SPG13
MCID: SPS097
MIFTS: 42

Spastic Paraplegia 13, Autosomal Dominant (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, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 13, Autosomal Dominant:

Name: Spastic Paraplegia 13, Autosomal Dominant 57 72 13 70
Hereditary Spastic Paraplegia 13 12 29 6 15
Spg13 57 12 58 72
Autosomal Dominant Spastic Paraplegia Type 13 58
Autosomal Dominant Spastic Paraplegia 13 12

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant spastic paraplegia type 13
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
genetic heterogeneity, see spg3a
severe phenotype
age of onset 17 to 68 years (mean 39)


HPO:

31
spastic paraplegia 13, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110766
OMIM® 57 605280
OMIM Phenotypic Series 57 PS303350
MeSH 44 D015419
ICD10 32 G11.4
MESH via Orphanet 45 C537485
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 71 C1854467
Orphanet 58 ORPHA100994
MedGen 41 C1854467
UMLS 70 C1854467

Summaries for Spastic Paraplegia 13, Autosomal Dominant

UniProtKB/Swiss-Prot : 72 Spastic paraplegia 13, autosomal dominant: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.

MalaCards based summary : Spastic Paraplegia 13, Autosomal Dominant, also known as hereditary spastic paraplegia 13, is related to pure hereditary spastic paraplegia and paraplegia, and has symptoms including urgency of micturition and abnormal pyramidal signs. An important gene associated with Spastic Paraplegia 13, Autosomal Dominant is HSPD1 (Heat Shock Protein Family D (Hsp60) Member 1). Affiliated tissues include brain, and related phenotypes are spastic paraplegia and urinary bladder sphincter dysfunction

Disease Ontology : 12 A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has material basis in mutation in the HSPD1 on chromosome 2q33.

More information from OMIM: 605280 PS303350

Related Diseases for Spastic Paraplegia 13, Autosomal Dominant

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, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 pure hereditary spastic paraplegia 29.5 SPAST RTN2 NIPA1 KIF5A ATL1
2 paraplegia 26.7 SPG7 SPG21 SPG11 SPAST SLC33A1 RTN2
3 hereditary spastic paraplegia 26.4 SPG7 SPG21 SPG11 SPAST SLC33A1 RTN2
4 spastic paraplegia 13 11.4
5 sennetsu fever 10.3 HSPE1 HSPD1
6 carrion's disease 10.2 HSPE1 HSPD1
7 optic atrophy 3, autosomal dominant 10.2 SPG7 CRYAA
8 neuropathy, hereditary sensory, type id 10.1 SPAST KIF5A ATL1
9 pelizaeus-merzbacher-like disease 10.1 HSPD1 GJC2
10 spastic paraplegia 41, autosomal dominant 10.1 SPG21 SPAST KIF5A
11 neuronopathy, distal hereditary motor, type va 10.1 RTN2 REEP1 ATL1
12 hallermann-streiff syndrome 10.1 GJC2 CRYAA
13 spasticity 10.0 SPG7 SPAST DDHD1
14 spastic paraplegia, optic atrophy, and neuropathy 10.0 ATL1 AP5Z1
15 spastic paraplegia 7, autosomal recessive 10.0 SPG7 SPG11
16 spinocerebellar ataxia 28 10.0 SPG7 CRYAA
17 spastic paraplegia 64, autosomal recessive 10.0 SPG21 SPG11
18 nescav syndrome 9.9 RTN2 REEP1 AP5Z1
19 spastic paraplegia 57, autosomal recessive 9.9 SPG11 REEP1 KIF5A
20 spastic paraplegia 45, autosomal recessive 9.9 SPG21 SPG11
21 hypomyelinating leukodystrophy 9.9
22 leukodystrophy 9.9
23 spastic paraplegia 63, autosomal recessive 9.9 SPG7 SPG21 SPG11
24 spastic paraplegia 29, autosomal dominant 9.9 SPG21 SLC33A1
25 spastic paraplegia 73, autosomal dominant 9.9 SPG21 REEP1 DDHD1 ATL1
26 complex hereditary spastic paraplegia 9.9 SPG7 SPG11 NIPA1
27 spastic paraplegia 27, autosomal recessive 9.9 SPG21 SLC33A1
28 spastic paraplegia 19, autosomal dominant 9.9 SPG21 SLC33A1
29 mast syndrome 9.9 SPG21 SPG11
30 amyotrophic lateral sclerosis type 12 9.9 SPG11 CRYAA
31 leukodystrophy, hypomyelinating, 4 9.9 HSPE1 HSPD1 GJC2 CRYAA
32 amyotrophic lateral sclerosis type 5 9.8 SPG11 AP5Z1
33 spastic paraplegia 5a, autosomal recessive 9.8 SPG7 SPG11 SPAST KIF5A
34 motor peripheral neuropathy 9.8 SPG7 SPG11 REEP1 KIF5A
35 spastic paraplegia 25, autosomal recessive 9.8 SPG21 SLC33A1 REEP1
36 spastic paraplegia 37, autosomal dominant 9.8 SPG21 SLC33A1 REEP1
37 spastic paraplegia 34, x-linked 9.8 SPG21 SLC33A1 REEP1
38 spastic paraplegia 20, autosomal recessive 9.8 SPG7 SPG21 SPAST NIPA1 ATL1
39 spastic ataxia 9.8 SPG7 SPG11 GJC2
40 spastic paraplegia 75, autosomal recessive 9.8 SLC33A1 GJC2
41 neuropathy, hereditary sensory, type iic 9.7 SPG21 SPG11 RTN2 REEP1
42 spastic paraparesis 9.7 SPG7 SPG11 SPAST DDHD1
43 amyotrophic lateral sclerosis 9 9.7 SPG11 CRYAA
44 spastic paraplegia 49, autosomal recessive 9.7 SPG7 SPG21 SPG11 DDHD1
45 spastic paraplegia 55, autosomal recessive 9.7 SPG7 SPG21 SPG11 DDHD1
46 hereditary spastic paraplegia 51 9.7 SPG7 SPG21 SPG11 AP5Z1
47 hereditary spastic paraplegia 23 9.6 SPG21 SPG11 SLC33A1
48 charcot-marie-tooth disease, axonal, type 2e 9.6 SPG7 SPG21 SPG11 SPAST KIF5A
49 spastic paraplegia 52, autosomal recessive 9.6 SPG21 SPG11 RTN2 AP5Z1
50 spastic paraplegia 53, autosomal recessive 9.5 SLC33A1 RTN2 ATL1 AP5Z1

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



Diseases related to Spastic Paraplegia 13, Autosomal Dominant

Symptoms & Phenotypes for Spastic Paraplegia 13, Autosomal Dominant

Human phenotypes related to Spastic Paraplegia 13, Autosomal Dominant:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001258
2 urinary bladder sphincter dysfunction 58 31 hallmark (90%) Very frequent (99-80%) HP:0002839
3 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
4 urinary incontinence 58 31 frequent (33%) Frequent (79-30%) HP:0000020
5 spastic gait 58 31 frequent (33%) Frequent (79-30%) HP:0002064
6 lower limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0007340
7 impaired vibration sensation in the lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0002166
8 hyperreflexia in upper limbs 58 31 frequent (33%) Frequent (79-30%) HP:0007350
9 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
10 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
11 urinary urgency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000012
12 hearing impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0000365
13 rod-cone dystrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0000510
14 hyperreflexia 58 31 Frequent (79-30%) HP:0001347
15 lower limb spasticity 58 31 Frequent (79-30%) HP:0002061
16 abnormal pyramidal sign 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
lower limb spasticity
spastic gait
pyramidal signs
extensor plantar responses
more
Genitourinary Bladder:
urinary incontinence
urinary urgency
sphincter disturbances

Clinical features from OMIM®:

605280 (Updated 05-Apr-2021)

UMLS symptoms related to Spastic Paraplegia 13, Autosomal Dominant:


urgency of micturition; abnormal pyramidal signs

MGI Mouse Phenotypes related to Spastic Paraplegia 13, Autosomal Dominant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.9 AP5Z1 ATL1 GJC2 HSPD1 KIF5A REEP1
2 cellular MP:0005384 9.61 AP5Z1 GJC2 HSPD1 KIF5A REEP1 RTN2
3 nervous system MP:0003631 9.32 AP5Z1 GJC2 HSPD1 KIF5A REEP1 SLC33A1

Drugs & Therapeutics for Spastic Paraplegia 13, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 13, Autosomal Dominant

Genetic Tests for Spastic Paraplegia 13, Autosomal Dominant

Genetic tests related to Spastic Paraplegia 13, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Hereditary Spastic Paraplegia 13 29 HSPD1

Anatomical Context for Spastic Paraplegia 13, Autosomal Dominant

MalaCards organs/tissues related to Spastic Paraplegia 13, Autosomal Dominant:

40
Brain

Publications for Spastic Paraplegia 13, Autosomal Dominant

Articles related to Spastic Paraplegia 13, Autosomal Dominant:

(show all 19)
# Title Authors PMID Year
1
A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia. 57 6
17420924 2007
2
A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34. 6 57
10677329 2000
3
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. 61 57
11898127 2002
4
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
5
A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy. 61
33076433 2020
6
A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy. 61
32532876 2020
7
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
8
Data supporting mitochondrial morphological changes by SPG13-associated HSPD1 mutants. 61
26900593 2016
9
The Hsp60 folding machinery is crucial for manganese superoxide dismutase folding and function. 61
24151936 2014
10
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 61
23897027 2013
11
Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice. 61
23466696 2013
12
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 61
22554690 2012
13
Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia. 61
19423133 2009
14
A novel hereditary spastic paraplegia with dystonia linked to chromosome 2q24-2q31. 61
19006192 2009
15
Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy. 61
18571143 2008
16
The Hsp60-(p.V98I) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo. 61
18400758 2008
17
Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13). 61
18378094 2008
18
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. 61
18364116 2008
19
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. 61
16682546 2006

Variations for Spastic Paraplegia 13, Autosomal Dominant

ClinVar genetic disease variations for Spastic Paraplegia 13, Autosomal Dominant:

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

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 13, Autosomal Dominant:

72
# Symbol AA change Variation ID SNP ID
1 HSPD1 p.Val98Ile VAR_026748 rs66468541

Expression for Spastic Paraplegia 13, Autosomal Dominant

Search GEO for disease gene expression data for Spastic Paraplegia 13, Autosomal Dominant.

Pathways for Spastic Paraplegia 13, Autosomal Dominant

GO Terms for Spastic Paraplegia 13, Autosomal Dominant

Cellular components related to Spastic Paraplegia 13, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon cytoplasm GO:1904115 9.13 SPG7 SPAST KIF5A
2 endoplasmic reticulum tubular network GO:0071782 8.8 SPAST REEP1 ATL1

Biological processes related to Spastic Paraplegia 13, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 anterograde axonal transport GO:0008089 9.16 SPG7 SPAST
2 protein refolding GO:0042026 8.96 HSPD1 CRYAA
3 synaptic vesicle transport GO:0048489 8.62 SPG11 KIF5A

Molecular functions related to Spastic Paraplegia 13, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.26 SPG7 SPAST KIF5A HSPD1
2 unfolded protein binding GO:0051082 8.92 SPG7 HSPE1 HSPD1 CRYAA

Sources for Spastic Paraplegia 13, Autosomal Dominant

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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