SPG24
MCID: SPS120
MIFTS: 33

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 spastic paraplegia 5a and hereditary spastic paraplegia, 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)). Affiliated tissues include eye, bone and skin, and 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 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 23 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 37)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 5a 32.4 SPG24 CYP7B1
2 hereditary spastic paraplegia 31.7 SPG7 SPG24 SPG21 KIF1C CYP7B1
3 spastic paraplegia 24 11.6
4 pure hereditary spastic paraplegia 11.2
5 spastic paraplegia 27, autosomal recessive 10.5 SPG21 KIF1C
6 spastic paraplegia 73, autosomal dominant 10.5 SPG21 KIF1C
7 spastic paraplegia 45, autosomal recessive 10.4 SPG21 KIF1C
8 spastic paraplegia 32, autosomal recessive 10.4 SPG7 SPG21
9 spastic paraplegia 30, autosomal recessive 10.4 SPG21 KIF1C
10 complex hereditary spastic paraplegia 10.4 SPG7 CYP7B1
11 spastic paraplegia 18, autosomal recessive 10.4 SPG7 SPG21
12 spastic paraplegia 64, autosomal recessive 10.4 SPG7 SPG21
13 spastic paraplegia 54, autosomal recessive 10.4 SPG7 SPG21
14 spastic paraplegia 28, autosomal recessive 10.3 SPG7 CYP7B1
15 spastic paraplegia 5a, autosomal recessive 10.3 SPG7 CYP7B1
16 spastic paraplegia 39, autosomal recessive 10.3 SPG21 CYP7B1
17 conidiobolomycosis 10.3 CYP51A1 CBSL
18 spastic paraplegia 11, autosomal recessive 10.3 SPG7 SPG21
19 tinea cruris 10.3 CYP51A1 CBSL
20 hereditary spastic paraplegia 23 10.3 SPG21 KIF1C CYP7B1
21 spastic paraplegia 46, autosomal recessive 10.3 SPG7 SPG21 KIF1C
22 spastic paraplegia 35, autosomal recessive 10.3 SPG7 SPG21
23 spastic paraplegia 31, autosomal dominant 10.2 SPG7 SPG21 CYP7B1
24 spastic paraplegia 15, autosomal recessive 10.2 SPG7 SPG21 CYP7B1
25 spastic paraplegia 10, autosomal dominant 10.2 SPG7 SPG21
26 spastic paraplegia 4, autosomal dominant 10.2 SPG7 SPG21 CYP7B1
27 spastic paraplegia 76, autosomal recessive 10.2 SPG7 KIF1C CYP7B1
28 spastic paraplegia 2, x-linked 10.2 SPG7 SPG21
29 spastic paraplegia 20, autosomal recessive 10.2 SPG7 SPG21
30 localized chondrosarcoma 10.2 GAS2 GAS1
31 gaucher disease, perinatal lethal 10.1 GAS2 GAS1
32 masa syndrome 9.9 SPG7 SPG21
33 griscelli syndrome, type 1 9.9 GAS2 GAS1
34 alzheimer disease 17 9.8 PLAT AIF1
35 occlusion precerebral artery 9.8 PLAT AIF1
36 carotid artery occlusion 9.6 PLAT AIF1
37 spastic paraplegia 36, autosomal dominant 9.1 STMN4 SPG21 RHAG RBL2 KIF1C GAS2

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

MGI Mouse Phenotypes related to Spastic Paraplegia 24, Autosomal Recessive:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.63 CBSL CYP51A1 GAS1 PLAT RBL2 TCOF1
2 skeleton MP:0005390 9.56 AIF1 CYP51A1 GAS1 PLAT RBL2 SPG7
3 vision/eye MP:0005391 9.23 AIF1 CBSL GAS1 GPHN PLAT RBL2

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

MalaCards organs/tissues related to Spastic Paraplegia 24, Autosomal Recessive:

40
Eye, Bone, Skin

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 sterol metabolic process GO:0016125 8.96 CYP7B1 CYP51A1
2 mitochondrial calcium ion transmembrane transport GO:0006851 8.62 SPG7 SLC8A3

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

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 8.8 CYP7B1 CYP51A1 CBSL

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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