MCID: SPS031
MIFTS: 31

Spastic Paraplegia 23

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic diseases

Aliases & Classifications for Spastic Paraplegia 23

MalaCards integrated aliases for Spastic Paraplegia 23:

Name: Spastic Paraplegia 23 57 12 53 75 29 6 73
Lison Syndrome 57 12 53 59 75
Spg23 57 12 59 75
Spastic Paraplegia with Pigmentary Abnormalities 57 12 75
Spastic Paraparesis-Vitiligo-Premature Graying-Characteristic Facies Syndrome 12 59
Spastic Paraparesis, Vitiligo, Premature Graying, Characteristic Facies 57 75
Autosomal Recessive Spastic Paraplegia Type 23 53 59
Hereditary Spastic Paraplegia 23 12 15
Spastic Paraplegia Vitiligo Premature Graying and Characteristic Facies 53
Spastic Paraplegia and Pigmentary Abnormalities 53
Spg 23 53

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic paraplegia type 23
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
spastic paraplegia 23:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spastic Paraplegia 23

UniProtKB/Swiss-Prot : 75 Spastic paraplegia 23: 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, also known as lison syndrome, is related to spastic paraparesis and spasticity. An important gene associated with Spastic Paraplegia 23 is DSTYK (Dual Serine/Threonine And Tyrosine Protein Kinase). Affiliated tissues include skin and kidney, and related phenotypes are seizures and hyperreflexia

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)

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 101003Disease definitionAutosomal 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.Visit the Orphanet disease page for more resources.

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 1q24-q32.

Related Diseases for Spastic Paraplegia 23

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 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 Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 72
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 51
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
Autosomal Recessive Spastic Paraplegia Type 68 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

Diseases related to Spastic Paraplegia 23 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spastic paraparesis 9.9
2 spasticity 9.9

Symptoms & Phenotypes for Spastic Paraplegia 23

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
extensor plantar responses
cognitive impairment, mild
lower limb weakness
spastic paraplegia, severe

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

Skin Nails Hair Hair:
premature graying of body hair

Head And Neck Face:
micrognathia
retrognathia
thin face

Head And Neck Head:
microcephaly (in some patients)

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


Clinical features from OMIM:

270750

Human phenotypes related to Spastic Paraplegia 23:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
2 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
3 bowel incontinence 59 32 frequent (33%) Frequent (79-30%) HP:0002607
4 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
5 horseshoe kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000085
6 vitiligo 59 32 frequent (33%) Frequent (79-30%) HP:0001045
7 hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002827
8 spastic paraplegia 59 32 frequent (33%) Frequent (79-30%) HP:0001258
9 multiple lentigines 59 32 frequent (33%) Frequent (79-30%) HP:0001003
10 spastic gait 59 32 frequent (33%) Frequent (79-30%) HP:0002064
11 kyphoscoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002751
12 waddling gait 59 32 frequent (33%) Frequent (79-30%) HP:0002515
13 silver-gray hair 59 32 occasional (7.5%) Occasional (29-5%) HP:0002218
14 bowel urgency 59 32 frequent (33%) Frequent (79-30%) HP:0012701
15 microcephaly 32 HP:0000252
16 cognitive impairment 32 HP:0100543
17 micrognathia 32 HP:0000347
18 peripheral neuropathy 32 occasional (7.5%) HP:0009830
19 retrognathia 32 HP:0000278
20 babinski sign 32 HP:0003487
21 narrow face 32 HP:0000275
22 lower limb muscle weakness 32 HP:0007340
23 hyperpigmentation in sun-exposed areas 32 HP:0005586
24 premature graying of body hair 32 HP:0004771

Drugs & Therapeutics for Spastic Paraplegia 23

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 23

Genetic Tests for Spastic Paraplegia 23

Genetic tests related to Spastic Paraplegia 23:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 23 29 DSTYK

Anatomical Context for Spastic Paraplegia 23

MalaCards organs/tissues related to Spastic Paraplegia 23:

41
Skin, Kidney

Publications for Spastic Paraplegia 23

Variations for Spastic Paraplegia 23

ClinVar genetic disease variations for Spastic Paraplegia 23:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DSTYK DSTYK, 4-KB DEL AND 20-BP INS indel Pathogenic

Expression for Spastic Paraplegia 23

Search GEO for disease gene expression data for Spastic Paraplegia 23.

Pathways for Spastic Paraplegia 23

GO Terms for Spastic Paraplegia 23

Sources for Spastic Paraplegia 23

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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