SPG13
MCID: SPS097
MIFTS: 36

Spastic Paraplegia 13, Autosomal Dominant (SPG13)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare 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 58 76 13 74
Spg13 58 12 60 76
Hereditary Spastic Paraplegia 13 12 15
Autosomal Dominant Spastic Paraplegia Type 13 60
Autosomal Dominant Spastic Paraplegia 13 12

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant spastic paraplegia type 13
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
spastic paraplegia 13, autosomal dominant:
Onset and clinical course progressive
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110766
OMIM 58 605280
MeSH 45 D015419
ICD10 34 G11.4
MESH via Orphanet 46 C537485
ICD10 via Orphanet 35 G11.4
UMLS via Orphanet 75 C1854467
Orphanet 60 ORPHA100994
MedGen 43 C1854467
UMLS 74 C1854467

Summaries for Spastic Paraplegia 13, Autosomal Dominant

UniProtKB/Swiss-Prot : 76 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 spg13, is related to paraplegia and hereditary spastic 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 skin, bone and eye, and related phenotypes are urinary bladder sphincter dysfunction and spastic paraplegia

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.

Description from OMIM: 605280

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 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 Hereditary Spastic Paraplegia 23
Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 72
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 Spastic Paraplegia 1
Spastic Paraplegia 10 Spastic Paraplegia 12
Spastic Paraplegia 13 Spastic Paraplegia 14
Spastic Paraplegia 15 Spastic Paraplegia 16
Spastic Paraplegia 17 Spastic Paraplegia 18
Spastic Paraplegia 19 Spastic Paraplegia 24
Spastic Paraplegia 25 Spastic Paraplegia 26
Spastic Paraplegia 29 Spastic Paraplegia 3
Spastic Paraplegia 31 Spastic Paraplegia 32
Spastic Paraplegia 39 Spastic Paraplegia 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 Spastic Paraplegia 13, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 paraplegia 29.3 AP5Z1 ATL1 ERLIN2 HSPD1 WASHC5
2 hereditary spastic paraplegia 28.3 ALDH18A1 AP5Z1 ATL1 ERLIN2 GJC2 HSPD1
3 spastic paraplegia 13 11.4
4 spastic paraplegia 48, autosomal recessive 10.0 AP5Z1 ERLIN2
5 spastic paraplegia 31, autosomal dominant 10.0 AP5Z1 ATL1
6 spastic paraplegia 10, autosomal dominant 10.0 AP5Z1 ATL1
7 spastic paraplegia 44, autosomal recessive 10.0 AP5Z1 GJC2
8 leukodystrophy, hypomyelinating, 4 10.0 GJC2 HSPD1
9 leukodystrophy 10.0 GJC2 HSPD1
10 masa syndrome 10.0 AP5Z1 ATL1
11 spastic paraplegia 35, autosomal recessive 10.0 AP5Z1 ERLIN2
12 spastic paraplegia 4, autosomal dominant 9.8 ATL1 ERLIN2
13 spastic paraplegia 6, autosomal dominant 9.8 AP5Z1 ATL1 ERLIN2
14 spastic paraplegia 12, autosomal dominant 9.8 AP5Z1 ATL1 ERLIN2
15 spastic paraplegia 2, x-linked 9.8 AP5Z1 ATL1 GJC2
16 hypomyelinating leukodystrophy 9.7 GJC2 HSPD1
17 spastic paraplegia 18, autosomal recessive 9.6 AP5Z1 ERLIN2 WASHC5
18 spastic paraplegia 47, autosomal recessive 9.6 AP5Z1 ERLIN2 WASHC5
19 spastic paraplegia 39, autosomal recessive 9.6 AP5Z1 ERLIN2 WASHC5
20 spastic paraplegia 30, autosomal recessive 9.6 AP5Z1 ERLIN2 WASHC5
21 spastic paraplegia 42, autosomal dominant 9.6 AP5Z1 ERLIN2 WASHC5
22 spastic paraplegia 8, autosomal dominant 9.4 AP5Z1 ATL1 ERLIN2 WASHC5

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:

60 33 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 urinary bladder sphincter dysfunction 60 33 hallmark (90%) Very frequent (99-80%) HP:0002839
2 spastic paraplegia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001258
3 babinski sign 60 33 frequent (33%) Frequent (79-30%) HP:0003487
4 lower limb muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0007340
5 impaired vibration sensation in the lower limbs 60 33 frequent (33%) Frequent (79-30%) HP:0002166
6 spastic gait 60 33 frequent (33%) Frequent (79-30%) HP:0002064
7 hyperreflexia in upper limbs 60 33 frequent (33%) Frequent (79-30%) HP:0007350
8 urinary incontinence 60 33 frequent (33%) Frequent (79-30%) HP:0000020
9 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
10 pes cavus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001761
11 urinary urgency 60 33 occasional (7.5%) Occasional (29-5%) HP:0000012
12 hearing impairment 60 33 very rare (1%) Very rare (<4-1%) HP:0000365
13 rod-cone dystrophy 60 33 very rare (1%) Very rare (<4-1%) HP:0000510
14 hyperreflexia 60 33 Frequent (79-30%) HP:0001347
15 lower limb spasticity 60 33 Frequent (79-30%) HP:0002061
16 abnormal pyramidal sign 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hyperreflexia
lower limb spasticity
spastic gait
pyramidal signs
extensor plantar responses
more
Genitourinary Bladder:
urinary urgency
urinary incontinence
sphincter disturbances

Clinical features from OMIM:

605280

UMLS symptoms related to Spastic Paraplegia 13, Autosomal Dominant:


urgency of micturition, abnormal pyramidal signs

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

Anatomical Context for Spastic Paraplegia 13, Autosomal Dominant

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

42
Skin, Bone, Eye

Publications for Spastic Paraplegia 13, Autosomal Dominant

Articles related to Spastic Paraplegia 13, Autosomal Dominant:

# Title Authors Year
1
Data supporting mitochondrial morphological changes by SPG13-associated HSPD1 mutants. ( 26900593 )
2016
2
Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13). ( 18378094 )
2008
3
The Hsp60-(p.V98I) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo. ( 18400758 )
2008
4
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. ( 11898127 )
2002

Variations for Spastic Paraplegia 13, Autosomal Dominant

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

76
# Symbol AA change Variation ID SNP ID
1 HSPD1 p.Val98Ile VAR_026748 rs66468541

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HSPD1 NM_199440.1(HSPD1): c.292G> A (p.Val98Ile) single nucleotide variant Pathogenic rs66468541 GRCh37 Chromosome 2, 198361999: 198361999
2 HSPD1 NM_199440.1(HSPD1): c.292G> A (p.Val98Ile) single nucleotide variant Pathogenic rs66468541 GRCh38 Chromosome 2, 197497275: 197497275
3 HSPD1 NM_002156.4(HSPD1): c.1607C> T (p.Ala536Val) single nucleotide variant Likely pathogenic rs863224878 GRCh37 Chromosome 2, 198351885: 198351885
4 HSPD1 NM_002156.4(HSPD1): c.1607C> T (p.Ala536Val) single nucleotide variant Likely pathogenic rs863224878 GRCh38 Chromosome 2, 197487161: 197487161
5 HSPD1 HSPD1, GLN461GLU undetermined variant Pathogenic

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 myelin sheath GO:0043209 8.32 GJC2

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

# Name GO ID Score Top Affiliating Genes
1 endosomal transport GO:0016197 8.62 AP5Z1 WASHC5

Sources for Spastic Paraplegia 13, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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