Optic atrophy
Symptom Information:
Symptom ID: | HPO:0000648 | |||||||||||||||||||||||||||||||||||
Synonyms: |
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Quality: | ||||||||||||||||||||||||||||||||||||
Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the eye(HPO:0000478) Abnormal eye morphology(HPO:0012372) Abnormality of the globe(HPO:0012374) Abnormality of the posterior segment of the globe(HPO:0004329) Abnormality of the fundus(HPO:0001098) Abnormality of the optic nerve(HPO:0000587) Optic atrophy(HPO:0000648) MedDRA: Eye disorders(MedDRA:10015919) Ocular structural change, deposit and degeneration NEC(MedDRA:10042261) Optic disc abnormalities NEC(MedDRA:10030913) Optic atrophy(HPO:0000648) |
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Database Frequency: | 238 / 7739 | |||||||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
14q11.2 microdeletion syndrome | (Orphanet:261120) |
1p36 deletion syndrome | (Orphanet:1606) |
3-methylglutaconic aciduria type 1 | (Orphanet:67046) |
3-methylglutaconic aciduria type 3 | (Orphanet:67047) |
ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME | (OMIM:231550) |
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE | (OMIM:101800) |
ADAMS-OLIVER SYNDROME 2 | (OMIM:614219) |
AICA-ribosiduria | (Orphanet:250977) |
ALG13-CDG | (Orphanet:324422) |
ALG3-CDG | (Orphanet:79321) |
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTICATROPHY AND MENTAL RETARDATION | (OMIM:270500) |
Acro-fronto-facio-nasal dysostosis | (Orphanet:1784) |
Acrocallosal syndrome | (Orphanet:36) |
Acrodysostosis with multiple hormone resistance | (Orphanet:280651) |
Aicardi syndrome | (Orphanet:50) |
Alpha-N-acetylgalactosaminidase deficiency | (Orphanet:3137) |
Alpha-N-acetylgalactosaminidase deficiency type 1 | (Orphanet:79279) |
Alpha-N-acetylgalactosaminidase deficiency type 3 | (Orphanet:79281) |
Alström syndrome | (Orphanet:64) |
Amish infantile epilepsy syndrome | (Orphanet:171714) |
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | (Orphanet:99947) |
Autosomal dominant optic atrophy and cataract | (Orphanet:67036) |
Autosomal dominant optic atrophy and congenital deafness | (Orphanet:3212) |
Autosomal dominant optic atrophy plus syndrome | (Orphanet:1215) |
Autosomal dominant optic atrophy, classic type | (Orphanet:98673) |
Autosomal dominant spastic paraplegia type 3 | (Orphanet:100984) |
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit | (Orphanet:284282) |
Autosomal recessive deafness-onychodystrophy syndrome | (Orphanet:79500) |
Autosomal recessive malignant osteopetrosis | (Orphanet:667) |
Autosomal recessive optic atrophy, OPA6 type | (Orphanet:99012) |
Autosomal recessive optic atrophy, OPA7 type | (Orphanet:227976) |
Autosomal recessive progressive external ophthalmoplegia | (Orphanet:254886) |
Autosomal recessive spastic ataxia - optic atrophy - dysarthria | (Orphanet:254343) |
Autosomal recessive spastic ataxia with leukoencephalopathy | (Orphanet:314603) |
Autosomal recessive spastic paraplegia type 35 | (Orphanet:171629) |
Autosomal recessive spastic paraplegia type 45 | (Orphanet:320396) |
Autosomal recessive spastic paraplegia type 55 | (Orphanet:320375) |
Autosomal recessive spastic paraplegia type 5A | (Orphanet:100986) |
Autosomal recessive spastic paraplegia type 7 | (Orphanet:99013) |
Axial spondylometaphyseal dysplasia | (Orphanet:168549) |
BROWN-VIALETTO-VAN LAERE SYNDROME 2 | (OMIM:614707) |
Baller-Gerold syndrome | (Orphanet:1225) |
Behr syndrome | (Orphanet:1239) |
Biotinidase deficiency | (Orphanet:79241) |
Blue diaper syndrome | (Orphanet:94086) |
CACH syndrome | (Orphanet:135) |
CADDS | (Orphanet:369942) |
CAMOS syndrome | (Orphanet:83472) |
CARPENTER SYNDROME 1 | (OMIM:201000) |
CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURALHEARING LOSS | (OMIM:601338) |
CHOLESTASIS WITH GALLSTONE, ATAXIA, AND VISUAL DISTURBANCE | (OMIM:214980) |
CLN1 disease | (Orphanet:228329) |
CLN11 disease | (Orphanet:314629) |
CLN3 disease | (Orphanet:228346) |
CLN7 disease | (Orphanet:228366) |
CLN9 disease | (Orphanet:228357) |
COCKAYNE SYNDROME A | (OMIM:216400) |
COCKAYNE SYNDROME B | (OMIM:133540) |
COCKAYNE SYNDROME, TYPE III | (OMIM:216411) |
CONE-ROD DYSTROPHY 15 | (OMIM:613660) |
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | (OMIM:122860) |
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE | (OMIM:218400) |
Canavan disease | (Orphanet:141) |
Carpenter syndrome | (Orphanet:65759) |
Carpenter-Waziri syndrome | (Orphanet:93973) |
Cerebellar ataxia-deafness-narcolepsy syndrome | (Orphanet:314404) |
Chudley-Lowry-Hoar syndrome | (Orphanet:93971) |
Coats plus syndrome | (Orphanet:313838) |
Cobblestone lissencephaly without muscular or ocular involvement | (Orphanet:352682) |
Cockayne syndrome | (Orphanet:191) |
Cohen syndrome | (Orphanet:193) |
Combined oxidative phosphorylation defect type 15 | (Orphanet:319524) |
Combined oxidative phosphorylation defect type 7 | (Orphanet:254930) |
Congenital muscular dystrophy with intellectual disability and severe epilepsy | (Orphanet:329178) |
Congenital or early infantile CACH syndrome | (Orphanet:157713) |
Cornelia de Lange syndrome | (Orphanet:199) |
Craniodiaphyseal dysplasia | (Orphanet:1513) |
Cree leukoencephalopathy | (Orphanet:99854) |
Crouzon disease | (Orphanet:207) |
DPM1-CDG | (Orphanet:79322) |
Deafness - encephaloneuropathy - obesity - valvulopathy | (Orphanet:254898) |
Dihydropyrimidine dehydrogenase deficiency | (Orphanet:1675) |
Dilated cardiomyopathy with ataxia | (Orphanet:66634) |
Dysosteosclerosis | (Orphanet:1782) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 | (OMIM:616211) |
Early-onset X-linked optic atrophy | (Orphanet:98890) |
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity | (Orphanet:352654) |
Encephalopathy due to prosaposin deficiency | (Orphanet:139406) |
FRIEDREICH ATAXIA, SO-CALLED, WITH OPTIC ATROPHY AND SENSORINEURALDEAFNESS | (OMIM:136600) |
Filippi syndrome | (Orphanet:3255) |
Focal dermal hypoplasia | (Orphanet:2092) |
Friedreich ataxia 1 | (OMIM:229300) |
Friedreich ataxia 2 | (OMIM:601992) |
Fumaric aciduria | (Orphanet:24) |
GAPO syndrome | (Orphanet:2067) |
GCS1-CDG | (Orphanet:79330) |
GLAUCOMA-RELATED PIGMENT DISPERSION SYNDROME | (OMIM:600510) |
GM1 gangliosidosis type 2 | (Orphanet:79256) |
Galloway-Mowat syndrome | (Orphanet:2065) |
Hereditary motor and sensory neuropathy type 6 | (Orphanet:90120) |
Holmes-Gang syndrome | (Orphanet:93970) |
Hoyeraal-Hreidarsson syndrome | (Orphanet:3322) |
Hypomyelination with atrophy of basal ganglia and cerebellum | (Orphanet:139441) |
Hypotonia-speech impairment-severe cognitive delay syndrome | (Orphanet:371364) |
Incontinentia pigmenti | (Orphanet:464) |
Infantile cerebellar-retinal degeneration | (Orphanet:313850) |
Infantile neuroaxonal dystrophy | (Orphanet:35069) |
Infantile onset spinocerebellar ataxia | (Orphanet:1186) |
Intellectual deficit, X-linked, Brooks type | (Orphanet:3056) |
Isolated cytochrome C oxidase deficiency | (Orphanet:254905) |
Isolated succinate-CoQ reductase deficiency | (Orphanet:3208) |
Jacobsen syndrome | (Orphanet:2308) |
Joubert syndrome 21 | (OMIM:615636) |
Juberg-Marsidi syndrome | (Orphanet:93972) |
Juvenile or adult CACH syndrome | (Orphanet:157719) |
KRABBE DISEASE | (OMIM:245200) |
Krabbe disease | (Orphanet:487) |
L-2-hydroxyglutaric aciduria | (Orphanet:79314) |
LEBER OPTIC ATROPHY AND DYSTONIA | (OMIM:500001) |
LEBER OPTIC ATROPHY, SUSCEPTIBILITY TO | (OMIM:308905) |
Late infantile CACH syndrome | (Orphanet:157716) |
Leber congenital amaurosis 9 | (OMIM:608553) |
Leber hereditary optic neuropathy | (Orphanet:104) |
Leber plus disease | (Orphanet:99718) |
Leigh syndrome | (Orphanet:506) |
Lethal ataxia with deafness and optic atrophy | (Orphanet:1187) |
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect | (Orphanet:330050) |
Leukoencephalopathy - ataxia - hypodontia - hypomyelination | (Orphanet:137639) |
Lymphangioleiomyomatosis | (Orphanet:538) |
MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE | (OMIM:248000) |
MEGDEL syndrome | (Orphanet:352328) |
MELAS | (Orphanet:550) |
MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY,AND SHORT STATURE | (OMIM:609037) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 | (OMIM:614255) |
MERRF | (Orphanet:551) |
MESANGIAL SCLEROSIS, DIFFUSE RENAL, WITH OCULAR ABNORMALITIES | (OMIM:249660) |
METACHROMATIC LEUKODYSTROPHY | (OMIM:250100) |
METAPHYSEAL DYSPLASIA, ANETODERMA, AND OPTIC ATROPHY | (OMIM:250450) |
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III | (OMIM:210730) |
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 | (OMIM:616171) |
MPDU1-CDG | (Orphanet:79323) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 | (OMIM:253280) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 | (OMIM:253800) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6 | (OMIM:613154) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 3 | (OMIM:613151) |
Micrencephaly - corpus callosum agenesis - abnormal genitalia | (Orphanet:2508) |
Micro syndrome | (Orphanet:2510) |
Microcephaly - lymphedema - chorioretinopathy | (Orphanet:2526) |
Microcephaly-capillary malformation syndrome | (Orphanet:294016) |
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | (Orphanet:314637) |
Mohr-Tranebjaerg syndrome | (Orphanet:52368) |
Monosomy 18q | (Orphanet:1600) |
Monosomy 5p | (Orphanet:281) |
Mucolipidosis type 4 | (Orphanet:578) |
Mucopolysaccharidosis type 2, severe form | (Orphanet:217085) |
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B | (OMIM:610217) |
Necrotizing encephalomyelopathy, subacute, of Leigh, adult | (OMIM:161700) |
Neurodegeneration with brain iron accumulation due to C19orf12 mutation | (Orphanet:289560) |
Norrie disease | (Orphanet:649) |
OPTIC ATROPHY 1 | (OMIM:165500) |
OPTIC ATROPHY 5 | (OMIM:610708) |
OPTIC ATROPHY 8 | (OMIM:616289) |
OPTIC ATROPHY WITH DEMYELINATING DISEASE OF CNS | (OMIM:165200) |
OPTIC ATROPHY WITH NEGATIVE ELECTRORETINOGRAMS | (OMIM:165510) |
OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMALRECESSIVE | (OMIM:258650) |
OPTIC ATROPHY--SPASTIC PARAPLEGIA SYNDROME | (OMIM:311100) |
OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA | (OMIM:311150) |
OPTICOCOCHLEODENTATE DEGENERATION | (OMIM:258700) |
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 | (OMIM:259700) |
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 | (OMIM:259710) |
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 | (OMIM:615085) |
Odontoleukodystrophy | (Orphanet:77295) |
Ovarioleukodystrophy | (Orphanet:99853) |
PEHO syndrome | (Orphanet:2836) |
PELIZAEUS-MERZBACHER DISEASE | (OMIM:312080) |
PERIPHERAL CONE DYSTROPHY | (OMIM:609021) |
PEROXISOME BIOGENESIS DISORDER 8B | (OMIM:614877) |
PHACE syndrome | (Orphanet:42775) |
Pantothenate kinase-associated neurodegeneration | (Orphanet:157850) |
Pelizaeus-Merzbacher-like due to GJC2 mutation | (Orphanet:280282) |
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis | (Orphanet:65288) |
Peroxisomal acyl-CoA oxidase deficiency | (Orphanet:2971) |
Phosphoenolpyruvate carboxykinase 1 deficiency | (Orphanet:79316) |
Polyarteritis nodosa, childhood-onset | (OMIM:615688) |
Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract | (Orphanet:171848) |
Pontocerebellar hypoplasia type 3 | (Orphanet:97249) |
Pontocerebellar hypoplasia, type 9 | (OMIM:615809) |
Posterior column ataxia - retinitis pigmentosa | (Orphanet:88628) |
Primary hyperoxaluria | (Orphanet:416) |
Primary hyperoxaluria type 1 | (Orphanet:93598) |
Progressive myoclonic epilepsy with dystonia | (Orphanet:352596) |
Pyruvate dehydrogenase E3 deficiency | (Orphanet:2394) |
Pyruvate dehydrogenase E3-binding protein deficiency | (Orphanet:255182) |
RETINITIS PIGMENTOSA 30 | (OMIM:607921) |
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL | (OMIM:614498) |
Renier-Gabreels-Jasper syndrome | (Orphanet:93975) |
Ribose 5-phosphate isomerase deficiency | (OMIM:608611) |
SCLEROSTEOSIS 1 | (OMIM:269500) |
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY | (OMIM:614800) |
SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE | (OMIM:615658) |
SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND DEMENTIA | (OMIM:182830) |
STRIATONIGRAL DEGENERATION, INFANTILE | (OMIM:271930) |
STT3B-CDG | (Orphanet:370924) |
Sclerosteosis | (Orphanet:3152) |
Senior-Loken syndrome 8 | (OMIM:616307) |
Severe X-linked intellectual deficit, Gustavson type | (Orphanet:3078) |
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | (Orphanet:369939) |
Short chain acyl-CoA dehydrogenase deficiency | (Orphanet:26792) |
Smith-Fineman-Myers syndrome | (Orphanet:93974) |
Spastic ataxia with congenital miosis | (Orphanet:1182) |
Spastic paraplegia type 2 | (Orphanet:99015) |
Spastic paraplegia-optic atrophy-neuropathy syndrome | (Orphanet:320406) |
Spinocerebellar ataxia type 1 | (Orphanet:98755) |
Spinocerebellar ataxia type 7 | (Orphanet:94147) |
Sporadic Leigh syndrome | (Orphanet:255199) |
TARP syndrome | (Orphanet:2886) |
TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1 | (OMIM:234050) |
Temtamy preaxial brachydactyly syndrome | (Orphanet:363417) |
Thiamine-responsive megaloblastic anemia syndrome | (Orphanet:49827) |
Triple A syndrome | (Orphanet:869) |
WARBURG MICRO SYNDROME 1 | (OMIM:600118) |
WARBURG MICRO SYNDROME 2 | (OMIM:614225) |
WARBURG MICRO SYNDROME 3 | (OMIM:614222) |
WARBURG MICRO SYNDROME 4 | (OMIM:615663) |
Wagner disease | (Orphanet:898) |
Wolfram syndrome | (Orphanet:3463) |
Wolfram syndrome 1 | (OMIM:222300) |
Wolfram syndrome 2 | (OMIM:604928) |
Wolfram syndrome, mitochondrial form | (OMIM:598500) |
Wolfram-like syndrome | (ORPHA:411590) |
X-linked Charcot-Marie-Tooth disease type 5 | (Orphanet:99014) |
X-linked intellectual deficit - hypotonic face | (Orphanet:73220) |
X-linked spinocerebellar ataxia type 3 | (Orphanet:85297) |
XFE PROGEROID SYNDROME | (OMIM:610965) |
Xeroderma pigmentosum complementation group B | (Orphanet:276252) |
[DEL] LEBER OPTIC ATROPHY | (OMIM:535000) |
[DEL] SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE | (OMIM:607259) |
[DEL] Wolfram-like syndrome, autosomal dominant | (OMIM:614296) |