Hereditary Spastic Paraplegia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

FSP MCID: HRD010 MIFTS: 67	Hereditary Spastic Paraplegia (FSP) 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
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Aliases & Classifications for Hereditary Spastic Paraplegia

MalaCards integrated aliases for Hereditary Spastic Paraplegia:

Name: Hereditary Spastic Paraplegia ¹² ⁷⁵ ²⁴ ⁵³ ⁵⁴ ⁵⁹ ³⁷ ²⁹ ⁶ ¹⁵ ³⁸ ³³

Hereditary Spastic Paraparesis ¹² ²⁴ ⁵³ ⁵⁹

Familial Spastic Paraplegia ¹² ⁵³ ⁵⁹

Strumpell-Lorrain Disease ¹² ⁷⁵ ⁵⁹

Spastic Paraplegia, Hereditary ⁴⁴ ⁷²

Hsp ⁵³ ⁵⁹

Spg ⁵³ ⁵⁹

Spastic Paraplegia 3, Autosomal Dominant ⁷²

Spastic Paraplegia Hereditary ⁵⁵

Spastic Paraplegia, Familial ⁷⁵

Familial Spastic Paraparesis ⁵³

Strumpell-Lorrain Syndrome ²⁴

French Settlement Disease ¹²

Strümpell-Lorrain Disease ⁵³

Fsp ⁵³

Characteristics:

Orphanet epidemiological data:

⁵⁹

hereditary spastic paraplegia
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (Spain),1-9/100000 (Portugal),1-9/100000 (Worldwide),1-9/100000 (Tunisia),1-9/100000 (Norway),1-9/100000 (Italy),1-9/100000 (Estonia),1-9/100000 (Libyan Arab Jamahiriya); Age of onset: All ages;

Classifications:

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

Disease Ontology ¹² DOID:2476

KEGG ³⁷ H00266

ICD9CM ³⁵ 334.1

MeSH ⁴⁴ D015419

SNOMED-CT ⁶⁸ 39912006 76043009

ICD10 ³³ G11.4

ICD10 via Orphanet ³⁴ G11.4

UMLS via Orphanet ⁷³ C0037773 C2931355

Orphanet ⁵⁹ ORPHA685

UMLS ⁷² C0037773 C2931355

Sources

Summaries for Hereditary Spastic Paraplegia

NINDS : ⁵⁴ Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis (FSP), refers to a group of inherited disorders that are characterized by progressive weakness and spasticity (stiffness) of the legs. Early in the disease course, there may be mild gait difficulties and stiffness. These symptoms typically slowly progress so that eventually individuals with HSP may require the assistance of a cane, walker, or wheelchair. Though the primary features of "pure" HSP are progressive lower limb spasticity and weakness, complicated forms may be accompanied by other symptoms. These additional symptoms include impaired vision due to cataracts and problems with the optic nerve and retina of the eye, ataxia (lack of muscle coordination), epilepsy, cognitive impairment, peripheral neuropathy, and deafness. The diagnosis of HSP is primarily by neurological examination and testing to rule out other disorders. Brain MRI abnormalities, such as a thin corpus callosum, may be seen in some of the complicated forms of HSP. Several genetic mutations have been identified which underlie various forms of HSP, and specialized genetic testing and diagnosis are available at some medical centers. HSP has several forms of inheritance. Not all children in a family will necessarily develop symptoms, although they may be carriers of the abnormal gene. Symptoms may begin in childhood or adulthood, depending on the particular HSP gene involved.

MalaCards based summary : Hereditary Spastic Paraplegia, also known as hereditary spastic paraparesis, is related to spastic paraplegia 2, x-linked and spastic paraplegia 20, autosomal recessive, and has symptoms including urgency of micturition, pain in lower limb and leg cramps. An important gene associated with Hereditary Spastic Paraplegia is SPAST (Spastin), and among its related pathways/superpathways are Endocytosis and Lysosome. The drugs Acetylcholine and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and testes, and related phenotypes are spasticity and gait disturbance

Disease Ontology : ¹² A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.

NIH Rare Diseases : ⁵³ Hereditary spastic paraplegia (HSP) is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons. Upper motor neurons in the brain and spinal cord deliver signals to the lower motor neurons, which in turn, carry messages to the muscles. In hereditary spastic paraplegia, upper motor neurons slowly degenerate so the muscles do not receive the correct messages, causing progressive spasticity (increased muscle tone/stiffness) and weakness of the legs. This leads to difficulty walking. As degeneration continues, symptoms worsen. If only the lower body is affected, HSP is classified as uncomplicated or pure. HSP is classified as complicated or complex if other systems are involved. In these cases, additional symptoms, including impaired vision, ataxia, epilepsy, cognitive impairment, peripheral neuropathy, and/or deafness, occur. The different forms of HSP are caused by mutations in different genes. Inheritance varies. There are no specific treatments to prevent, slow, or reverse HSP. Individual symptoms may be treated with medications and/or physical therapy.

KEGG : ³⁷

Hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive distal limb weakness and lower extremity spasticity.

Wikipedia : ⁷⁵ Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive... more...

GeneReviews: NBK1509

Sources

Related Diseases for Hereditary Spastic Paraplegia

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 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 47
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 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 Hereditary Spastic Paraplegia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 705)

#	Related Disease	Score	Top Affiliating Genes
1	spastic paraplegia 2, x-linked	35.3	ZFYVE27 REEP1 ATL1
2	spastic paraplegia 20, autosomal recessive	35.1	SPG7 SPART
3	spastic paraplegia 3, autosomal dominant	35.0	ZFYVE27 SPG11 SPAST REEP1 NIPA1 ATL1
4	masa syndrome	35.0	SPG11 SPAST SPART REEP1 NIPA1 ATL1
5	spastic paraplegia 4, autosomal dominant	35.0	ZFYVE27 SPG7 SPG11 SPAST REEP1 NIPA1
6	spastic paraplegia 32, autosomal recessive	35.0	SPG7 SPG11 ATL1
7	spastic paraplegia 15, autosomal recessive	35.0	ZFYVE26 SPG7 SPG11
8	spastic paraplegia 18, autosomal recessive	35.0	WASHC5 REEP1 NIPA1
9	spastic paraplegia 5a, autosomal recessive	35.0	CYP7B1 C19orf12
10	spastic paraplegia 61, autosomal recessive	35.0	SPAST REEP1 ATL1
11	spastic paraplegia 31, autosomal dominant	35.0	ZFYVE27 SPG11 SPAST REEP1 ATL1
12	spastic paraplegia 39, autosomal recessive	35.0	ZFYVE26 WASHC5 REEP1
13	spastic paraplegia 13, autosomal dominant	35.0	WASHC5 SPAST HSPD1 ATL1
14	spastic paraplegia 6, autosomal dominant	35.0	SPAST REEP1 NIPA1 KIF5A ATL1
15	spastic paraplegia 42, autosomal dominant	35.0	WASHC5 REEP1 NIPA1
16	spastic paraplegia 8, autosomal dominant	34.9	WASHC5 SPG11 REEP1 NIPA1 ATL1
17	spastic paraplegia 10, autosomal dominant	34.9	ZFYVE27 SPG11 REEP1 KIF5A ATL1
18	spastic paraplegia 30, autosomal recessive	34.9	WASHC5 REEP1 KIF1A
19	spastic paraplegia 49, autosomal recessive	34.9	ZFYVE26 SPG7 SPG11
20	spastic paraplegia 12, autosomal dominant	34.9	ZFYVE27 SPAST REEP1 KIF5A ATL1
21	spastic paraplegia 24, autosomal recessive	34.9	SPG7 CYP7B1
22	spastic paraplegia 73, autosomal dominant	34.9	SPG7 GBA2 CYP7B1
23	spastic paraplegia 43, autosomal recessive	34.8	CYP7B1 C19orf12
24	spastic paraplegia 57, autosomal recessive	34.8	SPG11 ALS2
25	spastic paraplegia 48, autosomal recessive	34.8	ZFYVE26 SPG11
26	spastic paraplegia 46, autosomal recessive	34.7	SPG11 GBA2
27	spastic paraplegia 76, autosomal recessive	34.7	SPG7 GBA2 CYP7B1
28	spastic paraplegia 33, autosomal dominant	34.7	ZFYVE27 SPAST SPART REEP1
29	spastic paraplegia 47, autosomal recessive	34.6	WASHC5 REEP1
30	spastic paraplegia 7, autosomal recessive	34.6	SPG7 AFG3L2
31	spastic paraplegia 35, autosomal recessive	34.5	ZFYVE26 SPG11
32	spastic paraplegia 5a	34.3	GBA2 CYP7B1
33	spasticity	34.1	WASHC5 SPG7 SPAST KIF1A DDHD1
34	spastic paraplegia 10	34.1	SPAST KIF5A
35	paraplegia	32.8	ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG11 SPAST
36	spastic paraparesis	32.7	SPG7 SPG11 SPAST DDHD1
37	lateral sclerosis	32.4	SPG11 KIF5A ALS2
38	primary lateral sclerosis, adult, 1	32.1	SPG7 SPAST ALS2
39	3-methylglutaconic aciduria, type iii	32.1	SPG7 C19orf12 AFG3L2
40	axonal neuropathy	32.0	SPG11 KIF5A C19orf12
41	juvenile amyotrophic lateral sclerosis	31.7	SPG11 C19orf12 ALS2
42	spinocerebellar ataxia 28	30.8	SPG7 AFG3L2
43	hereditary spastic paraplegia 72	12.8
44	hereditary spastic paraplegia 23	12.8
45	hereditary spastic paraplegia 51	12.7
46	pure hereditary spastic paraplegia	12.6
47	complex hereditary spastic paraplegia	12.6
48	pure or complex hereditary spastic paraplegia	12.6
49	ap-4-associated hereditary spastic paraplegia	12.5
50	spastic paraplegia 17, autosomal dominant	12.5

Graphical network of the top 20 diseases related to Hereditary Spastic Paraplegia:

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Symptoms & Phenotypes for Hereditary Spastic Paraplegia

Human phenotypes related to Hereditary Spastic Paraplegia:

⁵⁹ ³² (show all 6)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	spasticity ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001257
2	gait disturbance ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001288
3	impaired pain sensation ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0007328
4	paraplegia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0010550
5	ataxia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001251
6	finger syndactyly ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0006101

UMLS symptoms related to Hereditary Spastic Paraplegia:

urgency of micturition, pain in lower limb, leg cramps

GenomeRNAi Phenotypes related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	9.92	AFG3L2 ALS2 ATL1 C19orf12 CYP7B1 DDHD1

MGI Mouse Phenotypes related to Hereditary Spastic Paraplegia:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.73	AFG3L2 ALS2 ATL1 HSPD1 KIF1A KIF5A
2	nervous system	MP:0003631	9.36	AFG3L2 ALS2 HSPD1 KIF1A KIF5A KY

Sources

Drugs & Therapeutics for Hereditary Spastic Paraplegia

Drugs for Hereditary Spastic Paraplegia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Acetylcholine

Approved, Investigational

Phase 2, Phase 3

51-84-3

187

Synonyms:

2-(Acetyloxy)-N,N,N-trimethylethanaminium

Acetilcolina cusi

Acetyl choline ion

Acetylcholine bromide

Acetylcholine cation

acetylcholine chloride

Acetylcholine chloride

Acetylcholine fluoride

Acetylcholine hydroxide

Acetylcholine iodide

Acetylcholine L tartrate

Acetylcholine L-tartrate

Acetylcholine perchlorate

Acetylcholine picrate

Acetylcholine picrate (1:1)

Acetylcholine sulfate (1:1)

Acetylcholinium: acetyl-choline

ACh

Alcon brand OF acetylcholine chloride

Azetylcholin

Bournonville brand OF acetylcholine chloride

Bromide, acetylcholine

Bromoacetylcholine

Chloroacetylcholine

Choline acetate

Choline acetate (ester)

Choline acetic acid

Ciba vision brand OF acetylcholine chloride

Cusi, acetilcolina

Fluoride, acetylcholine

Hydroxide, acetylcholine

Iodide, acetylcholine

Iolab brand OF acetylcholine chloride

L-Tartrate, acetylcholine

Miochol

O-Acetylcholine

Perchlorate, acetylcholine

Cholinergic Agents

Phase 2, Phase 3

Neurotransmitter Agents

Phase 2, Phase 3

Acetylcholine Release Inhibitors

Phase 2, Phase 3

Botulinum Toxins

Phase 2, Phase 3

Resveratrol

Approved, Experimental, Investigational

Phase 2

501-36-0

445154

Synonyms:

(e)-5-(2-(4-Hydroxyphenyl)ethenyl)-1,3-benzenediol

(E)-5-(2-(4-hydroxyphenyl)ethenyl)-1,3-benzenediol(E)-5-(2-(4-hydroxyphenyl)ethenyl)-1,3-benzenediol

(e)-Resveratrol

(E)-resveratrol

3,4',5-Stilbenetriol

3,4',5-trihydroxystilbene

3,4',5-Trihydroxystilbene

3,4',5-trihydroxy-trans-stilbene

3,4',5-Trihydroxy-trans-stilbene

3,5,4'-trihydroxystilbene

3,5,4'-Trihydroxystilbene

5-[(e)-2-(4-Hydroxyphenyl)vinyl]benzene-1,3-diol

5-[(E)-2-(4-hydroxyphenyl)vinyl]benzene-1,3-diol

cis-Resveratrol

Resveratrol-3-sulfate

SRT 501

SRT-501

trans-3,4',5 - Trihydroxystilbene

trans-resveratrol

trans-Resveratrol

chenodeoxycholic acid

Approved

Phase 2

474-25-9

10133

Synonyms:

(+)-Chenodeoxycholate

(+)-Chenodeoxycholic acid

(3a,5b,7a)-3,7-Dihydroxy-cholan-24-Oate

(3a,5b,7a)-3,7-Dihydroxy-cholan-24-Oic acid

3a,7a-Dihydroxy-5b,14a,17b-cholanate

3a,7a-Dihydroxy-5b,14a,17b-cholanic acid

3a,7a-Dihydroxy-5b-cholan-24-Oate

3a,7a-Dihydroxy-5b-cholan-24-Oic acid

3a,7a-Dihydroxy-5b-cholanate

3a,7a-Dihydroxy-5b-cholanic acid

3alpha,7alpha-Dihydroxy-5beta-cholanate

3alpha,7alpha-Dihydroxy-5beta-cholanic acid

3α,7α-dihydroxy-5β-cholanate

3α,7α-dihydroxy-5β-cholanic acid

7a-Hydroxy-desoxycholsaeure

7a-Hydroxylithocholate

7a-Hydroxylithocholic acid

7alpha-Hydroxylithocholate

7alpha-Hydroxylithocholic acid

7α-hydroxylithocholate

7α-hydroxylithocholic acid

Acid, chenic

Acid, chenique

Acid, chenodeoxycholic

Acid, gallodesoxycholic

Acide chenodeoxycholique

Acido chenodeoxicholico

Acidum chenodeoxycholicum

Anthropodeoxycholate

Anthropodeoxycholic acid

Anthropodesoxycholate

Anthropodesoxycholic acid

Antigen brand OF chenodeoxycholic acid

CDCA

Chenate

Chenic acid

Chenique acid

Chenix

Chenocholic acid

Chenodeoxycholate

Chenodeoxycholate, sodium

Chenodeoxycholic acid

Chenodesoxycholic acid

Chenodesoxycholsaeure

Chenodiol

Chenofalk

Chenophalk

Estedi brand OF chenodeoxycholic acid

Falk brand OF chenodeoxycholic acid

Gallodesoxycholate

Gallodesoxycholic acid

Henohol

Quenobilan

Quenocol

Sodium chenodeoxycholate

Solvay brand OF chenodeoxycholic acid

tramedico Brand OF chenodeoxycholic acid

Zambon brand OF chenodeoxycholic acid

Atorvastatin

Approved

Phase 2

134523-00-5

60823

Synonyms:

(3R,5R)-7-[2-(4-fluorophenyl)-3-phenyl-4-(phenylcarbamoyl)-5-propan-2-ylpyrrol-1-yl]-3,5-dihydroxyheptanoic acid

(3R,5R)-7-[3-(anilinocarbonyl)-5-(4-fluorophenyl)-2-isopropyl-4-phenyl-1H-pyrrol-1-yl]-3,5-dihydroxyheptanoic acid

(betaR,deltaR)-2-(p-Fluorophenyl)-beta,delta-dihydroxy-5-isopropyl-3-phenyl-4-(phenylcarbamoyl)pyrrole-1-heptanoic acid

(R-(R*,r*))-2-(4-fluorophenyl)-b,delta-dihydroxy-5-(1-methylethyl)-3-phenyl-4-((phenylamino)carbonyl)-1H-pyrrole-1-heptanoate

(R-(R*,r*))-2-(4-fluorophenyl)-b,delta-dihydroxy-5-(1-methylethyl)-3-phenyl-4-((phenylamino)carbonyl)-1H-pyrrole-1-heptanoic acid

(R-(R*,r*))-2-(4-fluorophenyl)-b,δ-dihydroxy-5-(1-methylethyl)-3-phenyl-4-((phenylamino)carbonyl)-1H-pyrrole-1-heptanoate

(R-(R*,r*))-2-(4-fluorophenyl)-b,δ-dihydroxy-5-(1-methylethyl)-3-phenyl-4-((phenylamino)carbonyl)-1H-pyrrole-1-heptanoic acid

(R-(R*,r*))-2-(4-fluorophenyl)-beta,delta-dihydroxy-5-(1-methylethyl)-3-phenyl-4-((phenylamino)carbonyl)-1H-pyrrole-1-heptanoate

(R-(R*,r*))-2-(4-fluorophenyl)-beta,delta-dihydroxy-5-(1-methylethyl)-3-phenyl-4-((phenylamino)carbonyl)-1H-pyrrole-1-heptanoic acid

(R-(R*,R*))-2-(4-Fluorophenyl)-beta,delta-dihydroxy-5-(1-methylethyl)-3-phenyl-4-((phenylamino)carbonyl)-1H-pyrrole-1-heptanoic acid

(R-(R*,r*))-2-(4-fluorophenyl)-β,δ-dihydroxy-5-(1-methylethyl)-3-phenyl-4-((phenylamino)carbonyl)-1H-pyrrole-1-heptanoate

(R-(R*,r*))-2-(4-fluorophenyl)-β,δ-dihydroxy-5-(1-methylethyl)-3-phenyl-4-((phenylamino)carbonyl)-1H-pyrrole-1-heptanoic acid

134523-00-5

134523-03-8

7-[2-(4-FLUORO-PHENYL)-5-ISOPROPYL-3-PHENYL-4-PHENYLCARBAMOYL-PYRROL-1-YL]- 3,5-DIHYDROXY-HEPTANOIC ACID

7-[2-(4-fluoro-PHENYL)-5-isopropyl-3-phenyl-4-phenylcarbamoyl-pyrrol-1-yl]-3,5-dihydroxy-heptanoate

7-[2-(4-fluoro-PHENYL)-5-isopropyl-3-phenyl-4-phenylcarbamoyl-pyrrol-1-yl]-3,5-dihydroxy-heptanoIC ACID

AC-15611

AC1L1TZT

AC1Q1OZQ

AKOS000281127

Anhydrous, atorvastatin calcium

Atogal

Atorlip

Atorpic

atorvastatin

Atorvastatin

Atorvastatin (INN)

Atorvastatin [INN:BAN]

Atorvastatin acid

Atorvastatin calcium

Atorvastatin calcium anhydrous

Atorvastatin calcium hydrate

Atorvastatin calcium trihydrate

Atorvastatin, calcium salt

atorvastatina

Atorvastatina

atorvastatine

Atorvastatine

atorvastatinium

atorvastatinum

Atorvastatinum

atrovastin

BIDD:GT0336

C06834

C33H35FN2O5

Calcium anhydrous, atorvastatin

Calcium hydrate, atorvastatin

Calcium salt atorvastatin

Calcium trihydrate, atorvastatin

Calcium, atorvastatin

Cardyl

CCRIS 7159

CHEBI:39548

CHEMBL1487

CI 981

CID60823

D07474

DB01076

Faboxim

Hipolixan

HSDB 7039

Hydrate, atorvastatin calcium

Lipitor

Lipitor (TN)

Lipitor(TM)

Lipotropic

Lipovastatinklonal

Liprimar

Liptonorm

Lowden

LS-136975

MolPort-000-883-773

NCGC00159458-02

nchembio.301-comp8

Normalip

Sincol

Sortis

Sortis (TN)

Sotis

Torvacard

Torvast

Totalip

Tozalip

Trihydrate, atorvastatin calcium

Tulip

UNII-A0JWA85V8F

Vastina

Xanator

Xarator

Xavator

Zurinel

Analgesics

Phase 2

Antineoplastic Agents, Phytogenic

Phase 2

Gastrointestinal Agents

Phase 2

Cathartics

Phase 2

Lipid Regulating Agents

Phase 2

Anti-Inflammatory Agents, Non-Steroidal

Phase 2

Antioxidants

Phase 2

Analgesics, Non-Narcotic

Phase 2

Peripheral Nervous System Agents

Phase 2

Hydroxymethylglutaryl-CoA Reductase Inhibitors

Phase 2

Protective Agents

Phase 2

Laxatives

Phase 2

Hypolipidemic Agents

Phase 2

Anti-Inflammatory Agents

Phase 2

Platelet Aggregation Inhibitors

Phase 2

Anticholesteremic Agents

Phase 2

Antirheumatic Agents

Phase 2

Antimetabolites

Phase 2

Interventional clinical trials:

(show all 14)

#	Name	Status	NCT ID	Phase	Drugs
1	Botulinum Toxin in Patients With Hereditary Spastic Paraplegia: a Randomized, Double-blind, Placebo-controlled, Crossover Study	Completed	NCT02604186	Phase 2, Phase 3
2	Therapeutic Metabolic Intervention in Patients With Spastic Paraplegia SPG5	Completed	NCT02314208	Phase 2	Xenbilox;Tahor
3	Design and Validation of a Modular Physiotherapy Concept for the Treatment of Hereditary Spastic Spinal Paralysis (HSP) - a Randomized Study	Completed	NCT03961906	Phase 2
4	A Pilot Study of Repetitive Transcranial Magnetic Stimulation for Improvement of Gait in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy	Completed	NCT03627416
5	Studying Cognition in SPG4 Compared to Healthy Controls	Completed	NCT03104088
6	Disease Natural History and Biomarkers of SPG3A, SPG4 and SPG31	Recruiting	NCT02859428
7	Phenotype, Genotype & Biomarkers in ALS and Related Disorders	Recruiting	NCT02327845
8	Studying the Presymptomatic and Early Phase of SPG4	Recruiting	NCT03206190
9	Clinical and Molecular Manifestations of Neuromuscular and Neurogenetic Disorders of Childhood	Recruiting	NCT01568658
10	Studying Non-motor Symptoms in Patients With Hereditary Spastic Paraplegia (HSP) Compared to Healthy Controls	Recruiting	NCT03204773
11	Coordination of Rare Diseases at Sanford	Recruiting	NCT01793168
12	A Patient Centric Motor Neuron Disease Activities of Daily Living Scale	Enrolling by invitation	NCT02852278
13	Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders	Not yet recruiting	NCT03981276
14	Investigating the Role of SPG20,STK31 Genes in the Carcinogenesis of Colorectal Cancer	Not yet recruiting	NCT03261752

Search NIH Clinical Center for Hereditary Spastic Paraplegia

Cochrane evidence based reviews: spastic paraplegia, hereditary

Sources

Genetic Tests for Hereditary Spastic Paraplegia

Genetic tests related to Hereditary Spastic Paraplegia:

#	Genetic test	Affiliating Genes
1	Hereditary Spastic Paraplegia ²⁹

Sources

Anatomical Context for Hereditary Spastic Paraplegia

MalaCards organs/tissues related to Hereditary Spastic Paraplegia:

⁴¹

Brain, Spinal Cord, Testes, Eye, Retina, Cortex, Bone

Sources

Publications for Hereditary Spastic Paraplegia

Articles related to Hereditary Spastic Paraplegia:

(show top 50) (show all 1492)

#	Title	Authors	PMID	Year
1	A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. ⁹ ³⁸ ⁴	Arnoldi A...Bassi MT	18200586	2008
2	Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia. ⁹ ³⁸ ⁴	Blair MA...Hedera P	16489470	2006
3	De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy. ⁹ ³⁸ ⁴	Rainier S...Fink JK	16533974	2006
4	Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation. ⁹ ³⁸ ⁴	Nielsen JE...Sorensen SA	15667412	2004
5	SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. ⁹ ³⁸ ⁴	Patel H...Crosby AH	12134148	2002
6	A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia. ³⁸ ⁴	Rydning SL...Kamm C	29528531	2018
7	Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia. ³⁸ ⁴	Coarelli G...Ristori G	29524657	2018
8	ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree. ³⁸ ⁴	Tunca C...Basak AN	29453415	2018
9	ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia. ³⁸ ⁴	Cooper HM...Tyynismaa H	28158749	2017
10	NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup. ³⁸ ⁴	Elsaid MF...Abdel Aleem A	28327087	2017
11	ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia. ³⁸ ⁴	Musacchio T...Klebe S	27738760	2017
12	Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia. ³⁸ ⁴	Schubert SF...Dekomien G	26714052	2016
13	Hereditary and metabolic myelopathies. ³⁸ ⁴	Hedera P	27430441	2016
14	Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene. ³⁸ ⁴	Bayrakli F...Ziyal I	26423925	2015
15	Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2. ³⁸ ⁴	Sambuughin N...Toro C	26517984	2015
16	Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. ³⁸ ⁴	Coutelier M...Stevanin G	26026163	2015
17	Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia. ³⁸ ⁴	Kancheva D...Jordanova A	25772097	2015
18	Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia. ³⁸ ⁴	Lossos A...Lill R	25609768	2015
19	A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother. ³⁸ ⁴	Aulitzky A...Volk AE	25315759	2014
20	Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. ³⁸ ⁴	Crow YJ...Rice GI	25243380	2014
21	Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. ³⁸ ⁴	Liu YT...Houlden H	25008398	2014
22	Motor protein mutations cause a new form of hereditary spastic paraplegia. ³⁸ ⁴	Caballero Oteyza A...Schule R	24808017	2014
23	Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses. ³⁸ ⁴	Ishiura H...Tsuji S	24451228	2014
24	Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia. ³⁸ ⁴	Esteves T...Darios F	24388663	2014
25	KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. ³⁸ ⁴	Dor T...Edvardson S	24319291	2014
26	PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. ³⁸ ⁴	Synofzik M...Zuchner S	24355708	2014
27	Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis. ³⁸ ⁴	Harlalka GV...Crosby AH	24103911	2013
28	Recurrent de novo c.316G>A mutation in NIPA1 hotspot. ³⁸ ⁴	Hedera P	24075313	2013
29	Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. ³⁸ ⁴	Landoure G...Burnett BG	23857908	2013
30	Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. ³⁸ ⁴	Boukhris A...Stevanin G	23746551	2013
31	Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. ³⁸ ⁴	Oates EC...Reilly MM	23664120	2013
32	Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. ³⁸ ⁴	Oz-Levi D...Lancet D	23176824	2012
33	Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. ³⁸ ⁴	Tesson C...Stevanin G	23176821	2012
34	Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. ³⁸ ⁴	Schuurs-Hoeijmakers JH...de Brouwer AP	23176823	2012
35	Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . ³⁸ ⁴	Bauer P...Schols L	22290197	2012
36	Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. ³⁸ ⁴	Montenegro G...Zuchner S	22232211	2012
37	A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18). ³⁸ ⁴	Alazami AM...Alkuraya FS	21796390	2011
38	NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy. ³⁸ ⁴	Svenstrup K...Nielsen JE	21599812	2011
39	Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1. ³⁸ ⁴	Du J...Shen L	21419568	2011
40	Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism. ³⁸ ⁴	Guidubaldi A...Bentivoglio AR	21381113	2011
41	Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation. ³⁸ ⁴	Verny C...Procaccio V	20656066	2011
42	A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia. ³⁸ ⁴	Slabicki M...Buchholz F	20613862	2010
43	Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). ³⁸ ⁴	Dick KJ...Crosby AH	20104589	2010
44	Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence. ³⁸ ⁴	Murphy S...Hutchinson M	19652142	2009
45	CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. ³⁸ ⁴	Goizet C...Stevanin G	19439420	2009
46	New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP). ³⁸ ⁴	Hewamadduma C...Shaw P	19034539	2009
47	Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. ³⁸ ⁴	Orthmann-Murphy JL...Pareyson D	19056803	2009
48	Forceps minor region signal abnormality "ears of the lynx": an early MRI finding in spastic paraparesis with thin corpus callosum and mutations in the spatacsin gene (SPG11) on chromosome 15. ³⁸ ⁴	Riverol M...Masdeu JC	19040626	2009
49	SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia. ³⁸ ⁴	Paisan-Ruiz C...Singleton A	18337587	2008
50	Hereditary spastic paraplegia 3A associated with axonal neuropathy. ³⁸ ⁴	Ivanova N...De Jonghe P	17502470	2007

Sources

Genes for Hereditary Spastic Paraplegia

Genes related to Hereditary Spastic Paraplegia (11 elite genes):

(show top 50) (show all 72)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SPAST	Spastin	Protein Coding	450.79	Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Variants (show sections)	16009377 12676568 18701882 (more) 18202664 14732620 18410514 17895902 16026783 18190593 15823537 16684598 16682546 15242610 16476945 15891913 11039577 19619244 19494379 18613979 17868079 16476820 15667412 15210518 12552568 11843700 11087788 19875132 19141076 18644145 17916079 17598600 19714378 19620182 15716377 17531954 16009769 17598599 17425157 17560499 17389232 15637712 16815977 12490534 19039240 16832076 19453301 19423133 10980739 11377972
2	SPG7	SPG7 Matrix AAA Peptidase Subunit, Paraplegin	Protein Coding	448.01	Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Variants (show sections)	18200586 16534102 19841671 (more) 11377972 19289403 14985266 20186691 10480368 16357941 14623864 19625515 18563470 16239134
3	KIF5A	Kinesin Family Member 5A	Protein Coding	447.04	Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Variants (show sections)	16476820 16489470
4	NIPA1	NIPA Magnesium Transporter 1	Protein Coding	446.66	Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Variants (show sections)	16267846 19738379
5	CYP7B1	Cytochrome P450 Family 7 Subfamily B Member 1	Protein Coding	444.35	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries Variants (show sections)
6	SPG11	SPG11 Vesicle Trafficking Associated, Spatacsin	Protein Coding	437.26	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
7	ZFYVE26	Zinc Finger FYVE-Type Containing 26	Protein Coding	434.99	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
8	GBA2	Glucosylceramidase Beta 2	Protein Coding	433.67	Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
9	KIF1A	Kinesin Family Member 1A	Protein Coding	423.44	Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
10	C19orf12	Chromosome 19 Open Reading Frame 12	Protein Coding	421.42	Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
11	KY	Kyphoscoliosis Peptidase	Protein Coding	415.76	Pathogenic ⁶ GeneCards inferred via : Publications Variants (show sections)
12	ALS2	Alsin Rho Guanine Nucleotide Exchange Factor ALS2	Protein Coding	43.48	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Variants (show sections)	16670179 14676054 12837691 (more) 12919135
13	ATL1	Atlastin GTPase 1	Protein Coding	39.51	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	16533974 15477516 19423133 (more) 12939451 17030474 19633650 16009769 18644145 17427918 16815977 19494379 17380240 16476820
14	SPART	Spartin	Protein Coding	37.74	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	12676568 16781711 19765186 (more) 12134148 16945107 19620182
15	HSPD1	Heat Shock Protein Family D (Hsp60) Member 1	Protein Coding	37.01	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Variants (show sections)	19423133 18400758 18378094
16	REEP1	Receptor Accessory Protein 1	Protein Coding	35.57	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
17	WASHC5	WASH Complex Subunit 5	Protein Coding	35.45	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
18	ZFYVE27	Zinc Finger FYVE-Type Containing 27	Protein Coding	34.48	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
19	AFG3L2	AFG3 Like Matrix AAA Peptidase Subunit 2	Protein Coding	34.31	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
20	DDHD1	DDHD Domain Containing 1	Protein Coding	34.15	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
21	AP5Z1	Adaptor Related Protein Complex 5 Subunit Zeta 1	Protein Coding	34.04	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
22	KIF1C	Kinesin Family Member 1C	Protein Coding	33.51	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
23	BSCL2	BSCL2 Lipid Droplet Biogenesis Associated, Seipin	Protein Coding	33.46	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
24	PLP1	Proteolipid Protein 1	Protein Coding	23	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	7643352 19955111
25	ERLIN2	ER Lipid Raft Associated 2	Protein Coding	22.94	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
26	BICD2	BICD Cargo Adaptor 2	Protein Coding	22.7	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
27	AP4B1	Adaptor Related Protein Complex 4 Subunit Beta 1	Protein Coding	22.66	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
28	AP5B1	Adaptor Related Protein Complex 5 Subunit Beta 1	Protein Coding	22.37	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
29	SACS	Sacsin Molecular Chaperone	Protein Coding	22.1	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
30	AP4M1	Adaptor Related Protein Complex 4 Subunit Mu 1	Protein Coding	21.6	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
31	AMPD2	Adenosine Monophosphate Deaminase 2	Protein Coding	20.72	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
32	CCT5	Chaperonin Containing TCP1 Subunit 5	Protein Coding	19.18	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
33	SLC16A2	Solute Carrier Family 16 Member 2	Protein Coding	19.17	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
34	USP8	Ubiquitin Specific Peptidase 8	Protein Coding	17.78	GeneCards inferred via : Publications Variants (show sections)
35	KATNB1	Katanin Regulatory Subunit B1	Protein Coding	17.1	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	18202664
36	LONP1	Lon Peptidase 1, Mitochondrial	Protein Coding	16.97	GeneCards inferred via : Publications Summaries (show sections)
37	DNAH8	Dynein Axonemal Heavy Chain 8	Protein Coding	16.91	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	19619244 18410514
38	GAD1	Glutamate Decarboxylase 1	Protein Coding	15.76	GeneCards inferred via : Publications Variants (show sections)
39	MARS1	Methionyl-TRNA Synthetase 1	Protein Coding	15.76	GeneCards inferred via : Publications Variants (show sections)
40	WDR48	WD Repeat Domain 48	Protein Coding	15.76	GeneCards inferred via : Publications Variants (show sections)
41	FA2H	Fatty Acid 2-Hydroxylase	Protein Coding	15.3	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
42	DDHD2	DDHD Domain Containing 2	Protein Coding	15.2	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
43	SPG21	SPG21 Abhydrolase Domain Containing, Maspardin	Protein Coding	15.11	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
44	L1CAM	L1 Cell Adhesion Molecule	Protein Coding	14.71	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
45	CYP2U1	Cytochrome P450 Family 2 Subfamily U Member 1	Protein Coding	14.62	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
46	RTN2	Reticulon 2	Protein Coding	14.41	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
47	ALDH18A1	Aldehyde Dehydrogenase 18 Family Member A1	Protein Coding	14.14	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
48	SLC33A1	Solute Carrier Family 33 Member 1	Protein Coding	13.99	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
49	TECPR2	Tectonin Beta-Propeller Repeat Containing 2	Protein Coding	13.87	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
50	PNPLA6	Patatin Like Phospholipase Domain Containing 6	Protein Coding	13.87	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)

Sources

Variations for Hereditary Spastic Paraplegia

ClinVar genetic disease variations for Hereditary Spastic Paraplegia:

⁶ (show top 50) (show all 96)

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	KIF5A	NM_004984.4(KIF5A): c.610C> T (p.Arg204Trp)	single nucleotide variant	Pathogenic	rs1555177629	12:57961297-57961297	12:57567514-57567514
2	KY	NM_178554.6(KY): c.51_52insTATCGACATGTGCTGTATCTATCGACAT (p.Val18fs)	insertion	Pathogenic	rs1085307110	3:134369751-134369752	3:134650909-134650910
3	ZFYVE26	NM_015346.4(ZFYVE26): c.6296dup (p.Asn2100fs)	duplication	Pathogenic	rs1555394376	14:68228993-68228993	14:67762276-67762276
4	SPG11	NM_025137.3(SPG11): c.(2244+1_2245-1)_(2620+1_2621-1)del	deletion	Pathogenic
5	SPG11	NM_025137.4(SPG11): c.733_734del (p.Met245fs)	deletion	Pathogenic	rs312262720	15:44949428-44949429	15:44657230-44657231
6	NIPA1	NM_144599.5(NIPA1): c.316G> A (p.Gly106Arg)	single nucleotide variant	Pathogenic	rs104894490	15:23060816-23060816	15:22812252-22812252
7	CYP7B1	NM_004820.5(CYP7B1): c.825T> A (p.Tyr275Ter)	single nucleotide variant	Pathogenic	rs121908613	8:65528273-65528273	8:64615716-64615716
8	CYP7B1	NM_004820.5(CYP7B1): c.914dup (p.Met305fs)	duplication	Pathogenic	rs1554524697	8:65527726-65527726	8:64615169-64615169
9	SPAST	NM_014946.3(SPAST): c.1133T> A (p.Leu378Gln)	single nucleotide variant	Pathogenic	rs1553316816	2:32352051-32352051	2:32126982-32126982
10	SPG7	NM_003119.4(SPG7): c.1447C> T (p.Gln483Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs562890289	16:89611178-89611178	16:89544770-89544770
11	C19orf12	NM_001256047.1(C19orf12): c.124G> A (p.Gly42Arg)	single nucleotide variant	Pathogenic/Likely pathogenic	rs200133991	19:30199197-30199197	19:29708290-29708290
12	GBA2	NM_020944.3(GBA2): c.1888C> T (p.Arg630Trp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs398123012	9:35738808-35738808	9:35738811-35738811
13	GBA2	NM_020944.3(GBA2): c.2618G> A (p.Arg873His)	single nucleotide variant	Pathogenic/Likely pathogenic	rs398123015	9:35737332-35737332	9:35737335-35737335
14	KIF1A	NM_004321.7(KIF1A): c.206C> T (p.Ser69Leu)	single nucleotide variant	Pathogenic/Likely pathogenic	rs786200949	2:241727625-241727625	2:240788208-240788208
15	SPG7	NM_003119.4(SPG7): c.376G> C (p.Glu126Gln)	single nucleotide variant	Pathogenic/Likely pathogenic	rs912983346	16:89579445-89579445	16:89513037-89513037
16	SPG7	NM_003119.3(SPG7): c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)	deletion	Pathogenic/Likely pathogenic	rs768823392	16:89613070-89613078	16:89546662-89546670
17	KIF5A	NM_004984.4(KIF5A): c.833C> T (p.Pro278Leu)	single nucleotide variant	Likely pathogenic	rs1555177824	12:57963052-57963052	12:57569269-57569269
18	KIF5A	NM_004984.4(KIF5A): c.868G> C (p.Asp290His)	single nucleotide variant	Likely pathogenic	rs1555177831	12:57963087-57963087	12:57569304-57569304
19	DDHD2	NM_015214.2(DDHD2): c.1249_1891del	deletion	Likely pathogenic
20	ERLIN2	NM_007175.8(ERLIN2): c.899A> T (p.Asp300Val)	single nucleotide variant	Likely pathogenic	rs763958615	8:37611512-37611512	8:37753994-37753994
21	REEP1	NM_001164731.2(REEP1): c.25-18176G> C	single nucleotide variant	Likely pathogenic	rs1266102026	2:86509340-86509340	2:86282217-86282217
22	KIF1A	NM_004321.7(KIF1A): c.31C> T (p.Arg11Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs548204329	2:241737139-241737139	2:240797722-240797722
23	SACS	NM_014363.6(SACS): c.5629C> T (p.Arg1877Ter)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs761089024	13:23912386-23912386	13:23338247-23338247
24	SETX	NM_015046.7(SETX): c.3229G> A (p.Asp1077Asn)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs145097270	9:135203756-135203756	9:132328369-132328369
25	NIPA1	NM_144599.5(NIPA1): c.24_26GGC[10] (p.Ala15_Ala16dup)	short repeat	Conflicting interpretations of pathogenicity	rs531550505	15:23086365-23086370	15:22786698-22786703
26	SACS	NM_014363.6(SACS): c.13717A> C (p.Asn4573His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs34382952	13:23904298-23904298	13:23330159-23330159
27	KIF1C	NM_006612.6(KIF1C): c.2734C> T (p.Arg912Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs202232792	17:4926868-4926868	17:5023573-5023573
28	SPG7	NM_003119.4(SPG7): c.1529C> T (p.Ala510Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs61755320	16:89613145-89613145	16:89546737-89546737
29	SPG11	NM_025137.4(SPG11): c.3818A> G (p.Lys1273Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs76389165	15:44890903-44890903	15:44598705-44598705
30	BICD2	NM_001003800.2(BICD2): c.269A> G (p.Lys90Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs61754130	9:95491490-95491490	9:92729208-92729208
31	SACS	NM_014363.6(SACS): c.1373C> T (p.Thr458Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs61729954	13:23929378-23929378	13:23355239-23355239
32	KIF1C	NM_006612.6(KIF1C): c.1111G> A (p.Ala371Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142056835	17:4908241-4908241	17:5004946-5004946
33	KIF1C	NM_006612.6(KIF1C): c.2299G> A (p.Gly767Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs118037269	17:4925675-4925675	17:5022380-5022380
34	CYP7B1	NM_004820.5(CYP7B1): c.1456C> T (p.Arg486Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs116171274	8:65509264-65509264	8:64596707-64596707
35	KIF5A	NM_004984.4(KIF5A): c.839G> A (p.Arg280His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs387907288	12:57963058-57963058	12:57569275-57569275
36	MAG	NM_080600.2(MAG): c.452C> T (p.Ala151Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144553163	19:35790493-35790493	19:35299590-35299590
37	MAG	NM_080600.2(MAG): c.1117A> C (p.Ser373Arg)	single nucleotide variant	Uncertain significance	rs142375870	19:35793497-35793497	19:35302594-35302594
38	MAG	NM_080600.2(MAG): c.1646C> T (p.Ser549Leu)	single nucleotide variant	Uncertain significance	rs767886169	19:35802850-35802850	19:35311947-35311947
39	SLC16A2	NM_006517.5(SLC16A2): c.377C> A (p.Ser126Tyr)	single nucleotide variant	Uncertain significance	rs1555979601	X:73641849-73641849	X:74422014-74422014
40	USP8	NM_001128610.3(USP8): c.1084A> G (p.Ile362Val)	single nucleotide variant	Uncertain significance	rs768800460	15:50769562-50769562	15:50477365-50477365
41	USP8	NM_001128610.3(USP8): c.397C> T (p.Arg133Trp)	single nucleotide variant	Uncertain significance	rs202135045	15:50751258-50751258	15:50459061-50459061
42	KIF1C	NM_006612.6(KIF1C): c.2591G> A (p.Arg864His)	single nucleotide variant	Uncertain significance	rs146628704	17:4925967-4925967	17:5022672-5022672
43	SPG7	NM_003119.4(SPG7): c.1442C> T (p.Thr481Met)	single nucleotide variant	Uncertain significance	rs376713807	16:89611173-89611173	16:89544765-89544765
44	ZFYVE26	NM_015346.4(ZFYVE26): c.2183G> A (p.Arg728Gln)	single nucleotide variant	Uncertain significance	rs770927853	14:68264796-68264796	14:67798079-67798079
45	SPG11	NM_025137.4(SPG11): c.2486T> G (p.Val829Gly)	single nucleotide variant	Uncertain significance	rs1555455561	15:44914091-44914091	15:44621893-44621893
46	ALS2	NM_020919.4(ALS2): c.3746T> C (p.Phe1249Ser)	single nucleotide variant	Uncertain significance	rs551822626	2:202582890-202582890	2:201718167-201718167
47	AP5B1	NM_138368.5(AP5B1): c.1201C> T (p.Leu401Phe)	single nucleotide variant	Uncertain significance	rs201041158	11:65546763-65546763	11:65779292-65779292
48	MARS1	NM_004990.4(MARS1): c.-18C> T	single nucleotide variant	Uncertain significance	rs201535531	12:57881856-57881856	12:57488073-57488073
49	KIF5A	NM_004984.4(KIF5A): c.572G> A (p.Arg191His)	single nucleotide variant	Uncertain significance	rs1488871976	12:57960979-57960979	12:57567196-57567196
50	ALS2	NM_020919.4(ALS2): c.3206G> A (p.Gly1069Glu)	single nucleotide variant	Uncertain significance	rs200706696	2:202591249-202591249	2:201726526-201726526

Copy number variations for Hereditary Spastic Paraplegia from CNVD:

⁷

#	CNVD ID	Chromosom	Start	End	Type	Gene Symbol	CNVD Disease
1	144964	2	32142183	32236210	Deletion	SPAST	hereditary spastic paraplegia

Sources

Expression for Hereditary Spastic Paraplegia

Search GEO for disease gene expression data for Hereditary Spastic Paraplegia.

Sources

Pathways for Hereditary Spastic Paraplegia

Pathways related to Hereditary Spastic Paraplegia according to KEGG:

³⁷

#	Name	Kegg Source Accession
1	Endocytosis	hsa04144
2	Lysosome	hsa04142

Pathways related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Endocytosis ³⁷	11.31	ZFYVE27 WASHC5 SPART KIF5A

Sources

GO Terms for Hereditary Spastic Paraplegia

Cellular components related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	endoplasmic reticulum membrane	GO:0005789	9.88	ZFYVE27 SPAST REEP1 GBA2 CYP7B1 ATL1
2	endoplasmic reticulum	GO:0005783	9.86	ZFYVE27 WASHC5 SPAST REEP1 GBA2 CYP7B1
3	neuron projection	GO:0043005	9.8	WASHC5 KIF5A KIF1A ALS2
4	neuronal cell body	GO:0043025	9.78	WASHC5 KIF5A KIF1A ALS2
5	axon	GO:0030424	9.72	ZFYVE27 SPG11 KIF1A ATL1 ALS2
6	early endosome	GO:0005769	9.67	WASHC5 NIPA1 HSPD1 ALS2
7	midbody	GO:0030496	9.63	ZFYVE26 SPAST SPART
8	m-AAA complex	GO:0005745	9.16	SPG7 AFG3L2
9	endoplasmic reticulum tubular network	GO:0071782	9.13	ZFYVE27 REEP1 ATL1
10	axon cytoplasm	GO:1904115	8.92	SPG7 SPAST KIF5A KIF1A
11	cytoplasm	GO:0005737	10.25	ZFYVE27 ZFYVE26 WASHC5 SPG11 SPAST SPART

Biological processes related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrion organization	GO:0007005	9.43	SPG7 HSPD1 AFG3L2
2	mitochondrial calcium ion transmembrane transport	GO:0006851	9.4	SPG7 AFG3L2
3	synaptic vesicle transport	GO:0048489	9.37	SPG11 KIF5A
4	mitochondrial calcium ion homeostasis	GO:0051560	9.32	C19orf12 AFG3L2
5	retrograde neuronal dense core vesicle transport	GO:1990049	9.16	KIF5A KIF1A
6	anterograde axonal transport	GO:0008089	9.13	SPG7 SPAST KIF1A
7	axonogenesis	GO:0007409	8.92	SPAST ATL1 ALS2 AFG3L2

Molecular functions related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ATPase activity	GO:0016887	9.46	SPAST KIF5A KIF1A HSPD1
2	unfolded protein binding	GO:0051082	9.43	SPG7 HSPD1 AFG3L2
3	ATP-dependent microtubule motor activity, plus-end-directed	GO:0008574	9.32	KIF5A KIF1A
4	microtubule binding	GO:0008017	9.26	SPAST REEP1 KIF5A KIF1A
5	hydrolase activity	GO:0016787	9.1	SPG7 KY GBA2 DDHD1 ATL1 AFG3L2

Sources

Sources for Hereditary Spastic Paraplegia

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

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

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 TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Hereditary Spastic Paraplegia (FSP)

Aliases & Classifications for Hereditary Spastic Paraplegia

MalaCards integrated aliases for Hereditary Spastic Paraplegia:

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

Summaries for Hereditary Spastic Paraplegia

Related Diseases for Hereditary Spastic Paraplegia

Diseases in the Spastic Paraplegia 3a family:

Diseases related to Hereditary Spastic Paraplegia via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Hereditary Spastic Paraplegia:

Symptoms & Phenotypes for Hereditary Spastic Paraplegia

Human phenotypes related to Hereditary Spastic Paraplegia:

UMLS symptoms related to Hereditary Spastic Paraplegia:

GenomeRNAi Phenotypes related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Hereditary Spastic Paraplegia:

Drugs & Therapeutics for Hereditary Spastic Paraplegia

Drugs for Hereditary Spastic Paraplegia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Cochrane evidence based reviews: spastic paraplegia, hereditary

Genetic Tests for Hereditary Spastic Paraplegia

Genetic tests related to Hereditary Spastic Paraplegia:

Anatomical Context for Hereditary Spastic Paraplegia

MalaCards organs/tissues related to Hereditary Spastic Paraplegia:

Publications for Hereditary Spastic Paraplegia

Articles related to Hereditary Spastic Paraplegia:

Genes for Hereditary Spastic Paraplegia

Genes related to Hereditary Spastic Paraplegia (11 elite genes):

Variations for Hereditary Spastic Paraplegia

ClinVar genetic disease variations for Hereditary Spastic Paraplegia:

Copy number variations for Hereditary Spastic Paraplegia from CNVD:

Expression for Hereditary Spastic Paraplegia

Pathways for Hereditary Spastic Paraplegia

Pathways related to Hereditary Spastic Paraplegia according to KEGG:

Pathways related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

GO Terms for Hereditary Spastic Paraplegia

Cellular components related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

Biological processes related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

Molecular functions related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

Sources for Hereditary Spastic Paraplegia