SPG23
MCID: SPS231
MIFTS: 28

Spastic Paraplegia 23, Autosomal Recessive (SPG23)

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

Aliases & Classifications for Spastic Paraplegia 23, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 23, Autosomal Recessive:

Name: Spastic Paraplegia 23, Autosomal Recessive 57 72
Lison Syndrome 57 20 58 72
Spastic Paraparesis, Vitiligo, Premature Graying, Characteristic Facies 57 72 6
Spastic Paraplegia 23 57 20 70
Spg23 57 58 72
Spastic Paraplegia with Pigmentary Abnormalities 57 72
Autosomal Recessive Spastic Paraplegia Type 23 20 58
Spastic Paraparesis-Vitiligo-Premature Graying-Characteristic Facies Syndrome 58
Spastic Paraplegia Vitiligo Premature Graying and Characteristic Facies 20
Spastic Paraplegia and Pigmentary Abnormalities 20
Spg 23 20

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic paraplegia type 23
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

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

Miscellaneous:
pigmentary abnormalities apparent at birth or in infancy
onset of spasticity in childhood


HPO:

31
spastic paraplegia 23, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spastic Paraplegia 23, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 Spastic paraplegia 23, 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. SPG23 is an autosomal recessive form characterized by childhood-onset of gait difficulties and pigmentary abnormalities, including premature graying of the hair and vitiligo-like or hyperpigmented skin lesions.

MalaCards based summary : Spastic Paraplegia 23, Autosomal Recessive, also known as lison syndrome, is related to hereditary spastic paraplegia 23 and spastic paraparesis. An important gene associated with Spastic Paraplegia 23, Autosomal Recessive is DSTYK (Dual Serine/Threonine And Tyrosine Protein Kinase). Affiliated tissues include eye, kidney and skin, and related phenotypes are hyperreflexia and bowel incontinence

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101003 Definition Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.

OMIM® : 57 Spastic paraplegia-23 is an autosomal recessive neurologic disorder characterized by childhood-onset spastic paraplegia resulting in gait difficulties and associated with pigmentary abnormalities, including premature graying of the hair and vitiligo-like or hyperpigmented skin lesions. Some patients may also have a peripheral neuropathy (summary by Lee et al., 2017). (270750) (Updated 20-May-2021)

Related Diseases for Spastic Paraplegia 23, 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 Dominant
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
Spastic Paraplegia 81, Autosomal Recessive Spastic Paraplegia 82, Autosomal Recessive
Spastic Paraplegia 83, Autosomal Recessive Hereditary Spastic Paraplegia 23
Hereditary Spastic Paraplegia 30 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 23, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hereditary spastic paraplegia 23 11.0
2 spastic paraparesis 9.9

Symptoms & Phenotypes for Spastic Paraplegia 23, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 23, Autosomal Recessive:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
2 bowel incontinence 58 31 frequent (33%) Frequent (79-30%) HP:0002607
3 vitiligo 58 31 frequent (33%) Frequent (79-30%) HP:0001045
4 waddling gait 58 31 frequent (33%) Frequent (79-30%) HP:0002515
5 kyphoscoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002751
6 multiple lentigines 58 31 frequent (33%) Frequent (79-30%) HP:0001003
7 spastic paraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0001258
8 spastic gait 58 31 frequent (33%) Frequent (79-30%) HP:0002064
9 bowel urgency 58 31 frequent (33%) Frequent (79-30%) HP:0012701
10 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
11 horseshoe kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000085
12 hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002827
13 silver-gray hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002218
14 peripheral neuropathy 31 occasional (7.5%) HP:0009830
15 seizure 31 occasional (7.5%) HP:0001250
16 seizures 58 Occasional (29-5%)
17 microcephaly 31 HP:0000252
18 cognitive impairment 31 HP:0100543
19 retrognathia 31 HP:0000278
20 micrognathia 31 HP:0000347
21 narrow face 31 HP:0000275
22 babinski sign 31 HP:0003487
23 lower limb muscle weakness 31 HP:0007340
24 hyperpigmentation in sun-exposed areas 31 HP:0005586
25 premature graying of body hair 31 HP:0004771

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hyperreflexia
extensor plantar responses
cognitive impairment, mild
lower limb weakness
spastic paraplegia, severe

Skin Nails Hair Hair:
premature graying of body hair

Head And Neck Head:
microcephaly (in some patients)

Head And Neck Face:
retrognathia
micrognathia
thin face

Skin Nails Hair Skin:
lentigines
patchy vitiligo
hyperpigmentation of exposed areas

Neurologic Peripheral Nervous System:
peripheral neuropathy, mild, in some

Clinical features from OMIM®:

270750 (Updated 20-May-2021)

Drugs & Therapeutics for Spastic Paraplegia 23, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 23, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 23, Autosomal Recessive

Anatomical Context for Spastic Paraplegia 23, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 23, Autosomal Recessive:

40
Eye, Kidney, Skin

Publications for Spastic Paraplegia 23, Autosomal Recessive

Articles related to Spastic Paraplegia 23, Autosomal Recessive:

# Title Authors PMID Year
1
Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23. 57 6 61
28157540 2017
2
A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32. 61 6 57
14681889 2003
3
Spastic paraparesis, mental retardation, and cutaneous pigmentation disorder. A new syndrome. 57 6
4061404 1985
4
Vitiligo-spasticity syndrome: new case. 57
12868479 2003
5
Familial spinocerebellar ataxia with skin hyperpigmentation. 57
6886718 1983
6
Familial spastic paraplegia, peroneal neuropathy, and crural hypopigmentation: a new neurocutaneous syndrome. 57
6264350 1981
7
Progressive spastic paraparesis, vitiligo, premature graying, and distinct facial appearance: a new genetic syndrome in 3 sibs. 57
7294071 1981
8
Disordered pigmentation, spastic paraparesis and peripheral neuropathy in three siblings: a new neurocutaneous syndrome. 57
7441281 1980
9
Characterization and degradation potential of diesel-degrading bacterial strains for application in bioremediation. 61
28598213 2017
10
Draft Genome Sequence of Arthrobacter sp. Strain SPG23, a Hydrocarbon-Degrading and Plant Growth-Promoting Soil Bacterium. 61
26701084 2015

Variations for Spastic Paraplegia 23, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 23, Autosomal Recessive:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DSTYK NM_015375.3(DSTYK):c.2467+930_*1895delinsTGTAGTCCTGCTCCTTGAGG Indel Pathogenic 417786 GRCh37: 1:205114791-205118878
GRCh38: 1:205145663-205149750
2 DSTYK NM_015375.3(DSTYK):c.609T>G (p.His203Gln) SNV Uncertain significance 807907 rs748982270 GRCh37: 1:205156591-205156591
GRCh38: 1:205187463-205187463

Expression for Spastic Paraplegia 23, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 23, Autosomal Recessive.

Pathways for Spastic Paraplegia 23, Autosomal Recessive

GO Terms for Spastic Paraplegia 23, Autosomal Recessive

Sources for Spastic Paraplegia 23, Autosomal Recessive

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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