SPG20
MCID: SPS222
MIFTS: 57

Spastic Paraplegia 20, Autosomal Recessive (SPG20)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Spastic Paraplegia 20, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 20, Autosomal Recessive:

Name: Spastic Paraplegia 20, Autosomal Recessive 57 53 25 74
Troyer Syndrome 57 12 75 24 53 25 54 59 74 29 13 55 6 15 40 72
Spg20 57 12 24 53 25 59 74
Spastic Paraparesis, Childhood-Onset, with Distal Muscle Wasting 57 53 25
Spastic Paraplegia, Autosomal Recessive, Troyer Type 57 53 25
Autosomal Recessive Spastic Paraplegia Type 20 12 53 59
Autosomal Recessive Hereditary Spastic Paraplegia 25 72
Cross-Mckusick Syndrome 53 25
Spastic Paraplegia 20 12 53
Childhood-Onset Spastic Paraparesis-Distal Muscle Wasting Syndrome 59
Childhood-Onset Spastic Paraparesis with Distal Muscle Wasting 12
Spastic Paraparesis Childhood-Onset with Distal Muscle Wasting 74
Autosomal Recessive Spastic Paraplegia Troyer Type 12
Spastic Paraplegia Autosomal Recessive Troyer Type 74
Spastic Paraplegia Hereditary Autosomal Recessive 55
Autosomal Recessive Spastic Paraplegia 20 12
Hereditary Spastic Paraplegia 20 12
Spastic Paraplegia, Hereditary 72
Hereditary Spastic Paraplegia 25
Spastic Paraplegia Type 20 12
Trs 74

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic paraplegia type 20
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
genetic heterogeneity, see spg5a () for overview of recessive spgs


HPO:

32
spastic paraplegia 20, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course childhood onset


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050886
MeSH 44 D015419
ICD10 33 G11.4
ICD10 via Orphanet 34 G11.4
UMLS via Orphanet 73 C0393559
Orphanet 59 ORPHA101000
MedGen 42 C0393559
UMLS 72 C0037773 C0393559 C0751603

Summaries for Spastic Paraplegia 20, Autosomal Recessive

Genetics Home Reference : 25 Troyer syndrome is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve the lower limbs. The complex types involve the lower limbs and can also affect the upper limbs to a lesser degree; the structure or functioning of the brain; and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). Troyer syndrome is a complex hereditary spastic paraplegia. People with Troyer syndrome can experience a variety of signs and symptoms. The most common characteristics of Troyer syndrome are spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings. Other characteristics can include exaggerated reflexes (hyperreflexia) in the lower limbs, uncontrollable movements of the limbs (choreoathetosis), skeletal abnormalities, and a bending outward (valgus) of the knees. Troyer syndrome causes the degeneration and death of muscle cells and motor neurons (specialized nerve cells that control muscle movement) throughout a person's lifetime, leading to a slow progressive decline in muscle and nerve function. The severity of impairment related to Troyer syndrome increases as a person ages. Most affected individuals require a wheelchair by the time they are in their fifties or sixties.

MalaCards based summary : Spastic Paraplegia 20, Autosomal Recessive, also known as troyer syndrome, is related to paraplegia and hereditary spastic paraplegia 72, and has symptoms including pain in lower limb, leg cramps and cerebellar signs. An important gene associated with Spastic Paraplegia 20, Autosomal Recessive is SPART (Spartin), and among its related pathways/superpathways are EGF/EGFR Signaling Pathway and SMAD Signaling Network. The drugs Acetylcholine and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and testes, and related phenotypes are hypertelorism and dysphagia

Disease Ontology : 12 A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has material basis in a mutation of the SPG20 gene.

NIH Rare Diseases : 53 Troyer syndrome is a neurological disorder and one of the many types of hereditary spastic paraplegia. Signs and symptoms typically begin in early childhood and may include progressive muscle weakness and stiffness (spasticity) in the legs; muscle wasting in the hands and feet; paraplegia; leg contractures; developmental delays; speech difficulty; mood swings; and short stature. Symptoms worsen over time, with most people needing a wheelchair by their 50s or 60s. Life expectancy is normal. Troyer syndrome is caused by mutations in the SPG20 gene and is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive.

NINDS : 54 Troyer syndrome is one of more than 40 genetically-distinct neurological disorders known collectively as the hereditary spastic paraplegias. These disorders are characterized by their paramount feature of progressive muscle weakness and spasticity in the legs. Additional symptoms of Troyer syndrome (also called SPG20) include leg contractures, difficulty walking, speech disorders, drooling, atrophy of the hand muscles, developmental delays, fluctuating emotions, and short stature. Onset is typically in early childhood, and symptoms gradually worsen over time. Troyer syndrome is an autosomal recessive disorder (meaning that both parents must carry and pass on the defective gene that produces the illness) that results from a mutation in the spastic paraplegia gene (SPGP20) located in chromosome 13 that results in loss of the spartin proteins. The disease was first observed in Amish families in Ohio. Diagnosis is made by specialized genetic testing.

UniProtKB/Swiss-Prot : 74 Spastic paraplegia 20, autosomal recessive: 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. SPG20 is characterized by dysarthria, distal amyotrophy, mild developmental delay and short stature.

Wikipedia : 75 Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive... more...

More information from OMIM: 275900 PS303350
GeneReviews: NBK1382

Related Diseases for Spastic Paraplegia 20, Autosomal Recessive

Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 3, Autosomal Dominant Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 17, Autosomal Dominant Spastic Paraplegia 15, Autosomal Recessive
Spastic Paraplegia 23, Autosomal Recessive Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 20, Autosomal Recessive Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 10, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 13, Autosomal Dominant Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 7, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 25, Autosomal Recessive Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 30, Autosomal Recessive
Spastic Paraplegia 18, Autosomal Recessive Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 36, Autosomal Dominant Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 47, Autosomal Recessive Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 62, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive Spastic Paraplegia 63, Autosomal Recessive
Spastic Paraplegia 73, Autosomal Dominant Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia 75, Autosomal Recessive
Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 77, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive Spastic Paraplegia 80, Autosomal Dominant
Hereditary Spastic Paraplegia 23 Hereditary Spastic Paraplegia 51
Hereditary Spastic Paraplegia 72 Hereditary Spastic Paraplegia
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 Spastic Paraplegia 1
Spastic Paraplegia 10 Spastic Paraplegia 12
Spastic Paraplegia 13 Spastic Paraplegia 14
Spastic Paraplegia 15 Spastic Paraplegia 16
Spastic Paraplegia 17 Spastic Paraplegia 18
Spastic Paraplegia 19 Spastic Paraplegia 24
Spastic Paraplegia 25 Spastic Paraplegia 26
Spastic Paraplegia 29 Spastic Paraplegia 3
Spastic Paraplegia 31 Spastic Paraplegia 32
Spastic Paraplegia 39 Spastic Paraplegia 47
Spastic Paraplegia 51 Spastic Paraplegia 5a
Spastic Paraplegia 5b Spastic Paraplegia 6
Spastic Paraplegia 9 Spastic Paraplegia Type 49
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
Autosomal Recessive Spastic Paraplegia Type 69 Autosomal Recessive Spastic Paraplegia Type 70
Autosomal Recessive Spastic Paraplegia Type 71 Autosomal Recessive Spastic Paraplegia Type 66
Autosomal Recessive Spastic Paraplegia Type 67 Autosomal Dominant Spastic Paraplegia Type 9b

Diseases related to Spastic Paraplegia 20, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 603)
# Related Disease Score Top Affiliating Genes
1 paraplegia 30.3 SPG7 SPART
2 hereditary spastic paraplegia 72 12.8
3 hereditary spastic paraplegia 23 12.8
4 hereditary spastic paraplegia 51 12.7
5 spastic paraplegia 7, autosomal recessive 12.7
6 pure hereditary spastic paraplegia 12.6
7 pure or complex hereditary spastic paraplegia 12.6
8 spastic paraplegia 2, x-linked 12.6
9 ap-4-associated hereditary spastic paraplegia 12.5
10 spastic paraplegia 17, autosomal dominant 12.5
11 masa syndrome 12.5
12 spastic paraplegia 4, autosomal dominant 12.5
13 spastic paraplegia 11, autosomal recessive 12.5
14 spastic paraplegia 3, autosomal dominant 12.4
15 spastic paraplegia 5a, autosomal recessive 12.4
16 spastic paraplegia 11 12.4
17 spastic paraplegia 15, autosomal recessive 12.4
18 spastic paraplegia 31, autosomal dominant 12.4
19 spastic paraplegia 6, autosomal dominant 12.4
20 spastic paraplegia 10, autosomal dominant 12.4
21 spastic paraplegia 8, autosomal dominant 12.4
22 spastic paraplegia 13, autosomal dominant 12.4
23 spastic paraplegia 18, autosomal recessive 12.4
24 spastic paraplegia 56, autosomal recessive 12.4
25 spastic paraplegia 12, autosomal dominant 12.4
26 spastic paraplegia 30, autosomal recessive 12.4
27 spastic paraplegia 46, autosomal recessive 12.4
28 spastic paraplegia 48, autosomal recessive 12.4
29 spastic paraplegia 54, autosomal recessive 12.4
30 mast syndrome 12.4
31 spastic paraplegia 39, autosomal recessive 12.3
32 spastic paraplegia 35, autosomal recessive 12.3
33 spastic paraplegia 9a, autosomal dominant 12.3
34 spastic paraplegia 28, autosomal recessive 12.3
35 spastic paraplegia 42, autosomal dominant 12.3
36 spastic paraplegia 43, autosomal recessive 12.3
37 spastic paraplegia 9b, autosomal recessive 12.3
38 spastic paraplegia 19, autosomal dominant 12.3
39 spastic paraplegia 24, autosomal recessive 12.3
40 spastic paraplegia 29, autosomal dominant 12.3
41 spastic paraplegia 38, autosomal dominant 12.3
42 spastic paraplegia 44, autosomal recessive 12.3
43 spastic paraplegia 14, autosomal recessive 12.3
44 spastic paraplegia 27, autosomal recessive 12.3
45 spastic paraplegia 32, autosomal recessive 12.3
46 spastic paraplegia 37, autosomal dominant 12.3
47 spastic paraplegia 45, autosomal recessive 12.3
48 spastic paraplegia 41, autosomal dominant 12.3
49 spastic paraplegia 55, autosomal recessive 12.3
50 spastic paraplegia 57, autosomal recessive 12.3

Graphical network of the top 20 diseases related to Spastic Paraplegia 20, Autosomal Recessive:



Diseases related to Spastic Paraplegia 20, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 20, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 20, Autosomal Recessive:

59 32 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
3 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
4 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
5 delayed speech and language development 59 32 frequent (33%) Frequent (79-30%) HP:0000750
6 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
7 cognitive impairment 59 32 frequent (33%) Frequent (79-30%) HP:0100543
8 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
9 slurred speech 59 32 frequent (33%) Frequent (79-30%) HP:0001350
10 specific learning disability 59 32 frequent (33%) Frequent (79-30%) HP:0001328
11 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
12 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
13 joint hypermobility 59 32 frequent (33%) Frequent (79-30%) HP:0001382
14 abnormal cerebellum morphology 59 32 frequent (33%) Frequent (79-30%) HP:0001317
15 upper limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003484
16 abnormal hand morphology 59 32 frequent (33%) Frequent (79-30%) HP:0005922
17 dysuria 59 32 frequent (33%) Frequent (79-30%) HP:0100518
18 impaired vibratory sensation 59 32 frequent (33%) Frequent (79-30%) HP:0002495
19 spastic paraparesis 59 32 frequent (33%) Frequent (79-30%) HP:0002313
20 spastic dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0002464
21 overbite 59 32 frequent (33%) Frequent (79-30%) HP:0011094
22 low-set ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000369
23 genu valgum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002857
24 clinodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0030084
25 emotional lability 59 32 occasional (7.5%) Occasional (29-5%) HP:0000712
26 sleep disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0002360
27 hallucinations 59 32 occasional (7.5%) Occasional (29-5%) HP:0000738
28 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
29 abnormal thumb morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001172
30 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
31 anxiety 59 32 occasional (7.5%) Occasional (29-5%) HP:0000739
32 pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001761
33 psychosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000709
34 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
35 hoarse voice 59 32 occasional (7.5%) Occasional (29-5%) HP:0001609
36 distal amyotrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003693
37 ankle clonus 59 32 occasional (7.5%) Occasional (29-5%) HP:0011448
38 spastic gait 59 32 occasional (7.5%) Occasional (29-5%) HP:0002064
39 prominent nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0000448
40 speech apraxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011098
41 abnormality of the nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0005288
42 panic attack 59 32 occasional (7.5%) Occasional (29-5%) HP:0025269
43 hydronephrosis 59 32 very rare (1%) Very rare (<4-1%) HP:0000126
44 dysarthria 59 32 Frequent (79-30%) HP:0001260
45 hyperreflexia 59 32 Frequent (79-30%) HP:0001347
46 spasticity 59 Frequent (79-30%)
47 flexion contracture 32 HP:0001371
48 intellectual disability, mild 32 HP:0001256
49 skeletal muscle atrophy 59 Frequent (79-30%)
50 short foot 32 HP:0001773

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism

Neurologic Central Nervous System:
dysarthria
hyperreflexia
dysmetria
cerebellar atrophy
lower limb spasticity
more
Skeletal Feet:
pes cavus
hammertoes
small feet

Skeletal Limbs:
contractures

Head And Neck Mouth:
tongue dyspraxia

Neurologic Behavioral Psychiatric Manifestations:
emotional lability (variable)

Skeletal Hands:
clinodactyly
brachydactyly
camptodactyly
hyperextensible hand joints

Growth Height:
short stature

Skeletal Spine:
kyphoscoliosis

Head And Neck Face:
overgrowth of the maxilla

Muscle Soft Tissue:
distal amyotrophy, especially of hands and feet

Clinical features from OMIM:

275900

UMLS symptoms related to Spastic Paraplegia 20, Autosomal Recessive:


pain in lower limb, leg cramps, cerebellar signs

MGI Mouse Phenotypes related to Spastic Paraplegia 20, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 8.92 ITCH SLC39A13 SPG7 WWP1

Drugs & Therapeutics for Spastic Paraplegia 20, Autosomal Recessive

Drugs for Spastic Paraplegia 20, Autosomal Recessive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 2, Phase 3 51-84-3 187
2 Cholinergic Agents Phase 2, Phase 3
3 Neurotransmitter Agents Phase 2, Phase 3
4 Acetylcholine Release Inhibitors Phase 2, Phase 3
5 Botulinum Toxins Phase 2, Phase 3
6
Resveratrol Approved, Experimental, Investigational Phase 2 501-36-0 445154
7
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
8
Atorvastatin Approved Phase 2 134523-00-5 60823
9 Analgesics Phase 2
10 Antineoplastic Agents, Phytogenic Phase 2
11 Gastrointestinal Agents Phase 2
12 Cathartics Phase 2
13 Lipid Regulating Agents Phase 2
14 Anti-Inflammatory Agents, Non-Steroidal Phase 2
15 Antioxidants Phase 2
16 Analgesics, Non-Narcotic Phase 2
17 Peripheral Nervous System Agents Phase 2
18 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
19 Protective Agents Phase 2
20 Laxatives Phase 2
21 Hypolipidemic Agents Phase 2
22 Anti-Inflammatory Agents Phase 2
23 Platelet Aggregation Inhibitors Phase 2
24 Anticholesteremic Agents Phase 2
25 Antirheumatic Agents Phase 2
26 Antimetabolites Phase 2
27 Omega 3 Fatty Acid

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Botulinum Toxin in Patients With Hereditary Spastic Paraplegia: a Randomized, Double-blind, Placebo-controlled, Crossover Study Completed NCT02604186 Phase 2, Phase 3
2 Therapeutic Metabolic Intervention in Patients With Spastic Paraplegia SPG5 Completed NCT02314208 Phase 2 Xenbilox;Tahor
3 Design and Validation of a Modular Physiotherapy Concept for the Treatment of Hereditary Spastic Spinal Paralysis (HSP) - a Randomized Study Completed NCT03961906 Phase 2
4 Diagnostic Potential of Hypermethylated DNA in Colorectal Cancer Unknown status NCT02928120
5 A Pilot Study of Repetitive Transcranial Magnetic Stimulation for Improvement of Gait in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy Completed NCT03627416
6 Studying Cognition in SPG4 Compared to Healthy Controls Completed NCT03104088
7 Disease Natural History and Biomarkers of SPG3A, SPG4 and SPG31 Recruiting NCT02859428
8 Phenotype, Genotype & Biomarkers in ALS and Related Disorders Recruiting NCT02327845
9 Studying the Presymptomatic and Early Phase of SPG4 Recruiting NCT03206190
10 Clinical and Molecular Manifestations of Neuromuscular and Neurogenetic Disorders of Childhood Recruiting NCT01568658
11 Studying Non-motor Symptoms in Patients With Hereditary Spastic Paraplegia (HSP) Compared to Healthy Controls Recruiting NCT03204773
12 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
13 A Patient Centric Motor Neuron Disease Activities of Daily Living Scale Enrolling by invitation NCT02852278
14 Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders Not yet recruiting NCT03981276
15 Investigating the Role of SPG20,STK31 Genes in the Carcinogenesis of Colorectal Cancer Not yet recruiting NCT03261752

Search NIH Clinical Center for Spastic Paraplegia 20, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 20, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 20, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Troyer Syndrome 29 SPART

Anatomical Context for Spastic Paraplegia 20, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 20, Autosomal Recessive:

41
Spinal Cord, Brain, Testes, Tongue, Skeletal Muscle, Cerebellum

Publications for Spastic Paraplegia 20, Autosomal Recessive

Articles related to Spastic Paraplegia 20, Autosomal Recessive:

(show all 40)
# Title Authors PMID Year
1
SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. 9 38 4 8 71
12134148 2002
2
Three cases of Troyer syndrome in two families of Filipino descent. 38 4 8 71
27112432 2016
3
Recurrent null mutation in SPG20 leads to Troyer syndrome. 38 4 8 71
26003402 2015
4
Developmental and degenerative features in a complicated spastic paraplegia. 38 4 8 71
20437587 2010
5
Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism? 9 38 8 71
18413476 2008
6
Endogenous spartin (SPG20) is recruited to endosomes and lipid droplets and interacts with the ubiquitin E3 ligases AIP4 and AIP5. 9 38 4
19580544 2009
7
The Troyer syndrome (SPG20) protein spartin interacts with Eps15. 9 38 4
16036216 2005
8
Troyer Syndrome 38 71
20301556 2004
9
Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia. 9 38 4
15372254 2004
10
Familial spastic paraplegia with distal muscle wasting in the Old Order Amish; atypical Troyer syndrome or "new" syndrome. 38 8
1261070 1976
11
The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting. 38 8
6022528 1967
12
SPG20 mutation in three siblings with familial hereditary spastic paraplegia. 38 4
28679690 2017
13
Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency. 38 4
27539578 2017
14
De novo partial deletion in GRID2 presenting with complicated spastic paraplegia. 71
24122788 2014
15
Hereditary Spastic Paraplegia Overview 71
20301682 2000
16
Identification of novel spartin-interactors shows spartin is a multifunctional protein. 9 38
19765186 2009
17
A role for ubiquitin ligases and Spartin/SPG20 in lipid droplet turnover. 9 38
19307600 2009
18
Neuropathy target esterase gene mutations cause motor neuron disease. 9 38
18313024 2008
19
Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking. 9 38
17332501 2007
20
The hereditary spastic paraplegia protein spartin localises to mitochondria. 9 38
16945107 2006
21
Advances in the hereditary spastic paraplegias. 4
14597333 2003
22
The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. 4
12676568 2003
23
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. 4
10610178 1999
24
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism. 38
31314595 2019
25
Novel SPG20 mutation in an extended family with Troyer syndrome. 38
28875386 2017
26
Different expression levels of spartin cause broad spectrum of cellular consequences in human neuroblastoma cells. 38
25821002 2015
27
Oxidative Stress in Caenorhabditis elegans: Protective Effects of Spartin. 38
26114733 2015
28
The role of spartin and its novel ubiquitin binding region in DALIS occurrence. 38
24523286 2014
29
Spartin regulates synaptic growth and neuronal survival by inhibiting BMP-mediated microtubule stabilization. 38
23439121 2013
30
Spg20-/- mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling. 38
22619377 2012
31
SPG20 protein spartin associates with cardiolipin via its plant-related senescence domain and regulates mitochondrial Ca2+ homeostasis. 38
21559443 2011
32
Motor neuron disease due to neuropathy target esterase gene mutation: clinical features of the index families. 38
21171093 2011
33
SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis. 38
20719964 2010
34
Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons. 9
16781711 2006
35
Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. 9
16534102 2006
36
A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. 9
14985266 2004
37
Troyer syndrome: a combination of central brain abnormality and motor neuron disease? 38
10463356 1999
38
Troyer Syndrome: report of the first "non-Amish" sibship and review. 38
7864052 1994
39
[The Troyer syndrome]. 38
8128647 1993
40
Troyer syndrome: a recessively inherited form of spastic paraplegia with distal muscle wasting. 38
5173362 1971

Variations for Spastic Paraplegia 20, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 20, Autosomal Recessive:

6 (show top 50) (show all 70)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SPART NM_001142294.1(SPART): c.1110del (p.Lys370fs) deletion Pathogenic rs1060499524 13:36903553-36903553 13:36329416-36329416
2 SPART NM_001142294.1(SPART): c.364_365del (p.Met122fs) deletion Pathogenic rs775736341 13:36909603-36909604 13:36335466-36335467
3 SPART NM_001142294.1(SPART): c.685C> T (p.Gln229Ter) single nucleotide variant Pathogenic 13:36909283-36909283 13:36335146-36335146
4 SPART NM_001142294.1(SPART): c.627G> A (p.Pro209=) single nucleotide variant Conflicting interpretations of pathogenicity rs370385005 13:36909341-36909341 13:36335204-36335204
5 SPART NM_001142294.1(SPART): c.1155T> G (p.Arg385=) single nucleotide variant Conflicting interpretations of pathogenicity rs140222511 13:36903508-36903508 13:36329371-36329371
6 SPART NM_001142294.1(SPART): c.361G> T (p.Asp121Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs146398746 13:36909607-36909607 13:36335470-36335470
7 SPART NM_001142294.1(SPART): c.360A> G (p.Lys120=) single nucleotide variant Conflicting interpretations of pathogenicity rs149730980 13:36909608-36909608 13:36335471-36335471
8 SPART NM_001142294.1(SPART): c.*2454A> T single nucleotide variant Uncertain significance rs74868982 13:36876048-36876048 13:36301911-36301911
9 SPART NM_001142294.1(SPART): c.*734T> C single nucleotide variant Uncertain significance rs886050135 13:36877768-36877768 13:36303631-36303631
10 SPART NM_001142294.1(SPART): c.*451G> A single nucleotide variant Uncertain significance rs1054149 13:36878051-36878051 13:36303914-36303914
11 SPART NM_001142294.1(SPART): c.1127A> G (p.Asn376Ser) single nucleotide variant Uncertain significance rs368305530 13:36903536-36903536 13:36329399-36329399
12 SPART NM_001142294.1(SPART): c.*1892G> A single nucleotide variant Uncertain significance rs373152101 13:36876610-36876610 13:36302473-36302473
13 SPART NM_001142294.1(SPART): c.*1848A> C single nucleotide variant Uncertain significance rs553638012 13:36876654-36876654 13:36302517-36302517
14 SPART NM_001142294.1(SPART): c.*1550A> G single nucleotide variant Uncertain significance rs886050133 13:36876952-36876952 13:36302815-36302815
15 GRID2 NC_000004.11: g.92981313_93256907del deletion Uncertain significance 4:92981313-93256907 4:92060162-92335756
16 SPART NM_001142294.1(SPART): c.1172A> T (p.Asp391Val) single nucleotide variant Uncertain significance rs148833652 13:36900828-36900828 13:36326691-36326691
17 SPART NM_001142294.1(SPART): c.1309G> T (p.Gly437Cys) single nucleotide variant Uncertain significance rs139819321 13:36888538-36888538 13:36314401-36314401
18 SPART NM_001142294.1(SPART): c.720T> A (p.Ser240Arg) single nucleotide variant Uncertain significance rs780452995 13:36909248-36909248 13:36335111-36335111
19 SPART NM_001142294.1(SPART): c.1172A> G (p.Asp391Gly) single nucleotide variant Uncertain significance rs148833652 13:36900828-36900828 13:36326691-36326691
20 SPART NM_001142294.1(SPART): c.560A> G (p.Tyr187Cys) single nucleotide variant Uncertain significance rs375284717 13:36909408-36909408 13:36335271-36335271
21 SPART NM_001142294.1(SPART): c.1939G> A (p.Val647Met) single nucleotide variant Uncertain significance rs146683642 13:36878564-36878564 13:36304427-36304427
22 SPART NM_001142294.1(SPART): c.68C> A (p.Ala23Asp) single nucleotide variant Uncertain significance rs753340463 13:36909900-36909900 13:36335763-36335763
23 SPART NM_001142294.1(SPART): c.1782G> A (p.Ala594=) single nucleotide variant Uncertain significance rs201110879 13:36878721-36878721 13:36304584-36304584
24 SPART NM_001142294.1(SPART): c.1837G> A (p.Val613Met) single nucleotide variant Uncertain significance rs574448043 13:36878666-36878666 13:36304529-36304529
25 SPART NM_001142294.1(SPART): c.-2-10423C> T single nucleotide variant Uncertain significance rs886050137 13:36920392-36920392 13:36346255-36346255
26 SPART NM_001142294.1(SPART): c.*2299T> C single nucleotide variant Uncertain significance rs564428460 13:36876203-36876203 13:36302066-36302066
27 SPART NM_001142294.1(SPART): c.*2204C> T single nucleotide variant Uncertain significance rs564614485 13:36876298-36876298 13:36302161-36302161
28 SPART NM_001142294.1(SPART): c.*1794A> G single nucleotide variant Uncertain significance rs886050132 13:36876708-36876708 13:36302571-36302571
29 SPART NM_001142294.1(SPART): c.*285del deletion Uncertain significance rs570720520 13:36878217-36878217 13:36304080-36304080
30 SPART NM_001142294.1(SPART): c.1954G> A (p.Asp652Asn) single nucleotide variant Uncertain significance rs143274967 13:36878549-36878549 13:36304412-36304412
31 SPART NM_001142294.1(SPART): c.1414G> T (p.Ala472Ser) single nucleotide variant Uncertain significance rs142482393 13:36888433-36888433 13:36314296-36314296
32 SPART NM_001142294.1(SPART): c.-2-10508C> A single nucleotide variant Uncertain significance rs528288894 13:36920477-36920477 13:36346340-36346340
33 SPART NM_001142294.1(SPART): c.473_474CT[1] (p.Leu159fs) short repeat Uncertain significance 13:36909491-36909493 13:36335356-36335357
34 SPART NM_001142294.1(SPART): c.1909G> A (p.Glu637Lys) single nucleotide variant Uncertain significance 13:36878594-36878594 13:36304457-36304457
35 SPART NM_001142294.1(SPART): c.686A> G (p.Gln229Arg) single nucleotide variant Uncertain significance rs570884857 13:36909282-36909282 13:36335145-36335145
36 SPART NM_001142294.1(SPART): c.1745A> T (p.Asn582Ile) single nucleotide variant Uncertain significance rs139085653 13:36878758-36878758 13:36304621-36304621
37 SPART NM_001142294.1(SPART): c.1470C> T (p.Val490=) single nucleotide variant Uncertain significance rs750472401 13:36888377-36888377 13:36314240-36314240
38 SPART NM_001142294.1(SPART): c.852G> A (p.Pro284=) single nucleotide variant Uncertain significance rs571222120 13:36905692-36905692 13:36331555-36331555
39 SPART NM_015087.4(SPART): c.-247_-246delTG deletion Uncertain significance rs886050138 13:36920605-36920606 13:36346468-36346469
40 SPART NM_015087.4(SPART): c.-261T> G single nucleotide variant Uncertain significance rs886050139 13:36920620-36920620 13:36346483-36346483
41 SPART NM_001142294.1(SPART): c.*2150_*2154del deletion Uncertain significance rs747194340 13:36876348-36876352 13:36302211-36302215
42 SPART NM_001142294.1(SPART): c.*2256G> A single nucleotide variant Uncertain significance rs886050131 13:36876246-36876246 13:36302109-36302109
43 SPART NM_001142294.1(SPART): c.*1456G> A single nucleotide variant Uncertain significance rs562306593 13:36877046-36877046 13:36302909-36302909
44 SPART NM_001142294.1(SPART): c.*1014A> G single nucleotide variant Uncertain significance rs886050134 13:36877488-36877488 13:36303351-36303351
45 SPART NM_001142294.1(SPART): c.*716G> A single nucleotide variant Uncertain significance rs574483995 13:36877786-36877786 13:36303649-36303649
46 SPART NM_001142294.1(SPART): c.*699_*703GTATT[1] short repeat Uncertain significance rs886050136 13:36877794-36877798 13:36303657-36303661
47 SPART NM_001142294.1(SPART): c.*446T> C single nucleotide variant Uncertain significance rs190515727 13:36878056-36878056 13:36303919-36303919
48 SPART NM_001142294.1(SPART): c.1964C> T (p.Thr655Met) single nucleotide variant Uncertain significance rs140800614 13:36878539-36878539 13:36304402-36304402
49 SPART NM_001142294.1(SPART): c.*846G> A single nucleotide variant Likely benign rs1054152 13:36877656-36877656 13:36303519-36303519
50 SPART NM_001142294.1(SPART): c.*817A> T single nucleotide variant Likely benign rs7317988 13:36877685-36877685 13:36303548-36303548

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 20, Autosomal Recessive:

74
# Symbol AA change Variation ID SNP ID
1 SPART p.Met330Val VAR_079569 rs139921339

Expression for Spastic Paraplegia 20, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 20, Autosomal Recessive.

Pathways for Spastic Paraplegia 20, Autosomal Recessive

GO Terms for Spastic Paraplegia 20, Autosomal Recessive

Cellular components related to Spastic Paraplegia 20, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 early endosome membrane GO:0031901 8.62 ITCH EPS15

Biological processes related to Spastic Paraplegia 20, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein polyubiquitination GO:0000209 9.32 WWP1 ITCH
2 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.26 WWP1 ITCH
3 positive regulation of protein catabolic process GO:0045732 9.16 WWP1 ITCH
4 viral process GO:0016032 9.13 WWP1 ITCH EPS15
5 viral entry into host cell GO:0046718 8.8 WWP1 ITCH EPS15

Sources for Spastic Paraplegia 20, Autosomal Recessive

3 CDC
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10 dbSNP
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17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
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