MCID: SPS115
MIFTS: 31

Spastic Paraplegia 41, Autosomal Dominant

Categories: Neuronal diseases, Rare diseases, Genetic diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic 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 73
Spg41 57 12 59
Autosomal Dominant Spastic Paraplegia Type 41 12 59
Hereditary Spastic Paraplegia 41 12 15
Autosomal Dominant Spastic Paraplegia 41 12

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant spastic paraplegia type 41
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
spastic paraplegia 41, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 613364
Disease Ontology 12 DOID:0110793
ICD10 33 G11.4
Orphanet 59 ORPHA320355
ICD10 via Orphanet 34 G11.4
MedGen 42 C3888208
UMLS 73 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 spastic paraplegia 10 and burkitt lymphoma, 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 are RANK Signaling in Osteoclasts and Epstein-Barr virus infection. Affiliated tissues include spinal cord, and related phenotypes are hyperreflexia and spastic gait

Description from OMIM: 613364

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

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 10 10.9
2 burkitt lymphoma 9.2 CR2 ICAM1
3 systemic lupus erythematosus 9.0 CR2 ICAM1

Symptoms & Phenotypes for Spastic Paraplegia 41, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spastic Paraplegia 41, Autosomal Dominant:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
2 spastic gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0002064
3 degeneration of the lateral corticospinal tracts 59 32 hallmark (90%) Very frequent (99-80%) HP:0002314
4 progressive spastic paraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007020
5 spinal cord lesion 59 32 frequent (33%) Frequent (79-30%) HP:0100561
6 proximal muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003701
7 lower limb amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0007210
8 hand muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0030237
9 urinary urgency 59 32 frequent (33%) Frequent (79-30%) HP:0000012
10 seizures 59 Excluded (0%)
11 emg abnormality 59 Excluded (0%)
12 spastic paraplegia 32 HP:0001258
13 lower limb spasticity 59 Very frequent (99-80%)
14 abnormality of the cerebrospinal fluid 59 Excluded (0%)
15 abnormal lower-limb motor evoked potentials 59 Excluded (0%)
16 lower limb muscle weakness 32 HP:0007340

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:

41
Spinal Cord

Publications for Spastic Paraplegia 41, Autosomal Dominant

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
Show member pathways
11.35 CR2 ICAM1
2 10.93 CR2 ICAM1

GO Terms for Spastic Paraplegia 41, Autosomal Dominant

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

# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 8.96 CR2 ICAM1
2 viral entry into host cell GO:0046718 8.62 CR2 ICAM1

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 8.96 CR2 ICAM1
2 virus receptor activity GO:0001618 8.62 CR2 ICAM1

Sources for Spastic Paraplegia 41, 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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