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Gene: Rab28 MGI:1917285

Gene Summary

Name:

RAB28, member RAS oncogene family

Synonyms:

2700023P08Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal bone structure	Rab28^em1(IMPC)J	HOM	Early adult	4.49×10^-17
increased circulating triglyceride level	Rab28^em1(IMPC)J	HOM	Early adult	1.30×10^-06
decreased heart weight	Rab28^em1(IMPC)J	HOM	Early adult	1.78×10^-05
decreased circulating total protein level	Rab28^em1(IMPC)J	HOM	Early adult	6.79×10^-05
increased total body fat amount	Rab28^em1(IMPC)J	HOM	Early adult	1.98×10^-09
decreased bone mineral content	Rab28^em1(IMPC)J	HOM	Early adult	1.21×10^-16
decreased bone mineral density	Rab28^em1(IMPC)J	HOM	Early adult	1.67×10^-06
decreased lean body mass	Rab28^em1(IMPC)J	HOM	Early adult	2.04×10^-07

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lacZ Expression

Expression data not available

Associated Images

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

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Rab28 mutations

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

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

Human diseases associated with Rab28 (2 diseases)
Human diseases predicted to be associated with Rab28 (671 diseases)

The table below shows human diseases associated to Rab28 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cone Rod Dystrophy		Abnormality of retinal pigmentation	ORPHA:1872
Cone-Rod Dystrophy 18		Cone/cone-rod dystrophy, Foveal atrophy, Foveal hyperpigmentation	OMIM:615374

The table below shows human diseases predicted to be associated to Rab28 by phenotypic similarity.

Disease	Matching phenotypes	Source
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Macular Degeneration, Age-Related, 13	Drusen, Macular degeneration, Choroidal neovascularization, Macular scar	OMIM:615439
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy	OMIM:126600
Cone-Rod Dystrophy 7	Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy	OMIM:603649
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Macular Dystrophy, Patterned, 3	Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy	OMIM:617111
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Macular Dystrophy, Retinal, 1, North Carolina Type	Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy	OMIM:136550
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Stargardt Disease 3	Macular dystrophy, Macular atrophy, Macular flecks	OMIM:600110
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Macular Dystrophy, Vitelliform, 2	Macular dystrophy, Cystoid macular degeneration, Subretinal fluid	OMIM:153700
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Ceroid Lipofuscinosis, Neuronal, 6A	Increased neuronal autofluorescent lipopigment, Retinal degeneration	OMIM:601780
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Retinitis Pigmentosa 31	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:609923
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal pigment epithelial atrophy	OMIM:608850
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Retinitis Pigmentosa Inversa With Deafness	Rod-cone dystrophy, Retinitis pigmentosa inversa	OMIM:268010
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration	OMIM:180020
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegeneration, R...	OMIM:610951
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration	OMIM:619764
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy	OMIM:610381
Ceroid Lipofuscinosis, Neuronal, 2	Cerebral atrophy, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autoflu...	OMIM:204500
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Best Vitelliform Macular Dystrophy	Choroideremia, Cystoid macular degeneration	ORPHA:1243
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613801
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph...	OMIM:143200
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Optic atrophy, Retinal degeneration	OMIM:614322
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy, Corticospinal tract atrophy	OMIM:551500
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Bestrophinopathy, Autosomal Recessive	Retinal pigment epithelial atrophy, Retinal flecks	OMIM:611809
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Optic disc pallor, Corpus callosum atrophy, Retinal pigment epithelial mottli...	OMIM:619389
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia, Osteoporosis, Gout	OMIM:610947
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia	OMIM:615041
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Chorioretinal degeneration	OMIM:311000
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Macular atrophy, Retinal degeneration	OMIM:267760
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Macular degeneration	OMIM:608194
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration	ORPHA:85334
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Macular Dystrophy, Vitelliform, 3	Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ...	OMIM:608161
Cone Dystrophy 3	Cone/cone-rod dystrophy, Macular atrophy	OMIM:602093
Ceroid Lipofuscinosis, Neuronal, 3	Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent lipopigme...	OMIM:204200
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Cerebellar atrophy, Pigmentary retinopathy, Cerebral atrophy	OMIM:619090
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Enterokinase Deficiency	Failure to thrive, Hypoproteinemia	OMIM:226200
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R...	OMIM:616108
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Central heterochromia, Retinal degeneration	OMIM:275400
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Retinal degeneration	OMIM:617173
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:232700
Macular Degeneration, Age-Related, 3	Drusen, Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization	OMIM:608895
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Ceroid Lipofuscinosis, Neuronal, 1	Increased neuronal autofluorescent lipopigment, Optic atrophy, Cerebral atrophy, Macular degenera...	OMIM:256730
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r...	OMIM:204100
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy	ORPHA:2743
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa...	OMIM:613835
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Achromatopsia 7	Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy	OMIM:616517
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Cone-Rod Dystrophy 15	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:613660
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg...	OMIM:614292
Nephronophthisis 15	Retinal degeneration	OMIM:614845
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Congenital Analbuminemia	Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy	OMIM:616502
Retinitis Pigmentosa 46	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:612572
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration	OMIM:264420
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Morm Syndrome	Retinal atrophy, Retinal dystrophy	ORPHA:75858
Bardet-Biedl Syndrome 16	Rod-cone dystrophy, Retinal degeneration	OMIM:615993
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Bardet-Biedl Syndrome 4	Rod-cone dystrophy, Retinal degeneration	OMIM:615982
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Retinitis Pigmentosa 2	Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c...	OMIM:312600
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Cerebral cortical atrophy, Increased neuronal autofluorescent lipopigment, Re...	OMIM:256731
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Retinal degeneration	ORPHA:3363
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Eem Syndrome	Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy	ORPHA:1897
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration	OMIM:602271
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy...	OMIM:618173
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Increased subc...	OMIM:608600
Bardet-Biedl Syndrome 2	Rod-cone dystrophy, Retinal degeneration	OMIM:615981
Refractory Celiac Disease	Hypomagnesemia, Osteoporosis, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypop...	ORPHA:398063
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity, Increased adipose tissue	ORPHA:71529
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Cerebral atrophy	ORPHA:397951
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Lipase Deficiency, Combined	Hypertriglyceridemia, Lipodystrophy	OMIM:246650
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels	OMIM:604393
Bardet-Biedl Syndrome 21	Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu...	OMIM:617406
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age	OMIM:256300
Leber Congenital Amaurosis 1	Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels	OMIM:204000
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Sjögren-Larsson Syndrome	Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta...	ORPHA:816
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol...	OMIM:615703
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Retinitis Pigmentosa 51	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:613464
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Cofs Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy	ORPHA:1466
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Narp Syndrome	Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Corticospi...	ORPHA:644
Oguchi Disease	Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon	ORPHA:75382
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Absent foveal reflex, Retinal dystrophy, Peripheral retinal atrophy	OMIM:615147
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	OMIM:264470
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypoproteinemia, Ventricular septal defect, Elevated circulating creatine kinase concentration, S...	ORPHA:26793
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis	ORPHA:1390
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Generalized lipodystrop...	OMIM:612526
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, Aganglionic megac...	ORPHA:897
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	OMIM:610717
Mucolipidosis Iv	Cerebellar atrophy, Optic atrophy, Retinal degeneration	OMIM:252650
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Abetalipoproteinemia	Retinopathy, Retinal degeneration	OMIM:200100
Immunodeficiency 43	Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia	OMIM:241600
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Retinal degeneration	OMIM:616896
Hsd10 Mitochondrial Disease	Optic atrophy, Cerebral cortical atrophy, Retinal degeneration	OMIM:300438
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Canavan Disease	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia	OMIM:152800
Poretti-Boltshauser Syndrome	Retinal thinning, Retinal atrophy, Retinal dystrophy	OMIM:615960
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Retinitis Pigmentosa	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:791
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia	ORPHA:1116
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Ramon Syndrome	Abnormality of retinal pigmentation	ORPHA:3019
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters	OMIM:605808
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac...	OMIM:270200
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:617023
Ceroid Lipofuscinosis, Neuronal, 10	Cerebellar atrophy, Retinal atrophy, Increased neuronal autofluorescent lipopigment, Rod-cone dys...	OMIM:610127
Developmental And Epileptic Encephalopathy 28	Cerebral atrophy, Optic atrophy, Retinal degeneration	OMIM:616211
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615986
Spastic Paraplegia 11, Autosomal Recessive	Macular degeneration, Cerebral cortical atrophy, Retinal degeneration, Degeneration of the latera...	OMIM:604360
Retinitis Pigmentosa 23	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti...	OMIM:300424
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ...	OMIM:617547
Lipodystrophy, Familial Partial, Type 4	Lipoatrophy, Hypertriglyceridemia, Lipodystrophy	OMIM:613877
Hypertriglyceridemia, Transient Infantile	Failure to thrive, Hypertriglyceridemia	OMIM:614480
Hypotrichosis With Juvenile Macular Degeneration	Macular degeneration, Freckling, Abnormality of macular pigmentation, Melanocytic nevus	ORPHA:1573
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus	ORPHA:2801
Retinal Cone Dystrophy 3B	Cone/cone-rod dystrophy, Macular atrophy	OMIM:610356
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Bone cyst, Hypercholesterolemia, Hypert...	ORPHA:528
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Weight loss	ORPHA:2494
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Scheie Syndrome	Retinal degeneration	OMIM:607016
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1173
Congenital Disorder Of Glycosylation, Type Ij	Flexion contracture, Hypoproteinemia	OMIM:608093
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Optic disc pallor, Macular coloboma, Macular atrophy, Abnormal auditory evoke...	OMIM:619260
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli...	OMIM:616468
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Late-Onset Retinal Degeneration	Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr...	ORPHA:67042
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Optic disc pallor, Macular atrophy, Optic atrophy, Cerebral atrophy, Retinopathy	OMIM:616171
Primary Intestinal Lymphangiectasia	Pericardial effusion, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia	ORPHA:90362
Congenital Toxoplasmosis	Abnormality of retinal pigmentation	ORPHA:858
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina...	ORPHA:5
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Osteoporosis, ...	OMIM:615381
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Macular degeneration, Choroidal neovascularization, Cerebral cortical atrophy	ORPHA:404451
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy	ORPHA:370968
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:44
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Cone-Rod Dystrophy And Hearing Loss 1	Macular degeneration, Retinal atrophy	OMIM:617236
Johanson-Blizzard Syndrome	Failure to thrive, Abnormal cardiac septum morphology, Hypoproteinemia, Dextrocardia	ORPHA:2315
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia	OMIM:615924
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy	OMIM:219900
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy, Brain atrophy	OMIM:619059
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation	ORPHA:3085
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Optic atrophy, Retinal degeneration	OMIM:249270
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop...	OMIM:609033
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:245900
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:607616
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina	ORPHA:100996
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Elevated circu...	ORPHA:435660
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Cerebellar atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Cerebral atrophy	OMIM:268020
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy	OMIM:616722
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Optic disc pallor, Cerebral atrophy, Pigmentary retinopathy, Retinal degenera...	ORPHA:79264
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr...	OMIM:615994
Retinitis Pigmentosa 74	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Alg6-Cdg	Rod-cone dystrophy, Retinal degeneration	ORPHA:79320
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
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
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:252011
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Inguinal hernia, Ventricular septal defect, Hypocalcemia	OMIM:235255
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy	ORPHA:2518
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia	ORPHA:436182
Myopia 28, Autosomal Recessive	Retinal detachment	OMIM:619781
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Overweight, Flexion contracture, Obesity, Trunca...	OMIM:616222
Dengue Fever	Hypoproteinemia	ORPHA:99828
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Lipodystrophy, Increased C-peptide level	OMIM:615238
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Cardiomyopathy, Failu...	OMIM:615895
Hypobetalipoproteinemia, Familial, 1	Rod-cone dystrophy, Retinal degeneration	OMIM:615558
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Joint st...	ORPHA:98855
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy	ORPHA:578
Aceruloplasminemia	Retinal degeneration	OMIM:604290
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Retinal atrophy, Retinal dystrophy	ORPHA:370022
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia, Obesity	OMIM:617885
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hypoalbuminemia	OMIM:226300
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling	OMIM:619649
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Joint st...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Joint st...	ORPHA:98853
Cln3 Disease	Cerebellar atrophy, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Generalized ce...	ORPHA:228346
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:603552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy	OMIM:613156
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Loss of glutea...	ORPHA:435651
Bietti Crystalline Corneoretinal Dystrophy	Chorioretinal atrophy, Retinal degeneration	OMIM:210370
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Spastic Paraplegia 15, Autosomal Recessive	Macular degeneration, Retinal degeneration	OMIM:270700
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Inguinal hernia, Ventricular septal defect, Hypocalcemia	ORPHA:1655
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Retinal fold	OMIM:108145
Hsd10 Disease, Infantile Type	Diffuse cerebral atrophy, Optic atrophy, Cerebral atrophy, Frontotemporal cerebral atrophy, Neuro...	ORPHA:391428
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Joint st...	ORPHA:98863
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Reduced intraabdominal adipose tissue,...	ORPHA:363400
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:216866
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Chromosome Xp11.3 Deletion Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels	OMIM:300578
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ...	OMIM:618620
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hyperlipidemia, Osteoporosis, Hypertrophic cardiomyopathy, Failure to thrive	ORPHA:369
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Senior-Loken Syndrome 9	Macular degeneration, Rod-cone dystrophy, Retinal dystrophy	OMIM:616629
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy	OMIM:256000
Vici Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Cerebral cortic...	ORPHA:1493
Refsum Disease, Classic	Rod-cone dystrophy, Retinal degeneration	OMIM:266500
Congenital Rubella Syndrome	Abnormality of retinal pigmentation	ORPHA:290
Non-Specific Early-Onset Epileptic Encephalopathy	Cerebral atrophy, Optic atrophy, Brain atrophy, Retinal degeneration	ORPHA:442835
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:300635
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot...	OMIM:616959
Omenn Syndrome	Failure to thrive, Hypoproteinemia	OMIM:603554
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:151660
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Unicameral bone cyst, Generalized lipodystrophy, Cardiomyopathy, Panniculit...	ORPHA:79086
Akt2-Related Familial Partial Lipodystrophy	Increased intraabdominal fat, Hypertriglyceridemia, Lipodystrophy	ORPHA:79085
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy	OMIM:268315
Severe Oculo-Renal-Cerebellar Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig...	ORPHA:2715
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	ORPHA:280365
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:613101
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Axonal degeneration, Pigmentary retinopathy, Abnormal se...	ORPHA:88628
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, C...	ORPHA:2348
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy	OMIM:608629
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Xp21 Deletion Syndrome	Joint laxity, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Osteoporo...	ORPHA:261476
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Pericardial effusion, Increased circulating ferritin concentration, Endocar...	OMIM:619313
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia, Joint hypermobility	OMIM:619013
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma	OMIM:212550
Werner Syndrome	Hypertriglyceridemia, Osteoporosis, Elevated hemoglobin A1c, Reduced bone mineral density	OMIM:277700
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Chédiak-Higashi Syndrome	Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Increased circulating ferritin concentr...	ORPHA:167
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cerebellar atrophy, Macular degeneration	OMIM:619780
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Increased body weight, Abnormal heart morphology	OMIM:182290
Multiple Myeloma	Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Hyperprote...	ORPHA:29073
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentrati...	OMIM:613327
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis	OMIM:618398
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Retinal degeneration	ORPHA:542306
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia	OMIM:620282
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Mottled pigmentation of photoexposed areas	OMIM:560000
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Retinal degeneration	OMIM:615630
Joubert Syndrome 6	Retinal degeneration, Chorioretinal coloboma	OMIM:610688
Mulibrey Nanism	Pigmentary retinopathy	OMIM:253250
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Hyperuricemia, H...	ORPHA:79083
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Macular degeneration	ORPHA:284289
Pyruvate Dehydrogenase E2 Deficiency	Neurodegeneration, Retinal degeneration	ORPHA:79244
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Refsum Disease	Abnormality of retinal pigmentation, Retinopathy	ORPHA:773
Fanconi-Bickel Syndrome	Osteopenia, Hypertriglyceridemia, Rickets, Hypophosphatemia, Failure to thrive	ORPHA:2088
Liver Disease, Severe Congenital	Joint laxity, Hypoproteinemia, Hyponatremia, Inguinal hernia, Ventricular septal defect, Left atr...	OMIM:619991
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:585
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Wolfram Syndrome 1	Pigmentary retinopathy, Optic atrophy, Cerebral atrophy	OMIM:222300
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Patchy atrophy of the retinal pigment epithelium, Rod-cone dystrophy	ORPHA:436245
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling	OMIM:614105
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Mucolipidosis Iii Alpha/Beta	Retinopathy, Retinal degeneration	OMIM:252600
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, F...	OMIM:610651
Lipodystrophy, Familial Partial, Type 6	Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abdominal obes...	OMIM:615980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Retinal degeneration	OMIM:615249
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr...	OMIM:207750
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Osteoporosis, Increased...	ORPHA:264580
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ...	ORPHA:158057
Micro Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma, Cerebral cortical atrophy	ORPHA:2510
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Lipodystrophy, Flexion contracture, Arthritis, Panniculitis, Failure to thrive	OMIM:617591
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Obesity, Gout, Hyperproteinemia, Increased circulating renin le...	ORPHA:90041
Macrophthalmia, Colobomatous, With Microcornea	Optic disc coloboma, Macular atrophy, Chorioretinal coloboma	OMIM:602499
Citrullinemia, Type Ii, Adult-Onset	Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia	OMIM:603471
Paget Disease Of Bone 5, Juvenile-Onset	Macular scar, Retinopathy, Angioid streaks of the fundus, Retinal degeneration	OMIM:239000
Glycogen Storage Disease Iii	Ventricular hypertrophy, Cardiomyopathy, Hyperlipidemia, Elevated circulating creatine kinase con...	OMIM:232400
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Cerebral atrophy, Corpus callosum atrophy, Retinal degeneration	ORPHA:168491
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy	ORPHA:79095
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Nephronophthisis 11	Retinal degeneration	OMIM:613550
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Optic atrophy, Pigmentary retinopathy	OMIM:617282
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hypertriglyceridemia, Lipodystr...	OMIM:269700
Cholestasis-Lymphedema Syndrome	Multiple lipomas, Hyperlipidemia, Reduced bone mineral density	ORPHA:1414
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin...	ORPHA:158061
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Cafe-au-lait spot, Rod-cone dystrophy, Cerebral cortical atrophy, Retinal degeneration	ORPHA:166035
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Dilated cardiomyopathy, Truncal ob...	OMIM:203800
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Osteoporosis, Increased...	ORPHA:79240
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Melanocytic nevus, Generalized ...	ORPHA:1969
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Pigmentary retinopathy, Optic atrophy, Retinal dysplasia	OMIM:613154
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Hyperalaninemia, Hypertriglyceridemia, Hyper...	ORPHA:470
Axial Spondylometaphyseal Dysplasia	Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration	ORPHA:168549
Cohen Syndrome	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal dystrophy, Bull's eye macul...	OMIM:216550
Multiple Sulfatase Deficiency	Cerebellar atrophy, Cerebral atrophy, Retinal degeneration	OMIM:272200
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy	OMIM:600462
Bardet-Biedl Syndrome	Pigmentary retinopathy	ORPHA:110
Aceruloplasminemia	Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:48818
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Gout, Increased LDL chole...	ORPHA:412
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hypertriglyceridemia, Lipodystr...	OMIM:608594
Pantothenate Kinase-Associated Neurodegeneration	Pallidal degeneration, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal fle...	ORPHA:157850
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615947
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Hypoautofluorescent retinal lesion, Cafe-au-lait spot, Rod-cone dystrophy, Retinal degeneration	OMIM:250410
Kearns-Sayre Syndrome	Pigmentary retinopathy	OMIM:530000
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Joint stiffness, Obesity, Hypercholesterolemia	ORPHA:819
Pseudoxanthoma Elasticum	Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse...	OMIM:264800
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia, Obesity	ORPHA:329249
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Ventral hernia, Inguinal hernia, Hypertriglyceridemia, Widened atrophic scar, Pericar...	ORPHA:536532
Chylomicron Retention Disease	Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia	ORPHA:71
Prolidase Deficiency	Abnormality of retinal pigmentation, White forelock	ORPHA:742
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Chorioretinal lacunae, Decreased amplitude of sensory action...	OMIM:618733
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Cerebellar atrophy, Parietal cortical atrophy, Retinal atrophy, Corpus callosum atrophy	ORPHA:412057
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipos...	OMIM:248370
H Syndrome	Hypertriglyceridemia, Lipodystrophy, Recurrent fractures, Osteolysis, Hernia, Camptodactyly	ORPHA:168569
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	OMIM:278000
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Peroxisome Biogenesis Disorder 2A (Zellweger)	Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia	OMIM:214110
Usher Syndrome	Abnormality of retinal pigmentation, Cerebral cortical atrophy	ORPHA:886
Mucopolysaccharidosis, Type Ii	Neurodegeneration, Papilledema, Abnormality of retinal pigmentation	OMIM:309900
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Obesity, Abnormal heart morpho...	ORPHA:369837
Cone-Rod Dystrophy 18	Cone/cone-rod dystrophy, Foveal atrophy, Foveal hyperpigmentation	OMIM:615374
Senior-Loken Syndrome 8	Rod-cone dystrophy, Retinal dystrophy, Macular atrophy	OMIM:616307
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi...	OMIM:608612
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Pigmentary retinopathy, Optic atrophy	ORPHA:436271
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity	ORPHA:209902
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hyperautofluor...	OMIM:209900
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Corpus callosum atrophy, Cerebral cortical atrophy, Retinal degeneration	OMIM:248500
Glycerol Kinase Deficiency	Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, Osteoporosis, Pathologic frac...	OMIM:307030
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia	ORPHA:158048
Maternal Uniparental Disomy Of Chromosome 2	Retinal degeneration	ORPHA:96179
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Obesity	ORPHA:66628
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy	ORPHA:502423
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Atrophy of the spinal cord, Frontal cortical atrophy, Cerebral cortical ...	ORPHA:2822
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy	OMIM:612582
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Obesity	ORPHA:179494
Pseudoxanthoma Elasticum, Forme Fruste	Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus	OMIM:177850
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy	OMIM:617675
Maternal Uniparental Disomy Of Chromosome 4	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:96180
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Mitral valve calcification, Hypertriglyceridemia, Elevated hemoglobin A1c, Joint stif...	OMIM:619127
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy	ORPHA:192
Werner Syndrome	Premature graying of hair, Abnormality of retinal pigmentation, White forelock	ORPHA:902
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Vitiligo	OMIM:240300
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:220110
Neutral Lipid Storage Disease With Ichthyosis	Cardiomyopathy, Hypertriglyceridemia, Obesity, Abnormal circulating creatine kinase concentration	ORPHA:98907
Cohen Syndrome	Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dystrophy, O...	ORPHA:193
Papillorenal Syndrome	Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio...	OMIM:120330
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal heart valve m...	ORPHA:77293
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia	ORPHA:540
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Lipoatrophy, Hyperchol...	ORPHA:363618
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypertriglyceridemia, Hyperlipidemia, Osteoporosis, Gout, Increased susceptibility to...	ORPHA:79259
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Macular degeneration, Cerebellar cortical atrophy, Abnormal autonomic nervous system physiology, ...	ORPHA:247234
Neurodegeneration With Brain Iron Accumulation 1	Hyperpigmentation of the skin, Optic atrophy, Pigmentary retinopathy, Neurodegeneration, Cerebral...	OMIM:234200
Glycogen Storage Disease Ixc	Hypertriglyceridemia	OMIM:613027
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagn...	OMIM:618183
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas...	ORPHA:2526
Classic Homocystinuria	Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:394
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent...	OMIM:238600
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno...	ORPHA:50
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Macular coloboma, Atrophy of the spinal cord, Optic atrophy, Cerebral atrophy, Pigmentary retinop...	ORPHA:79282
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa...	ORPHA:71505
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat...	ORPHA:790
Immunodeficiency 97 With Autoinflammation	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619802
Spinocerebellar Ataxia Type 7	Cone/cone-rod dystrophy, Cerebellar atrophy, Abnormal fundus morphology, Cerebral atrophy, Macula...	ORPHA:94147
Atypical Werner Syndrome	Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Lipoatrophy, Aortic...	ORPHA:79474
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, C...	ORPHA:466768
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Hypermelanotic macule, Optic atrophy, Pigmentary retinopathy...	ORPHA:90321
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemia, Lipodystrophy, ...	OMIM:256040
Kniest Dysplasia	Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino...	ORPHA:485
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia, Osteolysis, Generalized lipodystrophy, Osteolytic defects of the dist...	ORPHA:90154
Hurler Syndrome	Neurodegeneration, Retinal degeneration	OMIM:607014
Microtriplication 11Q24.1	Hyperlipidemia, Limitation of joint mobility, Obesity	ORPHA:289522
Juvenile Polyposis Syndrome	Multiple lipomas, Failure to thrive, Hypoproteinemia, Rectocele	ORPHA:2929
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy	OMIM:614230
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Hyperlipidemia, Increased circulating chylomicron concentration, Decreased ...	ORPHA:444490
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test...	ORPHA:189427
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hyperlipidemia	OMIM:214900
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Seckel Syndrome 10	Ventricular hypertrophy, Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:617253
Knobloch Syndrome	Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology	ORPHA:1571
Peroxisome Biogenesis Disorder 1A (Zellweger)	Brushfield spots, Optic disc pallor, Cerebral cortical atrophy, Pigmentary retinopathy	OMIM:214100
Familial Multiple Lipomatosis	Hyperlipidemia, Lipodystrophy, Abnormal tricuspid valve morphology, Increased adipose tissue	ORPHA:199276
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar atrophy, Brushfield spots, Optic nerve dysplasia, Optic atrophy, Pigmentary retinopath...	OMIM:614866
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Trichothiodystrophy	Macular degeneration, Numerous pigmented freckles, Diffuse cerebellar atrophy, Cerebral cortical ...	ORPHA:33364
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Retinal dysplasia	OMIM:236670
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy, Cerebral cortical atrophy	OMIM:277400
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Retinal degeneration	OMIM:618479
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Optic atrophy, Brain atrophy	ORPHA:505248
Cockayne Syndrome Type 3	Optic disc pallor, Retinal atrophy, Retinal dystrophy, Retinal hemorrhage, Premature graying of h...	ORPHA:90324
19P13.12 Microdeletion Syndrome	Ventricular septal defect, Craniosynostosis, Hyperlipidemia, Obesity, Atrial septal defect, Arthr...	ORPHA:254346
Tangier Disease	Left ventricular hypertrophy, Coronary artery stenosis, Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Cockayne Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Reti...	ORPHA:191
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Decreased nerve con...	ORPHA:580
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Ventricular septal defect, Failure to thrive in infancy, Failure to thrive,...	OMIM:619418
Mucopolysaccharidosis Type 3	Optic atrophy, Central nervous system degeneration, Pigmentary retinopathy, Rod-cone dystrophy, R...	ORPHA:581
Abetalipoproteinemia	Abnormality of retinal pigmentation, Rod-cone dystrophy, Hypopigmentation of the fundus	ORPHA:14
Melas	Optic atrophy, Pigmentary retinopathy, Brain atrophy, Cerebral cortical atrophy, Vitiligo	ORPHA:550
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Cachexia, Hyperkalemia, Weight loss, Xanthelasma, Steatorrhea...	ORPHA:275761
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	OMIM:606721
Trisomy 18	Abnormality of retinal pigmentation	ORPHA:3380
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia, Flexion contracture, Limitation of joint mobility, Osteolysis, Osteolytic defects...	ORPHA:90153
Cockayne Syndrome A	Cerebellar atrophy, Retinal atrophy, Abnormal auditory evoked potentials, Decreased nerve conduct...	OMIM:216400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Retinal degeneration	OMIM:253280
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Vitritis, Abnorm...	ORPHA:2556
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive protein concentr...	OMIM:619573
Gaucher Disease, Type I	Macular atrophy, Hyperpigmentation of the skin	OMIM:230800
Mitochondrial Dna-Associated Leigh Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:255210
Aromatase Deficiency	Osteopenia, Eunuchoid habitus, Delayed epiphyseal ossification, Hyperlipidemia, Osteoporosis, Obe...	ORPHA:91
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Retinal degeneration	OMIM:208500
Nijmegen Breakage Syndrome	Retinal pigment epithelial mottling, Cafe-au-lait spot, Neurodegeneration, Progressive vitiligo	OMIM:251260
Infantile Nephropathic Cystinosis	Pigmentary retinopathy	ORPHA:411629
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling, Atrophy/Degeneration involving the spinal cord	OMIM:607459
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Aganglionic megacolon	ORPHA:175
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia, Failure to thrive	ORPHA:2089
Neutral Lipid Storage Myopathy	Cardiomyopathy, Hypertriglyceridemia, Obesity, Abnormal circulating creatine kinase concentration	ORPHA:98908
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Cerebellar atrophy, Optic atrophy, Cerebral atrophy, ...	ORPHA:404454
Farber Disease	Macular degeneration, Cherry red spot of the macula, Brain atrophy	ORPHA:333
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hypopigmented skin patches, M...	ORPHA:636
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation	OMIM:272460
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti...	ORPHA:217085
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy	OMIM:618460
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti...	ORPHA:217093
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re...	ORPHA:91500
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy	OMIM:309801
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipoatrophy, Camptodactyly...	ORPHA:3455
Glycogen Storage Disease Ia	Hyperlipidemia, Osteoporosis, Gout, Xanthelasma, Hyperuricemia	OMIM:232200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulating acylcarnit...	ORPHA:228308
Alagille Syndrome 1	Failure to thrive, Hypertriglyceridemia, Ventricular septal defect, Atrial septal defect, Hyperch...	OMIM:118450
Cockayne Syndrome B	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Cerebral...	OMIM:133540
Alport Syndrome	Macular degeneration, Retinal flecks	ORPHA:63
Cystinosis, Nephropathic	Hypopigmentation of hair, Retinal pigment epithelial mottling, Cerebral atrophy, Pigmentary retin...	OMIM:219800
Bohring-Opitz Syndrome	Retinal atrophy, Optic atrophy	ORPHA:97297
Osteopetrosis With Renal Tubular Acidosis	Cranial nerve compression, Retinal atrophy, Optic atrophy, Abnormal retinal morphology	ORPHA:2785
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Small for gestational age, Lipoatrophy...	OMIM:264090
Glycogen Storage Disease Ib	Hyperlipidemia, Osteoporosis, Gout, Xanthelasma, Hyperuricemia	OMIM:232220
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Joint hemorrhage, Hyperuricemia	ORPHA:35909
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,...	ORPHA:1435
Say-Barber-Miller Syndrome	Macular degeneration, Rod-cone dystrophy, Optic atrophy	ORPHA:3132
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Retina...	ORPHA:744
Leptospirosis	Pericarditis, Hyperproteinemia	ORPHA:509
Griscelli Syndrome Type 2	Hyperlipidemia	ORPHA:79477
Pearson Syndrome	Pigmentary retinopathy, Cafe-au-lait spot, Hyperpigmentation of the skin	ORPHA:699
Aapoaiv Amyloidosis	Hypertrophic cardiomyopathy, Cardiac amyloidosis, Elevated circulating creatinine concentration, ...	ORPHA:439232
Fabry Disease	Abnormal endocardium morphology, Hyperlipidemia, Reduced bone mineral density, Arthritis, Abnorma...	ORPHA:324
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Retinal dystrophy, Rod-cone dystrophy, Macular degeneration, Fair hair, Attenuation of retinal bl...	OMIM:266920
Hardikar Syndrome	Pigmentary retinopathy	OMIM:301068
Primary Triglyceride Deposit Cardiomyovasculopathy	Elevated circulating creatine kinase concentration, Hyperlipidemia, Abnormal cardiomyocyte morpho...	ORPHA:565612
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Hyperlipidemia, Small for gestational age, Abnormal circulating fa...	ORPHA:567983
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Woodhouse-Sakati Syndrome	Osteopenia, Hyperlipidemia	ORPHA:3464
Glycogen Storage Disease Ic	Xanthelasma, Hyperlipidemia, Hyperuricemia, Gout	OMIM:232240
Alström Syndrome	Hypertriglyceridemia, Dorsocervical fat pad, Hyperlipidemia, Dilated cardiomyopathy, Myocardial f...	ORPHA:64
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Myocardial steatosis	ORPHA:391665

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Rab28

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rab28.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.	Cells (April 2020)	Rab28^{tm1d(EUCOMM)Hmgu}	32290105
The small GTPase RAB28 is required for phagocytosis of cone outer segments by the murine retinal pigmented epithelium.	The Journal of biological chemistry (September 2018)	Rab28^{tm1a(EUCOMM)Hmgu} Rab28^{tm1a(EUCOMM)Wtsi}	30228185

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Rab28^em1(IMPC)J	Exon Deletion	Mice
Rab28^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Rab28^{em2(IMPC)Wtsi}	Exon Deletion	Mice
Rab28^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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