SPG24
MCID: SPS120
MIFTS: 28

Spastic Paraplegia 24, Autosomal Recessive (SPG24)

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

Aliases & Classifications for Spastic Paraplegia 24, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 24, Autosomal Recessive:

Name: Spastic Paraplegia 24, Autosomal Recessive 56 13 71
Spg24 56 12 58
Autosomal Recessive Spastic Paraplegia Type 24 12 58
Hereditary Spastic Paraplegia 24 12 15
Autosomal Recessive Spastic Paraplegia 24 12

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic paraplegia type 24
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
early onset (average 1 year)


HPO:

31
spastic paraplegia 24, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110775
OMIM 56 607584
OMIM Phenotypic Series 56 PS303350
ICD10 32 G11.4
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 72 C1843569
Orphanet 58 ORPHA101004
MedGen 41 C1843569
UMLS 71 C1843569

Summaries for Spastic Paraplegia 24, Autosomal Recessive

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14.

MalaCards based summary : Spastic Paraplegia 24, Autosomal Recessive, also known as spg24, is related to hereditary spastic paraplegia and spastic paraplegia 24, and has symptoms including clonus, difficulty standing and muscle spasticity. An important gene associated with Spastic Paraplegia 24, Autosomal Recessive is SPG24 (Spastic Paraplegia 24 (Autosomal Recessive)). Related phenotypes are clonus and spastic paraplegia

More information from OMIM: 607584 PS303350

Related Diseases for Spastic Paraplegia 24, 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
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 24, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 hereditary spastic paraplegia 31.6 SPG24 SPG21 KIF1C
2 spastic paraplegia 24 11.6
3 spastic paraplegia 5a 11.2
4 pure hereditary spastic paraplegia 11.2
5 hereditary spastic paraplegia 23 10.1 SPG21 KIF1C
6 spastic paraplegia 27, autosomal recessive 10.1 SPG21 KIF1C
7 hereditary spastic paraplegia 30 10.1 SPG21 KIF1C
8 spastic paraplegia 36, autosomal dominant 10.1 SPG21 KIF1C
9 spastic paraplegia 73, autosomal dominant 10.0 SPG21 KIF1C
10 spastic paraplegia 46, autosomal recessive 10.0 SPG21 KIF1C
11 spastic paraplegia 2, x-linked 10.0 SPG21 DMRTB1
12 premature menopause 9.9 SOHLH2 SOHLH1
13 spastic paraplegia 34, x-linked 9.8 TCEA3 SPG21 DMRTB1
14 spermatogenic failure, x-linked, 1 9.7 STRA8 SOHLH1
15 hemophagocytic lymphohistiocytosis, familial, 1 9.6 SOHLH2 SOHLH1
16 premature ovarian failure 1 9.6 STRA8 SOHLH2 SOHLH1

Graphical network of the top 20 diseases related to Spastic Paraplegia 24, Autosomal Recessive:



Diseases related to Spastic Paraplegia 24, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 24, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 24, Autosomal Recessive:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 clonus 58 31 hallmark (90%) Very frequent (99-80%) HP:0002169
2 spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001258
3 tip-toe gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0030051
4 scissor gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0012407
5 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
6 spasticity 58 31 Very frequent (99-80%) HP:0001257
7 hyperreflexia 58 Very frequent (99-80%)
8 difficulty standing 31 HP:0003698

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
spasticity
hyperreflexia
clonus
difficulty standing
walking on tiptoes
more

Clinical features from OMIM:

607584

UMLS symptoms related to Spastic Paraplegia 24, Autosomal Recessive:


clonus, difficulty standing, muscle spasticity

Drugs & Therapeutics for Spastic Paraplegia 24, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 24, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 24, Autosomal Recessive

Anatomical Context for Spastic Paraplegia 24, Autosomal Recessive

Publications for Spastic Paraplegia 24, Autosomal Recessive

Articles related to Spastic Paraplegia 24, Autosomal Recessive:

# Title Authors PMID Year
1
A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14. 56
12499481 2002
2
Hereditary Spastic Paraplegia Overview 6
20301682 2000
3
Glycoside hydrolase family 32 is present in Bacillus subtilis phages. 61
26438422 2015
4
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. 61
19439420 2009
5
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families. 61
17661097 2007
6
Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description. 61
17503452 2007

Variations for Spastic Paraplegia 24, Autosomal Recessive

Expression for Spastic Paraplegia 24, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 24, Autosomal Recessive.

Pathways for Spastic Paraplegia 24, Autosomal Recessive

GO Terms for Spastic Paraplegia 24, Autosomal Recessive

Biological processes related to Spastic Paraplegia 24, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 spermatogenesis GO:0007283 9.33 STRA8 SOHLH2 SOHLH1
2 oocyte differentiation GO:0009994 8.96 SOHLH2 SOHLH1
3 oogenesis GO:0048477 8.8 STRA8 SOHLH2 SOHLH1

Molecular functions related to Spastic Paraplegia 24, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein dimerization activity GO:0046983 8.8 STRA8 SOHLH2 SOHLH1

Sources for Spastic Paraplegia 24, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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