ORPHA:441434
Syndromic hereditary optic neuropathy
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndromic hereditary optic neuropathy | |
| fr | Neuropathie optique héréditaire syndromique | |
| de | Syndromale hereditäre Optikus-Neuropathie | |
| es | Neuropatía óptica hereditaria sindrómica | |
| it | Neuropatia ottica ereditaria sindromica | |
| nl | Syndromale hereditaire opticusneuropathie | Syndromale erfelijke optische neuropathie |
| pt | Neuropatia óptica hereditária sindromática | |
| pl | Syndromiczna dziedziczna neuropatia nerwu wzrokowego | |
| cs | Syndromická hereditární optická neuropatie | |
| uk | Синдромальна спадкова нейропатія зорового нерва | |
| zh | 症状性遗传性视神经病变 | |
| tr | Sendromik kalıtsal optik nöropati |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18609 | E | validated | |
| UMLS | C5681189 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98671Hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders
Children (40):
- ORPHA:670473-methylglutaconic aciduria type 3
- ORPHA:542585Auditory neuropathy-optic atrophy syndrome
- ORPHA:227976Autosomal recessive optic atrophy, OPA7 type
- ORPHA:495844C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
- ORPHA:497623C12ORF65-related combined oxidative phosphorylation defect
- ORPHA:83472CAMOS syndrome
- ORPHA:1171Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
- ORPHA:98890Early-onset X-linked optic atrophy
- ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- ORPHA:352654Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
- ORPHA:329308Fatty acid hydroxylase-associated neurodegeneration
- ORPHA:2067GAPO syndrome
- ORPHA:313850Infantile cerebellar-retinal degeneration
- ORPHA:457205Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
- ORPHA:487Krabbe disease
- ORPHA:508093MEPAN syndrome
- ORPHA:551MERRF
- ORPHA:512Metachromatic leukodystrophy
- ORPHA:289560Mitochondrial membrane protein-associated neurodegeneration
- ORPHA:52368Mohr-Tranebjaerg syndrome
- ORPHA:457406Multiple mitochondrial dysfunctions syndrome type 4
- ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndrome
- ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
- ORPHA:401777Optic atrophy-intellectual disability syndrome
- ORPHA:2836PEHO syndrome
- ORPHA:521426PLAA-associated neurodevelopmental disorder
- ORPHA:702Pelizaeus-Merzbacher disease
- ORPHA:97249Pontocerebellar hypoplasia type 3
- ORPHA:97229Riboflavin transporter deficiency
- ORPHA:3157Septo-optic dysplasia spectrum
- ORPHA:3078Severe X-linked intellectual disability, Gustavson type
- ORPHA:391677Short stature-optic atrophy-Pelger-Huët anomaly syndrome
- ORPHA:99015Spastic paraplegia type 2
- ORPHA:99013Spastic paraplegia type 7
- ORPHA:431320Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
- ORPHA:447896Tremor-ataxia-central hypomyelination syndrome
- ORPHA:3463Wolfram syndrome
- ORPHA:411590Wolfram-like syndrome
- ORPHA:99014X-linked Charcot-Marie-Tooth disease type 5
- ORPHA:482606X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
Codes that Orphanet moved or referred to this one:
- ORPHA:98677OBSOLETE: Autosomal recessive syndromic optic atrophy referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/441434
- This record as JSON: /data/d/441434.json