MCID: SPS120
MIFTS: 28

Spastic Paraplegia 24, Autosomal Recessive

Categories: Neuronal diseases, Rare diseases, Genetic diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic diseases

Aliases & Classifications for Spastic Paraplegia 24, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 24, Autosomal Recessive:

Name: Spastic Paraplegia 24, Autosomal Recessive 57 13 73
Spg24 57 12 59
Autosomal Recessive Spastic Paraplegia Type 24 12 59
Hereditary Spastic Paraplegia 24 12 15
Autosomal Recessive Spastic Paraplegia 24 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic paraplegia type 24
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
early onset (average 1 year)


HPO:

32
spastic paraplegia 24, autosomal recessive:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 607584
Disease Ontology 12 DOID:0110775
ICD10 33 G11.4
Orphanet 59 ORPHA101004
ICD10 via Orphanet 34 G11.4
UMLS via Orphanet 74 C1843569
MedGen 42 C1843569
UMLS 73 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 24 and spastic paraplegia 5a, and has symptoms including clonus, muscle spasticity and difficulty standing. An important gene associated with Spastic Paraplegia 24, Autosomal Recessive is SPG24 (Spastic Paraplegia 24 (Autosomal Recessive)). Related phenotypes are spasticity and spastic paraplegia

Description from OMIM: 607584

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 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 Hereditary Spastic Paraplegia
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 51
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
Autosomal Recessive Spastic Paraplegia Type 68 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

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

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 24 11.3
2 spastic paraplegia 5a 10.1 CYP7B1 SPG24
3 spastic paraplegia 32, autosomal recessive 9.7 SPG21 SPG7
4 spastic paraplegia 15, autosomal recessive 9.6 SPG21 SPG7
5 spastic paraplegia 11, autosomal recessive 9.5 SPG21 SPG7
6 spastic paraplegia 73, autosomal dominant 9.2 CYP7B1 SPG7
7 paraplegia 9.1 CYP7B1 SPG21 SPG7
8 hereditary spastic paraplegia 9.0 CYP7B1 SPG21 SPG7
9 spastic paraplegia 76, autosomal recessive 9.0 CYP7B1 SPG7

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
spasticity
hyperreflexia
clonus
difficulty standing
walking on tiptoes
more

Clinical features from OMIM:

607584

Human phenotypes related to Spastic Paraplegia 24, Autosomal Recessive:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 59 32 Very frequent (99-80%) HP:0001257
2 spastic paraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001258
3 clonus 59 32 hallmark (90%) Very frequent (99-80%) HP:0002169
4 scissor gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0012407
5 tip-toe gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0030051
6 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
7 hyperreflexia 59 Very frequent (99-80%)
8 difficulty standing 32 HP:0003698

UMLS symptoms related to Spastic Paraplegia 24, Autosomal Recessive:


clonus, muscle spasticity, difficulty standing

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

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 mitochondrial calcium ion transmembrane transport GO:0006851 8.62 SLC8A3 SPG7

Sources for Spastic Paraplegia 24, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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