SPOAN
MCID: SPS061
MIFTS: 32

Spastic Paraplegia, Optic Atrophy, and Neuropathy (SPOAN)

Categories: Eye diseases, Genetic diseases, Neuronal 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 58 76 38 30 13 6 45 74
Spoan Syndrome 12 15
Spoan 58 76
Spastic Paraplegia, Optic Atropy, and Neuropathy Syndrome 12
Spastic Paraplegia, Optic Atropy, and Neuropathy 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
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 : 76 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 syndrome, 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 optic atrophy and multiple joint contractures

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 : 58 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 10.5
2 paraplegia 10.5
3 neuropathy 10.5

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

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

33 (show all 26)
# Description HPO Frequency HPO Source Accession
1 optic atrophy 33 hallmark (90%) HP:0000648
2 multiple joint contractures 33 hallmark (90%) HP:0002828
3 hyperhidrosis 33 frequent (33%) HP:0000975
4 dysarthria 33 frequent (33%) HP:0001260
5 scoliosis 33 frequent (33%) HP:0002650
6 pes cavus 33 frequent (33%) HP:0001761
7 exaggerated startle response 33 frequent (33%) HP:0002267
8 difficulty walking 33 frequent (33%) HP:0002355
9 optic disc pallor 33 frequent (33%) HP:0000543
10 impaired vibration sensation in the lower limbs 33 frequent (33%) HP:0002166
11 progressive spastic paraplegia 33 frequent (33%) HP:0007020
12 delayed gross motor development 33 frequent (33%) HP:0002194
13 peripheral axonal neuropathy 33 frequent (33%) HP:0003477
14 distal lower limb amyotrophy 33 frequent (33%) HP:0008944
15 decreased number of peripheral myelinated nerve fibers 33 frequent (33%) HP:0003380
16 hyporeflexia of lower limbs 33 frequent (33%) HP:0002600
17 hyperreflexia proximally 33 frequent (33%) HP:0007054
18 nystagmus 33 occasional (7.5%) HP:0000639
19 kyphosis 33 HP:0002808
20 flexion contracture 33 HP:0001371
21 sensory axonal neuropathy 33 HP:0003390
22 motor delay 33 HP:0001270
23 hyporeflexia 33 HP:0001265
24 spastic paraplegia 33 HP:0001258
25 distal amyotrophy 33 HP:0003693
26 motor axonal neuropathy 33 HP:0007002

Symptoms via clinical synopsis from OMIM:

58
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

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 30 KLC2

Anatomical Context for Spastic Paraplegia, Optic Atrophy, and Neuropathy

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

42
Eye

Publications for Spastic Paraplegia, Optic Atrophy, and Neuropathy

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

# Title Authors Year
1
Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome. ( 26385635 )
2015
2
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. ( 24482476 )
2014
3
Nerve conduction studies in spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome. ( 24123118 )
2014
4
Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN). ( 20339643 )
2010
5
Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes. ( 19344448 )
2009
6
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 NM_001134775.1(KLC2): c.-451_-235del deletion Pathogenic rs1554996989 GRCh38 Chromosome 11, 66257086: 66257302
2 KLC2 NM_001134775.1(KLC2): c.-451_-235del deletion Pathogenic rs1554996989 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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