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Gene: Vldlr MGI:98935

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Gene Summary

Name:
very low density lipoprotein receptor
Synonyms:
N/A

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
blind uterus Vldlrem1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Vldlrem1(IMPC)Mbp HOM Early adult 0.00
decreased thigmotaxis Vldlrem1(IMPC)Mbp HOM Early adult 4.84×10-09
decreased anxiety-related response Vldlrem1(IMPC)Mbp HOM Early adult 1.51×10-08
abnormal behavior Vldlrem1(IMPC)Mbp HOM Early adult 5.24×10-09
abnormal spleen morphology Vldlrem1(IMPC)Mbp HOM Early adult 0.00
increased exploration in new environment Vldlrem1(IMPC)Mbp HOM Early adult 2.77×10-06
abnormal heart morphology Vldlrem1(IMPC)Mbp HOM Early adult 0.00
hyperactivity Vldlrem1(IMPC)Mbp HOM Early adult 3.47×10-12

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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 Lateral Orientation

37 Images

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X-ray

XRay Images Whole Body Dorso Ventral

75 Images

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Human diseases caused by Vldlr mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy OMIM:224050
Dysequilibrium Syndrome
ORPHA:1766

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy OMIM:215500
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
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
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Atherosclerosis Susceptibility
Myocardial infarction, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Macular Dystrophy, Retinal, 2
Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal... OMIM:608051
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor... ORPHA:97341
Choroideremia
Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm... OMIM:303100
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
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 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Hypoalphalipoproteinemia, Primary, 1
Myocardial infarction, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular... ORPHA:75377
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Retinitis Pigmentosa 54
Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina... OMIM:613428
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Cone-Rod Dystrophy 5
Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:600977
Retinitis Pigmentosa 40
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613801
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:620102
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy ORPHA:75373
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy OMIM:172870
Eales Disease
Epistaxis, Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularizatio... ORPHA:40923
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ... OMIM:618697
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Retinitis Pigmentosa 68
Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615725
Retinitis Pigmentosa 76
Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede... OMIM:617123
Retinitis Pigmentosa 7
Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys... OMIM:608133
Nystagmus 6, Congenital, X-Linked
Hypopigmentation of the fundus, Retinal pigment epithelial mottling OMIM:300814
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, R... OMIM:610951
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Leber Congenital Amaurosis With Early-Onset Deafness
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration OMIM:617879
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy, Corticospinal tract atrophy OMIM:551500
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:609923
Retinitis Pigmentosa 9
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy OMIM:180104
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis OMIM:610753
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy OMIM:617781
Retinitis Pigmentosa 90
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:619007
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Retinitis Pigmentosa 4
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme... OMIM:613731
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Retinitis Pigmentosa 84
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:618220
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Retinitis Pigmentosa 27
Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior... OMIM:613750
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Alopecia Universalis Congenita
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair OMIM:203655
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... OMIM:614500
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Retinitis Pigmentosa 6
Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy OMIM:312612
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Hypercholesterolemia, Myocardial infarction OMIM:608320
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Cone-Rod Dystrophy 24
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:620342
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:601718
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Alopecia Areata 1
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Cone-Rod Dystrophy 22
Hypoautofluorescent retinal lesion, Hyperautofluorescent macular lesion, Attenuation of retinal b... OMIM:619531
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro... ORPHA:85128
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Drusen, Macular dystrophy, Peripheral retinal atrophy OMIM:136550
Retinitis Pigmentosa 29
Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:612165
Retinitis Pigmentosa 79
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617460
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Cerebral atrophy, Abnormality of retinal pigmentation, Retinal detachment, Abnormal... OMIM:251270
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Retinal pigment epithelial mottling, Cerebellar vermis atrophy, Corpus callos... OMIM:619389
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Stargardt Disease
Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R... ORPHA:827
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... OMIM:304020
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Bietti Crystalline Dystrophy
Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a... ORPHA:41751
Newfoundland Rod-Cone Dystrophy
Bone spicule pigmentation of the retina, Retinal dystrophy OMIM:607476
Ceroid Lipofuscinosis, Neuronal, 6A
Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Retinitis Pigmentosa 1
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:180100
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Decreased HDL cholesterol concentration, Increased LDL cholesterol conc... OMIM:615703
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Retinitis Pigmentosa 46
Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:612572
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Achromatopsia
Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo... ORPHA:49382
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis, Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... OMIM:604116
Retinal Cone Dystrophy 1
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:180020
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy OMIM:600790
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertension, Hypertriglyceridemia, Sudden cardiac death... OMIM:610947
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy OMIM:619090
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair ORPHA:505
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... OMIM:612095
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Hepatic Lipase Deficiency
Angina pectoris, Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Leber Congenital Amaurosis 8
Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti... OMIM:613835
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... ORPHA:215
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:616108
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ... OMIM:204100
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s... ORPHA:506353
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Facial palsy, Abnormality of retinal pigmentation ORPHA:2743
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
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Congenital Glaucoma
Retinal detachment ORPHA:98976
Retinitis Pigmentosa 77
Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen... OMIM:617304
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... ORPHA:2722
Retinitis Pigmentosa 49
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613756
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, P... OMIM:616394
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:613617
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Retinitis Pigmentosa 83
Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous floaters, Cystoid macular edema... OMIM:618173
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Retinitis Pigmentosa 10
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:180105
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment OMIM:613310
Leber Congenital Amaurosis 9
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... OMIM:608553
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Cataract 50 With Or Without Glaucoma
Persistent pupillary membrane, Retinal detachment OMIM:620253
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Cone-Rod Dystrophy 11
Macular degeneration, Cone/cone-rod dystrophy, Macular atrophy, Bull's eye maculopathy OMIM:610381
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Retinitis Pigmentosa 2
Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degeneration, Rod-c... OMIM:312600
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Stickler Syndrome, Type I, Nonsyndromic Ocular
Rhegmatogenous retinal detachment, Optically empty vitreous OMIM:609508
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Dilated cardiomyopathy, Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal ... OMIM:145350
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Coats Disease
Abnormal retinal vascular morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnorma... ORPHA:190
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... OMIM:602772
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp OMIM:617294
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Eem Syndrome
Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy ORPHA:1897
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Cone-Rod Dystrophy 8
Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Abnormali... OMIM:605549
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig... OMIM:613581
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Retinal nonattachment, Iris hypopigmentation, Choroideremia ORPHA:99000
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Cerebral atrophy ORPHA:397951
Ceroid Lipofuscinosis, Neuronal, 2
Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent lipopigme... OMIM:204500
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p... OMIM:618195
Retinitis Pigmentosa 26
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:608380
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris, Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Neovascular Glaucoma
Abnormal optic nerve morphology, Retinal vein occlusion, Rubeosis iridis, Uveal ectropion, Retino... ORPHA:94058
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:300029
Parc Syndrome
Absent eyelashes, Alopecia, Absent eyebrow OMIM:600331
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration OMIM:164500
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Retinitis Pigmentosa 44
Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613769
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re... OMIM:616188
Schizophrenia 15
Hyperactivity OMIM:613950
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Arrhythmia, Elevated circulating c... OMIM:616516
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Cone-Rod Dystrophy 10
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610283
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc drusen OMIM:204000
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Retinitis Pigmentosa 14
Optic disc pallor, Rod-cone dystrophy, Retinal arteriolar constriction, Bone spicule pigmentation... OMIM:600132
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... ORPHA:209943
Retinopathy Of Prematurity
Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachment, Vitreo... ORPHA:90050
Usher Syndrome, Type Iiib
Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy OMIM:614504
Jalili Syndrome
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph... OMIM:217080
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Retinitis Pigmentosa 51
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613464
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Abnormality of retinal pigmentation ORPHA:1259
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis skin lesions, Tel... ORPHA:247691
Narp Syndrome
Cerebral cortical atrophy, Retinal pigment epithelial mottling, Retinal arteriolar tortuosity, Ro... ORPHA:644
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia, Retinal degeneration OMIM:617173
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
8p23.1 deletion syndrome
Abnormal heart morphology, Atrioventricular canal defect, Cryptorchidism, Atrial septal defect, H... DECIPHER:39
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Hypertriglyceridemia ORPHA:436182
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
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
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Retinitis Pigmentosa 75
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:617023
Retinitis Pigmentosa 38
Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy OMIM:613862
Retinitis Pigmentosa 60
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:613983
Retinitis Pigmentosa 20
Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613794
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Retinitis Pigmentosa 72
Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret... OMIM:616469
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Ethanolaminosis
Cardiomegaly OMIM:227150
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Macular degeneration, Retinop... ORPHA:816
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy ORPHA:1466
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1390
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Cone-Rod Dystrophy 15
Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613660
L-Ferritin Deficiency
Alopecia OMIM:615604
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lattice retinal degeneration, Retinal detachment, Vitreous floaters, Peripheral vitreoretinal deg... OMIM:614292
Leber Congenital Amaurosis 4
Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy, Cone/cone-rod dystrophy OMIM:604393
Analbuminemia
Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans... OMIM:616000
Waardenburg-Shah Syndrome
Abnormal macular morphology, Premature graying of hair, White forelock, Abnormality of retinal pi... ORPHA:897
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Retinitis Punctata Albescens
Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ... ORPHA:52427
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic... ORPHA:79434
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Retinopathy ORPHA:90654
Cone-Rod Dystrophy 2
Chorioretinal atrophy, Macular hyperpigmentation, Cone/cone-rod dystrophy, Bone spicule pigmentat... OMIM:120970
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:264470
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Palpitations, Hypercholesterolemia ORPHA:488650
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Abnormal optic nerve morphology, Attenuation of retinal blood vessels, Abnormal fundus morphology... ORPHA:436274
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Hypertriglyceridemia ORPHA:71529
Retinal Dystrophy With Or Without Macular Staphyloma
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Retinal pigment ep... OMIM:617547
Candidiasis, Familial, 1
Alopecia OMIM:114580
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair ORPHA:1008
Ramon Syndrome
Telangiectasia of the skin, Abnormality of retinal pigmentation ORPHA:3019
Choroidal Atrophy-Alopecia Syndrome
Patchy atrophy of the retinal pigment epithelium, Abnormality of retinal pigmentation ORPHA:1433
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:618620
Exudative Vitreoretinopathy 4
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Retinal pigment epithelial mottling OMIM:219900
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair OMIM:158000
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Night Blindness, Congenital Stationary, Type 1B
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:257270
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve... ORPHA:364055
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Pigmentary retinopathy, Congestive heart failure, Wolff-Parkinson-Wh... OMIM:618234
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, Nail pits, Ridged nail, Nail dystrophy OMIM:601705
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Juvenile Paget Disease
Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation ORPHA:2801
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy OMIM:614284
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Cone-Rod Dystrophy, X-Linked, 3
Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Retinal detachment, Optic disc pall... OMIM:300476
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... ORPHA:284454
Pili Torti
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... ORPHA:2889
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Hyperactivity OMIM:613402
Hypotrichosis 5
Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs... OMIM:612841
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial mottling, T... OMIM:619649
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Kerion Celsi
Alopecia ORPHA:499
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Retinal degeneration, Decreased LDL... OMIM:615558
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Chorioretinal atrophy, Abnormality of retinal pigmentation, Retinopathy, Abnormal chorioretinal m... ORPHA:5
Chudley-Mccullough Syndrome
Cerebellar hypoplasia, Cerebellar dysplasia, Hydrocephalus OMIM:604213
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Coloboma Of Macula
Macular coloboma OMIM:120300
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Cone-Rod Dystrophy 6
Attenuation of retinal blood vessels, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicul... OMIM:601777
Nephronophthisis 14
Retinal degeneration OMIM:614844
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Cerebral atrophy, Pigmentary retinopathy, Cerebellar atrophy, Rod-cone dystrophy OMIM:268020
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Brain atrophy OMIM:619059
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Rod-cone dystrophy, Retinal degeneration OMIM:615981
Cataract 21, Multiple Types
Macular hypoplasia, Iris coloboma, Retinal detachment OMIM:610202
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Ectodermal Dysplasia 7, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... OMIM:614929
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigment... OMIM:609033
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypertension... OMIM:615812
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:607616
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation ORPHA:3085
Congenital Muscular Dystrophy With Intellectual Disability
Cerebral cortical atrophy, Pigmentary retinopathy, Facial palsy ORPHA:370968
Lipodystrophy, Familial Partial, Type 4
Hypertension, Hypertriglyceridemia OMIM:613877
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:615986
Glycine Encephalopathy 1
Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess... OMIM:616959
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp, Rod-cone dystrophy OMIM:136300
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks ORPHA:100996
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy ORPHA:2518
Clouston Syndrome
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ... OMIM:129500
Hartnup Disorder
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Retinal detachment, Ectopia pupillae OMIM:225200
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Pigmentary retinopathy, Cardiomyopathy ORPHA:329336
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Hypertriglyceridemia ORPHA:280356
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m... ORPHA:248
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... OMIM:613573
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:300578
Neurocutaneous Melanocytosis
Chorioretinal coloboma, Melanocytic nevus, Generalized hyperpigmentation, Abnormality of retinal ... ORPHA:2481
Mucopolysaccharidosis, Type Iiib
Progressive neurologic deterioration, Splenomegaly, Cardiomegaly, Aggressive behavior, Hyperactiv... OMIM:252920
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia OMIM:620211
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Monilethrix
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... ORPHA:573
Zika Virus Disease
Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic... ORPHA:448237
Retinitis Pigmentosa
Optic atrophy, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Retinal... ORPHA:791
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber OMIM:616722
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:216866
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Arrhythmia, Abnormality of retinal pigmentation ORPHA:96
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Fingernail dysplasia, Sparse hair ORPHA:2251
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Alopecia, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Hypoplastic to... ORPHA:2325
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cerebral cortical atrophy, Pigmentary retinopathy, Facial palsy OMIM:613156
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Macular coloboma, Retinal coloboma OMIM:107550
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Macro... ORPHA:3077
Lipodystrophy, Familial Partial, Type 1
Hypertension, Hypertriglyceridemia OMIM:608600
Retinitis Pigmentosa 23
Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Abs... OMIM:300424
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dystrophy, Abs... ORPHA:2890
Lipodystrophy, Familial Partial, Type 5
Hypertension, Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Patchy alopecia, Scarring alopecia of scalp ORPHA:346
Leigh Syndrome, Nuclear
Optic atrophy, Pigmentary retinopathy OMIM:256000
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
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Retinal degeneration, Optic disc pa... ORPHA:79264
Arthrogryposis, Distal, Type 5
Retinal fold, Abnormality of retinal pigmentation OMIM:108145
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d... OMIM:616468
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia ORPHA:324416
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Vitritis, Vitreous floaters, Abnormal chorioretinal morphology OMIM:605808
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Sparse scalp hair ORPHA:1882
Moynahan Syndrome
Alopecia, Sparse hair ORPHA:2574
Pseudopelade Of Brocq
Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S... ORPHA:129
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Morm Syndrome
Micropenis, Aggressive behavior, Hyperactivity ORPHA:75858
Porphyria Cutanea Tarda
Alopecia, Onycholysis, Facial hypertrichosis OMIM:176100
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity, Patent foramen ovale OMIM:617182
Vici Syndrome
Optic atrophy, Cerebral cortical atrophy, Hypopigmentation of the skin, Abnormal macular morpholo... ORPHA:1493
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology, Hypopig... ORPHA:2715
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Leukocoria, Retinal detachment, Hypertension OMIM:219250
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Congenital Rubella Syndrome
Abnormality of retinal pigmentation ORPHA:290
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Retinal detachment, Macular atrophy, Iris coloboma, Retinal dystrophy OMIM:212550
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair OMIM:104100
Bardet-Biedl Syndrome 17
Retinal degeneration, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Rod-cone ... OMIM:615994
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Retinitis Pigmentosa 97
Macular degeneration, Rod-cone dystrophy, Iris atrophy OMIM:620422
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ... OMIM:613843
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Tangier Disease
Hypertriglyceridemia, Elevated circulating apolipoprotein A-II concentration, Decreased circulati... OMIM:205400
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Abnormal sensory nerve conduction velocity, Axonal degeneration, Bone spi... ORPHA:88628
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... OMIM:262000
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H... ORPHA:90065
Cortisone Reductase Deficiency 1
Alopecia, Hirsutism OMIM:604931
Lennox-Gastaut Syndrome
Aggressive behavior, Hyperactivity, Mental deterioration, Irritability ORPHA:2382
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Landau-Kleffner Syndrome
Depression, Memory impairment, Short attention span, Emotional lability, Aggressive behavior, Att... ORPHA:98818
Uveal Melanoma
Mydriasis, Iris melanoma, Abnormal fundus morphology, Ciliary body melanoma, Vitreous hemorrhage,... ORPHA:39044
Antiphospholipid Syndrome, Familial
Central retinal artery occlusion, Vitritis, Retinal vasculitis, Retinal detachment, Iritis OMIM:107320
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Pulmonary embolism, Abnormal circulating lipid concentration, Hypercholesterolem... ORPHA:567548
Alopecia Totalis
Alopecia totalis, Alopecia of scalp, Onycholysis, Trachyonychia, Nail pits, Fragile nails ORPHA:700
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Phenylketonuria
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... OMIM:261600
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Mottled pigmentation of photoexposed areas OMIM:560000
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Retinal detachment, Hypoplastic optic chiasm, Retinal coloboma OMIM:615113
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair ORPHA:2985
Immunodeficiency 109 With Lymphoproliferation