Spastic paraplegia-optic atrophy-neuropathy syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: SPOAN
Number of Symptoms 23
OrphanetNr: 320406
OMIM Id: 609541
ICD-10: G11.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive syndromic optic atrophy
 -Rare eye disease
 -Rare genetic disease
Hereditary motor and sensory neuropathy
 -Rare genetic disease
 -Rare neurologic disease
Pure or complex autosomal recessive spastic paraplegia
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000648) Optic atrophy 238 / 7739
2
 (HPO:0000543) Optic disc pallor 67 / 7739
3
 (HPO:0001258) Spastic paraplegia 97 / 7739
4
 (HPO:0007054) Hyperreflexia proximally 1 / 7739
5
 (HPO:0001265) Hyporeflexia 208 / 7739
6
 (HPO:0002267) Exaggerated startle response 42 / 7739
7
 (HPO:0003390) Sensory axonal neuropathy 26 / 7739
8
 (HPO:0007002) Motor axonal neuropathy 17 / 7739
9
 (HPO:0001270) Motor delay 322 / 7739
10
 (HPO:0001260) Dysarthria 329 / 7739
11
 (HPO:0001371) Flexion contracture 220 / 7739
12
 (HPO:0002808) Kyphosis 289 / 7739
13
 (HPO:0002650) Scoliosis 705 / 7739
14
 (HPO:0001761) Pes cavus 225 / 7739
15
 (HPO:0000975) Hyperhidrosis 64 / 7739
16
 (HPO:0003693) Distal amyotrophy 118 / 7739
17
 (OMIM) Loss of independent ambulation by age 10 years 1 / 7739
18
 (OMIM) Distal sensory and motor axonal neuropathy (onset in late-childhood/adolescence) 1 / 7739
19
 (OMIM) Optic atrophy, congenital 1 / 7739
20
 (OMIM) Fixation nystagmus 1 / 7739
21
 (OMIM) Hyporeflexia/areflexia distally 1 / 7739
22
 (OMIM) Nerve biopsy shows loss of myelinated and unmyelinated fibers 1 / 7739
23
 (OMIM) Impaired distal sensation for tactile, proprioceptive, and vibratory senses 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Macedo-Souza et al. (2005) reported a large consanguineous Brazilian family in which 25 members were affected with a neurologic disorder characterized by congenital optic atrophy, early-onset progressive spastic paraplegia, and distal axonal motor and sensory peripheral neuropathy (SPOAN). ...