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SPG24
MCID: SPS120
MIFTS: 27

Spastic Paraplegia 24, Autosomal Recessive (SPG24)

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
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Aliases & Classifications for Spastic Paraplegia 24, Autosomal Recessive

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MalaCards integrated aliases for Spastic Paraplegia 24, Autosomal Recessive:

Name: Spastic Paraplegia 24, Autosomal Recessive 57 13 71
Spg24 57 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®:

57 (Updated 05-Mar-2021)
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:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Gastrointestinal diseases Skin diseases Respiratory diseases Bone diseases Nephrological diseases Ear diseases Muscle diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110775
OMIM® 57 607584
OMIM Phenotypic Series 57 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
Sources

Summaries for Spastic Paraplegia 24, Autosomal Recessive

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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
Sources

Related Diseases for Spastic Paraplegia 24, Autosomal Recessive

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 hereditary spastic paraplegia 31.2 SPG24 SPG21 KIF1C
2 spastic paraplegia 24 11.4
3 pure hereditary spastic paraplegia 10.9
4 spastic paraplegia 27, autosomal recessive 10.1 SPG21 KIF1C
5 hereditary spastic paraplegia 30 10.1 SPG21 KIF1C
6 hereditary spastic paraplegia 23 10.0 SPG21 KIF1C
7 spastic paraplegia 36, autosomal dominant 10.0 SPG21 KIF1C
8 spastic paraplegia 73, autosomal dominant 10.0 SPG21 KIF1C
9 spastic paraplegia 2, x-linked 10.0 SPG21 DMRTB1
10 spastic paraplegia 46, autosomal recessive 10.0 SPG21 KIF1C
11 spastic paraplegia 45, autosomal recessive 10.0 SPG21 KIF1C
12 spastic paraplegia 4, autosomal dominant 9.9 SPG21 KIF1C
13 hemophagocytic lymphohistiocytosis, familial, 1 9.8 SOHLH2 SOHLH1
14 spastic paraplegia 34, x-linked 9.8 TCEA3 SPG21 DMRTB1
15 galactosemia i 9.7 SOHLH2 SOHLH1

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



Diseases related to Spastic Paraplegia 24, Autosomal Recessive
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Symptoms & Phenotypes for Spastic Paraplegia 24, Autosomal Recessive

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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®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
clonus
difficulty standing
walking on tiptoes
more

Clinical features from OMIM®:

607584 (Updated 05-Mar-2021)

UMLS symptoms related to Spastic Paraplegia 24, Autosomal Recessive:


clonus, difficulty standing, muscle spasticity
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Drugs & Therapeutics for Spastic Paraplegia 24, Autosomal Recessive

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

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Genetic Tests for Spastic Paraplegia 24, Autosomal Recessive

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Anatomical Context for Spastic Paraplegia 24, Autosomal Recessive

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Publications for Spastic Paraplegia 24, Autosomal Recessive

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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. 57
12499481 2002
2
Glycoside hydrolase family 32 is present in Bacillus subtilis phages. 61
26438422 2015
3
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. 61
19439420 2009
4
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families. 61
17661097 2007
5
Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description. 61
17503452 2007
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Variations for Spastic Paraplegia 24, Autosomal Recessive

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Expression for Spastic Paraplegia 24, Autosomal Recessive

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

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GO Terms for Spastic Paraplegia 24, Autosomal Recessive

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

# Name GO ID Score Top Affiliating Genes
1 oogenesis GO:0048477 8.96 SOHLH2 SOHLH1
2 oocyte differentiation GO:0009994 8.62 SOHLH2 SOHLH1
Sources

Sources for Spastic Paraplegia 24, Autosomal Recessive

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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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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