DiseaseID 17973
视神经萎缩
disease
Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.
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Disease: 1Herb: 6Symptom: 12Target: 24Links: 42
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 17973
- Core Entity Id
- 76291
- Source Entity Count
- 1
- Preferred Name
- Optic Atrophy
- Name Cn
- 视神经萎缩
- Name Pinyin
- Shi Shen Jing Wei Suo
- Name En
- Optic Atrophy
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Eye Diseases; Nervous System DiseasesEye Diseases; Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic diseasegenetic disease
- Hpo Class
- Abnormality of the eye
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System DiseasesEye Diseases; Nervous System Diseases
- Hpo Class Name
- Abnormality of the eye
- Do Class Name
- disease of anatomical entitygenetic diseasegenetic disease; disease of anatomical entity
- Disease Definition
- Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Optic Atrophy
Role
preferred
Name
Optic Atrophy 1
Role
preferred
Name
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Role
preferred
Name
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Role
preferred
Name
Leber Hereditary Optic Neuropathy
Role
preferred
Name
Optic Atrophy 8
Role
preferred
Name
DOA+
Role
alias
Name
DOMINANT OPTIC ATROPHY PLUS SYNDROME
Role
alias
Name
KJER-TYPE OPTIC ATROPHY
Role
alias
Name
OAK
Role
alias
Name
OPA1
Role
alias
Name
OPTIC ATROPHY, JUVENILE
Role
alias
Name
OPTIC ATROPHY, KJER TYPE
Role
alias
Name
Optic Atrophy, Autosomal Dominant
Role
alias
Name
Optic Nerve Atrophy
Role
alias
Name
Optic-Nerve Degeneration
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0000648
Herb
HBDIS002181HBDIS007679HBDIS021118HBDIS029818
Me Sh
D009896D029241
Omim
125250165199165500
Umls
C0029124C0338508C0917796C1832466C3276549
Icd10
H47.2H47.20
Sym Map
SMDE01100SMDE01987SMDE03665SMDE04510SMDE11625
Do Class
DOID:630DOID:7
Dis Ge Net
C0029124C0338508C3276549C4085249
Orphanet
1041215
Umls Sty
T047
Hpo Class
HP:0000478
Me Sh Class
C10C11C16C18
Etcm Disease
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss
Tcmbank Disease
1053915235207157878
Itcmdb Generated
ITX-DISEASE-84D7E25F7646ITX-DISEASE-D3AE93E12930
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Page Title
Disease Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss Details page
Do Class Name
disease of anatomical entitygenetic diseasegenetic disease; disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of the eye
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic diseasegenetic disease
Hpo Disease Class
Abnormality of the eye
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Eye diseases;Neuronal diseases
Disease Definition
Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.NCI2016_02D:A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances.|MSH2017_2016_08_12:Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition.|HPO2016_07_04:Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. [HPO:probinson]SNOMEDCT_US_2016_09_01:One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life associated with optic disc pallor, visual field and color vision defects. Later onset is possible. Visual impairment is usually moderate but may range from mild to severe. In about 20% of cases, extra-ocular signs are present, such as sensorineural hearing loss or other more severe neurological signs. Transmission is autosomal dominant with a penetrance of 50%.|SNOMEDCT_US_2016_09_01:One of the most common forms of hereditary optic neuropathy characterised by progressive bilateral visual loss during the first decade of life associated with optic disc pallor, visual field and colour vision defects. Later onset is possible. Visual impairment is usually moderate but may range from mild to severe. In about 20% of cases, extra-ocular signs are present, such as sensorineural hearing loss or other more severe neurological signs. Transmission is autosomal dominant with a penetrance of 50%.|NCI2016_02D:An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss.|MSH2017_2016_08_12:Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria.
Me Sh Disease Class
Eye Diseases; Nervous System DiseasesEye Diseases; Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System DiseasesEye Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome