Spastic Paraplegia 24, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Mental diseases Skin diseases Nephrological diseases Ear diseases Gastrointestinal diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Hereditary spastic paraplegia

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

SNOMED-CT via HPO ⁶⁹ 258211005 60700002 221360009 more

UMLS ⁷³ C1843569

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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 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)). Affiliated tissues include skin, bone and eye, and related phenotypes are spasticity and clonus

Description from OMIM: 607584

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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
Spastic Paraplegia Type 49	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	Autosomal Dominant Spastic Paraplegia Type 9b
Autosomal Dominant Spastic Paraplegia Type 9

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

(show all 11)

#	Related Disease	Score	Top Affiliating Genes
1	spastic paraplegia 5a	31.6	CYP7B1 SPG24
2	spastic paraplegia 24	11.4
3	perrault syndrome 1	11.1
4	spastic paraplegia 32, autosomal recessive	9.9	SPG21 SPG7
5	spastic paraplegia 15, autosomal recessive	9.9	SPG21 SPG7
6	spastic paraplegia 11, autosomal recessive	9.9	SPG21 SPG7
7	spinocerebellar ataxia, autosomal recessive 21	9.8	CYP7B1 SPG7
8	spastic paraplegia 73, autosomal dominant	9.8	CYP7B1 SPG7
9	paraplegia	9.7	CYP7B1 SPG21 SPG7
10	hereditary spastic paraplegia	9.7	CYP7B1 SPG21 SPG7
11	spastic paraplegia 76, autosomal recessive	9.7	CYP7B1 SPG7

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

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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	clonus ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002169
3	sensorineural hearing impairment ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000407
4	spastic paraplegia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001258
5	scissor gait ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0012407
6	tip-toe gait ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0030051
7	hyperreflexia ⁵⁹		Very frequent (99-80%)
8	difficulty standing ³²			HP:0003698

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

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

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

⁴¹

Skin, Bone, Eye

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Publications for Spastic Paraplegia 24, Autosomal Recessive

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Genes for Spastic Paraplegia 24, Autosomal Recessive

Genes related to Spastic Paraplegia 24, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SPG24	Spastic Paraplegia 24 (Autosomal Recessive)	Genetic Locus	408.76	Causative germline mutation ⁵⁹ Genetic linkage ⁵⁷ GeneCards inferred via : Gene name (show sections)
2	SPG21	SPG21, Maspardin	Protein Coding	17.14	DISEASES inferred ¹⁵
3	SLC8A3	Solute Carrier Family 8 Member A3	Protein Coding	16.47	DISEASES inferred ¹⁵
4	CYP7B1	Cytochrome P450 Family 7 Subfamily B Member 1	Protein Coding	16.28	DISEASES inferred ¹⁵
5	GPHN	Gephyrin	Protein Coding	16.1	DISEASES inferred ¹⁵
6	SPG7	SPG7, Paraplegin Matrix AAA Peptidase Subunit	Protein Coding	15.49	DISEASES inferred ¹⁵
7	ACRV1	Acrosomal Vesicle Protein 1	Protein Coding	6.28	DISEASES inferred ¹⁵

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Variations for Spastic Paraplegia 24, Autosomal Recessive

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Expression for Spastic Paraplegia 24, Autosomal Recessive

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

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

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Sources for Spastic Paraplegia 24, Autosomal Recessive

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

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¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Spastic Paraplegia 24, Autosomal Recessive (SPG24)

Aliases & Classifications for Spastic Paraplegia 24, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 24, Autosomal Recessive:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Spastic Paraplegia 24, Autosomal Recessive

Related Diseases for Spastic Paraplegia 24, Autosomal Recessive

Diseases in the Spastic Paraplegia 3a family:

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

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

Symptoms & Phenotypes for Spastic Paraplegia 24, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Spastic Paraplegia 24, Autosomal Recessive:

UMLS symptoms related to Spastic Paraplegia 24, Autosomal Recessive:

Drugs & Therapeutics 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:

Publications for Spastic Paraplegia 24, Autosomal Recessive

Genes for Spastic Paraplegia 24, Autosomal Recessive

Genes related to Spastic Paraplegia 24, Autosomal Recessive (1 elite genes):

Variations for Spastic Paraplegia 24, Autosomal Recessive

Expression 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:

Sources for Spastic Paraplegia 24, Autosomal Recessive