MCID: SPS061
MIFTS: 34

Spastic Paraplegia, Optic Atrophy, and Neuropathy

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Rare diseases

Aliases & Classifications for Spastic Paraplegia, Optic Atrophy, and Neuropathy

MalaCards integrated aliases for Spastic Paraplegia, Optic Atrophy, and Neuropathy:

Name: Spastic Paraplegia, Optic Atrophy, and Neuropathy 57 75 29 13 6 44 73
Spoan 57 59 75
Spoan Syndrome 12 15
Spastic Paraplegia, Optic Atropy, and Neuropathy Syndrome 12
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome 59
Spastic Paraplegia, Optic Atropy, and Neuropathy 12

Characteristics:

Orphanet epidemiological data:

59
spastic paraplegia-optic atrophy-neuropathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset of spastic paraplegia in first year of life
high frequency in northeastern brazil


HPO:

32
spastic paraplegia, optic atrophy, and neuropathy:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spastic Paraplegia, Optic Atrophy, and Neuropathy

UniProtKB/Swiss-Prot : 75 Spastic paraplegia, optic atrophy, and neuropathy: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPOAN is characterized by spastic paraplegia with progressive joint contractures and spine deformities, loss of independent ambulation by age 10 years, sub-normal vision secondary to congenital optic atrophy, and neuropathy. Inheritance is autosomal recessive.

MalaCards based summary : Spastic Paraplegia, Optic Atrophy, and Neuropathy, also known as spoan, is related to 3-methylglutaconic aciduria, type iii and paraplegia. An important gene associated with Spastic Paraplegia, Optic Atrophy, and Neuropathy is KLC2 (Kinesin Light Chain 2), and among its related pathways/superpathways are Golgi-to-ER retrograde transport and Factors involved in megakaryocyte development and platelet production. Affiliated tissues include eye, and related phenotypes are hyperhidrosis and dysarthria

Disease Ontology : 12 A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy. It has material basis in homozygous mutation in the KLC2 gene on chromosome 11q13.2.

OMIM : 57 Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive spastic paraplegia resulting in loss of independent ambulation in the teenage years. Additional features include optic atrophy, later onset of sensorimotor peripheral neuropathy, and progressive joint contractures; cognition remains intact (summary by Melo et al., 2015). (609541)

Related Diseases for Spastic Paraplegia, Optic Atrophy, and Neuropathy

Diseases related to Spastic Paraplegia, Optic Atrophy, and Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type iii 10.4
2 paraplegia 10.4
3 neuropathy 10.4
4 spasticity 10.4

Symptoms & Phenotypes for Spastic Paraplegia, Optic Atrophy, and Neuropathy

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
hyperhidrosis

Skeletal Feet:
pes cavus

Muscle Soft Tissue:
distal amyotrophy

Head And Neck Eyes:
pale optic disks
optic atrophy, congenital
fixation nystagmus

Skeletal Spine:
scoliosis
kyphosis

Neurologic Central Nervous System:
spastic paraplegia
delayed motor development
loss of independent ambulation by age 10 years
hyperreflexia proximally
dysarthria (onset in third decade)
more
Skeletal:
joint contractures

Neurologic Peripheral Nervous System:
distal sensory and motor axonal neuropathy (onset in late-childhood/adolescence)
impaired distal sensation for tactile, proprioceptive, and vibratory senses
hyporeflexia/areflexia distally
nerve biopsy shows loss of myelinated and unmyelinated fibers


Clinical features from OMIM:

609541

Human phenotypes related to Spastic Paraplegia, Optic Atrophy, and Neuropathy:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 32 HP:0000975
2 dysarthria 32 HP:0001260
3 scoliosis 32 HP:0002650
4 kyphosis 32 HP:0002808
5 optic atrophy 32 HP:0000648
6 flexion contracture 32 HP:0001371
7 pes cavus 32 HP:0001761
8 sensory axonal neuropathy 32 HP:0003390
9 hyporeflexia 32 HP:0001265
10 spastic paraplegia 32 HP:0001258
11 motor delay 32 HP:0001270
12 optic disc pallor 32 HP:0000543
13 distal amyotrophy 32 HP:0003693
14 exaggerated startle response 32 HP:0002267
15 motor axonal neuropathy 32 HP:0007002
16 hyperreflexia proximally 32 HP:0007054

Drugs & Therapeutics for Spastic Paraplegia, Optic Atrophy, and Neuropathy

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia, Optic Atrophy, and Neuropathy

Cochrane evidence based reviews: spastic paraplegia, optic atrophy, and neuropathy

Genetic Tests for Spastic Paraplegia, Optic Atrophy, and Neuropathy

Genetic tests related to Spastic Paraplegia, Optic Atrophy, and Neuropathy:

# Genetic test Affiliating Genes
1 Spastic Paraplegia, Optic Atrophy, and Neuropathy 29 KLC2

Anatomical Context for Spastic Paraplegia, Optic Atrophy, and Neuropathy

MalaCards organs/tissues related to Spastic Paraplegia, Optic Atrophy, and Neuropathy:

41
Eye

Publications for Spastic Paraplegia, Optic Atrophy, and Neuropathy

Articles related to Spastic Paraplegia, Optic Atrophy, and Neuropathy:

# Title Authors Year
1
Nerve conduction studies in spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome. ( 24123118 )
2014
2
Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN). ( 20339643 )
2010
3
Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes. ( 19344448 )
2009
4
Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13. ( 15852396 )
2005

Variations for Spastic Paraplegia, Optic Atrophy, and Neuropathy

ClinVar genetic disease variations for Spastic Paraplegia, Optic Atrophy, and Neuropathy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KLC2 NC_000011.10: g.66257086_66257302del deletion Pathogenic GRCh38 Chromosome 11, 66257086: 66257302
2 KLC2 NC_000011.10: g.66257086_66257302del deletion Pathogenic GRCh37 Chromosome 11, 66024557: 66024773

Expression for Spastic Paraplegia, Optic Atrophy, and Neuropathy

Search GEO for disease gene expression data for Spastic Paraplegia, Optic Atrophy, and Neuropathy.

Pathways for Spastic Paraplegia, Optic Atrophy, and Neuropathy

Pathways related to Spastic Paraplegia, Optic Atrophy, and Neuropathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.94 KLC2 KLC3
2 11.45 KLC2 KLC3
3 11.17 KLC2 KLC3
4 10.89 KLC2 KLC3
5 9.66 KLC2 KLC3

GO Terms for Spastic Paraplegia, Optic Atrophy, and Neuropathy

Cellular components related to Spastic Paraplegia, Optic Atrophy, and Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule GO:0005874 8.96 KLC2 KLC3
2 kinesin complex GO:0005871 8.62 KLC2 KLC3

Molecular functions related to Spastic Paraplegia, Optic Atrophy, and Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule motor activity GO:0003777 8.96 KLC2 KLC3
2 kinesin binding GO:0019894 8.62 KLC2 KLC3

Sources for Spastic Paraplegia, Optic Atrophy, and Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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