SPG13
MCID: SPS023
MIFTS: 20

Spastic Paraplegia 13 (SPG13)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Spastic Paraplegia 13

MalaCards integrated aliases for Spastic Paraplegia 13:

Name: Spastic Paraplegia 13 20 6
Spastic Paraplegia 13, Autosomal Dominant 70
Paraplegia, Spastic, Type 13 39
Spg13 20

Classifications:



External Ids:

UMLS 70 C1854467

Summaries for Spastic Paraplegia 13

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100994 Definition A rare hereditary spastic paraplegia characterized by progressive spastic paraplegia with pyramidal signs in the lower limbs, decreased vibration sense, and increased reflexes in the upper limbs.

MalaCards based summary : Spastic Paraplegia 13, also known as spastic paraplegia 13, autosomal dominant, is related to spastic paraplegia 13, autosomal dominant and paraplegia, and has symptoms including urgency of micturition and abnormal pyramidal signs. An important gene associated with Spastic Paraplegia 13 is HSPD1 (Heat Shock Protein Family D (Hsp60) Member 1).

Related Diseases for Spastic Paraplegia 13

Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 3, Autosomal Dominant Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 17, Autosomal Dominant Spastic Paraplegia 15, Autosomal Recessive
Spastic Paraplegia 23, Autosomal Recessive Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 20, Autosomal Recessive Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 10, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 13, Autosomal Dominant Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 7, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 25, Autosomal Recessive Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 30, Autosomal Dominant
Spastic Paraplegia 18, Autosomal Recessive Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 36, Autosomal Dominant Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 47, Autosomal Recessive Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 62, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive Spastic Paraplegia 63, Autosomal Recessive
Spastic Paraplegia 73, Autosomal Dominant Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia 75, Autosomal Recessive
Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 77, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive Spastic Paraplegia 80, Autosomal Dominant
Spastic Paraplegia 81, Autosomal Recessive Spastic Paraplegia 82, Autosomal Recessive
Spastic Paraplegia 83, Autosomal Recessive Hereditary Spastic Paraplegia 23
Hereditary Spastic Paraplegia 30 Hereditary Spastic Paraplegia 51
Hereditary Spastic Paraplegia 72 Hereditary Spastic Paraplegia
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 Spastic Paraplegia 10
Spastic Paraplegia 12 Spastic Paraplegia 13
Spastic Paraplegia 14 Spastic Paraplegia 15
Spastic Paraplegia 16 Spastic Paraplegia 17
Spastic Paraplegia 18 Spastic Paraplegia 19
Spastic Paraplegia 24 Spastic Paraplegia 25
Spastic Paraplegia 26 Spastic Paraplegia 29
Spastic Paraplegia 3 Spastic Paraplegia 32
Spastic Paraplegia 39 Spastic Paraplegia 47
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Spastic Paraplegia Type 49 Autosomal Recessive Spastic Paraplegia Type 60
Autosomal Recessive Spastic Paraplegia Type 59 Autosomal Recessive Spastic Paraplegia Type 69
Autosomal Recessive Spastic Paraplegia Type 70 Autosomal Recessive Spastic Paraplegia Type 71
Autosomal Recessive Spastic Paraplegia Type 66 Autosomal Recessive Spastic Paraplegia Type 67
Autosomal Dominant Spastic Paraplegia Type 9b

Diseases related to Spastic Paraplegia 13 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 13, autosomal dominant 11.8
2 paraplegia 10.2
3 hereditary spastic paraplegia 10.1
4 hypomyelinating leukodystrophy 9.9
5 leukodystrophy 9.9
6 pure hereditary spastic paraplegia 9.9

Graphical network of the top 20 diseases related to Spastic Paraplegia 13:



Diseases related to Spastic Paraplegia 13

Symptoms & Phenotypes for Spastic Paraplegia 13

UMLS symptoms related to Spastic Paraplegia 13:


urgency of micturition; abnormal pyramidal signs

Drugs & Therapeutics for Spastic Paraplegia 13

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 13

Genetic Tests for Spastic Paraplegia 13

Anatomical Context for Spastic Paraplegia 13

Publications for Spastic Paraplegia 13

Articles related to Spastic Paraplegia 13:

(show all 19)
# Title Authors PMID Year
1
A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia. 6
17420924 2007
2
Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter. 6
12483302 2003
3
A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34. 6
10677329 2000
4
A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy. 61
33076433 2020
5
A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy. 61
32532876 2020
6
MitCHAP-60 and Hereditary Spastic Paraplegia SPG-13 Arise from an Inactive hsp60 Chaperonin that Fails to Fold the ATP Synthase β-Subunit. 61
31444388 2019
7
Data supporting mitochondrial morphological changes by SPG13-associated HSPD1 mutants. 61
26900593 2016
8
The Hsp60 folding machinery is crucial for manganese superoxide dismutase folding and function. 61
24151936 2014
9
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 61
23897027 2013
10
Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice. 61
23466696 2013
11
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 61
22554690 2012
12
Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia. 61
19423133 2009
13
A novel hereditary spastic paraplegia with dystonia linked to chromosome 2q24-2q31. 61
19006192 2009
14
Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy. 61
18571143 2008
15
The Hsp60-(p.V98I) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo. 61
18400758 2008
16
Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13). 61
18378094 2008
17
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. 61
18364116 2008
18
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. 61
16682546 2006
19
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. 61
11898127 2002

Variations for Spastic Paraplegia 13

ClinVar genetic disease variations for Spastic Paraplegia 13:

6 (show all 43)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HSPD1 NM_002156.5(HSPD1):c.292G>A (p.Val98Ile) SNV Pathogenic 17557 rs66468541 GRCh37: 2:198361999-198361999
GRCh38: 2:197497275-197497275
2 HSPD1 HSPD1, GLN461GLU Variation Pathogenic 561192 GRCh37:
GRCh38:
3 HSPD1 NM_002156.5(HSPD1):c.1607C>T (p.Ala536Val) SNV Likely pathogenic 216941 rs863224878 GRCh37: 2:198351885-198351885
GRCh38: 2:197487161-197487161
4 HSPD1 NM_002156.5(HSPD1):c.859G>A (p.Val287Ile) SNV Uncertain significance 333309 rs886055387 GRCh37: 2:198358058-198358058
GRCh38: 2:197493334-197493334
5 HSPD1 NM_002156.5(HSPD1):c.*384T>A SNV Uncertain significance 333302 rs544314251 GRCh37: 2:198351386-198351386
GRCh38: 2:197486662-197486662
6 HSPD1 NM_002156.5(HSPD1):c.-3+15C>A SNV Uncertain significance 333314 rs59701865 GRCh37: 2:198364491-198364491
GRCh38: 2:197499767-197499767
7 HSPD1 NM_002156.5(HSPD1):c.607-4A>G SNV Uncertain significance 333310 rs886055388 GRCh37: 2:198358978-198358978
GRCh38: 2:197494254-197494254
8 HSPD1 NM_002156.5(HSPD1):c.429T>C (p.Gly143=) SNV Uncertain significance 333311 rs886055389 GRCh37: 2:198360099-198360099
GRCh38: 2:197495375-197495375
9 HSPD1 NM_002156.5(HSPD1):c.*313A>G SNV Uncertain significance 333303 rs563815280 GRCh37: 2:198351457-198351457
GRCh38: 2:197486733-197486733
10 HSPD1 NM_002156.5(HSPD1):c.869+12T>C SNV Uncertain significance 333308 rs781462822 GRCh37: 2:198358036-198358036
GRCh38: 2:197493312-197493312
11 HSPD1 NM_002156.5(HSPD1):c.428-15A>G SNV Uncertain significance 333312 rs769110777 GRCh37: 2:198360115-198360115
GRCh38: 2:197495391-197495391
12 HSPD1 NM_002156.5(HSPD1):c.870-3C>T SNV Uncertain significance 631513 rs1559301137 GRCh37: 2:198355023-198355023
GRCh38: 2:197490299-197490299
13 HSPD1 NM_002156.5(HSPD1):c.*459T>G SNV Uncertain significance 895688 GRCh37: 2:198351311-198351311
GRCh38: 2:197486587-197486587
14 HSPD1 NM_002156.5(HSPD1):c.175-8T>C SNV Uncertain significance 895766 GRCh37: 2:198362124-198362124
GRCh38: 2:197497400-197497400
15 HSPD1 NM_002156.5(HSPD1):c.145G>C (p.Asp49His) SNV Uncertain significance 895767 GRCh37: 2:198363428-198363428
GRCh38: 2:197498704-197498704
16 HSPD1 NM_002156.5(HSPD1):c.*121T>C SNV Uncertain significance 895969 GRCh37: 2:198351649-198351649
GRCh38: 2:197486925-197486925
17 HSPD1 NM_002156.5(HSPD1):c.*454T>G SNV Uncertain significance 333301 rs886055384 GRCh37: 2:198351316-198351316
GRCh38: 2:197486592-197486592
18 HSPD1 NM_002156.5(HSPD1):c.*56G>A SNV Uncertain significance 333304 rs886055385 GRCh37: 2:198351714-198351714
GRCh38: 2:197486990-197486990
19 HSPD1 NM_002156.5(HSPD1):c.1388T>C (p.Ile463Thr) SNV Uncertain significance 895971 GRCh37: 2:198353043-198353043
GRCh38: 2:197488319-197488319
20 HSPD1 NM_002156.5(HSPD1):c.-13C>T SNV Uncertain significance 896048 GRCh37: 2:198364516-198364516
GRCh38: 2:197499792-197499792
21 HSPD1 NM_002156.5(HSPD1):c.581G>A (p.Gly194Glu) SNV Uncertain significance 898733 GRCh37: 2:198359406-198359406
GRCh38: 2:197494682-197494682
22 HSPD1 NM_002156.5(HSPD1):c.1029A>G (p.Gly343=) SNV Uncertain significance 897576 GRCh37: 2:198353912-198353912
GRCh38: 2:197489188-197489188
23 HSPD1 NM_002156.5(HSPD1):c.662G>A (p.Arg221Gln) SNV Uncertain significance 898732 GRCh37: 2:198358919-198358919
GRCh38: 2:197494195-197494195
24 HSPD1 NM_002156.5(HSPD1):c.1207G>A (p.Val403Met) SNV Uncertain significance 333307 rs886055386 GRCh37: 2:198353734-198353734
GRCh38: 2:197489010-197489010
25 HSPD1 NM_002156.5(HSPD1):c.794A>G (p.Asn265Ser) SNV Likely benign 188178 rs149003485 GRCh37: 2:198358123-198358123
GRCh38: 2:197493399-197493399
26 HSPD1 NM_002156.5(HSPD1):c.732T>G (p.Val244=) SNV Likely benign 377970 rs142108846 GRCh37: 2:198358185-198358185
GRCh38: 2:197493461-197493461
27 HSPD1 NM_002156.5(HSPD1):c.428-10G>A SNV Benign 137566 rs111401572 GRCh37: 2:198360110-198360110
GRCh38: 2:197495386-197495386
28 HSPD1 NM_002156.5(HSPD1):c.561T>C (p.Ser187=) SNV Benign 214549 rs141357756 GRCh37: 2:198359426-198359426
GRCh38: 2:197494702-197494702
29 HSPD1 NM_002156.5(HSPD1):c.273A>G (p.Lys91=) SNV Benign 129241 rs8539 GRCh37: 2:198362018-198362018
GRCh38: 2:197497294-197497294
30 HSPD1 NM_002156.5(HSPD1):c.27C>G (p.Arg9=) SNV Benign 129242 rs11551349 GRCh37: 2:198363546-198363546
GRCh38: 2:197498822-197498822
31 HSPD1 NM_002156.5(HSPD1):c.1140C>T (p.Val380=) SNV Benign 137561 rs61736612 GRCh37: 2:198353801-198353801
GRCh38: 2:197489077-197489077
32 HSPD1 NM_002156.5(HSPD1):c.144C>T (p.Ala48=) SNV Benign 137565 rs11551346 GRCh37: 2:198363429-198363429
GRCh38: 2:197498705-197498705
33 HSPD1 NM_002156.5(HSPD1):c.-15C>T SNV Benign 137567 rs13165 GRCh37: 2:198364518-198364518
GRCh38: 2:197499794-197499794
34 HSPD1 NM_002156.5(HSPD1):c.18A>G (p.Thr6=) SNV Benign 333313 rs79630442 GRCh37: 2:198363555-198363555
GRCh38: 2:197498831-197498831
35 HSPD1 NM_002156.5(HSPD1):c.1216-9C>T SNV Benign 137562 rs189395138 GRCh37: 2:198353224-198353224
GRCh38: 2:197488500-197488500
36 HSPD1 NM_002156.5(HSPD1):c.1688G>C (p.Gly563Ala) SNV Benign 137563 rs41265953 GRCh37: 2:198351804-198351804
GRCh38: 2:197487080-197487080
37 HSPD1 NM_002156.5(HSPD1):c.603A>G (p.Val201=) SNV Benign 219636 rs146598485 GRCh37: 2:198359384-198359384
GRCh38: 2:197494660-197494660
38 HSPD1 NM_002156.5(HSPD1):c.69T>C (p.Thr23=) SNV Benign 129243 rs1050347 GRCh37: 2:198363504-198363504
GRCh38: 2:197498780-197498780
39 HSPD1 NM_002156.5(HSPD1):c.-3+15C>T SNV Benign 137560 rs59701865 GRCh37: 2:198364491-198364491
GRCh38: 2:197499767-197499767
40 HSPD1 NM_002156.5(HSPD1):c.-20C>G SNV Benign 896049 GRCh37: 2:198364523-198364523
GRCh38: 2:197499799-197499799
41 HSPD1 NM_002156.5(HSPD1):c.1434C>G (p.Thr478=) SNV Benign 895970 GRCh37: 2:198352717-198352717
GRCh38: 2:197487993-197487993
42 HSPD1 NM_002156.5(HSPD1):c.1446T>C (p.Asn482=) SNV Benign 333306 rs2303884 GRCh37: 2:198352705-198352705
GRCh38: 2:197487981-197487981
43 HSPD1 NM_002156.5(HSPD1):c.1360T>C (p.Leu454=) SNV Benign 239102 rs147135152 GRCh37: 2:198353071-198353071
GRCh38: 2:197488347-197488347

Expression for Spastic Paraplegia 13

Search GEO for disease gene expression data for Spastic Paraplegia 13.

Pathways for Spastic Paraplegia 13

GO Terms for Spastic Paraplegia 13

Sources for Spastic Paraplegia 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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