SPG20
MCID: SPS222
MIFTS: 56

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 56 52 25 73
Troyer Syndrome 56 12 74 24 52 25 53 58 73 29 13 54 6 15 39 71
Spg20 56 12 24 52 25 58 73
Spastic Paraparesis, Childhood-Onset, with Distal Muscle Wasting 56 52 25
Spastic Paraplegia, Autosomal Recessive, Troyer Type 56 52 25
Autosomal Recessive Spastic Paraplegia Type 20 12 52 58
Autosomal Recessive Hereditary Spastic Paraplegia 25 71
Cross-Mckusick Syndrome 52 25
Spastic Paraplegia 20 12 52
Childhood-Onset Spastic Paraparesis-Distal Muscle Wasting Syndrome 58
Childhood-Onset Spastic Paraparesis with Distal Muscle Wasting 12
Spastic Paraparesis Childhood-Onset with Distal Muscle Wasting 73
Autosomal Recessive Spastic Paraplegia Troyer Type 12
Spastic Paraplegia Autosomal Recessive Troyer Type 73
Spastic Paraplegia Hereditary Autosomal Recessive 54
Autosomal Recessive Spastic Paraplegia 20 12
Hereditary Spastic Paraplegia 20 12
Spastic Paraplegia, Hereditary 71
Hereditary Spastic Paraplegia 25
Spastic Paraplegia Type 20 12
Trs 73

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic paraplegia type 20
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
spastic paraplegia 20, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course childhood onset


Classifications:

Orphanet: 58  
Rare neurological diseases


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 spastic paraplegia 41, autosomal dominant and pure hereditary spastic paraplegia, 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 is Endocytosis. The drugs Acetylcholine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and thyroid, 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 : 52 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 : 53 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 : 73 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 : 74 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 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 32
Spastic Paraplegia 39 Spastic Paraplegia 47
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 611)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 41, autosomal dominant 34.1 SPG21 SPAST
2 pure hereditary spastic paraplegia 34.1 SPAST NIPA1 ATL1
3 spastic paraplegia 34, x-linked 33.9 ZFYVE26 SPG21
4 spastic paraplegia 29, autosomal dominant 33.9 ZFYVE26 SPG21
5 spastic paraplegia 61, autosomal recessive 33.9 SPG21 SPAST ATL1
6 hereditary spastic paraplegia 23 33.9 ZFYVE26 SPG21 SPG11 SPART
7 spastic paraplegia 37, autosomal dominant 33.9 ZFYVE26 SPG21
8 spastic paraplegia 25, autosomal recessive 33.9 ZFYVE26 SPG21
9 spastic paraplegia 24, autosomal recessive 33.8 SPG7 SPG21
10 spastic paraplegia 19, autosomal dominant 33.8 ZFYVE26 SPG21 BSCL2
11 spastic paraplegia 44, autosomal recessive 33.8 ZFYVE26 SPG21
12 hereditary spastic paraplegia 51 33.7 ZFYVE26 SPG11 NIPA1
13 spastic paraplegia 28, autosomal recessive 33.7 SPG7 SPG11
14 spastic paraplegia 54, autosomal recessive 33.6 SPG7 SPG21 SPG11
15 spastic paraplegia 64, autosomal recessive 33.6 SPG7 SPG21 SPG11
16 mast syndrome 33.6 SPG21 SPG11 SPART
17 spastic paraplegia 63, autosomal recessive 33.5 SPG21 SPG11
18 spastic paraplegia 77, autosomal recessive 33.5 ZFYVE26 SPG11
19 spastic paraplegia 56, autosomal recessive 33.5 SPG21 SPG11
20 spastic paraplegia 13, autosomal dominant 33.5 SPG7 SPAST NIPA1 ATL1
21 spastic paraplegia 49, autosomal recessive 33.4 ZFYVE26 SPG21 SPG11
22 spastic paraplegia 43, autosomal recessive 33.4 ZFYVE26 SPG11 SPAST
23 spastic paraplegia 55, autosomal recessive 33.4 ZFYVE26 SPG21 SPG11
24 spastic paraplegia 11, autosomal recessive 33.4 ZFYVE26 SPG7 SPG21 SPG11
25 spastic paraplegia 35, autosomal recessive 33.2 ZFYVE26 SPG7 SPG21 SPG11
26 spastic paraplegia 32, autosomal recessive 33.2 ZFYVE26 SPG7 SPG21 SPG11
27 spastic paraplegia 14, autosomal recessive 33.2 ZFYVE26 SPG21 SPG11 SPAST
28 spastic paraplegia 16, x-linked 33.2 ZFYVE26 SPG21 SPG11 SPAST
29 spastic paraplegia 52, autosomal recessive 33.2 ZFYVE26 SPG21 SPG11
30 spastic paraplegia 47, autosomal recessive 33.2 ZFYVE26 SPG21 SPG11
31 spastic paraplegia 76, autosomal recessive 33.2 SPG7 PNPLA6
32 hereditary spastic paraplegia 72 33.1 ZFYVE26 SPG21 SPG11 SPAST NIPA1 ATL1
33 spastic paraplegia 5a, autosomal recessive 33.1 ZFYVE26 SPG7 SPG11 SPAST PNPLA6
34 spastic paraplegia 2, x-linked 33.1 ZFYVE26 SPG7 SPG21 SPG11 SPAST ATL1
35 spastic paraplegia 12, autosomal dominant 33.0 ZFYVE26 SPG21 SPG11 SPAST ATL1
36 spastic paraplegia 46, autosomal recessive 33.0 ZFYVE26 SPG7 SPG21 SPG11 PNPLA6
37 spastic paraplegia 48, autosomal recessive 33.0 ZFYVE26 SPG21 SPG11 SPAST ATL1
38 spastic paraplegia 50, autosomal recessive 32.9 ZFYVE26 SPG11 NIPA1
39 spastic paraplegia 30, autosomal recessive 32.9 SPG21 SPG11 SPAST NIPA1 ATL1
40 spastic paraplegia 3, autosomal dominant 32.8 ZFYVE26 SPG11 SPAST NIPA1 ATL1
41 spastic paraplegia 18, autosomal recessive 32.8 ZFYVE26 SPG7 SPG21 SPG11 NIPA1
42 spastic paraplegia 39, autosomal recessive 32.8 ZFYVE26 SPG21 SPG11 SPAST SPART PNPLA6
43 spastic paraplegia 8, autosomal dominant 32.3 ZFYVE26 SPG21 SPG11 SPAST SPART NIPA1
44 spastic paraplegia 31, autosomal dominant 32.2 ZFYVE26 SPG7 SPG21 SPG11 SPAST NIPA1
45 spastic paraplegia 42, autosomal dominant 32.2 ZFYVE26 SPG11 SPAST SPART PNPLA6 NIPA1
46 spastic paraplegia 17, autosomal dominant 32.2 ZFYVE26 SPG21 SPG11 SPAST SPART NIPA1
47 spastic paraplegia 15, autosomal recessive 32.1 ZFYVE26 SPG7 SPG21 SPG11 SPAST SPART
48 spastic paraplegia 6, autosomal dominant 32.0 ZFYVE26 SPG21 SPG11 SPAST SPART NIPA1
49 masa syndrome 32.0 ZFYVE26 SPG7 SPG21 SPG11 SPAST SPART
50 spastic paraplegia 4, autosomal dominant 31.9 ZFYVE26 SPG7 SPG21 SPG11 SPAST SPART

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:

58 31 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
2 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
3 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
4 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
5 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
6 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
7 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
8 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
9 slurred speech 58 31 frequent (33%) Frequent (79-30%) HP:0001350
10 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
11 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
12 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
13 joint hypermobility 58 31 frequent (33%) Frequent (79-30%) HP:0001382
14 abnormal cerebellum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001317
15 upper limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003484
16 abnormal hand morphology 58 31 frequent (33%) Frequent (79-30%) HP:0005922
17 dysuria 58 31 frequent (33%) Frequent (79-30%) HP:0100518
18 spastic paraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0002313
19 impaired vibratory sensation 58 31 frequent (33%) Frequent (79-30%) HP:0002495
20 spastic dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0002464
21 overbite 58 31 frequent (33%) Frequent (79-30%) HP:0011094
22 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
23 genu valgum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002857
24 clinodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0030084
25 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
26 emotional lability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000712
27 hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0000738
28 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
29 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
30 abnormal thumb morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001172
31 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
32 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
33 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
34 psychosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000709
35 hoarse voice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001609
36 speech apraxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011098
37 distal amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003693
38 ankle clonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0011448
39 spastic gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002064
40 prominent nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000448
41 abnormality of the nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0005288
42 panic attack 58 31 occasional (7.5%) Occasional (29-5%) HP:0025269
43 hydronephrosis 58 31 very rare (1%) Very rare (<4-1%) HP:0000126
44 hyperreflexia 58 31 Frequent (79-30%) HP:0001347
45 dysarthria 58 31 Frequent (79-30%) HP:0001260
46 spasticity 58 Frequent (79-30%)
47 brachydactyly 31 HP:0001156
48 flexion contracture 31 HP:0001371
49 intellectual disability, mild 31 HP:0001256
50 skeletal muscle atrophy 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism

Neurologic Central Nervous System:
hyperreflexia
dysarthria
dysmetria
drooling
cerebellar atrophy
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

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 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 2, Phase 3 51-84-3 187
2 Neurotransmitter Agents Phase 2, Phase 3
3 Acetylcholine Release Inhibitors Phase 2, Phase 3
4 Botulinum Toxins Phase 2, Phase 3
5 Cholinergic Agents Phase 2, Phase 3
6
Atorvastatin Approved Phase 2 134523-00-5 60823
7
Resveratrol Approved, Experimental, Investigational Phase 2 501-36-0 445154
8
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
9
Evolocumab Approved Phase 1, Phase 2 1256937-27-5
10 Cathartics Phase 2
11 Anti-Inflammatory Agents Phase 2
12 Gastrointestinal Agents Phase 2
13 Anti-Inflammatory Agents, Non-Steroidal Phase 2
14 Antioxidants Phase 2
15 Platelet Aggregation Inhibitors Phase 2
16 Analgesics, Non-Narcotic Phase 2
17 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
18 Laxatives Phase 2
19 Antirheumatic Agents Phase 2
20 Protective Agents Phase 2
21 Analgesics Phase 2
22 Hypolipidemic Agents Phase 1, Phase 2
23 Anticholesteremic Agents Phase 1, Phase 2
24 Lipid Regulating Agents Phase 1, Phase 2
25 Antimetabolites Phase 1, Phase 2
26 Antibodies, Monoclonal Phase 1, Phase 2
27 Antibodies Phase 1, Phase 2
28 Immunoglobulins Phase 1, Phase 2
29 Immunologic Factors Phase 1, Phase 2
30
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
31
Aspartic acid Approved, Nutraceutical 56-84-8 5960
32
Choline Approved, Nutraceutical 62-49-7 305
33 Omega 3 Fatty Acid
34 N-Methylaspartate

Interventional clinical trials:

(show all 17)
# 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 PCSK9 Inhibitor Treatment for Patients With Hereditary Spastic Paraplegia Type 5 Recruiting NCT04101643 Phase 1, Phase 2 evolocumab
5 Diagnostic Potential of Hypermethylated DNA in Colorectal Cancer Unknown status NCT02928120
6 A Pilot Study of Repetitive Transcranial Magnetic Stimulation for Improvement of Gait in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy Completed NCT03627416
7 Nuclear Magnetic Spectroscopy for the Evaluation of Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis Completed NCT00023075
8 A Patient Centric Motor Neuron Disease Activities of Daily Living Scale Completed NCT02852278
9 Studying Cognition in SPG4 Compared to Healthy Controls Completed NCT03104088
10 Disease Natural History and Biomarkers of SPG3A, SPG4 and SPG31 Recruiting NCT02859428
11 Studying the Presymptomatic and Early Phase of SPG4 Recruiting NCT03206190
12 Phenotype, Genotype & Biomarkers in ALS and Related Disorders Recruiting NCT02327845
13 Improving Gait Adaptability in Hereditary Spastic Paraplegia During Task-specific Training on the C-Mill: Towards Evidence-Based and Individually Tailored Rehabilitation Recruiting NCT04180098
14 Clinical and Molecular Manifestations of Neuromuscular and Neurogenetic Disorders of Childhood Recruiting NCT01568658
15 Studying Non-motor Symptoms in Patients With Hereditary Spastic Paraplegia (HSP) Compared to Healthy Controls Recruiting NCT03204773
16 Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders Not yet recruiting NCT03981276
17 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:

40
Brain, Spinal Cord, Thyroid, Bone, Testes, Heart, T Cells

Publications for Spastic Paraplegia 20, Autosomal Recessive

Articles related to Spastic Paraplegia 20, Autosomal Recessive:

(show all 41)
# Title Authors PMID Year
1
SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. 54 61 24 56 6
12134148 2002
2
Three cases of Troyer syndrome in two families of Filipino descent. 61 24 56 6
27112432 2016
3
Recurrent null mutation in SPG20 leads to Troyer syndrome. 61 24 56 6
26003402 2015
4
Developmental and degenerative features in a complicated spastic paraplegia. 61 24 56 6
20437587 2010
5
Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism? 54 61 56 6
18413476 2008
6
Endogenous spartin (SPG20) is recruited to endosomes and lipid droplets and interacts with the ubiquitin E3 ligases AIP4 and AIP5. 54 61 24
19580544 2009
7
The Troyer syndrome (SPG20) protein spartin interacts with Eps15. 54 61 24
16036216 2005
8
Troyer Syndrome 61 6
20301556 2004
9
Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia. 54 61 24
15372254 2004
10
Familial spastic paraplegia with distal muscle wasting in the Old Order Amish; atypical Troyer syndrome or "new" syndrome. 61 56
1261070 1976
11
The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting. 61 56
6022528 1967
12
SPG20 mutation in three siblings with familial hereditary spastic paraplegia. 61 24
28679690 2017
13
Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency. 61 24
27539578 2017
14
De novo partial deletion in GRID2 presenting with complicated spastic paraplegia. 6
24122788 2014
15
Hereditary Spastic Paraplegia Overview 6
20301682 2000
16
Identification of novel spartin-interactors shows spartin is a multifunctional protein. 54 61
19765186 2009
17
A role for ubiquitin ligases and Spartin/SPG20 in lipid droplet turnover. 54 61
19307600 2009
18
Neuropathy target esterase gene mutations cause motor neuron disease. 54 61
18313024 2008
19
Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking. 54 61
17332501 2007
20
The hereditary spastic paraplegia protein spartin localises to mitochondria. 54 61
16945107 2006
21
Advances in the hereditary spastic paraplegias. 24
14597333 2003
22
The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. 24
12676568 2003
23
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. 24
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. 61
31314595 2019
25
Dwarfism in Troyer syndrome: a family with SPG20 compound heterozygous mutations and a literature review. 61
31535723 2019
26
Novel SPG20 mutation in an extended family with Troyer syndrome. 61
28875386 2017
27
Different expression levels of spartin cause broad spectrum of cellular consequences in human neuroblastoma cells. 61
25821002 2015
28
Oxidative Stress in Caenorhabditis elegans: Protective Effects of Spartin. 61
26114733 2015
29
The role of spartin and its novel ubiquitin binding region in DALIS occurrence. 61
24523286 2014
30
Spartin regulates synaptic growth and neuronal survival by inhibiting BMP-mediated microtubule stabilization. 61
23439121 2013
31
Spg20-/- mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling. 61
22619377 2012
32
SPG20 protein spartin associates with cardiolipin via its plant-related senescence domain and regulates mitochondrial Ca2+ homeostasis. 61
21559443 2011
33
Motor neuron disease due to neuropathy target esterase gene mutation: clinical features of the index families. 61
21171093 2011
34
SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis. 61
20719964 2010
35
Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons. 54
16781711 2006
36
Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. 54
16534102 2006
37
A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. 54
14985266 2004
38
Troyer syndrome: a combination of central brain abnormality and motor neuron disease? 61
10463356 1999
39
Troyer Syndrome: report of the first "non-Amish" sibship and review. 61
7864052 1994
40
[The Troyer syndrome]. 61
8128647 1993
41
Troyer syndrome: a recessively inherited form of spastic paraplegia with distal muscle wasting. 61
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 63) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SPART NM_015087.5(SPART):c.1110del (p.Lys370fs)deletion Pathogenic 3457 rs1060499524 13:36903553-36903553 13:36329416-36329416
2 SPART NM_015087.5(SPART):c.364_365del (p.Met122fs)deletion Pathogenic 3458 rs775736341 13:36909603-36909604 13:36335466-36335467
3 SPART NM_015087.5(SPART):c.685C>T (p.Gln229Ter)SNV Pathogenic 572922 rs748835312 13:36909283-36909283 13:36335146-36335146
4 SPART NM_015087.5(SPART):c.627G>A (p.Pro209=)SNV Conflicting interpretations of pathogenicity 311770 rs370385005 13:36909341-36909341 13:36335204-36335204
5 SPART NM_015087.5(SPART):c.1155T>G (p.Arg385=)SNV Conflicting interpretations of pathogenicity 240962 rs140222511 13:36903508-36903508 13:36329371-36329371
6 SPART NM_015087.5(SPART):c.1172A>G (p.Asp391Gly)SNV Conflicting interpretations of pathogenicity 216687 rs148833652 13:36900828-36900828 13:36326691-36326691
7 SPART NM_015087.5(SPART):c.361G>T (p.Asp121Tyr)SNV Conflicting interpretations of pathogenicity 216688 rs146398746 13:36909607-36909607 13:36335470-36335470
8 SPART NM_015087.5(SPART):c.360A>G (p.Lys120=)SNV Conflicting interpretations of pathogenicity 311771 rs149730980 13:36909608-36909608 13:36335471-36335471
9 SPART NM_015087.5(SPART):c.*2454A>TSNV Uncertain significance 311736 rs74868982 13:36876048-36876048 13:36301911-36301911
10 SPART NM_015087.5(SPART):c.*1456G>ASNV Uncertain significance 311749 rs562306593 13:36877046-36877046 13:36302909-36302909
11 SPART NM_015087.5(SPART):c.*1014A>GSNV Uncertain significance 311750 rs886050134 13:36877488-36877488 13:36303351-36303351
12 SPART NM_015087.5(SPART):c.1745A>T (p.Asn582Ile)SNV Uncertain significance 311765 rs139085653 13:36878758-36878758 13:36304621-36304621
13 SPART NM_015087.5(SPART):c.1470C>T (p.Val490=)SNV Uncertain significance 311766 rs750472401 13:36888377-36888377 13:36314240-36314240
14 SPART NM_015087.5(SPART):c.852G>A (p.Pro284=)SNV Uncertain significance 311768 rs571222120 13:36905692-36905692 13:36331555-36331555
15 SPART NM_001142294.1(SPART):c.-2-10637_-2-10636delshort repeat Uncertain significance 311775 rs886050138 13:36920605-36920606 13:36346468-36346469
16 SPART NM_001142294.1(SPART):c.-2-10651T>GSNV Uncertain significance 311777 rs886050139 13:36920620-36920620 13:36346483-36346483
17 SPART NM_015087.5(SPART):c.*2256G>ASNV Uncertain significance 311739 rs886050131 13:36876246-36876246 13:36302109-36302109
18 SPART NM_015087.5(SPART):c.*2150_*2154deldeletion Uncertain significance 311741 rs747194340 13:36876348-36876352 13:36302211-36302215
19 SPART NM_015087.5(SPART):c.*734T>CSNV Uncertain significance 311754 rs886050135 13:36877768-36877768 13:36303631-36303631
20 SPART NM_015087.5(SPART):c.*451G>ASNV Uncertain significance 311760 rs1054149 13:36878051-36878051 13:36303914-36303914
21 SPART NM_015087.5(SPART):c.686A>G (p.Gln229Arg)SNV Uncertain significance 311769 rs570884857 13:36909282-36909282 13:36335145-36335145
22 SPART NM_015087.5(SPART):c.*1892G>ASNV Uncertain significance 311744 rs373152101 13:36876610-36876610 13:36302473-36302473
23 SPART NM_015087.5(SPART):c.*1848A>CSNV Uncertain significance 311745 rs553638012 13:36876654-36876654 13:36302517-36302517
24 SPART NM_015087.5(SPART):c.*1550A>GSNV Uncertain significance 311748 rs886050133 13:36876952-36876952 13:36302815-36302815
25 SPART NM_015087.5(SPART):c.1127A>G (p.Asn376Ser)SNV Uncertain significance 240963 rs368305530 13:36903536-36903536 13:36329399-36329399
26 GRID2 NC_000004.11:g.92981313_93256907deldeletion Uncertain significance 126425 4:92981313-93256907 4:92060162-92335756
27 SPART NM_015087.5(SPART):c.-33C>TSNV Uncertain significance 311772 rs886050137 13:36920392-36920392 13:36346255-36346255
28 SPART NM_015087.5(SPART):c.*2299T>CSNV Uncertain significance 311738 rs564428460 13:36876203-36876203 13:36302066-36302066
29 SPART NM_015087.5(SPART):c.*2204C>TSNV Uncertain significance 311740 rs564614485 13:36876298-36876298 13:36302161-36302161
30 SPART NM_015087.5(SPART):c.*1794A>GSNV Uncertain significance 311747 rs886050132 13:36876708-36876708 13:36302571-36302571
31 SPART NM_015087.5(SPART):c.*716G>ASNV Uncertain significance 311755 rs574483995 13:36877786-36877786 13:36303649-36303649
32 SPART NM_015087.5(SPART):c.*699_*703GTATT[1]short repeat Uncertain significance 311756 rs886050136 13:36877794-36877798 13:36303657-36303661
33 SPART NM_015087.5(SPART):c.*446T>CSNV Uncertain significance 311761 rs190515727 13:36878056-36878056 13:36303919-36303919
34 SPART NM_015087.5(SPART):c.1964C>T (p.Thr655Met)SNV Uncertain significance 311763 rs140800614 13:36878539-36878539 13:36304402-36304402
35 SPART NM_015087.5(SPART):c.*285deldeletion Uncertain significance 311762 rs570720520 13:36878217-36878217 13:36304080-36304080
36 SPART NM_015087.5(SPART):c.1954G>A (p.Asp652Asn)SNV Uncertain significance 311764 rs143274967 13:36878549-36878549 13:36304412-36304412
37 SPART NM_015087.5(SPART):c.1414G>T (p.Ala472Ser)SNV Uncertain significance 311767 rs142482393 13:36888433-36888433 13:36314296-36314296
38 SPART NM_015087.5(SPART):c.-118C>ASNV Uncertain significance 311773 rs528288894 13:36920477-36920477 13:36346340-36346340
39 SPART NM_015087.5(SPART):c.560A>G (p.Tyr187Cys)SNV Uncertain significance 409265 rs375284717 13:36909408-36909408 13:36335271-36335271
40 SPART NM_015087.5(SPART):c.68C>A (p.Ala23Asp)SNV Uncertain significance 424442 rs753340463 13:36909900-36909900 13:36335763-36335763
41 SPART NM_015087.5(SPART):c.1782G>A (p.Ala594=)SNV Uncertain significance 461204 rs201110879 13:36878721-36878721 13:36304584-36304584
42 SPART NM_015087.5(SPART):c.473_474CT[1] (p.Leu159fs)short repeat Uncertain significance 631700 rs1480709252 13:36909492-36909493 13:36335355-36335356
43 SPART NM_015087.5(SPART):c.1909G>A (p.Glu637Lys)SNV Uncertain significance 644380 13:36878594-36878594 13:36304457-36304457
44 SPART NM_015087.5(SPART):c.1172A>T (p.Asp391Val)SNV Uncertain significance 530402 rs148833652 13:36900828-36900828 13:36326691-36326691
45 SPART NM_015087.5(SPART):c.1309G>T (p.Gly437Cys)SNV Uncertain significance 530401 rs139819321 13:36888538-36888538 13:36314401-36314401
46 SPART NM_015087.5(SPART):c.1837G>A (p.Val613Met)SNV Uncertain significance 461205 rs574448043 13:36878666-36878666 13:36304529-36304529
47 SPART NM_015087.5(SPART):c.720T>A (p.Ser240Arg)SNV Uncertain significance 188074 rs780452995 13:36909248-36909248 13:36335111-36335111
48 SPART NM_015087.5(SPART):c.1512C>T (p.Cys504=)SNV Likely benign 530403 rs376411341 13:36886586-36886586 13:36312449-36312449
49 SPART NM_015087.5(SPART):c.*608C>TSNV Likely benign 311758 rs1054144 13:36877894-36877894 13:36303757-36303757
50 SPART NM_015087.5(SPART):c.*524A>GSNV Likely benign 311759 rs1054141 13:36877978-36877978 13:36303841-36303841

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

73
# 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

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

# Super pathways Score Top Affiliating Genes
1 11.5 WWP1 SPG21 SPART ITCH IST1 EPS15

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 endosome GO:0005768 9.55 SPG21 SPAST PLIN3 ITCH EPS15
2 lipid droplet GO:0005811 9.13 SPAST SPART PLIN3
3 midbody GO:0030496 8.92 ZFYVE26 SPAST SPART IST1

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

# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.62 ZFYVE26 SPAST SPART IST1
2 anterograde axonal transport GO:0008089 9.37 SPG7 SPAST
3 cytoskeleton-dependent cytokinesis GO:0061640 9.26 SPAST IST1
4 lipid droplet organization GO:0034389 9.16 SPART BSCL2
5 viral entry into host cell GO:0046718 9.13 WWP1 ITCH EPS15
6 abscission GO:0009838 8.62 SPART IST1

Sources for Spastic Paraplegia 20, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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61 PubMed
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68 SNOMED-CT via HPO
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