr (666 diseases)

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

Disease	Matching phenotypes	Source
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia...	OMIM:304020
Achromatopsia	Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo...	ORPHA:49382
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:300029
Retinitis Pigmentosa	Optic atrophy, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Retinal...	ORPHA:791
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Rod-cone dystrophy	OMIM:300455
Primary Ciliary Dyskinesia	Rod-cone dystrophy	ORPHA:244

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

Disease	Matching phenotypes	Source
Retinitis Pigmentosa, Late-Adult Onset	Rod-cone dystrophy	OMIM:268025
Retinitis Pigmentosa, Y-Linked	Rod-cone dystrophy	OMIM:400004
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Retinitis Pigmentosa 55	Rod-cone dystrophy	OMIM:613575
Cone-Rod Dystrophy, X-Linked, 2	Cone dystrophy, Cone/cone-rod dystrophy	OMIM:300085
Retinitis Pigmentosa 67	Rod-cone dystrophy	OMIM:615565
Retinitis Pigmentosa 24	Rod-cone dystrophy, Cone dystrophy	OMIM:300155
Stargardt Disease 1	Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy	OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Reticular pigmentary degeneration, Drusen, Retinal dystrophy	OMIM:267800
Macular Degeneration, Age-Related, 13	Choroidal neovascularization, Macular degeneration, Macular scar, Drusen	OMIM:615439
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy	OMIM:215500
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy	OMIM:126600
Retinitis Pigmentosa 36	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:610599
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Macular Dystrophy, Patterned, 3	Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy	OMIM:617111
Cone-Rod Dystrophy 7	Bull's eye maculopathy, Macular atrophy, Retinal flecks, Cone/cone-rod dystrophy	OMIM:603649
Macular Degeneration, Early-Onset	Choroidal neovascularization, Macular degeneration	OMIM:616118
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Choroidal Dystrophy, Central Areolar, 3	Chorioretinal atrophy, Drusen	OMIM:613144
Night Blindness, Congenital Stationary, Type 1D	Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne...	OMIM:613830
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Leber Congenital Amaurosis 19	Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration	OMIM:618513
Stargardt Disease 3	Macular atrophy, Macular dystrophy, Macular flecks	OMIM:600110
Macular Dystrophy, Retinal, 2	Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal...	OMIM:608051
Macular Dystrophy, Retinal, 1, North Carolina Type	Abnormality of macular pigmentation, Drusen, Macular dystrophy, Peripheral retinal atrophy	OMIM:136550
Macular Dystrophy, Vitelliform, 2	Cystoid macular degeneration, Macular dystrophy, Subretinal fluid	OMIM:153700
Retinitis Pigmentosa 31	Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:609923
Exudative Vitreoretinopathy 7	Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold	OMIM:617572
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Late-Onset Retinal Degeneration	Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-...	OMIM:605670
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Ceroid Lipofuscinosis, Neuronal, 6A	Increased neuronal autofluorescent lipopigment, Retinal degeneration	OMIM:601780
Retinoschisis 1, X-Linked, Juvenile	Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,...	OMIM:312700
Leber Congenital Amaurosis 13	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:612712
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1852
Retinal Cone Dystrophy 1	Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy	OMIM:180020
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Cone-Rod Dystrophy 22	Hypoautofluorescent retinal lesion, Hyperautofluorescent macular lesion, Attenuation of retinal b...	OMIM:619531
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
Sorsby Pseudoinflammatory Fundus Dystrophy	Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H...	ORPHA:59181
Retinitis Pigmentosa 39	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613809
Retinopathy, Pericentral Pigmentary, Dominant	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ...	OMIM:180210
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Optic Atrophy 6	Optic atrophy, Retinal degeneration	OMIM:258500
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration	OMIM:619764
Bardet-Biedl Syndrome 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615990
Choroideremia	Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm...	OMIM:303100
Central Areolar Choroidal Dystrophy	Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular...	ORPHA:75377
Best Vitelliform Macular Dystrophy	Cystoid macular degeneration, Choroideremia	ORPHA:1243
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:610445
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor...	ORPHA:97341
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 1	Central retinal vessel vascular tortuosity, Retinal nerve fiber edema, Retinal telangiectasia	OMIM:619382
Cone-Rod Dystrophy 11	Macular degeneration, Cone/cone-rod dystrophy, Macular atrophy, Bull's eye maculopathy	OMIM:610381
Retinitis Pigmentosa 32	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor...	OMIM:609913
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Ceroid Lipofuscinosis, Neuronal, 2	Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent lipopigme...	OMIM:204500
Retinitis Pigmentosa 33	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:610359
Peripheral Cone Dystrophy	Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy	OMIM:609021
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi...	ORPHA:75376
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy, Cardiomyopathy	OMIM:609016
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Leber Congenital Amaurosis With Early-Onset Deafness	Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration	OMIM:617879
Macular Degeneration, Age-Related, 1	Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ...	OMIM:603075
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia	OMIM:615041
Retinitis Pigmentosa 30	Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta...	OMIM:607921
Retinitis Pigmentosa 47	Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy	OMIM:613758
Retinitis Pigmentosa 68	Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615725
Cone-Rod Dystrophy 5	Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:600977
Retinitis Pigmentosa 81	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617871
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Retinitis Pigmentosa 57	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:613582
Bestrophinopathy, Autosomal Recessive	Retinal pigment epithelial atrophy, Retinal flecks	OMIM:611809
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Bothnia Retinal Dystrophy	Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro...	ORPHA:85128
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin...	OMIM:143200
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Subretinal deposits, Macular degeneration, Choriocapillaris atrophy	OMIM:601553
Retinitis Pigmentosa 11	Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,...	OMIM:600138
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Retinitis Pigmentosa 54	Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina...	OMIM:613428
Progressive Bifocal Chorioretinal Atrophy	Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy	ORPHA:75373
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Cone-Rod Dystrophy 13	Macular degeneration, Cone/cone-rod dystrophy	OMIM:608194
Stargardt Disease	Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R...	ORPHA:827
Retinitis Pigmentosa 61	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:614180
Retinitis Pigmentosa 38	Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy	OMIM:613862
Exudative Vitreoretinopathy 3	Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold	OMIM:605750
Retinitis Pigmentosa 4	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme...	OMIM:613731
Ophthalmoplegia, External, And Myopia	Chorioretinal degeneration, Retinal degeneration	OMIM:311000
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613801
Retinitis Pigmentosa 90	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:619007
Retinitis Pigmentosa 62	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:614181
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar vermis atrophy, Optic atrophy, Cerebellar atrophy, Retinal degeneration	OMIM:614322
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration	ORPHA:85334
Retinitis Pigmentosa 95	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:620102
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Retinal degeneration, Macular atrophy	OMIM:267760
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia, Retinal degeneration	OMIM:617173
Cone-Rod Dystrophy 24	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod...	OMIM:620342
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy	OMIM:551500
Retinitis Pigmentosa 9	Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy	OMIM:180104
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Cone Dystrophy 3	Macular atrophy, Cone/cone-rod dystrophy	OMIM:602093
Retinitis Pigmentosa 7	Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys...	OMIM:608133
Retinitis Pigmentosa 27	Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior...	OMIM:613750
Morm Syndrome	Retinal atrophy, Retinal dystrophy	ORPHA:75858
Retinitis Pigmentosa 80	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:617781
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti...	ORPHA:411527
Macular Dystrophy, Vitelliform, 3	Vitelliform-like macular lesions, Choroidal neovascularization, Macular dystrophy, Drusen, Macula...	OMIM:608161
Retinitis Pigmentosa 88	Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p...	OMIM:618826
Retinitis Pigmentosa 76	Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede...	OMIM:617123
Nystagmus 6, Congenital, X-Linked	Hypopigmentation of the fundus, Retinal pigment epithelial mottling	OMIM:300814
Cone-Rod Dystrophy 16	Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ...	OMIM:614500
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Pigmentary retinopathy, Retinopathy	OMIM:610951
Retinitis Pigmentosa 19	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:601718
Retinal Dystrophy And Obesity	Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re...	OMIM:616188
Retinitis Pigmentosa 73	Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret...	OMIM:616544
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy	OMIM:172870
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Ceroid Lipofuscinosis, Neuronal, 3	Optic atrophy, Macular degeneration, Cerebral atrophy, Retinal degeneration, Increased extraneuro...	OMIM:204200
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Retinitis Pigmentosa 84	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:618220
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Lattice retinal degeneration, Rhegmatogenous retinal detachment	OMIM:619248
Mastocytosis, Cutaneous	Erythema, Hypermelanotic macule, Telangiectasia macularis eruptiva perstans, Urticaria	OMIM:154800
Uv-Sensitive Syndrome 3	Telangiectasia, Cutaneous photosensitivity, Freckling	OMIM:614640
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia...	OMIM:304020
Achromatopsia	Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo...	ORPHA:49382
Macular Degeneration, Age-Related, 3	Decreased nerve conduction velocity, Choroidal neovascularization, Macular degeneration, Drusen	OMIM:608895
Bietti Crystalline Dystrophy	Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a...	ORPHA:41751
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Abnormality of skin p...	OMIM:251270
Porokeratosis 2, Palmar, Plantar, And Disseminated Type	Palmar telangiectasia, Plantar telangiectasia	OMIM:175850
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Achromatopsia 7	Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy	OMIM:616517
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Uv-Sensitive Syndrome 1	Telangiectasia, Pigmentation anomalies of sun-exposed skin, Cutaneous photosensitivity, Freckling	OMIM:600630
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Central heterochromia, Retinal degeneration	OMIM:275400
Retinitis Pigmentosa 79	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617460
Retinal Cone Dystrophy 4	Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:610478
Cone-Rod Dystrophy 15	Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:613660
Microphthalmia, Isolated 5	Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat...	OMIM:611040
Nephronophthisis 15	Retinal degeneration	OMIM:614845
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Cardiomyopathy, Retinal degeneration	OMIM:520000
Retinal Telangiectasia And Hypogammaglobulinemia	Retinal telangiectasia	OMIM:267900
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Abnormality of retinal pigmentation	ORPHA:2515
Myopia, High, With Cataract And Vitreoretinal Degeneration	Lattice retinal degeneration, Retinal detachment, Vitreous floaters, Peripheral vitreoretinal deg...	OMIM:614292
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s...	ORPHA:506353
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ...	OMIM:618697
Retinitis Pigmentosa 6	Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy	OMIM:312612
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage	OMIM:264420
Spinocerebellar Ataxia, Autosomal Recessive 29	Optic disc pallor, Retinal pigment epithelial mottling	OMIM:619389
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy	OMIM:616502
Ceroid Lipofuscinosis, Neuronal, 1	Optic atrophy, Macular degeneration, Cerebral atrophy, Retinal degeneration, Increased neuronal a...	OMIM:256730
Chorioretinal Atrophy, Progressive Bifocal	Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy	OMIM:600790
Ramon Syndrome	Telangiectasia of the skin, Abnormality of retinal pigmentation	ORPHA:3019
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:616108
Congenital Stationary Night Blindness	Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness...	ORPHA:215
Bardet-Biedl Syndrome 4	Rod-cone dystrophy, Retinal degeneration	OMIM:615982
Macular Dystrophy, Retinal, 3	Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati...	OMIM:608850
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Dilated cardiomyopathy, Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal ...	OMIM:145350
Ceroid Lipofuscinosis, Neuronal, 5	Cerebral cortical atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Re...	OMIM:256731
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy	OMIM:602271
Leber Congenital Amaurosis 2	Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ...	OMIM:204100
Retinitis Pigmentosa 77	Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen...	OMIM:617304
Moyamoya Disease 1	Telangiectasia, Inflammatory arteriopathy	OMIM:252350
Bardet-Biedl Syndrome 2	Dilated cardiomyopathy, Rod-cone dystrophy, Retinal degeneration	OMIM:615981
Congenital Glaucoma	Retinal detachment	ORPHA:98976
Oguchi Disease	Mizuo phenomenon, Macular degeneration, Rod-cone dystrophy, Congenital stationary night blindness	ORPHA:75382
Newfoundland Rod-Cone Dystrophy	Bone spicule pigmentation of the retina, Retinal dystrophy	OMIM:607476
Leber Hereditary Optic Neuropathy	Optic atrophy, Retinal vascular tortuosity, Arrhythmia, Ventricular preexcitation, Retinal telang...	ORPHA:104
Bardet-Biedl Syndrome 16	Rod-cone dystrophy, Retinal degeneration	OMIM:615993
Retinitis Pigmentosa 1	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:180100
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Facial palsy, Abnormality of retinal pigmentation	ORPHA:2743
Sjögren-Larsson Syndrome	Erythema, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmentatio...	ORPHA:816
Leber Congenital Amaurosis 9	Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal...	OMIM:608553
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
Familial Cylindromatosis	Telangiectasia of the skin	ORPHA:211
Leber Congenital Amaurosis 8	Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti...	OMIM:613835
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Cutis Marmorata Telangiectatica Congenita	Telangiectasia, Cutis marmorata, Retinal detachment, Hypertension	OMIM:219250
Kearns-Sayre Syndrome	Third degree atrioventricular block, Abnormality of retinal pigmentation	ORPHA:480
Retinitis Pigmentosa 41	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ...	OMIM:612095
Leber Congenital Amaurosis 4	Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy, Cone/cone-rod dystrophy	OMIM:604393
Exudative Vitreoretinopathy 5	Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment	OMIM:613310
Retinitis Pigmentosa 50	Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt...	OMIM:613194
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su...	OMIM:305390
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Retinal degeneration	ORPHA:3363
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Intellectual Developmental Disorder And Retinitis Pigmentosa	Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p...	OMIM:618195
Cutaneous Collagenous Vasculopathy	Erythema, Bruising susceptibility, Vascular skin abnormality, Petechiae, Diffuse telangiectasia, ...	ORPHA:280779
Familial Exudative Vitreoretinopathy	Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac...	ORPHA:891
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Telangiectasia of the skin, Cutaneous photosensitivity, Retinal telangiectasia	ORPHA:438134
Bardet-Biedl Syndrome 21	Retinal thinning, Hyperautofluorescent macular lesion, Cone/cone-rod dystrophy, Hypoplasia of the...	OMIM:617406
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem...	ORPHA:179
Senior-Loken Syndrome	Hypertension, Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Stickler Syndrome, Type I, Nonsyndromic Ocular	Rhegmatogenous retinal detachment, Optically empty vitreous	OMIM:609508
Retinitis Pigmentosa 12	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:600105
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment	OMIM:147610
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r...	OMIM:604116
Retinitis Pigmentosa 58	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:613617
Capillary Malformation-Arteriovenous Malformation 2	Telangiectasia	OMIM:618196
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V...	OMIM:193235
Spinocerebellar Ataxia 7	Optic atrophy, Pigmentary retinopathy, Macular degeneration	OMIM:164500
Retinitis Pigmentosa 10	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:180105
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Retinal arterial macroaneurysms, Exudative retinal detachment	OMIM:614224
Retinitis Pigmentosa 46	Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:612572
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Vitreoretinal Degeneration, Snowflake Type	Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous	OMIM:193230
Eem Syndrome	Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy	ORPHA:1897
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Retinitis Pigmentosa 2	Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degeneration, Rod-c...	OMIM:312600
Exudative Vitreoretinopathy 1	Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre...	OMIM:133780
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy	OMIM:615147
Familial Multiple Trichoepithelioma	Telangiectasia of the skin	ORPHA:867
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma	ORPHA:2196
Cofs Syndrome	Optic atrophy, Cutaneous photosensitivity, Abnormality of retinal pigmentation	ORPHA:1466
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Coloboma Of Macula	Macular coloboma	OMIM:120300
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Telangiectasia, Optic atrophy, Telangiectasia of the skin, Hypertrophic cardiomyopathy	ORPHA:79279
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials	ORPHA:141
Telangiectasia, Hereditary Benign	Diffuse telangiectasia	OMIM:187260
Leber Congenital Amaurosis 1	Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc drusen	OMIM:204000
Irvan Syndrome	Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ...	ORPHA:209943
Cone-Rod Dystrophy 20	Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy	OMIM:615973
Cone-Rod Dystrophy 8	Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Abnormali...	OMIM:605549
Moyamoya Disease	Telangiectasia	ORPHA:2573
Retinitis Pigmentosa 56	Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig...	OMIM:613581
Leber Congenital Amaurosis	Abnormal optic disc morphology, Abnormality of retinal pigmentation	ORPHA:65
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy, Optic atrophy, Retinal degeneration	OMIM:300438
Retinitis Pigmentosa 83	Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous floaters, Cystoid macular edema...	OMIM:618173
Choroidal Atrophy-Alopecia Syndrome	Ectodermal dysplasia, Patchy atrophy of the retinal pigment epithelium, Abnormality of retinal pi...	ORPHA:1433
Rombo Syndrome	Facial telangiectasia	OMIM:180730
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Mucolipidosis Iv	Optic atrophy, Cerebellar atrophy, Retinal degeneration	OMIM:252650
Bardet-Biedl Syndrome 3	Tricuspid regurgitation, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Abetalipoproteinemia	Retinopathy, Retinal degeneration	OMIM:200100
Jalili Syndrome	Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph...	OMIM:217080
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Retinitis Pigmentosa 51	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:613464
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Retinitis Pigmentosa 43	Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re...	OMIM:613810
Retinitis Pigmentosa 49	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:613756
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hypertrophic cardiomyopathy, Pigmentary retinopathy, Congestive heart failure, Wolff-Parkinson-Wh...	OMIM:618234
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1390
Cataract 50 With Or Without Glaucoma	Retinal detachment	OMIM:620253
Retinitis Pigmentosa 25	Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret...	OMIM:602772
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Nephronophthisis 9	Retinal degeneration	OMIM:613824
Poretti-Boltshauser Syndrome	Retinal atrophy, Retinal dystrophy, Retinal thinning	OMIM:615960
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal exudate, Macular edema, Gastrointestinal hemorrhage, Punctate vasculitis skin lesions, Te...	OMIM:192315
Cutaneous Mastocytoma	Erythema, Hypotension, Telangiectasia macularis eruptiva perstans, Dermatographic urticaria, Angi...	ORPHA:79455
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:264470
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:300029
Non-Involuting Congenital Hemangioma	Telangiectasia of the skin, Subcutaneous calcification, Prominent superficial veins, Congestive h...	ORPHA:141179
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Waardenburg-Shah Syndrome	Abnormal macular morphology, Premature graying of hair, White forelock, Abnormality of retinal pi...	ORPHA:897
Facioscapulohumeral Muscular Dystrophy 1	Exudative retinal detachment, Facial palsy, Retinal telangiectasia	OMIM:158900
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Vitritis, Vitreous floaters, Abnormal chorioretinal morphology	OMIM:605808
Cone-Rod Dystrophy 10	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610283
Eales Disease	Epistaxis, Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epir...	ORPHA:40923
Vitreoretinochoroidopathy	Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio...	OMIM:193220
Narp Syndrome	Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d...	ORPHA:644
Retinitis Pigmentosa 23	Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Abs...	OMIM:300424
Hydroa Vacciniforme	Erythema, Telangiectasia of the skin, Cutaneous photosensitivity, Hydroa vacciniforme	ORPHA:330058
Retinal Cone Dystrophy 3B	Macular atrophy, Cone/cone-rod dystrophy	OMIM:610356
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Hypertrophic cardiomyopathy, Optic atrophy, Retinal degeneration	OMIM:616896
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
Ceroid Lipofuscinosis, Neuronal, 10	Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, Retinal atr...	OMIM:610127
Cerebral Cavernous Malformations 2	Telangiectasia, Cerebral hemorrhage	OMIM:603284
Coats Disease	Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology	ORPHA:190
Congenital Disorder Of Glycosylation, Type Ie	Telangiectasia, Optic atrophy, Retinopathy, Abnormal macular morphology	OMIM:608799
Anonychia With Flexural Pigmentation	Hypermelanotic macule, Axillary and groin hyperpigmentation and hypopigmentation, Macular telangi...	ORPHA:69125
Stickler Syndrome Type 2	Abnormal vitreous humor morphology, Retinal detachment, Retinopathy	ORPHA:90654
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Cardiomyopathy, Retinal degeneration, Cone/cone-rod dystrophy, Arrhythmia	OMIM:249270
Spastic Paraplegia 11, Autosomal Recessive	Degeneration of the lateral corticospinal tracts, Cerebral cortical atrophy, Macular degeneration...	OMIM:604360
Retinitis Pigmentosa 60	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:613983
Ataxia With Vitamin E Deficiency	Hypertrophic cardiomyopathy, Arrhythmia, Abnormality of retinal pigmentation, Abnormality of visu...	ORPHA:96
Rapidly Involuting Congenital Hemangioma	Telangiectasia of the skin, Subcutaneous calcification, Prominent superficial veins, Congestive h...	ORPHA:141184
Xeroderma Pigmentosum Variant	Hypopigmentation of the skin, Freckles in sun-exposed areas, Telangiectasia, Hyperpigmentation of...	ORPHA:90342
Retinitis Pigmentosa 14	Optic disc pallor, Rod-cone dystrophy, Retinal arteriolar constriction, Bone spicule pigmentation...	OMIM:600132
Juvenile Paget Disease	Optic atrophy, Melanocytic nevus, Hypertension, Abnormality of retinal pigmentation	ORPHA:2801
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Cutis marmorata, Hypertension, Telangiectases producing 'marbled' skin	OMIM:206570
Myopia 3, Autosomal Dominant	Retinal detachment	OMIM:603221
Myopia 25, Autosomal Dominant	Retinal detachment	OMIM:617238
Myopia 2, Autosomal Dominant	Retinal detachment	OMIM:160700
Myopia 5, Autosomal Dominant	Retinal detachment	OMIM:608474
Retinitis Punctata Albescens	Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ...	ORPHA:52427
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Sjogren-Larsson Syndrome	Macular degeneration, Retinal thinning, Macular dots, Retinal pigment epithelial atrophy, Macular...	OMIM:270200
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Cerebral cortical atrophy, Choroidal neovascularization, Macular degeneration	ORPHA:404451
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Cone-Rod Dystrophy 2	Chorioretinal atrophy, Macular hyperpigmentation, Cone/cone-rod dystrophy, Bone spicule pigmentat...	OMIM:120970
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Exudative Vitreoretinopathy 6	Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d...	OMIM:616468
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve...	ORPHA:364055
Myopia 28, Autosomal Recessive	Retinal detachment	OMIM:619781
Bardet-Biedl Syndrome 9	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:615986
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Limited Cutaneous Systemic Sclerosis	Hypopigmented skin patches, Telangiectasia of the skin, Pulmonary arterial hypertension, Abnormal...	ORPHA:220402
Congenital Toxoplasmosis	Jaundice, Abnormality of retinal pigmentation	ORPHA:858
Telangiectasia, Hereditary Hemorrhagic, Type 5	Telangiectasia, Portal hypertension, Spontaneous, recurrent epistaxis	OMIM:615506
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Chorioretinal atrophy, Abnormality of retinal pigmentation, Retinopa...	ORPHA:5
Cone-Rod Dystrophy And Hearing Loss 1	Retinal atrophy, Macular degeneration	OMIM:617236
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Attenuation of retinal...	OMIM:619260
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Retinopathy, Macular atrophy, Optic disc pallor	OMIM:616171
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Retinal dysplasia	OMIM:614830
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic...	ORPHA:79434
Hypotrichosis With Juvenile Macular Degeneration	Abnormality of macular pigmentation, Macular degeneration, Melanocytic nevus, Freckling	ORPHA:1573
Retinitis Pigmentosa 37	Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:611131
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy	OMIM:616722
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1173
Retinitis Pigmentosa 72	Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret...	OMIM:616469
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Abnormal atrioventricular conduction, Pigmentary retinopathy, Cardiomyopathy	ORPHA:329336
Alg6-Cdg	Jaundice, Rod-cone dystrophy, Retinal degeneration	ORPHA:79320
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Retinitis Pigmentosa 97	Macular degeneration, Rod-cone dystrophy	OMIM:620422
Coats Disease	Retinal telangiectasia, Exudative retinal detachment	OMIM:300216
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Hypertrophic cardiomyopathy, Optic atrophy, Pigmentary retinopathy, Dilated cardiomyopathy	OMIM:252011
Refsum Disease, Classic	Cardiomyopathy, Congestive heart failure, Retinal degeneration, Arrhythmia, Rod-cone dystrophy	OMIM:266500
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Retinal degeneration, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr...	ORPHA:542306
Late-Onset Retinal Degeneration	Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Epiretinal me...	ORPHA:67042
Retinal Dystrophy With Or Without Macular Staphyloma	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Retinal pigment ep...	OMIM:617547
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:617023
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Acute Zonal Occult Outer Retinopathy	Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar...	ORPHA:284454
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Zika Virus Disease	Retinal pigment epithelial mottling, Optic disc hypoplasia, Subcutaneous hemorrhage, Chorioretina...	ORPHA:448237
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy, Pulmonary arterial hypertension	OMIM:619059
Desmoid Tumor	Gastrointestinal hemorrhage, Abnormality of retinal pigmentation	ORPHA:873
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Aceruloplasminemia	Retinal degeneration	OMIM:604290
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Retinitis Pigmentosa And Erythrocytic Microcytosis	Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess...	OMIM:616959
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Optic atrophy, Cutis marmorata, Cerebral ischemia, Arrhythmia, Telangiectasia of the skin, Hyperm...	ORPHA:60040
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Macular edema, Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis skin lesions, Tel...	ORPHA:247691
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Congenital Sialidosis Type 2	Optic atrophy, Cherry red spot of the macula, Abnormal EKG, Petechiae, Hypoplasia of the fovea, T...	ORPHA:93400
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Facial palsy	ORPHA:370968
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Pigmentary retinopathy, Tachycardia, Retinal degeneration	ORPHA:79264
Acrogeria	Telangiectasia of the skin, Prematurely aged appearance, Irregular hyperpigmentation, Excessive w...	ORPHA:2500
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Retinal atrophy, Retinal dystrophy	ORPHA:370022
Bietti Crystalline Corneoretinal Dystrophy	Chorioretinal atrophy, Retinal degeneration	OMIM:210370
Autosomal Recessive Spastic Paraplegia Type 15	Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks	ORPHA:100996
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigment...	OMIM:609033
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Pigmentary retinopathy, Progeroid facial appearance, Attenuation of retinal blood ...	OMIM:300578
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation	ORPHA:3085
Bardet-Biedl Syndrome 17	Retinal degeneration, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Rod-cone ...	OMIM:615994
Neurocutaneous Melanocytosis	Chorioretinal coloboma, Melanocytic nevus, Generalized hyperpigmentation, Abnormality of retinal ...	ORPHA:2481
Exudative Vitreoretinopathy 4	Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d...	OMIM:601813
Spastic Paraplegia 15, Autosomal Recessive	Macular degeneration, Retinal degeneration	OMIM:270700
Scheie Syndrome	Aortic valve stenosis, Aortic regurgitation, Mitral stenosis, Retinal degeneration	OMIM:607016
Ataxia-Telangiectasia	Premature graying of hair, Telangiectasia of the skin, Multiple cafe-au-lait spots, Hypopigmentat...	ORPHA:100
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Telangiectases of the cheeks, Livedo	OMIM:615139
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy, Facial palsy, Left ventricular systolic dysfunction	OMIM:613156
Cone-Rod Dystrophy 6	Attenuation of retinal blood vessels, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicul...	OMIM:601777
Hypobetalipoproteinemia, Familial, 1	Rod-cone dystrophy, Retinal degeneration	OMIM:615558
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy	ORPHA:578
Senior-Loken Syndrome 9	Macular degeneration, Rod-cone dystrophy, Retinal dystrophy	OMIM:616629
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Chromosome 16Q12 Duplication Syndrome	Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial mottling, T...	OMIM:619649
Retinitis Pigmentosa	Optic atrophy, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Retinal...	ORPHA:791
Hsd10 Disease, Infantile Type	Optic atrophy, Frontotemporal cerebral atrophy, Cerebral atrophy, Neurodegeneration, Retinal dege...	ORPHA:391428
Ramon Syndrome	Telangiectasia, Optic disc pallor, Pigmentary retinopathy, Angiokeratoma	OMIM:266270
Pseudoxanthoma Elasticum	Choroidal neovascularization, Macular degeneration, Restrictive cardiomyopathy, Gastrointestinal ...	OMIM:264800
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Retinal pigment epithelial mottling	OMIM:219900
Congenital Rubella Syndrome	Jaundice, Abnormality of retinal pigmentation	ORPHA:290
Chromosome 6Pter-P24 Deletion Syndrome	Telangiectasia, Pigmentary retinopathy	OMIM:612582
Arthrogryposis, Distal, Type 5	Retinal fold, Abnormality of retinal pigmentation	OMIM:108145
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Bruising susceptibility, Angioid streaks...	ORPHA:758
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:268020
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2518
Combined Oxidative Phosphorylation Deficiency 59	Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection fraction, Congestive hear...	OMIM:620646
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Brain atrophy, Cerebral atrophy, Retinal degeneration	ORPHA:442835
Leigh Syndrome, Nuclear	Optic atrophy, Pigmentary retinopathy	OMIM:256000
Retinitis Pigmentosa 74	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:616562
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:216866
Vici Syndrome	Optic atrophy, Hypopigmentation of the skin, Cardiomyopathy, Abnormal macular morphology, Abnorma...	ORPHA:1493
Night Blindness, Congenital Stationary, Type 1B	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:257270
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal dystrophy, Retinal detachment, Chorioretinal coloboma, Macular atrophy	OMIM:212550
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration, Cerebellar atrophy	OMIM:619780
Werner Syndrome	Subcutaneous calcification, Premature graying of hair, Congestive heart failure, White forelock, ...	ORPHA:902
Joubert Syndrome 8	Prolonged neonatal jaundice, Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Developmental And Epileptic Encephalopathy 28	Optic atrophy, Cerebral atrophy, Retinal degeneration	OMIM:616211
Leber Congenital Amaurosis 15	Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ...	OMIM:613843
Isolated Succinate-Coq Reductase Deficiency	Abnormal atrioventricular conduction, Pigmentary retinopathy, Hypertrophic cardiomyopathy, Noncom...	ORPHA:3208
Necrobiosis Lipoidica	Erythema, Telangiectasia of the skin, Fragile skin	ORPHA:542592
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Telangiectasia, Erythema, Fragile skin, Cutaneous photosensitivity	ORPHA:158673
Transaldolase Deficiency	Telangiectasia, Premature skin wrinkling	ORPHA:101028
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Telangiectasia, Livedo, Facial telangiectasia	OMIM:614564
Partington Syndrome	Facial telangiectasia	ORPHA:94083
Joubert Syndrome 6	Chorioretinal coloboma, Retinal degeneration	OMIM:610688
Cutis Marmorata Telangiectatica Congenita	Subcutaneous hemorrhage, Cutis marmorata, Telangiectasia of the skin, Multiple cafe-au-lait spots...	ORPHA:1556
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Hypopigmented skin patches, Abnormal retinal vascular morphology, Abnormality of r...	ORPHA:2715
Refsum Disease	Abnormality of retinal pigmentation, Retinopathy, Cardiomyopathy, Heart block	ORPHA:773
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone...	ORPHA:436245
Pyruvate Dehydrogenase E2 Deficiency	Neurodegeneration, Retinal degeneration	ORPHA:79244
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy	OMIM:608629
Hennekam-Beemer Syndrome	Optic atrophy, Erythema, Irregular hyperpigmentation, Hypotension, Generalized hyperpigmentation,...	ORPHA:2135
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormality of pattern visual evoked potentials, Retinal degeneration, Rod-cone dystrophy, Heart ...	ORPHA:166035
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Macular degeneration, Cerebellar atrophy	ORPHA:284289
Werner Syndrome	Prematurely aged appearance, Subcutaneous calcification, Progeroid facial appearance, Retinal deg...	OMIM:277700
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Retinal degeneration	OMIM:615630
Mulibrey Nanism	Pigmentary retinopathy, Congestive heart failure	OMIM:253250
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
Pontocerebellar Hypoplasia, Type 2E	Optic atrophy, Facial telangiectasia	OMIM:615851
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Pigmentary retinopathy, Progeroid facial appearance, Decreased nerve conduction ve...	OMIM:610651
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities	Facial telangiectasia, Premature graying of hair	OMIM:620445
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral hemorrhage, Fingerpad telangiectases...	OMIM:600376
Schöpf-Schulz-Passarge Syndrome	Facial telangiectasia, Ectodermal dysplasia	ORPHA:50944
Late Infantile Neuronal Ceroid Lipofuscinosis	Abnormal amplitude of flash visual evoked potentials, Abnormality of visual evoked potentials, Re...	ORPHA:168491
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Mottled pigmentation of photoexposed areas	OMIM:560000
Macrophthalmia, Colobomatous, With Microcornea	Optic disc coloboma, Chorioretinal coloboma, Macular atrophy	OMIM:602499
Hemochromatosis, Type 1	Cardiomyopathy, Congestive heart failure, Telangiectasia, Arrhythmia, Hyperpigmentation of the skin	OMIM:235200
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Abnormal sensory nerve conduction velocity, Bone spicule pigmentation of ...	ORPHA:88628
Incontinentia Pigmenti	Erythema, Irregular hyperpigmentation, Hypopigmented skin patches, Congestive heart failure, Cere...	ORPHA:464
Micro Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Reti...	ORPHA:2510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Retinal degeneration	OMIM:615249
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal detachment, Retinal telangiectasia, Optic nerve hypoplasia	OMIM:620157
Kearns-Sayre Syndrome	Pigmentary retinopathy, Third degree atrioventricular block, Cardiomyopathy, Arrhythmia	OMIM:530000
Nephronophthisis 11	Retinal degeneration	OMIM:613550
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy, Cardiomyopathy	OMIM:222300
Multiple Sulfatase Deficiency	Optic atrophy, Abnormality of peripheral nerve conduction, Abnormality of retinal pigmentation	ORPHA:585
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Dilated cardiomyopathy, Poor wound healing, Cardiomyopathy, Mitral regurgitation, Telangiectasia ...	OMIM:212112
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Angioosteohypotrophic Syndrome	Telangiectasia of the skin, Prominent superficial veins	ORPHA:75508
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Arteritis, Abnormal optic nerve morphology, Ischemic stroke, Telangi...	ORPHA:679
Congenital Bile Acid Synthesis Defect Type 4	Hematochezia, Pigmentary retinopathy	ORPHA:79095
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Cardiomyopathy, Retinopathy, Retinal degeneration, Severely reduced left ve...	OMIM:252600
Prolidase Deficiency	Erythema, Cutaneous photosensitivity, White forelock, Abnormality of retinal pigmentation	ORPHA:742
Tempi Syndrome	Telangiectasia, Intracranial hemorrhage, Facial erythema	ORPHA:284227
Aceruloplasminemia	Congestive heart failure, Macular degeneration, Abnormality of retinal pigmentation, Retinal dege...	ORPHA:48818
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Retinal detachment, Hypoplastic optic chiasm, Retinal coloboma	OMIM:615113
Paget Disease Of Bone 5, Juvenile-Onset	Angioid streaks of the fundus, Retinopathy, Macular scar, Retinal degeneration	OMIM:239000
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Gastrointestinal hemorrhage, Pulmonary embolism, Subcutaneous hemorrhage, Cerebral...	ORPHA:394
Multiple Sulfatase Deficiency	Cerebellar atrophy, Cerebral atrophy, Retinal degeneration	OMIM:272200
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia	OMIM:609015
Reynolds Syndrome	Irregular hyperpigmentation, Generalized abnormality of skin, Telangiectasia of the skin, Jaundic...	ORPHA:779
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Epidermodysplasia Verruciformis	Telangiectasia of the skin, Multiple cafe-au-lait spots, Hypopigmented skin patches	ORPHA:302
Bannayan-Riley-Ruvalcaba Syndrome	Irregular hyperpigmentation, Abnormal optic nerve morphology, Subcutaneous hemorrhage, Cutis marm...	ORPHA:109
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling	OMIM:614105
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Retinal atrophy, ...	ORPHA:85167
De Sanctis-Cacchione Syndrome	Telangiectasia, Optic atrophy, Hypermelanotic macule, Cutaneous photosensitivity	OMIM:278800
Xeroderma Pigmentosum	Optic atrophy, Erythema, Hypopigmented skin patches, Melanocytic nevus, Conjunctival telangiectas...	ORPHA:910
Axial Spondylometaphyseal Dysplasia	Optic atrophy, Peripheral retinal degeneration, Rod-cone dystrophy, Retinal dystrophy	ORPHA:168549
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Pigmentary retinopathy, Optic atrophy	OMIM:617282
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Hereditary Hemorrhagic Telangiectasia	Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Spontaneous hematomas, Tongue telangi...	ORPHA:774
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy	OMIM:600462
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Hypoautofluorescent retinal lesion, Cafe-au-lait spot, Rod-cone dystrophy, Retinal degeneration	OMIM:250410
Sting-Associated Vasculopathy, Infantile-Onset	Erythema, Cutis marmorata, Telangiectasia, Livedo reticularis, Raynaud phenomenon	OMIM:615934
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Macular degeneration, Angioid streaks of the fundus, Angina pectoris...	OMIM:177850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Retinal dysplasia, Pigmentary retinopathy	OMIM:613154
Pulmonary Arteriovenous Malformation	Epistaxis, Transient ischemic attack, Pulmonary hemorrhage, Palpitations, Hemothorax, Ischemic st...	ORPHA:2038
Usher Syndrome	Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology, Abnormality of retinal pi...	ORPHA:886
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ...	ORPHA:1969
Cohen Syndrome	Chorioretinal dystrophy, Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the ...	OMIM:216550
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie...	OMIM:187300
Developmental Delay, Language Impairment, And Ocular Abnormalities	Facial telangiectasia, Pulmonic stenosis	OMIM:620141
Xeroderma Pigmentosum, Complementation Group C	Telangiectasia, Hypopigmentation of the skin, Cutaneous photosensitivity, Freckling	OMIM:278720
Senior-Loken Syndrome 8	Retinal dystrophy, Rod-cone dystrophy, Macular atrophy	OMIM:616307
Ataxia-Telangiectasia-Like Disorder 2	Conjunctival telangiectasia, Cutaneous telangiectasia, Cutaneous photosensitivity, Progeroid faci...	OMIM:615919
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Pigmentary retinopathy, Bull's eye maculopathy, Pallidal degeneration, Retinal fle...	ORPHA:157850
Scleroderma, Familial Progressive	Telangiectasia	OMIM:181750
Fabry Disease	Optic atrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bun...	ORPHA:324
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Portal hypertension, Retinal telangiectasia, Premature graying of hair	OMIM:617341
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hypertrophic cardiomyopathy, Optic atrophy, Pigmentary retinopathy	ORPHA:436271
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Mitral...	ORPHA:746
Peroxisome Biogenesis Disorder 2A (Zellweger)	Jaundice, Pigmentary retinopathy, Brushfield spots, Optic nerve dysplasia	OMIM:214110
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Retinal atrophy, Corpus callosum atrophy, Parietal cortical atrophy, Cerebellar atrophy	ORPHA:412057
Carcinoid Syndrome	Right ventricular failure, Tricuspid regurgitation, Palpitations, Facial telangiectasia, Heart mu...	ORPHA:100093
Acute Radiation Syndrome	Telangiectasia, Hypotension, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:454831
Bardet-Biedl Syndrome 1	Hyperautofluorescent macular lesion, Attenuation of retinal blood vessels, Retinal degeneration, ...	OMIM:209900
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Congestive heart failure	OMIM:309900
Livedoid Vasculopathy	Hyperpigmented streaks, Poor wound healing, Macular purpura, Cutis marmorata, Ischemic stroke, Ec...	ORPHA:542643
Maternal Uniparental Disomy Of Chromosome 2	Retinal degeneration	ORPHA:96179
Prolidase Deficiency	Prolonged neonatal jaundice, Diffuse telangiectasia, Petechiae	OMIM:170100
Hallermann-Streiff Syndrome	Optic disc coloboma, Chorioretinal coloboma, Telangiectasia, Pulmonary arterial hypertension, Hyp...	OMIM:234100
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Chorioreti...	OMIM:618733
Autosomal Recessive Spastic Paraplegia Type 11	Abnormality of pattern visual evoked potentials, Orthostatic hypotension, Retinal degeneration	ORPHA:2822
Xeroderma Pigmentosum, Variant Type	Freckles in sun-exposed areas, Cutaneous photosensitivity, Cutaneous telangiectasia	OMIM:278750
Juvenile Dermatomyositis	Erythema, Gastrointestinal hemorrhage, Vasculitis, Cardiomyopathy, Bundle branch block, Angina pe...	ORPHA:93672
Ectopia Lentis Et Pupillae	Retinal detachment	OMIM:225200
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hypertrophic cardiomyopathy, Optic atrophy, Pigmentary retinopathy	OMIM:220110
Ataxia-Telangiectasia-Like Disorder 1	Telangiectasia	OMIM:604391
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Cerebral cortical atrophy, Corpus callosum atrophy, Retinal degeneration	OMIM:248500
Systemic Sclerosis	Intestinal bleeding, Irregular hyperpigmentation, Right ventricular failure, Nail bed telangiecta...	ORPHA:90291
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Pigmentary retinopathy, Prolonged QT interval, Dilated cardiomyopathy	ORPHA:71212
Adiposis Dolorosa	Telangiectasia of the skin, Bruising susceptibility	ORPHA:36397
Papillorenal Syndrome	Macular degeneration, Optic disc coloboma, Retinal coloboma, Chorioretinal atrophy, Macular hyper...	OMIM:120330
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Cerebellar cortical atrophy, Macular degeneration, Abnormal cranial nerve morphology, Abnormal au...	ORPHA:247234
Xeroderma Pigmentosum, Complementation Group E	Telangiectasia, Cutaneous photosensitivity	OMIM:278740
Bloom Syndrome	Hypopigmentation of the skin, Retinopathy, Telangiectasia, Cutaneous photosensitivity, Cafe-au-la...	ORPHA:125
Lig4 Syndrome	Erythema, Telangiectasia of the skin, Cutaneous photosensitivity	ORPHA:99812
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy	ORPHA:502423
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Abnormality of macular pigmentation, Optic disc coloboma, Retinal thinning, Cone/cone-rod dystrop...	OMIM:608940
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Pulmonary embolism, S...	ORPHA:79282
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Facial telangiectasia in butterfly midface distribution, Telangiectasia of extensor surfaces, Red...	OMIM:137940
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Mitral regurgitation, Pulmonary arterial hypertension, Hyperpig...	OMIM:230800
Lig4 Syndrome	Telangiectasia, Cutaneous photosensitivity	OMIM:606593
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Telangiectasia of the skin	OMIM:615381
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy	OMIM:617675
Neuroendocrine Tumor Of The Colon	Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Facial telangiecta...	ORPHA:100080
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Lip telangiectasia, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Angiokeratoma ...	ORPHA:79280
Transaldolase Deficiency	Telangiectasia	OMIM:606003
Antiphospholipid Syndrome, Familial	Central retinal artery occlusion, Retinal detachment, Retinal vasculitis, Vitritis	OMIM:107320
Bronchial Neuroendocrine Tumor	Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Palpitations,...	ORPHA:97287
Cockayne Syndrome Type 1	Optic atrophy, Pigmentary retinopathy, Progeroid facial appearance, Abnormality of peripheral ner...	ORPHA:90321
Rabin-Pappas Syndrome	Retinal detachment, Retinal telangiectasia, Optic nerve hypoplasia	OMIM:620155
Xeroderma Pigmentosum, Complementation Group A	Telangiectasia, Hypermelanotic macule, Cutaneous photosensitivity	OMIM:278700
Spinocerebellar Ataxia Type 7	Macular degeneration, Cerebellar atrophy, Cerebral atrophy, Abnormal fundus morphology, Cone/cone...	ORPHA:94147
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:96180
Antisynthetase Syndrome	Aortic regurgitation, Pulmonary arterial hypertension, Telangiectasia of the skin, Myocarditis	ORPHA:81
Hurler Syndrome	Aortic regurgitation, Mitral regurgitation, Cardiomyopathy, Retinal degeneration	OMIM:607014
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Pigmentary retinopathy, Vitiligo, Perifoveal ring of hyperautofluorescence	OMIM:240300
Neuroendocrine Tumor Of The Rectum	Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Faci...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Faci...	ORPHA:100082
Focal Dermal Hypoplasia	Abnormality of skin pigmentation, Telangiectasia of the skin, Chorioretinal coloboma, Erythema	ORPHA:2092
Cohen Syndrome	Chorioretinal dystrophy, Optic atrophy, Abnormality of retinal pigmentation, Abnormality of skin ...	ORPHA:193
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Hypertensive crisis, Pulmonary arterial hypertension, Congestive hear...	ORPHA:220393
Hyperphosphatasia-Intellectual Disability Syndrome	Telangiectasia, Aganglionic megacolon	ORPHA:247262
Trichothiodystrophy 1, Photosensitive	Telangiectasia, Cutaneous photosensitivity, Freckling	OMIM:601675
Coffin-Lowry Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:192
Poikiloderma With Neutropenia	Telangiectasia, Reticular hyperpigmentation	OMIM:604173
Retinoblastoma	Hyphema, Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation, Retinobla...	ORPHA:790
Knobloch Syndrome	Abnormal vitreous humor morphology, Macular degeneration, Retinal detachment, Vitreoretinopathy	ORPHA:1571
Xeroderma Pigmentosum, Complementation Group D	Telangiectasia, Cutaneous photosensitivity, Corneal neovascularization	OMIM:278730
Kniest Dysplasia	Vitreoretinopathy, Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degener...	ORPHA:485
Infantile Systemic Hyalinosis	Telangiectasia of the skin, Hyperpigmentation of the skin, Urticaria	ORPHA:2176
Cockayne Syndrome A	Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Retinal pigment epith...	OMIM:216400
Atypical Werner Syndrome	Aortic valve stenosis, Subcutaneous calcification, Progeroid facial appearance, Premature graying...	ORPHA:79474
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Telangiectasia of the skin	ORPHA:85321
Aicardi Syndrome	Optic atrophy, Optic disc coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation, ...	ORPHA:50
Microphthalmia With Linear Skin Defects Syndrome	Erythema, Dilated cardiomyopathy, Hypopigmented skin patches, Hypertrophic cardiomyopathy, Tricus...	ORPHA:2556
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Abnormal optic nerve morphology, Retinopathy, Abnormality of retinal pigmentation,...	ORPHA:2526
Melas	Optic atrophy, Pigmentary retinopathy, Erythema, Dilated cardiomyopathy, Cardiomyopathy, Concentr...	ORPHA:550
Cockayne Syndrome Type 3	Subdural hemorrhage, Cardiomyopathy, Premature graying of hair, Abnormality of peripheral nerve c...	ORPHA:90324
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mi...	ORPHA:505248
Norrie Disease	Retinal fold, Optic atrophy, Retinal dysplasia, Retinal detachment	OMIM:310600
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Cutis marmorata, Plantar telangiectasia, Palmar telangiectasia	ORPHA:69735
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Vascular skin abnormality, Congestive heart failure, Cerebral ischemia, High-output co...	ORPHA:137667
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Pigmentary retinopathy, Global brain atrophy, Neurodegeneration, Retinal degenerat...	OMIM:234200
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Jaundice, Vitiligo, Spider hemangioma	ORPHA:2137
Chédiak-Higashi Syndrome	Iris hypopigmentation, Epistaxis, Hypopigmentation of the skin, Spotty hyperpigmentation, Bruisin...	ORPHA:167
Cancer-Associated Retinopathy	Diffuse cerebellar atrophy, Optic atrophy, Foveal hyporeflective spaces on macular OCT, Retinal a...	ORPHA:71505
Neuroendocrine Tumor Of Stomach	Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Palpitations,...	ORPHA:100075
Mucopolysaccharidosis Type 2	Optic atrophy, Cardiomyopathy, Decreased nerve conduction velocity, Retinopathy, Abnormality of r...	ORPHA:580
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Pigmentary retinopathy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardi...	ORPHA:255210
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Jaundice, Pulmonary insufficiency, Retinal degeneration	OMIM:208500
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy	OMIM:614230
Trichothiodystrophy	Macular degeneration, Cardiomyopathy, Numerous pigmented freckles, Retinal degeneration, Prematur...	ORPHA:33364
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Retinal degeneration	OMIM:618479
Arterial Tortuosity Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Telangiectasia of ...	ORPHA:3342
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Hypoplasia of the retina, Retinal degeneration, Retinal atrophy, Enlarged flash vi...	OMIM:253280
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Optic atrophy, Pigmentary retinopathy, Tricuspid regurgitation, Heart murmu...	OMIM:614866
Riddle Syndrome	Conjunctival telangiectasia, Erythema, Intraventricular hemorrhage, Telangiectasia	ORPHA:420741
Congenital Primary Aphakia	Retinal dysplasia, Retinal detachment, Optic disc coloboma	ORPHA:83461
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Retinal atrophy, Retinal detachment, Retinal dysplasia, Optic nerve hypoplasia	OMIM:236670
Alagille Syndrome	Telangiectasia of the skin, Hypertension	ORPHA:52
Cockayne Syndrome	Optic atrophy, Pigmentary retinopathy, Retinal arteriolar constriction, Premature skin wrinkling,...	ORPHA:191
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Optic atrophy, Intestinal bleeding, Premature graying of hair, Exudative retinopathy, Gastrointes...	OMIM:612199
Peroxisome Biogenesis Disorder 1A (Zellweger)	Prolonged neonatal jaundice, Optic disc pallor, Pigmentary retinopathy, Brushfield spots	OMIM:214100
Mucopolysaccharidosis Type 3	Optic atrophy, Pigmentary retinopathy, Atrioventricular block, Reduced left ventricular ejection ...	ORPHA:581
Cockayne Syndrome B	Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Progeroid facial appe...	OMIM:133540
Primary Hepatic Neuroendocrine Carcinoma	Right ventricular failure, Palpitations, Facial telangiectasia, Intermittent jaundice, Heart murmur	ORPHA:100085
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Rod-cone dystrophy	OMIM:300455
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypotension, Pigmentary retinopathy, Pulmonary arterial hypertension, Bradycardia, Tachycardia, C...	OMIM:277400
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Progressive vitiligo, Cafe-au-lait spot, Retinal pigment epithelial ...	OMIM:251260
Abetalipoproteinemia	Abnormality of retinal pigmentation, Hypopigmentation of the fundus, Rod-cone dystrophy, Congesti...	ORPHA:14
Hereditary Acrokeratotic Poikiloderma	Erythema, Irregular hyperpigmentation, Hypopigmented skin patches, Telangiectasia of the skin, Ur...	ORPHA:2907
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Abnormal motor nerve conduction veloci...	ORPHA:466768
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Cardiomyopathy, Abnormality of retinal pigmentation, Retinopathy, Arrhythmia, Papi...	ORPHA:217085
Cartilage-Hair Hypoplasia	Aganglionic megacolon, Abnormality of retinal pigmentation, Cardiomyopathy, Heart block	ORPHA:175
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Pigmentary retinopathy, Histiocytoid cardiomyopathy, Arrhythmia	OMIM:309801
9Q33.3Q34.11 Microdeletion Syndrome	Telangiectasia, Epistaxis	ORPHA:495818
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Cardiomyopathy, Abnormality of retinal pigmentation, Retinopathy, Arrhythmia, Papi...	ORPHA:217093
Alstrom Syndrome	Pigmentary retinopathy, Dilated cardiomyopathy, Congestive heart failure, Attenuation of retinal ...	OMIM:203800
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Mitral regurgitation, Dilated cardiomyopathy, Retinal pigment epithelial mottling	OMIM:607459
Arterial Tortuosity Syndrome	Aortic valve stenosis, Aortic regurgitation, Progeroid facial appearance, Bruising susceptibility...	OMIM:208050
Kindler Syndrome	Spotty hyperpigmentation, Spotty hypopigmentation, Telangiectasia of the skin, Fragile skin, Cuta...	OMIM:173650
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Telangiectasia of the skin	OMIM:616007
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Mucosal telangiectasiae	ORPHA:2463
Trisomy 18	Abnormality of retinal pigmentation	ORPHA:3380
Dermatomyositis	Erythema, Vasculitis, Shawl sign, Sinus tachycardia, V-sign, Cutaneous photosensitivity, Arrhythm...	ORPHA:221
1P36 Deletion Syndrome	Telangiectasia, Optic atrophy, Dilated cardiomyopathy, Ocular albinism	ORPHA:1606
Martin-Probst Syndrome	Telangiectasia	OMIM:300519
Infantile Nephropathic Cystinosis	Pigmentary retinopathy	ORPHA:411629
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Telangiectases of the cheeks, Fragile skin	OMIM:616295
Rothmund-Thomson Syndrome, Type 2	Telangiectasia, Cutaneous photosensitivity, Premature graying of hair	OMIM:268400
Rothmund-Thomson Syndrome Type 1	Telangiectasia, Hypopigmentation of the skin, Facial erythema, Hyperpigmentation of the skin	ORPHA:221008
Khan-Khan-Katsanis Syndrome	Tricuspid regurgitation, Pigmentary retinopathy	OMIM:618460
Alport Syndrome	Macular degeneration, Hypertension, Retinal flecks	ORPHA:63
Lipodystrophy, Familial Partial, Type 7	Pigmentary retinopathy, Progeroid facial appearance, Facial wrinkling, Cutis marmorata, Decreased...	OMIM:606721
Farber Disease	Macular degeneration, Brain atrophy, Cherry red spot of the macula	ORPHA:333
Bloom Syndrome	Facial telangiectasia in butterfly midface distribution, Hypopigmentation of the skin, Cutaneous ...	OMIM:210900
Dyskeratosis Congenita	Hypopigmented skin patches, White hair, Premature graying of hair, Telangiectasia of the skin, Hy...	ORPHA:1775
H Syndrome	Abnormal cardiovascular system physiology, Hyperpigmentation of the skin, Facial telangiectasia	ORPHA:168569
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation	OMIM:272460
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic atrophy, Pigmentary retinopathy, Corneal neovascularization, Cone/cone-rod dystrophy, Optic...	ORPHA:404454
Xq21 Microdeletion Syndrome	Optic atrophy, Reticular pigmentary degeneration, Choroideremia, Chorioretinal degeneration, Hype...	ORPHA:1435
Focal Dermal Hypoplasia	Optic atrophy, Hypopigmentation of the skin, Chorioretinal coloboma, Linear hyperpigmentation, Re...	OMIM:305600
Neurofibromatosis Type 1	Inguinal freckling, Hypopigmented skin patches, Chorioretinal coloboma, Melanocytic nevus, Genera...	ORPHA:636
Aprosencephaly And Cerebellar Dysgenesis	Retinal dysplasia	OMIM:601374
Tubulointerstitial Nephritis And Uveitis Syndrome	Chorioretinal scar, Choroidal neovascularization, Macular edema, Abnormality of retinal pigmentat...	ORPHA:91500
Bohring-Opitz Syndrome	Optic atrophy, Retinal atrophy, Bradycardia	ORPHA:97297
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Telangiectasia, Epistaxis, Hematochezia, Mitral regurgitation	OMIM:175050
Histiocytosis-Lymphadenopathy Plus Syndrome	Facial telangiectasia, Pulmonary arterial hypertension, Hyperpigmentation of the skin, Hypertrich...	OMIM:602782
17Q11 Microdeletion Syndrome	Hypertrophic cardiomyopathy, Abnormal choroid morphology, Renovascular hypertension, Retinal vasc...	ORPHA:97685
Rothmund-Thomson Syndrome	Telangiectasia of the skin, Hypopigmentation of the skin, Reticular hyperpigmentation	ORPHA:2909
Osteopetrosis With Renal Tubular Acidosis	Optic atrophy, Cranial nerve compression, Retinal atrophy, Pulmonary arterial hypertension, Abnor...	ORPHA:2785
Mucolipidosis Type Ii	Abnormal atrioventricular valve physiology, Aortic regurgitation, White hair, Cardiomyopathy, Mit...	ORPHA:576
Primary Sclerosing Cholangitis	Spider hemangioma, Palmar telangiectasia, Congestive heart failure, Portal hypertension, Dilated ...	ORPHA:171
Say-Barber-Miller Syndrome	Optic atrophy, Macular degeneration, Rod-cone dystrophy	ORPHA:3132
Pearson Syndrome	Pigmentary retinopathy, Cardiomyopathy, Cutaneous photosensitivity, Cardiac conduction abnormalit...	ORPHA:699
Cystinosis, Nephropathic	Pigmentary retinopathy, Hypopigmentation of the skin, Retinal pigment epithelial mottling, Retino...	OMIM:219800
Proteus Syndrome	Retinal nonattachment, Irregular hyperpigmentation, Pulmonary embolism, Chorioretinal coloboma, C...	ORPHA:744
Vici Syndrome	Hypopigmentation of the skin, Dilated cardiomyopathy, Hypopigmentation of the fundus, Cardiomyopa...	OMIM:242840
Hemihyperplasia-Multiple Lipomatosis Syndrome	Telangiectasia of the skin	ORPHA:276280
Alagille Syndrome 1	Prolonged neonatal jaundice, Pigmentary retinopathy, Chorioretinal atrophy	OMIM:118450
Cowden Syndrome	Melanocytic nevus, Multiple cafe-au-lait spots, Hypopigmented skin patches, Mucosal telangiectasiae	ORPHA:201
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Macular degeneration, Fair hair, Attenuation of retinal blood vessels, Rod-cone dystrophy, Hypert...	OMIM:266920
Hardikar Syndrome	Pigmentary retinopathy, Portal hypertension, Hematemesis, Prolonged neonatal jaundice, Jaundice, ...	OMIM:301068
Glycogen Storage Disease Ic	Spider hemangioma, Pulmonary arterial hypertension, Hypertension	OMIM:232240
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Palmar telangiectasia	OMIM:607823
Telangiectasia, Hereditary Hemorrhagic, Type 4	Right-to-left shunt, Tongue telangiectasia, Transient ischemic attack, Ischemic stroke, Nasal muc...	OMIM:610655
Juvenile Polyposis Syndrome	Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Transient ischemic attack, Spontaneous, rec...	ORPHA:2929
Stickler Syndrome	Abnormal vitreous humor morphology, Arrhythmia, Retinal detachment, Retinal hole, Lattice retinal...	ORPHA:828
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Prolonged neonatal jaundice, Macular atrophy	OMIM:619418
Wiedemann-Rautenstrauch Syndrome	Optic atrophy, Pigmentary retinopathy, Increased subcutaneous truncal adipose tissue, Optic disc ...	ORPHA:3455
Reynolds Syndrome	Gastrointestinal hemorrhage, Palmar telangiectasia, Raynaud phenomenon, Lip telangiectasia, Jaundice	OMIM:613471
Vascular Ehlers-Danlos Syndrome	Bruising susceptibility, Melanocytic nevus, Transient ischemic attack, Renovascular hypertension,...	ORPHA:286
Alström Syndrome	Dilated cardiomyopathy, Congestive heart failure, Dorsocervical fat pad, Portal hypertension, Con...	ORPHA:64
Primary Ciliary Dyskinesia	Rod-cone dystrophy	ORPHA:244

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 Rpgr

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 Rpgr.

There are 13 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Detailed characterizations of cranial nerve anatomy in E14.5 mouse embryos/fetuses and their use as reference for diagnosing subtle, but potentially lethal malformations in mutants.	Frontiers in cell and developmental biology (November 2022)	Rpgrip1l^{tm1a(EUCOMM)Wtsi}	PMC9682249
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Rpgrip1l^{tm1a(EUCOMM)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Rpgrip1l^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Rpgrip1l^{tm1a(EUCOMM)Wtsi}	PMC6459510
Ciliary gene RPGRIP1L is required for hypothalamic arcuate neuron development.	JCI insight (February 2019)	Rpgrip1l^{tm1c(EUCOMM)Wtsi}	PMC6413800
Mks6 mutations reveal tissue- and cell type-specific roles for the cilia transition zone.	FASEB journal : official publication of the Federation of American Societies for Experimental Biology (August 2018)	Rpgrip1l^{tm1c(EUCOMM)Wtsi}	30133325
The role of Rpgrip1l, a component of the primary cilium, in adipocyte development and function.	FASEB journal : official publication of the Federation of American Societies for Experimental Biology (February 2018)	Rpgrip1l^{tm1c(EUCOMM)Wtsi} Rpgrip1l^{tm1a(EUCOMM)Wtsi}	29466054
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Rpgrip1l^{tm1a(EUCOMM)Wtsi}	PMC5827107
Cilia and Obesity.	Cold Spring Harbor perspectives in biology (July 2017)	Rpgrip1l^{tm1a(EUCOMM)Wtsi}	PMC5495057
Hypomorphism of Fto and Rpgrip1l causes obesity in mice.	The Journal of clinical investigation (April 2016)	Rpgrip1l^{tm1a(EUCOMM)Wtsi}	PMC4855930
Primary cilia in energy balance signaling and metabolic disorder.	BMB reports (December 2015)	Rpgrip1l^{tm1a(EUCOMM)Wisi}	PMC4791320
Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice.	Cell metabolism (May 2014)	Rpgrip1l^{tm1a(EUCOMM)Wtsi}	PMC4131684
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen.	Nature communications (April 2014)	Rpgrip1l^{tm1a(EUCOMM)Wtsi}	PMC3996542

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Rpgr^{tm40784(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Rpgr^{tm374079(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Rpgr^{tm40784(L1L2_st1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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