SPG23
MCID: SPS231
MIFTS: 33

Spastic Paraplegia 23, Autosomal Recessive (SPG23)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare 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 58
Spastic Paraplegia 23 58 54 76 30 6
Lison Syndrome 58 54 60 76
Spg23 58 60 76
Spastic Paraparesis, Vitiligo, Premature Graying, Characteristic Facies 58 76
Spastic Paraplegia with Pigmentary Abnormalities 58 76
Autosomal Recessive Spastic Paraplegia Type 23 54 60
Spastic Paraparesis-Vitiligo-Premature Graying-Characteristic Facies Syndrome 60
Spastic Paraplegia Vitiligo Premature Graying and Characteristic Facies 54
Spastic Paraplegia and Pigmentary Abnormalities 54
Spg 23 54

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive spastic paraplegia type 23
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
spastic paraplegia 23, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Spastic Paraplegia 23, Autosomal Recessive

UniProtKB/Swiss-Prot : 76 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, Autosomal Recessive, also known as spastic paraplegia 23, is related to cone-rod dystrophy and hearing loss 2 and hereditary spastic paraplegia 23. An important gene associated with Spastic Paraplegia 23, Autosomal Recessive is DSTYK (Dual Serine/Threonine And Tyrosine Protein Kinase). Affiliated tissues include skin, kidney and bone, and related phenotypes are hyperreflexia and bowel incontinence

NIH Rare Diseases : 54 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.

OMIM : 58 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)

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 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 Hereditary Spastic Paraplegia 23
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 47
Spastic Paraplegia 51 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 cone-rod dystrophy and hearing loss 2 11.1
2 hereditary spastic paraplegia 23 11.1
3 spastic paraparesis 10.1

Symptoms & Phenotypes for Spastic Paraplegia 23, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 23, Autosomal Recessive:

60 33 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347
2 bowel incontinence 60 33 frequent (33%) Frequent (79-30%) HP:0002607
3 vitiligo 60 33 frequent (33%) Frequent (79-30%) HP:0001045
4 waddling gait 60 33 frequent (33%) Frequent (79-30%) HP:0002515
5 kyphoscoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002751
6 spastic paraplegia 60 33 frequent (33%) Frequent (79-30%) HP:0001258
7 multiple lentigines 60 33 frequent (33%) Frequent (79-30%) HP:0001003
8 spastic gait 60 33 frequent (33%) Frequent (79-30%) HP:0002064
9 bowel urgency 60 33 frequent (33%) Frequent (79-30%) HP:0012701
10 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
11 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
12 horseshoe kidney 60 33 occasional (7.5%) Occasional (29-5%) HP:0000085
13 hip dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002827
14 silver-gray hair 60 33 occasional (7.5%) Occasional (29-5%) HP:0002218
15 peripheral neuropathy 33 occasional (7.5%) HP:0009830
16 microcephaly 33 HP:0000252
17 cognitive impairment 33 HP:0100543
18 micrognathia 33 HP:0000347
19 retrognathia 33 HP:0000278
20 babinski sign 33 HP:0003487
21 narrow face 33 HP:0000275
22 lower limb muscle weakness 33 HP:0007340
23 hyperpigmentation in sun-exposed areas 33 HP:0005586
24 premature graying of body hair 33 HP:0004771

Symptoms via clinical synopsis from OMIM:

58
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

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

Genetic tests related to Spastic Paraplegia 23, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 23 30 DSTYK

Anatomical Context for Spastic Paraplegia 23, Autosomal Recessive

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

42
Skin, Kidney, Bone, Eye

Publications for Spastic Paraplegia 23, Autosomal Recessive

Articles related to Spastic Paraplegia 23, Autosomal Recessive:

# Title Authors Year
1
Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23. ( 28157540 )
2017
2
A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32. ( 14681889 )
2003
3
Spastic paraparesis, mental retardation, and cutaneous pigmentation disorder. A new syndrome. ( 4061404 )
1985

Variations for Spastic Paraplegia 23, Autosomal Recessive

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

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, 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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