MCID: SPS097
MIFTS: 32

Spastic Paraplegia 13, Autosomal Dominant

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic 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 75 13 73
Spg13 57 12 59 75
Hereditary Spastic Paraplegia 13 12 15
Autosomal Dominant Spastic Paraplegia Type 13 59
Autosomal Dominant Spastic Paraplegia 13 12

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant spastic paraplegia type 13
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
spastic paraplegia 13, autosomal dominant:
Onset and clinical course progressive
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 605280
Disease Ontology 12 DOID:0110766
ICD10 33 G11.4
Orphanet 59 ORPHA100994
MESH via Orphanet 45 C537485
UMLS via Orphanet 74 C1854467
ICD10 via Orphanet 34 G11.4
MedGen 42 C1854467
MeSH 44 D015419
UMLS 73 C1854467

Summaries for Spastic Paraplegia 13, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 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 spastic paraplegia 13 and spastic paraplegia 33, autosomal dominant, 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). Related phenotypes are hyperreflexia and scoliosis

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 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 Hereditary Spastic Paraplegia
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 51
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
Autosomal Recessive Spastic Paraplegia Type 68 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

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

(show all 26)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 13 11.2
2 spastic paraplegia 33, autosomal dominant 10.1 AP5Z1 SPAST
3 spastic paraplegia 48, autosomal recessive 10.1 AP5Z1 ERLIN2
4 spastic paraplegia 61, autosomal recessive 10.0 ATL1 SPAST
5 spastic paraplegia 10, autosomal dominant 10.0 AP5Z1 ATL1
6 spastic paraplegia 35, autosomal recessive 10.0 AP5Z1 ERLIN2
7 charcot-marie-tooth disease, axonal, type 2d 10.0 ATL1 SPAST
8 spastic paraplegia 3, autosomal dominant 9.8 ATL1 SPAST
9 leukodystrophy, hypomyelinating, 4 9.7 GJC2 HSPD1
10 spastic paraplegia 31, autosomal dominant 9.6 AP5Z1 ATL1 SPAST
11 masa syndrome 9.6 AP5Z1 ATL1 SPAST
12 spastic paraplegia 18, autosomal recessive 9.5 AP5Z1 ERLIN2 WASHC5
13 spastic paraplegia 47, autosomal recessive 9.5 AP5Z1 ERLIN2 WASHC5
14 spastic paraplegia 39, autosomal recessive 9.5 AP5Z1 ERLIN2 WASHC5
15 spastic paraplegia 4, autosomal dominant 9.5 ATL1 ERLIN2 SPAST
16 spastic paraplegia 30, autosomal recessive 9.5 AP5Z1 ERLIN2 WASHC5
17 spastic paraplegia 42, autosomal dominant 9.4 AP5Z1 ERLIN2 WASHC5
18 hypomyelinating leukodystrophy 9.4 GJC2 HSPD1
19 spastic paraplegia 44, autosomal recessive 9.2 AP5Z1 ERLIN2 GJC2
20 leukodystrophy 9.2 GJC2 HSPD1
21 spastic paraplegia 6, autosomal dominant 9.1 AP5Z1 ATL1 ERLIN2 SPAST
22 spastic paraplegia 12, autosomal dominant 9.1 AP5Z1 ATL1 ERLIN2 SPAST
23 spastic paraplegia 8, autosomal dominant 9.0 AP5Z1 ATL1 ERLIN2 WASHC5
24 spastic paraplegia 2, x-linked 8.7 AP5Z1 ATL1 ERLIN2 GJC2
25 paraplegia 7.9 AP5Z1 ATL1 ERLIN2 HSPD1 SPAST WASHC5
26 hereditary spastic paraplegia 7.0 AP5Z1 ATL1 ERLIN2 GJC2 HSPD1 SPAST

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spastic Paraplegia 13, Autosomal Dominant:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 59 32 Frequent (79-30%) HP:0001347
2 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
3 hearing impairment 59 32 very rare (1%) Very rare (<4-1%) HP:0000365
4 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
5 pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001761
6 urinary bladder sphincter dysfunction 59 32 hallmark (90%) Very frequent (99-80%) HP:0002839
7 spastic paraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001258
8 lower limb spasticity 59 32 Frequent (79-30%) HP:0002061
9 impaired vibration sensation in the lower limbs 59 32 frequent (33%) Frequent (79-30%) HP:0002166
10 spastic gait 59 32 frequent (33%) Frequent (79-30%) HP:0002064
11 urinary incontinence 59 32 frequent (33%) Frequent (79-30%) HP:0000020
12 rod-cone dystrophy 59 32 very rare (1%) Very rare (<4-1%) HP:0000510
13 lower limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0007340
14 hyperreflexia in upper limbs 59 32 frequent (33%) Frequent (79-30%) HP:0007350
15 urinary urgency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000012
16 abnormal pyramidal signs 59 Frequent (79-30%)

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

Publications for Spastic Paraplegia 13, Autosomal Dominant

Variations for Spastic Paraplegia 13, Autosomal Dominant

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

75
# 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

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 endoplasmic reticulum GO:0005783 8.92 ATL1 ERLIN2 SPAST WASHC5

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

# Name GO ID Score Top Affiliating Genes
1 axonogenesis GO:0007409 8.96 ATL1 SPAST
2 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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