Optic atrophy

Symptom Information:

Symptom ID: HPO:0000648
Synonyms:
Optic nerve atrophy [HPO:0000648]
Optic-nerve degeneration [HPO:0000648]
Optic nerve atrophy [Orphanet:5390]
Optic atrophy (disorder) [Orphanet:5390]
Optic Atrophy [Orphanet:5390]
Optic atrophy [OMIM:Optic atrophy]
Optic nerve atrophy [OMIM:Optic nerve atrophy]
Optic-nerve degeneration [OMIM:Optic-nerve degeneration]
Optic nerve anomaly/optic atrophy/anomaly of the papilla [Orphanet:5390]
Optic atrophy [Orphanet:5390]
Optic atrophy [MedDRA:10030910]
Atrophy optic [MedDRA:10030910]
Atrophy optic nerve [MedDRA:10030910]
Optic atrophy associated with retinal dystrophies [MedDRA:10030910]
Optic atrophy, unspecified [MedDRA:10030910]
Optic disc atrophy [MedDRA:10030910]
Optic disc pallor excessive [MedDRA:10030910]
Partial optic atrophy [MedDRA:10030910]
Postinflammatory optic atrophy [MedDRA:10030910]
Primary optic atrophy [MedDRA:10030910]
Temporal pallor (optic disc) [MedDRA:10030910]
Post inflammatory optic atrophy [MedDRA:10030910]
Optic nerve pallor [MedDRA:10030910]
Optic atrophy (1 patient) [OMIM:Optic atrophy (1 patient)]
Optic atrophy (67%) [OMIM:Optic atrophy (67%)]
Optic atrophy (chronic phase) [OMIM:Optic atrophy (chronic phase)]
Optic atrophy (in 1 of 3 patients) [OMIM:Optic atrophy (in 1 of 3 patients)]
Optic atrophy (in 1 of 5 patients) [OMIM:Optic atrophy (in 1 of 5 patients)]
Optic atrophy (in 1 patient) [OMIM:Optic atrophy (in 1 patient)]
Optic atrophy (in some patients) [OMIM:Optic atrophy (in some patients)]
Optic atrophy (rare) [OMIM:Optic atrophy (rare)]
Optic atrophy (reported in 1 patient) [OMIM:Optic atrophy (reported in 1 patient)]
Optic atrophy (seen in patients older than 45 years) [OMIM:Optic atrophy (seen in patients older than 45 years)]
Optic atrophy (uncommon) [OMIM:Optic atrophy (uncommon)]
Optic disc atrophy (in some older patients) [OMIM:Optic disc atrophy (in some older patients)]
Quality:
Cross references:
Orphanet:5390 "Optic nerve anomaly/optic atrophy/anomaly of the papilla" [Orphanet:5390]
OMIM: "Optic atrophy" [OMIM:Optic atrophy]
OMIM: "Optic nerve atrophy" [OMIM:Optic nerve atrophy]
OMIM: "Optic-nerve degeneration" [OMIM:Optic-nerve degeneration]
OMIM: "Optic atrophy (1 patient)" [OMIM:Optic atrophy (1 patient)]
OMIM: "Optic atrophy (67%)" [OMIM:Optic atrophy (67%)]
OMIM: "Optic atrophy (chronic phase)" [OMIM:Optic atrophy (chronic phase)]
OMIM: "Optic atrophy (in 1 of 3 patients)" [OMIM:Optic atrophy (in 1 of 3 patients)]
OMIM: "Optic atrophy (in 1 of 5 patients)" [OMIM:Optic atrophy (in 1 of 5 patients)]
OMIM: "Optic atrophy (in 1 patient)" [OMIM:Optic atrophy (in 1 patient)]
OMIM: "Optic atrophy (in some patients)" [OMIM:Optic atrophy (in some patients)]
OMIM: "Optic atrophy (rare)" [OMIM:Optic atrophy (rare)]
OMIM: "Optic atrophy (reported in 1 patient)" [OMIM:Optic atrophy (reported in 1 patient)]
OMIM: "Optic atrophy (seen in patients older than 45 years)" [OMIM:Optic atrophy (seen in patients older than 45 years)]
OMIM: "Optic atrophy (uncommon)" [OMIM:Optic atrophy (uncommon)]
OMIM: "Optic disc atrophy (in some older patients)" [OMIM:Optic disc atrophy (in some older patients)]
UMLS:C0029124 "Optic Atrophy" [Orphanet:5390]
Is a (Direct Parents):
Orphanet Abnormality of the eye
MedDRA Optic disc abnormalities NEC
HPO         Abnormality of the optic nerve
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)
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)