SPOAN
MCID: SPS061
MIFTS: 35

Spastic Paraplegia, Optic Atrophy, and Neuropathy (SPOAN)

Categories: Eye diseases, Genetic diseases, Neuronal 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 72 36 29 13 6 44 70
Spoan 57 58 72
Spoan Syndrome 12 15
Spastic Paraplegia, Optic Atropy, and Neuropathy Syndrome 12
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome 58
Spastic Paraplegia, Optic Atropy, and Neuropathy 12

Characteristics:

Orphanet epidemiological data:

58
spastic paraplegia-optic atrophy-neuropathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
spastic paraplegia, optic atrophy, and neuropathy:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Spastic Paraplegia, Optic Atrophy, and Neuropathy

UniProtKB/Swiss-Prot : 72 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 neuropathy 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 is RHO GTPases activate KTN1. 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 and that 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) (Updated 20-May-2021)

KEGG : 36 Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive neurodegenerative disorder clinically defined by congenital optic atrophy, progressive spastic paraplegia with onset in infancy, and progressive motor and sensory axonal neuropathy. A mutation in KLC2 gene has been reported to be responsible for the SPOAN phenotype.

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:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 neuropathy 29.9 SPOAN PNPLA6 KLC2 CCT5 ATL1
2 paraplegia 28.7 WASHC5 VPS37A PNPLA6 KLC2 CCT5 ATL1
3 hereditary spastic paraplegia 27.5 WASHC5 VPS37A PNPLA6 PCYT2 KLC2 FLRT1
4 spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder 11.1
5 3-methylglutaconic aciduria, type iii 10.5
6 optic atrophy 2 10.4
7 polyneuropathy 10.4
8 axonal neuropathy 10.4
9 peripheral nervous system disease 10.2
10 spasticity 10.2
11 spastic paraplegia 32, autosomal recessive 10.0 WASHC5 AP4S1
12 hereditary spastic paraplegia 51 10.0 AP5Z1 AP4S1
13 spastic paraplegia 52, autosomal recessive 10.0 AP5Z1 AP4S1
14 spastic paraplegia 18, autosomal recessive 10.0 WASHC5 AP5Z1
15 spastic paraplegia 50, autosomal recessive 10.0 AP5Z1 AP4S1
16 hereditary spastic paraplegia 72 10.0 ATL1 AP5Z1
17 spastic paraplegia 61, autosomal recessive 9.9 ATL1 AP5Z1
18 spastic paraplegia 7, autosomal recessive 9.9
19 autosomal recessive disease 9.9
20 nescav syndrome 9.8 VPS37A AP5Z1 AP4S1
21 spastic paraplegia 47, autosomal recessive 9.8 WASHC5 AP5Z1 AP4S1
22 spastic paraplegia 13, autosomal dominant 9.8 ATL1 AP5Z1
23 hereditary spastic paraplegia 30 9.8 WASHC5 ATL1 AP5Z1
24 spastic paraplegia 33, autosomal dominant 9.8 WASHC5 ATL1 AP5Z1
25 spastic paraplegia 48, autosomal recessive 9.8 WASHC5 ATL1 AP5Z1
26 spastic paraplegia 12, autosomal dominant 9.8 WASHC5 ATL1 AP5Z1
27 spastic paraplegia 6, autosomal dominant 9.8 WASHC5 ATL1 AP5Z1
28 spastic paraplegia 31, autosomal dominant 9.8 WASHC5 ATL1 AP5Z1
29 spastic paraplegia 15, autosomal recessive 9.8 WASHC5 ATL1 AP5Z1
30 spastic paraplegia 8, autosomal dominant 9.8 WASHC5 ATL1 AP5Z1
31 spastic paraplegia 10, autosomal dominant 9.8 WASHC5 ATL1 AP5Z1
32 spastic paraplegia 4, autosomal dominant 9.8 WASHC5 ATL1 AP5Z1
33 masa syndrome 9.7 WASHC5 ATL1 AP5Z1
34 spastic paraplegia 17, autosomal dominant 9.7 WASHC5 ATL1 AP5Z1
35 spastic paraplegia 2, x-linked 9.7 WASHC5 ATL1 AP5Z1
36 spastic paraplegia 73, autosomal dominant 9.7 PNPLA6 ATL1
37 spastic paraplegia 28, autosomal recessive 9.7 PNPLA6 AP5Z1
38 spastic paraplegia 54, autosomal recessive 9.7 PNPLA6 AP5Z1
39 spastic paraplegia 3, autosomal dominant 9.7 WASHC5 ATL1
40 spastic paraplegia 46, autosomal recessive 9.7 PNPLA6 AP5Z1
41 spastic paraplegia 43, autosomal recessive 9.6 VPS37A PNPLA6 ATL1
42 spastic paraplegia 35, autosomal recessive 9.6 WASHC5 PNPLA6 AP5Z1
43 spastic paraplegia 20, autosomal recessive 9.6 PNPLA6 ATL1
44 spastic paraplegia 56, autosomal recessive 9.6 PNPLA6 AP5Z1 AP4S1
45 spastic paraplegia 39, autosomal recessive 9.3 WASHC5 PNPLA6 ATL1 AP5Z1
46 spastic paraplegia 53, autosomal recessive 9.3 WASHC5 VPS37A ATL1 AP5Z1 AP4S1
47 spastic paraplegia 42, autosomal dominant 9.1 WASHC5 VPS37A PNPLA6 ATL1 AP5Z1

Graphical network of the top 20 diseases related to Spastic Paraplegia, Optic Atrophy, and Neuropathy:



Diseases related to Spastic Paraplegia, Optic Atrophy, and Neuropathy

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

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

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
2 multiple joint contractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002828
3 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
4 hyperhidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000975
5 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
6 pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0001761
7 optic disc pallor 58 31 frequent (33%) Frequent (79-30%) HP:0000543
8 delayed gross motor development 58 31 frequent (33%) Frequent (79-30%) HP:0002194
9 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
10 peripheral axonal neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0003477
11 distal lower limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008944
12 progressive spastic paraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0007020
13 exaggerated startle response 58 31 frequent (33%) Frequent (79-30%) HP:0002267
14 decreased number of peripheral myelinated nerve fibers 58 31 frequent (33%) Frequent (79-30%) HP:0003380
15 hyporeflexia of lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0002600
16 impaired vibration sensation in the lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0002166
17 hyperreflexia proximally 58 31 frequent (33%) Frequent (79-30%) HP:0007054
18 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
19 distal amyotrophy 58 31 Very frequent (99-80%) HP:0003693
20 kyphosis 31 HP:0002808
21 flexion contracture 31 HP:0001371
22 motor delay 31 HP:0001270
23 abnormality of extrapyramidal motor function 58 Occasional (29-5%)
24 hyporeflexia 31 HP:0001265
25 spastic paraplegia 31 HP:0001258
26 motor axonal neuropathy 31 HP:0007002
27 sensory axonal neuropathy 31 HP:0003390

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis
kyphosis

Skeletal Feet:
pes cavus

Muscle Soft Tissue:
distal amyotrophy

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

Skin Nails Hair Skin:
hyperhidrosis

Neurologic Central Nervous System:
spastic paraplegia
hyperreflexia proximally
delayed motor development
loss of independent ambulation by age 10 years
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 (Updated 20-May-2021)

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:

40
Eye

Publications for Spastic Paraplegia, Optic Atrophy, and Neuropathy

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

(show all 14)
# Title Authors PMID Year
1
Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome. 61 6 57
26385635 2015
2
Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes. 57 61
19344448 2009
3
Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13. 61 57
15852396 2005
4
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 6
24482476 2014
5
SPOAN syndrome: a novel mutation and new ocular findings; a case report. 61
33451298 2021
6
Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia. 61
31865189 2020
7
Motor impairment in a rare form of spastic paraplegia (Spoan syndrome): a 10-year follow-up. 61
31656170 2019
8
TFG-Related Neurologic Disorders: New Insights Into Relationships Between Endoplasmic Reticulum and Neurodegeneration. 61
26945032 2016
9
Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia. 61
25609768 2015
10
[The causes of physical disability in municipalities of the northeast of Brazil and an estimate of costs of specialized services]. 61
24863832 2014
11
Nerve conduction studies in spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome. 61
24123118 2014
12
Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure. 61
23479643 2013
13
Inbreeding levels in Northeast Brazil: Strategies for the prospecting of new genetic disorders. 61
21637472 2010
14
Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN). 61
20339643 2010

Variations for Spastic Paraplegia, Optic Atrophy, and Neuropathy

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KLC2 NM_001134775.1(KLC2):c.-451_-235del Deletion Pathogenic 222029 rs1554996989 GRCh37: 11:66024557-66024773
GRCh38: 11:66257086-66257302
2 KLC2-AS1 , KLC2 NM_001318734.2(KLC2):c.459+2_459+5dup Duplication Pathogenic 1034013 GRCh37: 11:66029443-66029444
GRCh38: 11:66261972-66261973
3 KLC2 NM_001318734.2(KLC2):c.1526G>A (p.Arg509Gln) SNV Uncertain significance 1028782 GRCh37: 11:66033407-66033407
GRCh38: 11:66265936-66265936

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 9.66 KLC3 KLC2

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 kinesin complex GO:0005871 8.62 KLC3 KLC2

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

# Name GO ID Score Top Affiliating Genes
1 endosomal transport GO:0016197 8.8 WASHC5 VPS37A AP5Z1

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

# Name GO ID Score Top Affiliating Genes
1 kinesin binding GO:0019894 8.62 KLC3 KLC2

Sources for Spastic Paraplegia, Optic Atrophy, and Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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