| Disease Browser
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Parent Node:
 Hereditary Sensory and Motor Neuropathy (D015417) | Parent Node:
Optic Atrophy (D009896) | Parent Node:
Paraplegia (D010264) | ..Starting node
.. Spastic Paraplegia, Optic Atrophy, and Neuropathy (C563702)
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Child Nodes:
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Sister Nodes: | ..Brown-Sequard Syndrome (D018437)
| ..Fryns Macrocephaly (C563963)
| ..Mental Retardation with Spastic Paraplegia (C564099)
| ..Optic Atrophy Spastic Paraplegia Syndrome (C564084)
| ..Spastic Paraplegia 24, Autosomal Recessive (C564375)
| ..Spastic Paraplegia 28, Autosomal Recessive (C563732)
| ..Spastic Paraplegia 30, Autosomal Recessive (C563677)
| ..Spastic Paraplegia Type 11 (C580453)
| ..Spastic Paraplegia Type 3a (C580455)
| ..Spastic Paraplegia Type 4 (C580456)
| ..Spastic Paraplegia Type 7 (C580457)
| ..Spastic Paraplegia Type 8 (C580458)
| ..Spastic Paraplegia, Ataxia, And Mental Retardation (C564378)
| ..Spastic Paraplegia, Optic Atrophy, and Neuropathy (C563702)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 10408 |
| Name: | Spastic Paraplegia, Optic Atrophy, and Neuropathy |
| Definition: | |
| Alternative IDs: | OMIM:609541 |
| ParentIDs: | MESH:D009896|MESH:D010264|MESH:D015417 |
| TreeNumbers: | C10.292.700.225/C563702 |C10.500.300/C563702 |C10.574.500.495/C563702 |C10.597.622.669/C563702 |C10.668.829.800.300/C563702 |C11.640.451/C563702 |C16.131.666.300/C563702 |C16.320.400.375/C563702 |C23.888.592.636.637/C563702 |
| Synonyms: | SPOAN |
| Slim Mappings: | Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms |
| Reference: |
MedGen: C563702
MeSH: C563702
OMIM: 609541;
Genes: | | Phenotypes | | | Disease Causing ClinVar Variants | | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | | NC_000011.10:g.66257086_66257302del | 64837 | KLC2 | Pathogenic | -1 | RCV000207491; | N | Gene:619394,MedGen:C1836010,OMIM:609541,ORPHA:320406 | 11 | 66024557 | 66024773 | - | - | | OMIM Allelic Variant:611729.0001 | C1836010 609541 Spastic paraplegia, optic atrophy, and neuropathy | | |
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