Gene Summary

Name:
odorant binding protein 2A
Synonyms:
Lcn13

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 coat/hair pigmentation Obp2atm1b(EUCOMM)Wtsi HOM Early adult 1.37×10-08
abnormal optic disk morphology Obp2atm1b(EUCOMM)Wtsi HOM   Early adult 1.83×10-05
persistence of hyaloid vascular system Obp2atm1b(EUCOMM)Wtsi HOM   Early adult 5.18×10-05
increased circulating cholesterol level Obp2atm1b(EUCOMM)Wtsi HOM Early adult 9.99×10-05
abnormal retina blood vessel morphology Obp2atm1b(EUCOMM)Wtsi HOM   Early adult 3.13×10-05
abnormal retina vasculature morphology Obp2atm1b(EUCOMM)Wtsi HOM   Early adult 4.32×10-05

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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

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

Immunophenotyping

Panel B FCS file(s)

5 Images

Immunophenotyping

Panel A FCS file(s)

5 Images

Human diseases caused by Obp2a mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Obp2a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinitis Pigmentosa 57
Rod-cone dystrophy, Cystoid macular edema, Optic disc pallor, Attenuation of retinal blood vessels OMIM:613582
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Optic disc pallor, Macular dystrophy OMIM:616170
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Foveal Hypoplasia-Presenile Cataract Syndrome
Generalized hyperpigmentation, Optic atrophy ORPHA:2253
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Optic Atrophy 2
Optic atrophy OMIM:311050
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Cranial nerve compression, Macular atrophy, Optic atrophy OMIM:250450
Optic Atrophy 5
Optic atrophy OMIM:610708
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Retinitis Pigmentosa 30
Optic atrophy, Rod-cone dystrophy, Chorioretinal atrophy, Bone spicule pigmentation of the retina... OMIM:607921
Retinitis Pigmentosa 71
Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescenc... OMIM:616394
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of the fundus, Hypopigmentation of hair, Iris hypo... OMIM:126070
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Occipital Hair, White Lock Of
Abnormal hair morphology, White hair OMIM:310900
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Hypopigmentation of the fundus, Albinism, Blue irides, Macular hypoplasia OMIM:606574
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Hypopigmentation of the fundus, Hypopigmentation of hair, Albinism OMIM:606952
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor, Optic atrophy OMIM:609021
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Peripheral axonal neuropathy, Optic disc pallor, Optic atrophy OMIM:617087
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Liberfarb Syndrome
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ... OMIM:618889
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
Loose Anagen Hair Syndrome
Fair hair, Sparse hair, Loose anagen hair OMIM:600628
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Abnormal retinal morphology, Sparse lateral ... ORPHA:170
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Vitreoretinopathy, Peripheral tr... OMIM:143200
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Retinohepatoendocrinologic Syndrome
Elevated circulating creatine kinase concentration, Cone dystrophy, Abnormality of skin pigmentat... OMIM:268040
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:165300
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Ceroid Lipofuscinosis, Neuronal, 9
Rod-cone dystrophy, Optic atrophy OMIM:609055
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Numerous pigmented freckles, White forelock, Patchy hypo- and hyperpigmen... OMIM:601706
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Retinitis Pigmentosa 50
Retinal flecks, Retinal detachment, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal... OMIM:613194
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Optic disc pallor, Macular degeneration, Macular atrophy, Peri... OMIM:600138
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cystoid macular edema, Retinal detachment... ORPHA:179
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypoplasia of the fovea, Hypopigmentation of the skin, Iris transillumi... OMIM:619165
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Abnormality of the optic nerve, Hypopigmenta... ORPHA:33445
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Optic atrophy ORPHA:2732
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Retinitis Pigmentosa 28
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:606068
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy OMIM:614296
Retinitis Pigmentosa 26
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:608380
Retinitis Pigmentosa 88
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... OMIM:618826
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Cone/cone-ro... OMIM:614500
Night Blindness, Congenital Stationary, Type 1G
Rod-cone dystrophy, Optic disc pallor, Congenital stationary night blindness OMIM:616389
Retinitis Pigmentosa 62
Rod-cone dystrophy, Optic disc pallor OMIM:614181
Ceroid Lipofuscinosis, Neuronal, 11
Retinal dystrophy, Optic atrophy OMIM:614706
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:214450
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Macular degeneration OMIM:618195
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Tietz Syndrome
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Hypopigmentation of th... ORPHA:42665
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Ribose 5-Phosphate Isomerase Deficiency
Increased level of D-threitol in plasma, Optic atrophy, Elevated circulating ribitol concentration OMIM:608611
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Retinitis Pigmentosa 76
Retinal thinning, Peripapillary atrophy, Cystoid macular edema, Hyperautofluorescent macular lesi... OMIM:617123
Irvan Syndrome
Retinal exudate, Retinal detachment, Macular edema, Tractional retinal detachment, Vitreous float... ORPHA:209943
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Retinal detachment, Posterior retinal neov... OMIM:193235
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic disc pallor, Optic atrophy OMIM:615722
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:601718
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Optic Atrophy 6
Optic atrophy OMIM:258500
Amaurosis-Hypertrichosis Syndrome
Coarse hair, Thick eyebrow, Abnormal eyelash morphology, Cone/cone-rod dystrophy, Synophrys, Reti... ORPHA:1021
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Optic Atrophy With Demyelinating Disease Of Cns
Optic neuritis, Peripheral demyelination, Optic atrophy OMIM:165200
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Retinal dy... ORPHA:231736
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Retinal dystrophy, Optic disc pallor OMIM:616079
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... ORPHA:189
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Hypoplasia of the fovea, Hypopigmentation of the fundus, Hypopigmentati... OMIM:203200
Leber Congenital Amaurosis 9
Optic disc pallor, Attenuation of retinal blood vessels, Macular coloboma, Optic atrophy OMIM:608553
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Abnormal retinal morphology ORPHA:2786
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy OMIM:604393
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Optic atrophy, Pigmentary retinopathy OMIM:610951
Spinocerebellar Ataxia, Autosomal Recessive 12
Retinal degeneration, Optic atrophy OMIM:614322
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Spasticity, Childhood-Onset, With Hyperglycinemia
Hyperglycinemia, Optic atrophy OMIM:616859
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Papilledema OMIM:124950
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Chorioretinal dysplasia, Abnormality of retinal pigmentation, R... OMIM:251270
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of retinal pigmentation, Optic ner... ORPHA:79435
Uncombable Hair Syndrome
Patchy alopecia, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia, White hair ORPHA:1410
Griscelli Syndrome Type 1
Premature graying of hair, Retinopathy, Hyperlipidemia, Partial albinism, White hair, Iris hypopi... ORPHA:79476
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, O... OMIM:618613
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Neurodegeneration With Brain Iron Accumulation
Retinopathy, Optic atrophy ORPHA:385
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Usher Syndrome, Type 1M
Optic disc pallor, Drusen OMIM:618632
Oculocutaneous Albinism Type 3
White eyebrow, Optic nerve misrouting, Hypopigmentation of the skin, Blue irides, White eyelashes... ORPHA:79433
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Waardenburg-Shah Syndrome
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Abnormal macular morphology, ... ORPHA:897
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Peripheral axonal neuropathy, Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor OMIM:619389
Optic Atrophy 9
Optic atrophy OMIM:616289
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Hypervitaminosis A, Susceptibility To
Hypercalcemia, Alopecia totalis, Papilledema OMIM:240150
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Leukodystrophy, Hypomyelinating, 13
Optic atrophy OMIM:616881
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Retinal vascular tortuosity, Optic atrophy ORPHA:104
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy OMIM:611726
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Vogt-Koyanagi-Harada Disease
Premature graying of hair, Hypopigmented skin patches, Vitiligo, Abnormal eyelash morphology, Ret... ORPHA:3437
Eales Disease
Subhyaloid hemorrhage, Vitritis, Retinal vasculitis, Retinal thinning, Rhegmatogenous retinal det... ORPHA:40923
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic disc pallor, Optic atrophy, Macular atrophy OMIM:616171
Retinal Venous Beading
Abnormal distribution of retinal arterioles and venules, Vitreous hemorrhage, Retinal infarction,... OMIM:180080
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Retinal dysplasia, Optic atrophy OMIM:613154
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Pigmentary retinopathy, Optic disc pallor, Attenuation of r... OMIM:204100
Camos Syndrome
Optic atrophy ORPHA:83472
Developmental And Epileptic Encephalopathy 28
Retinal degeneration, Optic atrophy OMIM:616211
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Periventricular Nodular Heterotopia 7
Optic atrophy OMIM:617201
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy ORPHA:2572
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Retinal detachment, Abnormality of macular pigmentation, Optic disc pallor,... OMIM:300476
Retinitis Pigmentosa 46
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy OMIM:612572
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Retinitis Pigmentosa 49
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of re... OMIM:613756
Cone-Rod Dystrophy 3
Bull's eye maculopathy, Pigmentary retinopathy, Optic disc pallor, Cone/cone-rod dystrophy, Atten... OMIM:604116
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613265
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Rod-cone dystrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation, Optic... OMIM:311070
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy OMIM:617460
Usher Syndrome, Type Iiib
Optic disc pallor OMIM:614504
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor OMIM:217080
Developmental And Epileptic Encephalopathy 58
Optic atrophy OMIM:617830
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:607624
Merrf
Optic atrophy ORPHA:551
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Growth Hormone Insensitivity Syndrome
Abnormality of the nail, Fine hair, Hypercholesterolemia ORPHA:181393
Autosomal Recessive Spastic Paraplegia Type 74
Peripheral axonal neuropathy, Optic atrophy ORPHA:468661
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy OMIM:613162
Retinitis Pigmentosa 41
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule... OMIM:612095
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Peripheral axonal neuropathy, Optic atrophy ORPHA:496756
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Nescav Syndrome
Peripheral axonal neuropathy, Optic atrophy OMIM:614255
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Developmental And Epileptic Encephalopathy 61
Optic atrophy OMIM:617933
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Exudative vitreoretinopathy, Optic atrophy, Generalized hypopigmentation OMIM:615075
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Retinal neovascularization, Retina... OMIM:193220
Retinitis Pigmentosa 58
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of re... OMIM:613617
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy OMIM:300928
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy OMIM:619323
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Onion bulb formation, Decreased sensory nerve conduction velocity, Decreased number of peripheral... OMIM:609260
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hirsutism, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of the optic nerve, Abnormality of... ORPHA:79434
Oculocutaneous Albinism
White eyebrow, Hypopigmentation of hair, Hypoplasia of the fovea, Hypopigmentation of the fundus,... ORPHA:55
Spastic Paraplegia 55, Autosomal Recessive
Peripheral axonal neuropathy, Onion bulb formation, Optic atrophy OMIM:615035
Retinitis Pigmentosa 25
Rod-cone dystrophy, Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the re... OMIM:602772
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:895
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Optic disc pallor, Macular atrophy OMIM:615434
Hypotrichosis 8
Fair hair, Woolly hair, Coarse hair, Sparse eyebrow, Nail pits, Sparse eyelashes, Sparse axillary... OMIM:278150
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Oculocutaneous Albinism Type 1
White eyebrow, Hypoplasia of the fovea, Optic nerve misrouting, Blue irides, White eyelashes, Iri... ORPHA:352731
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic disc pallor, Optic atrophy OMIM:618776
Oculocutaneous Albinism Type 2
Macular hypopigmentation, White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypoplas... ORPHA:79432
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Retinal degeneration, Optic atrophy OMIM:602271
Brunet-Wagner Neurodevelopmental Syndrome
Thin eyebrow, Low anterior hairline, Optic atrophy OMIM:619690
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
Cavitary Optic Disc Anomalies
Peripapillary atrophy OMIM:611543
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Optic disc coloboma, Retinal detachment ORPHA:35737
Leber Congenital Amaurosis 14
Rod-cone dystrophy, Optic disc pallor, Retinal dystrophy OMIM:613341
Salt And Pepper Developmental Regression Syndrome
Hypermelanotic macule, Abnormality of skin pigmentation, Optic atrophy OMIM:609056
Spastic Paraplegia 81, Autosomal Recessive
Retinal vascular tortuosity, Optic atrophy OMIM:618768
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Facial palsy, Optic atrophy ORPHA:178377
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Geographic atrophy OMIM:180105
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic ner... OMIM:120200
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, Abnormal eyelash morp... ORPHA:2885
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Retinal vascular tortuosity, Abnormality of the optic disc ORPHA:440727
Smith-Magenis Syndrome
Retinal detachment, Hypercholesterolemia, Hypertriglyceridemia, Synophrys OMIM:182290
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Frontal upsweep of hair OMIM:300983
Ermine Phenotype
White eyebrow, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White hair OMIM:227010
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy ORPHA:1171
Cherubism
Optic atrophy ORPHA:184
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... OMIM:613581
Ceroid Lipofuscinosis, Neuronal, 1
Retinal degeneration, Macular degeneration, Optic atrophy OMIM:256730
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Retinal detachment, Iris coloboma, Optic atrophy ORPHA:1473
Retinitis Pigmentosa 43
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the r... OMIM:613810
Ceroid Lipofuscinosis, Neuronal, 3
Rod-cone dystrophy, Macular degeneration, Optic atrophy OMIM:204200
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Peripheral axonal neuropathy, Optic atrophy OMIM:617207
Sclerosteosis
Facial palsy, Fingernail dysplasia, Optic atrophy ORPHA:3152
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy OMIM:619303
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Optic atrophy, Decreased nerve conduction velocity ORPHA:98890
Pontocerebellar Hypoplasia Type 10
Optic atrophy, Highly arched eyebrow, Long eyelashes ORPHA:411493
Spinocerebellar Ataxia 7
Pigmentary retinopathy, Macular degeneration, Optic atrophy OMIM:164500
Retinitis Pigmentosa 74
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy OMIM:616562
Joubert Syndrome 28
Pigmentary retinopathy, Optic disc pallor, Highly arched eyebrow OMIM:617121
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Elevated circulating creatine kinase concentration, Optic atrophy OMIM:613151
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholesterolemia, Lactescent... OMIM:238600
Woods Syndrome
Frontal hirsutism, Broad nail, Supernumerary nipple, Hypoplastic fifth toenail, Optic atrophy OMIM:615236
Craniodiaphyseal Dysplasia
Optic atrophy ORPHA:1513
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Optic atrophy OMIM:274270
Waardenburg Syndrome, Type 2A
Premature graying of hair, White eyebrow, Heterochromia iridis, Albinism, White forelock, Partial... OMIM:193510
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor OMIM:616732
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Small nail, Optic atrophy OMIM:619470
Retinitis Pigmentosa 14
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriola... OMIM:600132
Developmental And Epileptic Encephalopathy 16
Optic atrophy OMIM:615338
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Leber Congenital Amaurosis 16
Optic disc pallor OMIM:614186
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic nerve hypoplasia, Optic disc hypoplasia, Peripheral vitreous opacit... ORPHA:137902
Filippi Syndrome
Sparse hair, Hypertrichosis, Optic atrophy, Frontal hirsutism OMIM:272440
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic atrophy OMIM:617086
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elevated circulating methylsuccinic acid concentrat... OMIM:618156
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Leber Congenital Amaurosis 15
Retinopathy, Retinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Optic atrophy, Rod-cone dystrophy OMIM:264470
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:277580
Craniodiaphyseal Dysplasia, Autosomal Dominant
Facial diplegia, Optic atrophy, Papilledema OMIM:122860
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Peripheral axonal neuropathy, Optic atrophy OMIM:619425
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Wildervanck Syndrome
Facial palsy, Pseudopapilledema, Low posterior hairline ORPHA:3456
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy OMIM:258501
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy OMIM:618228
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Long eyelashes OMIM:617281
Mitochondrial Complex I Deficiency, Nuclear Type 7
Optic atrophy OMIM:618229
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Hypercholesterolemia, Decreased number of large peripheral myelin... OMIM:208920
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Optic atrophy OMIM:618324
Gm1-Gangliosidosis, Type Ii
Optic atrophy OMIM:230600
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Retinal degeneration, Optic atrophy OMIM:214980
Null Syndrome
Abnormality of peripheral nerve conduction, Peripheral demyelination, Optic atrophy, Decreased ne... ORPHA:280234
Combined Saposin Deficiency
Optic atrophy OMIM:611721
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Optic atrophy OMIM:612989
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic atrophy OMIM:617282
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Norrie Disease
Retinal fold, Retinal detachment, Retinal dysplasia, Optic atrophy OMIM:310600
Retinitis Pigmentosa 72
Peripapillary atrophy, Optic disc pallor, Rod-cone dystrophy OMIM:616469
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Sensory axonal neuropathy, Optic atrophy ORPHA:329314
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Optic Atrophy 1
Optic atrophy OMIM:165500
Optic Atrophy 8
Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials, Optic atrophy OMIM:616648
Retinitis Pigmentosa 66
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:615233
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of the optic nerve, Hypopigmentati... ORPHA:79431
Juvenile Paget Disease
Abnormality of retinal pigmentation, Melanocytic nevus, Optic atrophy, Hyperuricemia ORPHA:2801
Srd5A3-Cdg
Optic disc hypoplasia, Rod-cone dystrophy, Coloboma, Spotty hyperpigmentation, Hypertrichosis, Op... ORPHA:324737
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Elevated circulating acylcarnitine concentration ORPHA:26792
Piebaldism
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, White ... ORPHA:2884
Progressive Myoclonic Epilepsy With Dystonia
Optic atrophy ORPHA:352596
Juvenile Glaucoma
Retinal vein occlusion, Temporal optic disc pallor, Abnormality of the optic nerve, Optic neuropa... ORPHA:98977
Behr Syndrome
Optic atrophy OMIM:210000
Narp Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal arteriolar tortuosity, Rod-cone d... ORPHA:644
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Optic atrophy OMIM:617669
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor OMIM:619446
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Sensory axonal neuropathy, Abnormal peripheral action potential amplitude, Decreased nerve conduc... ORPHA:457205
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Brittle hair, Woolly hair, Nail dysplasia, Concave nail, Trichorrhexis nodosa, Abnorm... OMIM:234050
Sarcosinemia
Hypersarcosinemia, Optic atrophy ORPHA:3129
Lissencephaly 8
Elevated circulating creatine kinase concentration, Optic atrophy OMIM:617255
Congenital Hydrocephalus
Iris coloboma, Macular hypoplasia, Optic atrophy ORPHA:2185
Waardenburg Syndrome Type 1
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopig... ORPHA:894
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Optic atrophy OMIM:614702
Mitochondrial Complex I Deficiency, Nuclear Type 14
Optic atrophy OMIM:618236
Leber Optic Atrophy
Leber optic atrophy, Optic neuropathy, Optic atrophy, Central retinal vessel vascular tortuosity OMIM:535000
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Thick eyebrow, Optic atrophy, Synophrys OMIM:618737
Cofs Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1466
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hypercholesterolemia, Low anterior hairline, Hypertriglyceridemia, Hyp... ORPHA:528
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy OMIM:248000
Triple A Syndrome
Iris coloboma, Generalized hyperpigmentation, Optic atrophy, Motor axonal neuropathy ORPHA:869
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy ORPHA:352682
Bardet-Biedl Syndrome 20
Rod-cone dystrophy, Hypercholesterolemia, Retinal vascular tortuosity, Papilledema OMIM:619471
Morgagni-Stewart-Morel Syndrome
Hirsutism, Hypercholesterolemia, Hyperuricemia ORPHA:77296
Diencephalic Syndrome
Optic atrophy ORPHA:1672
Pontocerebellar Hypoplasia, Type 9
Peripheral axonal neuropathy, Optic atrophy OMIM:615809
Mandibuloacral Dysplasia
Abnormality of skin pigmentation, Hypercholesterolemia, Increased circulating free fatty acid lev... ORPHA:2457
Leigh Syndrome With Leukodystrophy
Pigmentary retinopathy, Optic atrophy, Hypertrichosis ORPHA:255241
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Optic disc pallo... ORPHA:97229
Atypical Pantothenate Kinase-Associated Neurodegeneration
Retinopathy, Optic atrophy ORPHA:216873
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology ORPHA:791
Spastic Paraplegia 2, X-Linked
Optic atrophy OMIM:312920
Late-Onset Retinal Degeneration
Fundus atrophy, Peripapillary atrophy, Iris transillumination defect, Multifocal subretinal depos... ORPHA:67042
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy ORPHA:99014
Hsd10 Mitochondrial Disease
Retinal degeneration, Optic atrophy OMIM:300438
Mucolipidosis Iv
Retinal degeneration, Optic atrophy OMIM:252650
Piebald Trait
Heterochromia iridis, Absent pigmentation of the ventral chest, White forelock, Aganglionic megac... OMIM:172800
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Abnormal retinal nerve fiber layer morphology, Absent brainstem audit... ORPHA:1215
Autosomal Recessive Progressive External Ophthalmoplegia
Optic neuritis, Sensory axonal neuropathy, Abnormal retinal morphology, Elevated circulating crea... ORPHA:254886
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperprolinemia, Optic disc pallor, Hyperalaninemia OMIM:619170
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal degen... ORPHA:364055
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Fundus atrophy, Thick eyebrow, Broad nail, Synophrys, Hirsutism, Optic atrophy ORPHA:1970
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Optic atrophy OMIM:270500
Smith-Magenis Syndrome
Retinal detachment, Hypercholesterolemia, Hypertriglyceridemia, Synophrys ORPHA:819
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Cherry red spot of the macula, Optic disc pallor OMIM:615281
Developmental And Epileptic Encephalopathy 48
Rod-cone dystrophy, Optic disc pallor, Long eyelashes OMIM:617276
Wolfram-Like Syndrome
Peripheral axonal neuropathy, Optic atrophy ORPHA:411590
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Peripheral demyelination, Optic atrophy OMIM:258650
Posterior Column Ataxia With Retinitis Pigmentosa
Peripheral demyelination, Optic atrophy, Decreased sensory nerve conduction velocity, Pigmentary ... OMIM:609033
Spastic Paraplegia 85, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:619686
Mitochondrial Complex I Deficiency, Nuclear Type 33
Optic atrophy, Hyperammonemia OMIM:618253
Peroxisome Biogenesis Disorder 8B
Retinal dystrophy, Optic atrophy OMIM:614877
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Hyperalaninemia, Increased serum pyruvate, Optic atrophy OMIM:245349
9Q31.1Q31.3 Microdeletion Syndrome
Thick hair, Highly arched eyebrow, Hypercholesterolemia ORPHA:401923
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy OMIM:619057
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy OMIM:614651
Warburg Micro Syndrome 1
Optic atrophy, Facial hypertrichosis, Hypertrichosis OMIM:600118
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Hypoplasia of the fovea, Albinism, Blue irides, Ocular albinism, White ... OMIM:203100
Cog4-Cdg
Thick hair, Hypercholesterolemia ORPHA:263501
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Decreased serum iron, Retinal atrophy, Optic disc pallor, Epi... OMIM:616959
Developmental And Epileptic Encephalopathy 93
Iris coloboma, Optic atrophy OMIM:618012
Multiple Mitochondrial Dysfunctions Syndrome 6
Optic disc pallor OMIM:617954
Linear Skin Defects With Multiple Congenital Anomalies 2
Optic disc pallor, Highly arched eyebrow OMIM:300887
Incontinentia Pigmenti
Atrophic, patchy alopecia, Abnormality of skin pigmentation, Retinal vascular proliferation, Coar... OMIM:308300
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Pulmonary carcinoid tumor, Hypercholesterolemia, Absent eyelashes, Abs... ORPHA:363618
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Supernumerary nipple, Optic atrophy ORPHA:1173
Osteopetrosis, Autosomal Recessive 8
Facial palsy, Optic atrophy OMIM:615085
Multiple Carboxylase Deficiency
Optic atrophy, Hyperammonemia, Alopecia ORPHA:148
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor OMIM:618527
Beta-Propeller Protein-Associated Neurodegeneration
Abnormal autonomic nervous system physiology, Optic atrophy ORPHA:329284
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Optic atrophy ORPHA:1528
Dermoid Cysts, Familial Frontonasal
Papilledema OMIM:600679
Proximal Myopathy With Extrapyramidal Signs
Peripheral axonal neuropathy, Mildly elevated creatine kinase, Optic atrophy ORPHA:401768
Mitochondrial Complex I Deficiency, Nuclear Type 28
Hyperalaninemia, Optic neuropathy, Optic atrophy OMIM:618249
Optic Pathway Glioma
Neurofibromas, Optic atrophy, Papilledema ORPHA:2086
Laron Syndrome
Hypercholesterolemia ORPHA:633
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Optic disc coloboma, Retinal coloboma OMIM:216820
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Ermine Phenotype
Hypopigmentation of hair, Hypopigmented skin patches, Ocular albinism, Iris hypopigmentation, Irr... ORPHA:999
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Red hair OMIM:609734
Spastic Paraplegia 5A, Autosomal Recessive
Optic atrophy OMIM:270800
Optic Atrophy 11
Facial diplegia, Optic atrophy OMIM:617302
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Hyperlipidemia, Partial albinism, Iris hypop... ORPHA:79477
Adams-Oliver Syndrome 2
Small nail, Low anterior hairline, Optic atrophy OMIM:614219
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy ORPHA:254343
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Acute hyperamm... ORPHA:247585
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Schindler Disease, Type I
Optic atrophy OMIM:609241
Leukodystrophy, Hypomyelinating, 6
Optic atrophy OMIM:612438
Leigh Syndrome
Pigmentary retinopathy, Optic atrophy, Hypertrichosis OMIM:256000
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:252011
Mitochondrial Complex I Deficiency, Nuclear Type 15
Peripheral demyelination, Optic atrophy OMIM:618237
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Sensory axonal neuropathy, Optic disc pallor, Optic atrophy, Motor axonal neuropathy OMIM:609541
Infantile Refsum Disease
Facial palsy, Elevated levels of phytanic acid, Optic atrophy, Rod-cone dystrophy ORPHA:772
Spastic Paraplegia 75, Autosomal Recessive
Optic atrophy OMIM:616680
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... ORPHA:247598
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Leukodystrophy, Hypomyelinating, 2
Facial palsy, Decreased motor nerve conduction velocity, Optic atrophy, Sensory axonal neuropathy OMIM:608804
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:177910
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Optic atrophy OMIM:618688
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy OMIM:618238
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Thick eyebrow, Fine hair, Optic atrophy OMIM:614800
Brown-Vialetto-Van Laere Syndrome 2
Facial palsy, Optic atrophy OMIM:614707
Neuronal Intranuclear Inclusion Disease
Optic atrophy ORPHA:2289
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Retinal degeneration, Geographic atrophy, Abnormal auditory evoked potentials, Synophrys, Optic d... OMIM:619260
Congenital Disorder Of Glycosylation, Type Iu
Elevated circulating creatine kinase concentration, Optic atrophy OMIM:615042
Madras Motor Neuron Disease
Facial palsy, Optic atrophy ORPHA:137867
Carney Complex, Type 1
Schwannoma, Pheochromocytoma, Profuse pigmented skin lesions, Multiple lentigines, Freckling, Hir... OMIM:160980
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy ORPHA:466794
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Peripheral axonal neuropathy, Optic disc pallor, Optic atrophy, Decreased number of peripheral my... ORPHA:320406
Osteopetrosis, Autosomal Recessive 4
Facial palsy, Optic disc pallor, Optic atrophy OMIM:611490
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Rod-cone dystrophy, Optic atrophy, Decreased nerve conduction velocity OMIM:612674
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Retinal degeneration, Optic atrophy OMIM:249270
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Thiamine-Responsive Megaloblastic Anemia Syndrome
Retinal dystrophy, Optic atrophy ORPHA:49827
3-Methylglutaconic Aciduria Type 9
Optic atrophy ORPHA:505216
Deafness, Dystonia, And Cerebral Hypomyelination
Optic atrophy OMIM:300475
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Abnormal autonomic nervous system physiology, Optic atrophy OMIM:614498
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
3-Methylglutaconic Aciduria, Type Ix
Optic atrophy, Long eyelashes OMIM:617698
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Long eyelashes OMIM:617523
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Optic atrophy ORPHA:1154
Wolfram Syndrome, Mitochondrial Form
Abnormal autonomic nervous system physiology, Optic atrophy OMIM:598500
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:614072
Blepharonasofacial Malformation Syndrome
Abnormal eyelash morphology, Optic atrophy, Low posterior hairline, Sparse lateral eyebrow ORPHA:1252
Leukodystrophy, Hypomyelinating, 22
Optic disc pallor OMIM:619328
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia ORPHA:79237
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Elevated circulating creatine kinase concentration, Optic atrophy OMIM:251900
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Optic nerve hypoplasia, Optic atrophy ORPHA:163937
Congenital Muscular Dystrophy, Fukuyama Type
Retinal dysplasia, Optic atrophy ORPHA:272
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor ORPHA:3173
Lissencephaly 5
Optic atrophy OMIM:615191
Congenital Disorder Of Glycosylation, Type Ie
Retinopathy, Abnormal macular morphology, Nail dysplasia, Elevated circulating creatine kinase co... OMIM:608799
Childhood-Onset Spasticity With Hyperglycinemia
Nonketotic hyperglycinemia, Optic atrophy ORPHA:401866
Canavan Disease
Increased circulating N-Acetylaspartic acid concentration, Optic atrophy OMIM:271900
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy ORPHA:44
Krabbe Disease
Peripheral demyelination, Optic atrophy, Decreased nerve conduction velocity OMIM:245200
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LD... OMIM:278000
L-2-Hydroxyglutaric Aciduria
L-2-hydroxyglutaric acidemia, Optic atrophy OMIM:236792
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Decreased circulating cortisol level, Abnormal autonomic nervous system ... OMIM:231550
Hermansky-Pudlak Syndrome 11
Fair hair, Hypoplasia of the fovea, Albinism, Iris transillumination defect, Ocular albinism, Mel... OMIM:619172
Chromosome 19P13.13 Deletion Syndrome
Optic nerve hypoplasia, Optic atrophy OMIM:613638
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy OMIM:617810
Crouzon Syndrome
Melanocytic nevus, Iris coloboma, Optic atrophy, Hypopigmented skin patches ORPHA:207
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Remnants of the hyaloid vascular system, Retinal fold,... ORPHA:91495
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Small nail, Hypercholesterolemia, Hypertriglyceridemia, Nail dystrophy OMIM:610644
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Abnormal eyebrow morphology, Fine hair ORPHA:2221
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Abnormal eyelash morphology, Optic atrophy ORPHA:2518
Developmental And Epileptic Encephalopathy 47
Optic disc pallor OMIM:617166
Leber Optic Atrophy And Dystonia
Leber optic atrophy, Optic atrophy OMIM:500001
Chromosome Xp11.3 Deletion Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic atrophy OMIM:300578
Arts Syndrome
Optic atrophy OMIM:301835
Spinocerebellar Ataxia, Autosomal Recessive 28
Optic atrophy OMIM:618800
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Retinal detachment, Retinal fold, Optic atrophy OMIM:152950
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Optic atrophy, Low anterior hairline, Synophrys, Hirsutism, Hyperconvex nail OMIM:300004
Hermansky-Pudlak Syndrome 8
Albinism, Optic disc pallor, Ocular albinism, Hypoplasia of the fovea OMIM:614077
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Optic disc pallor, Long eyelashes OMIM:619076
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Leukodystrophy, Progressive, Early Childhood-Onset
Thick eyebrow, Optic disc pallor OMIM:617762
Spastic Paraplegia Type 7
Optic disc pallor, Optic atrophy ORPHA:99013
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Sensory axonal neuropathy, Mildly elevated creatine kinase, Elevated circulating creatine kinase ... OMIM:258450
Zika Virus Disease
Absent foveal reflex, Optic disc hypoplasia, Retinal pigment epithelial mottling, Abnormality of ... ORPHA:448237
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Hyperammonemia ORPHA:289916
Megalocornea-Mental Retardation Syndrome
Low anterior hairline, Hypercholesterolemia OMIM:249310
Congenital Disorder Of Glycosylation, Type Id
Small nail, Iris coloboma, Nail dysplasia, Optic atrophy OMIM:601110
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Axonal degeneration/... OMIM:601152
Spinocerebellar Ataxia, Autosomal Recessive 18
Optic disc pallor OMIM:616204
Spinocerebellar Ataxia 13
Optic atrophy OMIM:605259
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, ... OMIM:203300
Dysbetalipoproteinemia
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration,... ORPHA:412
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Hypercholesterolemia, Increased serum bile acid concentration, Conjug... OMIM:619662
Hyperostosis Cranialis Interna
Facial palsy, Optic atrophy OMIM:144755
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Fair hair, Sparse scalp hair, Sparse pubic hair, Absent eyebrow, Nail dystrophy, Onychogryposis, ... OMIM:601375
Stt3B-Cdg
Optic atrophy ORPHA:370924
Classic Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy ORPHA:216866
Multiple Sulfatase Deficiency
Coarse hair, Thick eyebrow, Abnormality of retinal pigmentation, Optic atrophy, Abnormality of pe... ORPHA:585
Combined Oxidative Phosphorylation Deficiency 7
Facial diplegia, Optic atrophy OMIM:613559
Spastic Paraplegia Type 2
Optic atrophy ORPHA:99015
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Temporal optic disc pallor OMIM:619649
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Pigmentary retinopathy,... ORPHA:96180
Waardenburg Syndrome
Premature graying of hair, Hypopigmentation of hair, Abnormality of skin pigmentation, Heterochro... ORPHA:3440
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Enlarged peripheral nerve, Hypertriglyceridemia, Hirsutism, Decreased HDL c... OMIM:151660
Combined Oxidative Phosphorylation Deficiency 29
Retinopathy, Axonal degeneration, Optic atrophy, Optic neuropathy OMIM:616811
Keutel Syndrome
Optic atrophy, Alopecia ORPHA:85202
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy OMIM:615597
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Waardenburg Syndrome, Type 2E
White eyebrow, Premature graying of hair, Heterochromia iridis, Hypopigmented skin patches, Hypop... OMIM:611584
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:210250
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Optic atrophy, Hyperammonemia OMIM:614739
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... ORPHA:3214
Muscle-Eye-Brain Disease
Elevated circulating creatine kinase concentration, Optic atrophy ORPHA:588
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Optic atrophy OMIM:614388
Developmental And Epileptic Encephalopathy 75