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 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:

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 Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³² ³³

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Hereditary spastic paraplegia

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

SNOMED-CT via HPO ⁶⁸ 192967009 22090007 221360009 more

UMLS ⁷¹ 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 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

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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, 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:

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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

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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

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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	Hodgkinson CA...Bharucha VA	12499481	2002
2	Hereditary Spastic Paraplegia Overview ⁶	Hedera P	20301682	2000
3	Glycoside hydrolase family 32 is present in Bacillus subtilis phages. ⁶¹	Maaroufi H...Levesque RC	26438422	2015
4	CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. ⁶¹	Goizet C...Stevanin G	19439420	2009
5	Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families. ⁶¹	Elleuch N...Stevanin G	17661097	2007
6	Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description. ⁶¹	Klebe S...Stevanin G	17503452	2007

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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	408.61	Causative germline mutation ⁵⁸ Genetic linkage ⁵⁶ GeneCards inferred via : Gene name (show sections)
2	DMRTB1	DMRT Like Family B With Proline Rich C-Terminal 1	Protein Coding	7.17	DISEASES inferred ¹⁵
3	SPG21	SPG21 Abhydrolase Domain Containing, Maspardin	Protein Coding	7.09	DISEASES inferred ¹⁵
4	SOHLH2	Spermatogenesis And Oogenesis Specific Basic Helix-Loop-Helix 2	Protein Coding	6.31	DISEASES inferred ¹⁵
5	KIF1C	Kinesin Family Member 1C	Protein Coding	6.2	DISEASES inferred ¹⁵
6	SOHLH1	Spermatogenesis And Oogenesis Specific Basic Helix-Loop-Helix 1	Protein Coding	6.19	DISEASES inferred ¹⁵
7	TCEA3	Transcription Elongation Factor A3	Protein Coding	6.03	DISEASES inferred ¹⁵
8	ACRV1	Acrosomal Vesicle Protein 1	Protein Coding	5.92	DISEASES inferred ¹⁵
9	SLC8A3	Solute Carrier Family 8 Member A3	Protein Coding	5.82	DISEASES inferred ¹⁵
10	STRA8	Stimulated By Retinoic Acid 8	Protein Coding	5.79	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	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

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Sources for Spastic Paraplegia 24, Autosomal Recessive

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⁴ Cell Signaling Technology

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⁸ Cochrane Library

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²³ GeneHancer via GeneCards

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³² ICD10

³³ ICD10 via Orphanet

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³⁵ IUPHAR

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³⁷ LifeMap

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⁴⁰ MalaCards

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⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

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⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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

Human phenotypes related to Spastic Paraplegia 24, Autosomal Recessive:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Publications for Spastic Paraplegia 24, Autosomal Recessive

Articles related to 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:

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

Sources for Spastic Paraplegia 24, Autosomal Recessive