SPG41
MCID: SPS115
MIFTS: 31

Spastic Paraplegia 41, Autosomal Dominant (SPG41)

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 41, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 41, Autosomal Dominant:

Name: Spastic Paraplegia 41, Autosomal Dominant 58 74
Spg41 58 12 60
Autosomal Dominant Spastic Paraplegia Type 41 12 60
Hereditary Spastic Paraplegia 41 12 15
Autosomal Dominant Spastic Paraplegia 41 12

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant spastic paraplegia type 41
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
spastic paraplegia 41, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110793
OMIM 58 613364
ICD10 34 G11.4
ICD10 via Orphanet 35 G11.4
Orphanet 60 ORPHA320355
MedGen 43 C3888208
UMLS 74 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 cone-rod dystrophy and hearing loss 2 and spastic paraplegia 10, 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 RANK Signaling in Osteoclasts. Affiliated tissues include spinal cord, skin and bone, and related phenotypes are hyperreflexia and degeneration of the lateral corticospinal tracts

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

# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy and hearing loss 2 11.1
2 spastic paraplegia 10 11.1
3 burkitt lymphoma 9.5 CR2 ICAM1

Symptoms & Phenotypes for Spastic Paraplegia 41, Autosomal Dominant

Human phenotypes related to Spastic Paraplegia 41, Autosomal Dominant:

60 33 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001347
2 degeneration of the lateral corticospinal tracts 60 33 hallmark (90%) Very frequent (99-80%) HP:0002314
3 progressive spastic paraplegia 60 33 hallmark (90%) Very frequent (99-80%) HP:0007020
4 spastic gait 60 33 hallmark (90%) Very frequent (99-80%) HP:0002064
5 proximal muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003701
6 spinal cord lesion 60 33 frequent (33%) Frequent (79-30%) HP:0100561
7 urinary urgency 60 33 frequent (33%) Frequent (79-30%) HP:0000012
8 lower limb amyotrophy 60 33 frequent (33%) Frequent (79-30%) HP:0007210
9 hand muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0030237
10 seizures 60 Excluded (0%)
11 emg abnormality 60 Excluded (0%)
12 spastic paraplegia 33 HP:0001258
13 lower limb muscle weakness 33 HP:0007340
14 lower limb spasticity 60 Very frequent (99-80%)
15 abnormality of the cerebrospinal fluid 60 Excluded (0%)
16 abnormal lower-limb motor evoked potentials 60 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
Spinal Cord, Skin, Bone, Eye

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
11.02 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 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
Content
Loading form....