SPG23
MCID: HRD210
MIFTS: 24

Hereditary Spastic Paraplegia 23 (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 Hereditary Spastic Paraplegia 23

MalaCards integrated aliases for Hereditary Spastic Paraplegia 23:

Name: Hereditary Spastic Paraplegia 23 12 29 6 15
Spastic Paraparesis-Vitiligo-Premature Graying-Characteristic Facies Syndrome 12
Spastic Paraplegia with Pigmentary Abnormalities 12
Spastic Paraplegia 23 12
Lison Syndrome 12
Spg23 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110774
ICD10 32 G11.4

Summaries for Hereditary Spastic Paraplegia 23

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

MalaCards based summary : Hereditary Spastic Paraplegia 23, also known as spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome, is related to spastic paraparesis and spastic paraplegia 23, autosomal recessive. An important gene associated with Hereditary Spastic Paraplegia 23 is DSTYK (Dual Serine/Threonine And Tyrosine Protein Kinase), and among its related pathways/superpathways is Endocytosis. Affiliated tissues include eye.

Related Diseases for Hereditary 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, 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 Hereditary Spastic Paraplegia 23 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 spastic paraparesis 29.7 SPG11 KIF1C DSTYK
2 spastic paraplegia 23, autosomal recessive 11.6
3 spastic paraplegia 24, autosomal recessive 10.2 SPG21 KIF1C
4 spastic paraplegia 36, autosomal dominant 10.2 SPG21 KIF1C
5 spastic paraplegia 73, autosomal dominant 10.1 SPG21 KIF1C
6 charcot-marie-tooth disease, axonal, type 2r 10.1 ZFYVE26 SPG21
7 charcot-marie-tooth disease, axonal, type 2t 10.1 ZFYVE26 SPG21
8 neuropathy, hereditary sensory, type iic 10.0 SPG21 SPG11
9 hereditary spastic paraplegia 72 10.0 ZFYVE26 SPG11
10 spastic paraplegia 76, autosomal recessive 10.0 SPG11 KIF1C
11 spastic paraplegia 54, autosomal recessive 10.0 SPG21 SPG11
12 spinocerebellar ataxia, autosomal recessive 24 10.0 KIF1C CYP7B1
13 spastic paraplegia 20, autosomal recessive 10.0 ZFYVE26 SPG21 SPART
14 amyotrophic lateral sclerosis type 5 9.9 ZFYVE26 SPG11
15 complex hereditary spastic paraplegia 9.9 SPG11 CYP7B1
16 spinocerebellar ataxia, autosomal recessive 20 9.9 ZFYVE26 SPG11
17 hereditary spastic paraplegia 51 9.9 ZFYVE26 SPG21 SPG11
18 spastic paraplegia 64, autosomal recessive 9.9 ZFYVE26 SPG21 SPG11
19 spastic paraplegia 52, autosomal recessive 9.9 ZFYVE26 SPG21 SPG11
20 spastic paraplegia 50, autosomal recessive 9.9 ZFYVE26 SPG21 SPG11
21 spastic paraplegia 61, autosomal recessive 9.9 ZFYVE26 SPG21 SPG11
22 spastic paraplegia 49, autosomal recessive 9.9 ZFYVE26 SPG21 SPG11
23 spastic paraplegia 55, autosomal recessive 9.9 ZFYVE26 SPG21 SPG11
24 spastic paraplegia 11, autosomal recessive 9.9 ZFYVE26 SPG21 SPG11
25 spastic paraplegia 56, autosomal recessive 9.8 ZFYVE26 SPG21 SPG11
26 mast syndrome 9.8 SPG21 SPG11 SPART
27 spastic paraplegia 53, autosomal recessive 9.8 WASHC5 SLC33A1
28 spastic paraplegia 27, autosomal recessive 9.8 SPG21 SLC33A1 KIF1C
29 spastic paraplegia 3, autosomal dominant 9.8 WASHC5 SPG11
30 spastic paraplegia 5a, autosomal recessive 9.7 ZFYVE26 SPG11 CYP7B1
31 motor neuron disease 9.7 ZFR SPART KIF1C
32 spastic paraplegia 43, autosomal recessive 9.7 SPG11 SLC33A1
33 aceruloplasminemia 9.7 SPART SLC33A1 KIF1C
34 motor peripheral neuropathy 9.7 ZFYVE26 SPG11
35 spastic paraplegia 14, autosomal recessive 9.6 SPG21 SPG11 SLC33A1
36 hereditary spastic paraplegia 30 9.6 WASHC5 SPG21 SPG11 KIF1C
37 spastic paraplegia 13, autosomal dominant 9.6 SPG21 SPG11 SLC33A1
38 spastic paraplegia 18, autosomal recessive 9.6 ZFYVE26 WASHC5 SPG21 SPG11
39 spastic paraplegia 48, autosomal recessive 9.6 ZFYVE26 WASHC5 SPG21 SPG11
40 spastic paraplegia 12, autosomal dominant 9.6 ZFYVE26 WASHC5 SPG21 SPG11
41 charcot-marie-tooth disease, axonal, type 2e 9.6 ZFYVE26 SPG21 SPG11
42 spastic paraplegia 47, autosomal recessive 9.6 ZFYVE26 WASHC5 SPG21 SPG11
43 spastic paraplegia 37, autosomal dominant 9.6 ZFYVE26 SPG21 SPART SLC33A1
44 spastic paraplegia 63, autosomal recessive 9.6 ZFR SPG21 SPG11 CYP7B1
45 spastic paraplegia 29, autosomal dominant 9.5 ZFYVE26 WASHC5 SPG21 SLC33A1
46 spastic paraplegia 25, autosomal recessive 9.5 ZFYVE26 WASHC5 SPG21 SLC33A1
47 spastic paraplegia 19, autosomal dominant 9.5 ZFYVE26 WASHC5 SPG21 SLC33A1
48 spastic paraplegia 34, x-linked 9.5 ZFYVE26 WASHC5 SPG21 SLC33A1
49 spastic paraplegia 45, autosomal recessive 9.4 ZFR SPG21 SPG11 SPART KIF1C
50 spastic paraplegia 46, autosomal recessive 9.4 ZFYVE26 SPG21 SPG11 KIF1C CYP7B1

Graphical network of the top 20 diseases related to Hereditary Spastic Paraplegia 23:



Diseases related to Hereditary Spastic Paraplegia 23

Symptoms & Phenotypes for Hereditary Spastic Paraplegia 23

Drugs & Therapeutics for Hereditary Spastic Paraplegia 23

Search Clinical Trials , NIH Clinical Center for Hereditary Spastic Paraplegia 23

Genetic Tests for Hereditary Spastic Paraplegia 23

Genetic tests related to Hereditary Spastic Paraplegia 23:

# Genetic test Affiliating Genes
1 Hereditary Spastic Paraplegia 23 29 DSTYK

Anatomical Context for Hereditary Spastic Paraplegia 23

MalaCards organs/tissues related to Hereditary Spastic Paraplegia 23:

40
Eye

Publications for Hereditary Spastic Paraplegia 23

Articles related to Hereditary Spastic Paraplegia 23:

# Title Authors PMID Year
1
Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23. 6 61
28157540 2017
2
A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32. 61 6
14681889 2003
3
Spastic paraparesis, mental retardation, and cutaneous pigmentation disorder. A new syndrome. 6
4061404 1985
4
Characterization and degradation potential of diesel-degrading bacterial strains for application in bioremediation. 61
28598213 2017
5
Draft Genome Sequence of Arthrobacter sp. Strain SPG23, a Hydrocarbon-Degrading and Plant Growth-Promoting Soil Bacterium. 61
26701084 2015

Variations for Hereditary Spastic Paraplegia 23

ClinVar genetic disease variations for Hereditary Spastic Paraplegia 23:

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 Hereditary Spastic Paraplegia 23

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

Pathways for Hereditary Spastic Paraplegia 23

Pathways related to Hereditary Spastic Paraplegia 23 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.2 WASHC5 SPG21 SPART

GO Terms for Hereditary Spastic Paraplegia 23

Biological processes related to Hereditary Spastic Paraplegia 23 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome organization GO:0007040 8.62 WASHC5 SPG11

Sources for Hereditary Spastic Paraplegia 23

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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