Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal spleen morphology Vldlrem1(IMPC)Mbp HOM Early adult 0.00
decreased locomotor activity Vldlrem1(IMPC)Mbp HOM Early adult 2.25×10-06
decreased thigmotaxis Vldlrem1(IMPC)Mbp HOM Early adult 4.30×10-09
abnormal behavior Vldlrem1(IMPC)Mbp HOM Early adult 4.30×10-09
decreased anxiety-related response Vldlrem1(IMPC)Mbp HOM Early adult 6.18×10-08
blind uterus Vldlrem1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Vldlrem1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Vldlrem1(IMPC)Mbp HOM Early adult 0.00
hyperactivity Vldlrem1(IMPC)Mbp HOM Early adult 2.04×10-11

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

57 Images

X-ray

XRay Images Whole Body Lateral Orientation

19 Images

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, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar hypoplasia, Cerebellar atrophy OMIM:224050
Dysequilibrium Syndrome
Gait disturbance, Ataxia 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
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Atherosclerosis Susceptibility
Hypertriglyceridemia, Myocardial infarction, Decreased HDL cholesterol concentration OMIM:108725
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:615990
Retinitis Pigmentosa 57
Optic disc pallor, Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy OMIM:613582
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613809
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension, Hypercholesterolemia OMIM:608320
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Persistent Placoid Maculopathy
Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... ORPHA:97341
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Choroideremia
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... OMIM:303100
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Retinitis Pigmentosa 47
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613758
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Retinal Venous Beading
Saccular conjunctival dilatations, Vitreous hemorrhage, Retinal neovascularization, Retinal infar... OMIM:180080
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... OMIM:613428
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:614180
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613801
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Retinitis Pigmentosa 87 With Choroidal Involvement
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:618697
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Retinitis Pigmentosa 76
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... OMIM:617123
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Retinopathy, Neurodegeneration, Pigmentary retinopathy, Optic atrophy, Cerebell... OMIM:610951
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:606068
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Corticospinal tract atrophy, Rod-cone dystrophy OMIM:551500
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... OMIM:608133
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Sudden cardiac death, Hypertriglyceridemia, Myocardial infarction, Hypercholester... OMIM:610947
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp OMIM:610753
Retinitis Pigmentosa 90
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... OMIM:619007
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy OMIM:180104
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen OMIM:136550
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:609923
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Hypotrichosis Simplex
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes ORPHA:55654
Retinitis Pigmentosa 6
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:312612
Alopecia Universalis Congenita
Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair OMIM:203655
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Hypotrichosis 5
Sparse eyelashes, Alopecia, Thin eyebrow, Absent pubic hair, Absent axillary hair OMIM:612841
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Hypotrichosis 4
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair OMIM:146550
Retinitis Pigmentosa 4
Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
Retinopathy Of Prematurity
Vitreous hemorrhage, Abnormal retinal vascular morphology, Abnormal macular morphology, Tractiona... ORPHA:90050
Alopecia Areata 1
Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Nail pits OMIM:104000
Retinitis Pigmentosa 29
Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:612165
Cone-Rod Dystrophy 22
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... OMIM:619531
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Cerebral atrophy, Retinal detachment, Retinal dystrophy, Opt... OMIM:251270
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy OMIM:304030
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... OMIM:618144
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar vermis atrophy, Retinal pigment epithelial mottling, Corpus callosum atrophy, Optic di... OMIM:619389
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Alopecia Universalis
Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia ORPHA:701
Hypotrichosis 11
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... OMIM:615059
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis, Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Retinitis Pigmentosa 86
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... OMIM:618613
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma ORPHA:35737
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration, Increased neuronal autofluorescent lipopigment OMIM:601780
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... OMIM:136120
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Myocardial infa... OMIM:615703
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Achromatopsia
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... ORPHA:49382
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:180100
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebral atrophy, Pigmentary retinopathy, Cerebellar atrophy OMIM:619090
Cone-Rod Dystrophy 3
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... OMIM:604116
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Hepatic Lipase Deficiency
Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair ORPHA:505
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Retinitis Pigmentosa 46
Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy OMIM:612572
Retinitis Pigmentosa 41
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... OMIM:612095
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Facial palsy, Abnormality of retinal pigmentation ORPHA:2743
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Congenital Glaucoma
Retinal detachment ORPHA:98976
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:180020
Congenital Stationary Night Blindness
Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re... ORPHA:215
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Retinitis Pigmentosa 12
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:600105
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Abnormal fingernai... ORPHA:2722
Retinitis Pigmentosa 71
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Attenuation of retinal blood vessel... OMIM:616394
Retinitis Pigmentosa 49
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:613756
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Arrhythmia, Increased L... OMIM:616516
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Retinitis Pigmentosa 58
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:613617
Laurence-Moon Syndrome
Pigmentary retinopathy OMIM:245800
Retinitis Pigmentosa 83
Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi... OMIM:618173
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detach... OMIM:616468
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Cone-Rod Dystrophy 11
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Cone/cone-rod dystrophy OMIM:610381
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... OMIM:145350
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Retinal detachment, Abnormal retinal... ORPHA:190
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy OMIM:613862
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Retinitis Pigmentosa 50
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... OMIM:613194
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Leber Congenital Amaurosis 9
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... OMIM:608553
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Retinitis Pigmentosa 10
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... OMIM:180105
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Alopecia universalis, Congenital alopecia totalis OMIM:104130
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Retinitis Pigmentosa 43
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pall... OMIM:613810
Retinitis Pigmentosa 2
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Chorioretinal degeneration, Bull's ey... OMIM:312600
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degeneration, Cone/... OMIM:605549
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia, Sparse body hair, Onychogryposis of toenails, Dystrophic toenail, Alopecia of scalp OMIM:617294
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Ceroid Lipofuscinosis, Neuronal, 2
Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Retinal degeneration, Increased... OMIM:204500
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613464
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Iris hypopigmentation, Choroideremia, Vitelliform-like macular lesions ORPHA:99000
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Retinal exudate, Tractional retinal detachment OMIM:613310
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Retinitis Pigmentosa 56
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... OMIM:613581
Retinitis Pigmentosa 25
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic disc pallo... OMIM:602772
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Cerebral atrophy ORPHA:397951
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Alopecia OMIM:212835
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration OMIM:164500
Parc Syndrome
Absent eyebrow, Absent eyelashes, Alopecia OMIM:600331
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... ORPHA:3361
Cone-Rod Dystrophy 10
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610283
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Iris coloboma, Macular atrophy, Chorioretinal coloboma OMIM:212550
Leber Congenital Amaurosis 1
Optic disc drusen, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy OMIM:204000
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Retinal degeneration, Bradycardia OMIM:617173
Retinitis Pigmentosa 26
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:608380
Ectodermal Dysplasia 4, Hair/Nail Type
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... OMIM:602032
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:300029
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Nail pits, Congenital alopecia totalis, Ridged nail ORPHA:169095
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-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Irvan Syndrome
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... ORPHA:209943
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Abnormality of retinal pigmentation ORPHA:1259
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Retinitis Pigmentosa 84
Macular coloboma, Rod-cone dystrophy, Macular atrophy OMIM:618220
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation ORPHA:1433
Neovascular Glaucoma
Abnormal posterior eye segment morphology, Retinal vascular proliferation, Retinal detachment, Ab... ORPHA:94058
Retinitis Pigmentosa 44
Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613769
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy OMIM:268050
Bestrophinopathy, Autosomal Recessive
Retinal flecks, Retinal pigment epithelial atrophy OMIM:611809
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Stickler Syndrome, Type I, Nonsyndromic Ocular
Optically empty vitreous, Rhegmatogenous retinal detachment OMIM:609508
Retinitis Pigmentosa 14
Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriolar constriction, Rod-... OMIM:600132
Leber Congenital Amaurosis 15
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor OMIM:613843
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Cataract 21, Multiple Types
Iris coloboma, Retinal detachment, Macular hypoplasia OMIM:610202
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Enhanced S-Cone Syndrome
Retinoschisis, Macular edema, Pigmentary retinopathy, Vitreoretinopathy OMIM:268100
Narp Syndrome
Cerebral cortical atrophy, Rod-cone dystrophy, Retinal pigment epithelial mottling, Optic disc pa... ORPHA:644
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormal retinal vascular morphology, Raynaud phenomenon, Hypertension, Macular edema, Retinal ne... ORPHA:247691
Retinitis Pigmentosa 20
Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613794
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Retinal detachment ORPHA:436182
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Retinal detachment ORPHA:171844
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:264470
Sjögren-Larsson Syndrome
Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera... ORPHA:816
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy ORPHA:1466
Cerebral Cavernous Malformations
Intracranial hemorrhage, Retinal vascular malformation OMIM:116860
Retinitis Pigmentosa 72
Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigment... OMIM:616469
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:144600
Ethanolaminosis
Cardiomegaly OMIM:227150
Retinal Dystrophy And Obesity
Retinal detachment, Peripapillary atrophy, Retinal dystrophy, Retinal pigment epithelial atrophy OMIM:616188
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Heterochromia iridis ORPHA:1390
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypo... ORPHA:79434
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White... ORPHA:897
Cone-Rod Dystrophy 15
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:613660
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly scalp hair, Woolly hair, Alopecia OMIM:601217
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Retinitis Pigmentosa 66
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:615233
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Leber Congenital Amaurosis 4
Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy OMIM:604393
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... OMIM:616000
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Absent foveal reflex, Iris coloboma, Retinal dystrophy OMIM:615147
Stickler Syndrome Type 2
Retinopathy, Retinal detachment, Abnormal vitreous humor morphology ORPHA:90654
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Rod-cone dystrophy, Absent retinal pigment epithelium, Attenuation of retinal blood vessels, Abno... ORPHA:436274
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degene... OMIM:618195
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy OMIM:614284
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration OMIM:614292
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Cone-Rod Dystrophy 2
Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial atrophy, Macular hyper... OMIM:120970
Retinitis Punctata Albescens
Absent foveal reflex, Cystoid macular edema, Abnormality of fundus pigmentation, Retinal pigment ... ORPHA:52427
L-Ferritin Deficiency
Alopecia OMIM:615604
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hypertension ORPHA:71529
Ramon Syndrome
Telangiectasia of the skin, Abnormality of retinal pigmentation ORPHA:3019
Ectopia Lentis Et Pupillae
Retinal detachment, Persistent pupillary membrane OMIM:225200
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hyperpigmented nevi, Blue irides, Heterochromia iridis, Hypo... ORPHA:79432
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Palpitations, Hypercholesterolemia ORPHA:488650
Candidiasis, Familial, 1
Alopecia OMIM:114580
Microspherophakia With Hernia
Retinal detachment OMIM:157150
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:601813
Angioma Serpiginosum
Retinal vascular malformation ORPHA:95429
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:791
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:610717
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Sparse or absent eye... ORPHA:444
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia universalis, Abnormal eyelash morphology, Sparse body hair ORPHA:1008
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Monilethrix
Nail dysplasia, Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Nail dystrophy OMIM:158000
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate OMIM:264420
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus ORPHA:2801
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... ORPHA:364055
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decreased HDL cholesterol conce... OMIM:618620
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
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
Nail pits, Ridged nail, Nail dystrophy, Alopecia OMIM:601705
Pili Torti
Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn... ORPHA:2889
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
8p23.1 deletion syndrome
Hyperactivity, Atrial septal defect, Atrioventricular canal defect, Cryptorchidism, Abnormal hear... DECIPHER:39
Acute Zonal Occult Outer Retinopathy
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... ORPHA:284454
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia,... OMIM:615558
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Cerebellar atrophy OMIM:613402
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Retinal dysplasia OMIM:613154
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Abnormality of macular pigmentation, Retinal detachment, Cone/cone-rod dyst... OMIM:300476
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Cone-Rod Dystrophy 6
Chorioretinal atrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atr... OMIM:601777
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Crandall Syndrome
Pili torti, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair ORPHA:202
Chudley-Mccullough Syndrome
Hydrocephalus, Cerebellar dysplasia, Cerebellar hypoplasia OMIM:604213
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Retinitis Pigmentosa 77
Retinal atrophy, Cystoid macular edema, Rod-cone dystrophy OMIM:617304
Coats Disease
Retinal telangiectasia, Leukocoria, Exudative retinal detachment OMIM:300216
Kerion Celsi
Alopecia ORPHA:499
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Chorioretinal atrophy, Abnormality of retinal pigmentation, Abnormal chorioretinal m... ORPHA:5
Nephronophthisis 14
Retinal degeneration OMIM:614844
Coloboma Of Macula
Macular coloboma OMIM:120300
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Nail dystrophy, Alopecia OMIM:616487
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Brain atrophy, Pigmentary retinopathy OMIM:619059
Glycine Encephalopathy
Hyperactivity, Impulsivity, Irritability, Aggressive behavior, Lethargy OMIM:605899
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Hanac Syndrome
Retinal vascular tortuosity ORPHA:73229
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Cerebral atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:268020
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Rod-cone dystrophy, Attenuation of retinal blood ves... OMIM:609033
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Aminoacylase 1 Deficiency
Hyperactivity, Cerebellar atrophy OMIM:609924
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cerebellar atrophy ORPHA:3085
Congenital Muscular Dystrophy With Intellectual Disability
Facial palsy, Cerebral cortical atrophy, Pigmentary retinopathy ORPHA:370968
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... OMIM:619868
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal degenerati... OMIM:615986
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Retinal degeneration, Rod-cone dystrophy OMIM:615981
Deafness-Craniofacial Syndrome
Alopecia OMIM:125230
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Temporal optic disc pallor, Anisocoria OMIM:619649
Leigh Syndrome With Leukodystrophy
Optic atrophy, Pigmentary retinopathy ORPHA:255241
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy ORPHA:2518
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Hypertension OMIM:613877
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks ORPHA:100996
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:607616
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland... OMIM:614929
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation ORPHA:578
Flynn-Aird Syndrome
Alopecia of scalp, Rod-cone dystrophy, Alopecia OMIM:136300
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Numerous congenital melanocytic nevi, Generalized hyperpigme... ORPHA:2481
Nephronophthisis 15
Retinal degeneration OMIM:614845
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hypertension ORPHA:280356
Clouston Syndrome
Nail dysplasia, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Absent pubic hair, Alop... OMIM:129500
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Cardiomyopathy, Pigmentary retinopathy ORPHA:329336
Ectodermal Dysplasia-Syndactyly Syndrome 1
Pili torti, Hypoplastic toenails, Sparse scalp hair, Patchy alopecia, Sparse eyelashes, Alopecia,... OMIM:613573
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Fine hair, Abnormal toenail morphology, Abnormal hair m... ORPHA:248
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Zika Virus Disease
Absent foveal reflex, Retinal pigment epithelial mottling, Chorioretinal atrophy, Iris coloboma, ... ORPHA:448237
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Cerebral cortical atrophy, Pigmentary retinopathy OMIM:613156
Focal Segmental Glomerulosclerosis 1
Hypertension, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Arrhythmia, Hypertrophic cardiomyopathy ORPHA:96
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Shuffling gait, Aggressi... ORPHA:3077
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior OMIM:604317
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Rod-cone dystrophy, Alopecia OMIM:617763
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Hypertension, Hypercholesterolemia OMIM:615812
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Retinal coloboma, Macular coloboma, Facial palsy OMIM:107550
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy OMIM:616722
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy OMIM:300578
Monilethrix
Abnormal eyebrow morphology, Sparse hair, Patchy alopecia, Brittle hair, Abnormal eyelash morphol... ORPHA:573
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:216866
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hypertension OMIM:608600
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Sparse hair, Alopecia, Onychogryposis of fingernail, Fingernail dysplasia, Ridged fingernail ORPHA:2251
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertrophic cardiomyopathy, Retinal degeneration OMIM:616896
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Hypoplastic toenails, Toenail dysplasia, Alopecia, Fingernail dysplasia, Abnor... ORPHA:2325
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
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia ORPHA:324416
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Hypertension, Increased C-peptide level OMIM:615238
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Congenital onycho... ORPHA:2890
Porphyria Cutanea Tarda
Onycholysis, Facial hypertrichosis, Alopecia OMIM:176100
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia OMIM:617885
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Morm Syndrome
Hyperactivity, Aggressive behavior, Micropenis ORPHA:75858
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Retinal degeneration, Pigmentary retinopathy, Optic disc pallor, Cerebellar atr... ORPHA:79264
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation OMIM:108145
Quinquaud Folliculitis Decalvans
Scarring alopecia of scalp, Abnormal hair morphology, Patchy alopecia ORPHA:346
Vici Syndrome
Abnormality of retinal pigmentation, Cerebral cortical atrophy, Abnormal macular morphology, Hypo... ORPHA:1493
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... OMIM:616828
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Bradykinesia, Depression,... ORPHA:248111
Leigh Syndrome
Optic atrophy, Pigmentary retinopathy OMIM:256000
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Bardet-Biedl Syndrome 17
Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule ... OMIM:615994
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior OMIM:619970
Congenital Rubella Syndrome
Abnormality of retinal pigmentation ORPHA:290
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Sparse eyebrow, Alopecia, Dystrophic toenail, Fine hair, Dystrophic fingernails ORPHA:1882
Hyperprolinemia, Type I
Ataxia, Hyperactivity, Aggressive behavior OMIM:239500
Birdshot Chorioretinopathy
Vitritis, Abnormal chorioretinal morphology, Retinal pigment epithelial atrophy OMIM:605808
Moynahan Syndrome
Sparse hair, Alopecia ORPHA:2574
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Hypopigmented skin patches, Abnormal retinal ... ORPHA:2715
Cutis Marmorata Telangiectatica Congenita
Hypertension, Telangiectasia, Retinal detachment, Leukocoria OMIM:219250
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Axonal degeneration, Pigmentary retinopathy, Bone spicule pigmentation of the... ORPHA:88628
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, Abnormal... ORPHA:129
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior OMIM:309548
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Phenylketonuria
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... OMIM:261600
Antiphospholipid Syndrome, Familial
Iritis, Retinal detachment, Retinal vasculitis, Central retinal artery occlusion, Vitritis OMIM:107320
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia OMIM:614564
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior ORPHA:100973
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Splenomegaly, Aggressive behavior, Asymmetric septal hypertrophy, Ca... OMIM:252920
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Sparse hair, Brittle hair, Alopecia, Sparse eyebrow OMIM:104100
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Bjornstad Syndrome
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... OMIM:262000
Chromosome 3Q29 Deletion Syndrome
Anxiety, Hyperactivity, Aggressive behavior, Gait ataxia OMIM:609425
Lennox-Gastaut Syndrome
Personality disorder, Hyperactivity, Aggressive behavior, Falls ORPHA:2382
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Hyperactivity, Bradykinesia, Inappropriate behavior, Self-biting, Nail-b... OMIM:619827
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Pulmonary embolism, Hypertriglyceridemia, Hypoalbuminem... ORPHA:567548
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Cerebellar atrophy OMIM:618090
Uveal Melanoma
Vitreous hemorrhage, Iris melanoma, Ciliary body melanoma, Retinal detachment, Mydriasis, Abnorma... ORPHA:39044
Acquired Aneurysmal Subarachnoid Hemorrhage
ST segment depression, Cerebral hemorrhage, Cerebral ischemia, Syncope, Prolonged QTc interval, M... ORPHA:90065
Landau-Kleffner Syndrome
Impulsivity, Hyperactivity, Depression, Anxiety, Gait ataxia, Attention deficit hyperactivity dis... ORPHA:98818
Cortisone Reductase Deficiency 1
Hirsutism, Alopecia OMIM:604931
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Mottled pigmentation of photoexposed areas, Pigmentary retinopathy OMIM:560000
Microphthalmia, Isolated 8