MCID: TRY002
MIFTS: 48

Troyer Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Troyer Syndrome

MalaCards integrated aliases for Troyer Syndrome:

Name: Troyer Syndrome 54 12 23 50 24 25 51 56 71 29 13 52 14 69
Spg20 12 50 24 25 56 71
Autosomal Recessive Spastic Paraplegia Type 20 12 50 56
Spastic Paraplegia 20, Autosomal Recessive 50 25 71
Spastic Paraplegia 20 12 50 24
Spastic Paraparesis, Childhood-Onset, with Distal Muscle Wasting 50 25
Spastic Paraplegia, Autosomal Recessive, Troyer Type 50 25
Autosomal Recessive Hereditary Spastic Paraplegia 25 69
Cross-Mckusick Syndrome 50 25
Childhood-Onset Spastic Paraparesis-Distal Muscle Wasting Syndrome 56
Childhood-Onset Spastic Paraparesis with Distal Muscle Wasting 12
Spastic Paraparesis Childhood-Onset with Distal Muscle Wasting 71
Autosomal Recessive Spastic Paraplegia Troyer Type 12
Spastic Paraplegia Autosomal Recessive Troyer Type 71
Spastic Paraplegia Hereditary Autosomal Recessive 52
Autosomal Recessive Spastic Paraplegia 20 12
Hereditary Spastic Paraplegia 20 12
Spastic Paraplegia, Hereditary 69
Hereditary Spastic Paraplegia 25
Spastic Paraplegia Type 20 12
Hsp20 24
Trs 71

Characteristics:

Orphanet epidemiological data:

56
autosomal recessive spastic paraplegia type 20
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

54
Inheritance:
autosomal recessive

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


HPO:

32
troyer syndrome:
Onset and clinical course childhood onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


Summaries for Troyer Syndrome

NINDS : 51 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.

MalaCards based summary : Troyer Syndrome, also known as spg20, is related to testicular regression syndrome and spastic paraplegia 24, autosomal recessive, and has symptoms including short stature, brachydactyly and dysarthria. An important gene associated with Troyer Syndrome is KIF1A (Kinesin Family Member 1A), and among its related pathways/superpathways are EGF/EGFR Signaling Pathway and Endocytosis. Affiliated tissues include spinal cord, brain and testes.

NIH Rare Diseases : 50 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. last updated: 12/8/2015

UniProtKB/Swiss-Prot : 71 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.

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.

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.

Wikipedia : 72 Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive... more...

Description from OMIM: 275900
GeneReviews: NBK1382

Related Diseases for Troyer Syndrome

Diseases related to Troyer Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
id Related Disease Score Top Affiliating Genes
1 testicular regression syndrome 11.4
2 spastic paraplegia 24, autosomal recessive 11.2
3 spastic paraplegia 15, autosomal recessive 11.2
4 spastic paraplegia 54, autosomal recessive 11.2
5 spastic paraplegia 18, autosomal recessive 11.2
6 spastic paraplegia 11, autosomal recessive 11.2
7 spastic paraplegia 5a, autosomal recessive 11.2
8 spastic paraplegia 46, autosomal recessive 11.2
9 spastic paraplegia 35, autosomal recessive 11.2
10 spastic paraplegia 47, autosomal recessive 11.2
11 spastic paraplegia 7, autosomal recessive 11.2
12 spastic paraplegia 44, autosomal recessive 11.2
13 spastic paraplegia 39, autosomal recessive 11.2
14 spastic paraplegia 43, autosomal recessive 11.2
15 spastic paraplegia 30, autosomal recessive 11.2
16 spastic paraplegia 57, autosomal recessive 11.2
17 spastic paraplegia 76, autosomal recessive 11.2
18 spastic paraplegia 56, autosomal recessive 11.0
19 spastic paraplegia 55, autosomal recessive 11.0
20 spastic paraplegia 77, autosomal recessive 11.0
21 spastic paraplegia 25, autosomal recessive 11.0
22 spastic paraplegia 52, autosomal recessive 11.0
23 spastic paraplegia 48, autosomal recessive 11.0
24 spastic paraplegia 32, autosomal recessive 11.0
25 spastic paraplegia 50, autosomal recessive 11.0
26 spastic paraplegia 28, autosomal recessive 11.0
27 spastic paraplegia 53, autosomal recessive 11.0
28 spastic paraplegia 49, autosomal recessive 11.0
29 spastic paraplegia 61, autosomal recessive 11.0
30 spastic paraplegia 27, autosomal recessive 11.0
31 spastic paraplegia 64, autosomal recessive 11.0
32 spastic paraplegia 74, autosomal recessive 11.0
33 spastic paraplegia 9b, autosomal recessive 11.0
34 spastic paraplegia 45, autosomal recessive 11.0
35 spastic paraplegia 75, autosomal recessive 11.0
36 spastic paraplegia 14, autosomal recessive 11.0
37 spastic paraplegia 26, autosomal recessive 11.0
38 arsacs 10.9
39 swine influenza 10.8
40 somatization disorder 10.8
41 thyroiditis 10.2
42 paraplegia 10.1
43 spasticity 10.1
44 cerebellar degeneration 10.1
45 paraneoplastic cerebellar degeneration 10.1
46 isodicentric 15 9.9 KIF1A KY
47 spastic paraplegia 13 9.9 KIF1A SPAST
48 hereditary spastic paraplegia 9.9
49 premature ejaculation 9.9
50 personality disorder 9.9

Comorbidity relations with Troyer Syndrome via Phenotypic Disease Network (PDN):


Acute Cystitis

Graphical network of the top 20 diseases related to Troyer Syndrome:



Diseases related to Troyer Syndrome

Symptoms & Phenotypes for Troyer Syndrome

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Skeletal- Hands:
brachydactyly
camptodactyly
clinodactyly
hyperextensible hand joints

Skeletal- Spine:
kyphoscoliosis

Skeletal- Limbs:
contractures

Head And Neck- Mouth:
tongue dyspraxia

Neurologic- Behavioral Psychiatric Manifestations:
emotional lability (variable)

Neurologic- Central Nervous System:
delayed motor development
dysarthria
hyperreflexia
extensor plantar responses
lower limb spasticity
more
Head And Neck- Eyes:
hypertelorism

Skeletal- Feet:
pes cavus
small feet
hammertoes

Head And Neck- Face:
overgrowth of the maxilla

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


Clinical features from OMIM:

275900

Human phenotypes related to Troyer Syndrome:

32 (show all 30)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 brachydactyly 32 HP:0001156
3 dysarthria 32 HP:0001260
4 hyperreflexia 32 HP:0001347
5 spastic paraplegia 32 HP:0001258
6 emotional lability 32 HP:0000712
7 hypertelorism 32 HP:0000316
8 kyphoscoliosis 32 HP:0002751
9 global developmental delay 32 HP:0001263
10 camptodactyly 32 HP:0012385
11 pes cavus 32 HP:0001761
12 upper limb spasticity 32 HP:0006986
13 clinodactyly 32 HP:0030084
14 intellectual disability, mild 32 HP:0001256
15 cerebellar atrophy 32 HP:0001272
16 motor delay 32 HP:0001270
17 spastic paraparesis 32 HP:0002313
18 spastic gait 32 HP:0002064
19 dysmetria 32 HP:0001310
20 drooling 32 HP:0002307
21 ankle clonus 32 HP:0011448
22 difficulty walking 32 HP:0002355
23 distal amyotrophy 32 HP:0003693
24 babinski sign 32 HP:0003487
25 lower limb muscle weakness 32 HP:0007340
26 hyperextensible hand joints 32 HP:0005639
27 short foot 32 HP:0001773
28 hammertoe 32 HP:0001765
29 knee clonus 32 HP:0011449
30 hyperplasia of midface 32 HP:0012371

UMLS symptoms related to Troyer Syndrome:


leg cramps, pain in lower limb, lower limb muscle weakness

Drugs & Therapeutics for Troyer Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Molecular Pathways in Carcinogenesis of Colo Rectal Cancer Not yet recruiting NCT03261752

Search NIH Clinical Center for Troyer Syndrome

Genetic Tests for Troyer Syndrome

Genetic tests related to Troyer Syndrome:

id Genetic test Affiliating Genes
1 Troyer Syndrome 29 24 SPART

Anatomical Context for Troyer Syndrome

MalaCards organs/tissues related to Troyer Syndrome:

39
Spinal Cord, Brain, Testes, Tongue

Publications for Troyer Syndrome

Articles related to Troyer Syndrome:

(show all 16)
id Title Authors Year
1
Novel SPG20 mutation in an extended family with Troyer syndrome. ( 28875386 )
2017
2
Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency. ( 27539578 )
2016
3
Three cases of Troyer syndrome in two families of Filipino descent. ( 27112432 )
2016
4
Recurrent null mutation in SPG20 leads to Troyer syndrome. ( 26003402 )
2015
5
Spg20-/- mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling. ( 22619377 )
2012
6
Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism? ( 18413476 )
2008
7
Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking. ( 17332501 )
2007
8
The Troyer syndrome (SPG20) protein spartin interacts with Eps15. ( 16036216 )
2005
9
Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia. ( 15372254 )
2004
10
SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. ( 12134148 )
2002
11
Troyer syndrome: a combination of central brain abnormality and motor neuron disease? ( 10463356 )
1999
12
Troyer Syndrome: report of the first "non-Amish" sibship and review. ( 7864052 )
1994
13
Troyer Syndrome ( 20301556 )
1993
14
Familial spastic paraplegia with distal muscle wasting in the Old Order Amish; atypical Troyer syndrome or "new" syndrome. ( 1261070 )
1976
15
Troyer syndrome: a recessively inherited form of spastic paraplegia with distal muscle wasting. ( 5173362 )
1971
16
The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting. ( 6022528 )
1967

Variations for Troyer Syndrome

ClinVar genetic disease variations for Troyer Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SPART NM_001142294.1(SPART): c.1110delA (p.Lys370Asnfs) deletion Pathogenic rs1060499524 GRCh38 Chromosome 13, 36329416: 36329416
2 SPART NM_001142294.1(SPART): c.364_365delAT (p.Met122Valfs) deletion Pathogenic rs775736341 GRCh38 Chromosome 13, 36335466: 36335467
3 KIF1A NM_001244008.1(KIF1A): c.206C> T (p.Ser69Leu) single nucleotide variant Pathogenic rs786200949 GRCh37 Chromosome 2, 241727625: 241727625
4 KY NM_178554.4(KY): c.51_52insTATCGACATGTGCTGTATCTATCGACAT (p.Val18Tyrfs) insertion Pathogenic rs1085307110 GRCh37 Chromosome 3, 134369751: 134369752

Expression for Troyer Syndrome

Search GEO for disease gene expression data for Troyer Syndrome.

Pathways for Troyer Syndrome

GO Terms for Troyer Syndrome

Cellular components related to Troyer Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 AP-2 adaptor complex GO:0030122 8.96 EGFR EPS15
2 lipid particle GO:0005811 8.85 SPAST
3 axon cytoplasm GO:1904115 8.8 KIF1A SPAST SPG7

Biological processes related to Troyer Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 epidermal growth factor receptor signaling pathway GO:0007173 9.26 EGFR EPS15
2 negative regulation of epidermal growth factor receptor signaling pathway GO:0042059 9.16 EGFR EPS15
3 anterograde axonal transport GO:0008089 9.13 KIF1A SPAST SPG7
4 viral entry into host cell GO:0046718 8.8 EPS15 ITCH WWP1

Sources for Troyer Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....