SPG41
MCID: SPS115
MIFTS: 29

Spastic Paraplegia 41, Autosomal Dominant (SPG41)

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 41, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 41, Autosomal Dominant:

Name: Spastic Paraplegia 41, Autosomal Dominant 57 13 70
Spg41 57 12 58
Autosomal Dominant Spastic Paraplegia Type 41 12 58
Hereditary Spastic Paraplegia 41 12 15
Autosomal Dominant Spastic Paraplegia 41 12

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant spastic paraplegia type 41
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
average age at onset 16.6 years
one 4-generation chinese family has been reported (as of 04/2010)


HPO:

31
spastic paraplegia 41, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110793
OMIM® 57 613364
OMIM Phenotypic Series 57 PS303350
ICD10 32 G11.4
ICD10 via Orphanet 33 G11.4
Orphanet 58 ORPHA320355
MedGen 41 C3888208
UMLS 70 C3888208

Summaries for Spastic Paraplegia 41, Autosomal Dominant

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 11p14.1-p11.2.

MalaCards based summary : Spastic Paraplegia 41, Autosomal Dominant, also known as spg41, is related to hereditary spastic paraplegia and spastic paraplegia 16, x-linked, and has symptoms including urgency of micturition An important gene associated with Spastic Paraplegia 41, Autosomal Dominant is SPG41 (Spastic Paraplegia 41 (Autosomal Dominant)), and among its related pathways/superpathways is MHC class II antigen presentation. Affiliated tissues include eye and spinal cord, and related phenotypes are hyperreflexia and spastic gait

More information from OMIM: 613364 PS303350

Related Diseases for Spastic Paraplegia 41, 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 41, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 hereditary spastic paraplegia 30.9 SPG41 SPG21 SPAST KIF5A
2 spastic paraplegia 16, x-linked 10.1 SPG21 SPAST
3 spastic paraplegia 14, autosomal recessive 10.1 SPG21 SPAST
4 spastic paraplegia 61, autosomal recessive 10.1 SPG21 SPAST
5 spastic paraplegia 33, autosomal dominant 10.1 SPG21 SPAST
6 spastic paraplegia 11, autosomal recessive 10.1 SPG21 SPAST
7 spastic paraplegia 46, autosomal recessive 10.1 SPG21 SPAST
8 spastic paraplegia 26, autosomal recessive 10.1 SPG21 SPAST
9 spastic paraplegia 48, autosomal recessive 10.1 SPG21 SPAST
10 spastic paraplegia 10 10.1 SPG41 KIF5A
11 spastic paraplegia 39, autosomal recessive 10.0 SPG21 SPAST
12 cerebellar ataxia type 9 10.0 SPTBN2 KCND3
13 pure hereditary spastic paraplegia 10.0 SPAST KIF5A
14 spinocerebellar ataxia, autosomal recessive 14 10.0 SPTBN2 ELOVL4
15 spastic paraplegia 47, autosomal recessive 10.0 SPG21 SPAST
16 neuropathy, hereditary sensory, type id 10.0 SPAST KIF5A
17 spastic paraplegia 5a, autosomal recessive 10.0 SPAST KIF5A
18 spinocerebellar ataxia 30 10.0 SPTBN2 KCND3
19 spastic paraplegia 20, autosomal recessive 10.0 SPG21 SPAST
20 spastic paraplegia 18, autosomal recessive 10.0 SPG21 KIF5A
21 spastic paraplegia 56, autosomal recessive 9.9 SPG21 SPAST
22 spinocerebellar ataxia 13 9.9 SPTBN2 KCND3
23 paraplegia 9.8 SPG21 SPAST KIF5A
24 hereditary spastic paraplegia 30 9.8 SPG21 SPAST KIF5A
25 spastic paraplegia 12, autosomal dominant 9.8 SPG21 SPAST KIF5A
26 spastic paraplegia 6, autosomal dominant 9.8 SPG21 SPAST KIF5A
27 spastic paraplegia 31, autosomal dominant 9.8 SPG21 SPAST KIF5A
28 spastic paraplegia 13, autosomal dominant 9.8 SPG21 SPAST KIF5A
29 spastic paraplegia 15, autosomal recessive 9.8 SPG21 SPAST KIF5A
30 spastic paraplegia 8, autosomal dominant 9.8 SPG21 SPAST KIF5A
31 spastic paraplegia 10, autosomal dominant 9.8 SPG21 SPAST KIF5A
32 spastic paraplegia 4, autosomal dominant 9.8 SPG21 SPAST KIF5A
33 masa syndrome 9.8 SPG21 SPAST KIF5A
34 spastic paraplegia 17, autosomal dominant 9.8 SPG21 SPAST KIF5A
35 spastic paraplegia 2, x-linked 9.8 SPG21 SPAST KIF5A
36 hereditary ataxia 9.7 SPTBN2 KCND3 ELOVL4
37 episodic ataxia 9.7 SPTBN2 KCND3
38 autosomal dominant cerebellar ataxia 9.6 SPTBN2 KCND3 ELOVL4
39 charcot-marie-tooth disease, axonal, type 2e 9.5 SPG21 SPAST KIF5A

Graphical network of the top 20 diseases related to Spastic Paraplegia 41, Autosomal Dominant:



Diseases related to Spastic Paraplegia 41, Autosomal Dominant

Symptoms & Phenotypes for Spastic Paraplegia 41, Autosomal Dominant

Human phenotypes related to Spastic Paraplegia 41, Autosomal Dominant:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
2 spastic gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0002064
3 progressive spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007020
4 degeneration of the lateral corticospinal tracts 58 31 hallmark (90%) Very frequent (99-80%) HP:0002314
5 proximal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003701
6 spinal cord lesion 58 31 frequent (33%) Frequent (79-30%) HP:0100561
7 urinary urgency 58 31 frequent (33%) Frequent (79-30%) HP:0000012
8 hand muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0030237
9 lower limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0007210
10 seizures 58 Excluded (0%)
11 emg abnormality 58 Excluded (0%)
12 spastic paraplegia 31 HP:0001258
13 lower limb spasticity 58 Very frequent (99-80%)
14 lower limb muscle weakness 31 HP:0007340
15 abnormality of the cerebrospinal fluid 58 Excluded (0%)
16 abnormal lower-limb motor evoked potentials 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hyperreflexia
spastic paraplegia
spastic gait
lower limb muscle weakness, proximal

Muscle Soft Tissue:
mild weakness of the small hand muscles

Genitourinary Bladder:
urinary urgency

Clinical features from OMIM®:

613364 (Updated 20-May-2021)

UMLS symptoms related to Spastic Paraplegia 41, Autosomal Dominant:


urgency of micturition

Drugs & Therapeutics for Spastic Paraplegia 41, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 41, Autosomal Dominant

Genetic Tests for Spastic Paraplegia 41, Autosomal Dominant

Anatomical Context for Spastic Paraplegia 41, Autosomal Dominant

MalaCards organs/tissues related to Spastic Paraplegia 41, Autosomal Dominant:

40
Eye, Spinal Cord

Publications for Spastic Paraplegia 41, Autosomal Dominant

Articles related to Spastic Paraplegia 41, Autosomal Dominant:

# Title Authors PMID Year
1
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. 57
18364116 2008
2
HIV-1 gp41 binding proteins and antibodies to gp41 could inhibit enhancement of human Raji cell MHC class I and II expression by gp41. 61
8084338 1994

Variations for Spastic Paraplegia 41, Autosomal Dominant

Expression for Spastic Paraplegia 41, Autosomal Dominant

Search GEO for disease gene expression data for Spastic Paraplegia 41, Autosomal Dominant.

Pathways for Spastic Paraplegia 41, Autosomal Dominant

Pathways related to Spastic Paraplegia 41, Autosomal Dominant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.64 SPTBN2 KIF5A

GO Terms for Spastic Paraplegia 41, Autosomal Dominant

Cellular components related to Spastic Paraplegia 41, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.13 SPTBN2 KIF5A KCND3
2 axon cytoplasm GO:1904115 8.62 SPAST KIF5A

Biological processes related to Spastic Paraplegia 41, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homooligomerization GO:0051260 8.96 SPAST KCND3
2 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 8.62 SPTBN2 KIF5A

Sources for Spastic Paraplegia 41, 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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