FSP3
MCID: SPS041
MIFTS: 19

Spastic Paraplegia 6 (FSP3)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Spastic Paraplegia 6

MalaCards integrated aliases for Spastic Paraplegia 6:

Name: Spastic Paraplegia 6 52
Familial Spastic Paraplegia Autosomal Dominant 3 52
Spastic Paraplegia 6, Autosomal Dominant 71
Paraplegia, Spastic, Type 6 39
Spg6 52
Fsp3 52

Classifications:



External Ids:

UMLS 71 C1838192

Summaries for Spastic Paraplegia 6

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100988 Definition A rare form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy , variable peripheral neuropathy and/or memory impairment. Visit the Orphanet disease page for more resources.

MalaCards based summary : Spastic Paraplegia 6, also known as familial spastic paraplegia autosomal dominant 3, is related to spastic paraplegia 6, autosomal dominant and paraplegia, and has symptoms including clonus and urgency of micturition. An important gene associated with Spastic Paraplegia 6 is NIPA1 (NIPA Magnesium Transporter 1). Affiliated tissues include spinal cord and myeloid.

Related Diseases for Spastic Paraplegia 6

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
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 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 6, autosomal dominant 12.8
2 paraplegia 10.6
3 hereditary spastic paraplegia 10.5
4 spasticity 10.3
5 rapidly involuting congenital hemangioma 10.3
6 angelman syndrome 10.1
7 candidiasis, familial, 1 10.1
8 spastic paraplegia 3, autosomal dominant 10.1
9 spastic paraplegia 4, autosomal dominant 10.1
10 leukemia, acute myeloid 10.1
11 spastic paraplegia 31, autosomal dominant 10.1
12 acute leukemia 10.1
13 peripheral nervous system disease 10.1
14 myeloid leukemia 10.1
15 neuropathy 10.1
16 spastic paraplegia 3a 10.1
17 spastic paraplegia 4 10.1

Graphical network of the top 20 diseases related to Spastic Paraplegia 6:



Diseases related to Spastic Paraplegia 6

Symptoms & Phenotypes for Spastic Paraplegia 6

UMLS symptoms related to Spastic Paraplegia 6:


clonus, urgency of micturition

Drugs & Therapeutics for Spastic Paraplegia 6

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 6

Genetic Tests for Spastic Paraplegia 6

Anatomical Context for Spastic Paraplegia 6

MalaCards organs/tissues related to Spastic Paraplegia 6:

40
Spinal Cord, Myeloid

Publications for Spastic Paraplegia 6

Articles related to Spastic Paraplegia 6:

(show all 37)
# Title Authors PMID Year
1
Is NIPA1-associated hereditary spastic paraplegia always 'pure'? Further evidence of motor neurone disease and epilepsy as rare manifestations. 61
32500351 2020
2
The 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome: In Silico Analyses of the Four Coding Genes Reveal Functional Associations with Neurodevelopmental Phenotypes. 61
32384786 2020
3
Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia. 61
31630374 2019
4
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China. 61
29980238 2018
5
SPG6 supports development of acute myeloid leukemia by regulating BMPR2-Smad-Bcl-2/Bcl-xl signaling. 61
29715457 2018
6
Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China. 61
25341883 2014
7
Pathogenesis of autosomal dominant hereditary spastic paraplegia (SPG6) revealed by a rat model. 61
24128679 2013
8
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 61
23897027 2013
9
A diagnostic gene chip for hereditary spastic paraplegias. 61
23850684 2013
10
TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation. 61
22302102 2012
11
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 61
22554690 2012
12
NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy. 61
21599812 2011
13
Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1. 61
21419568 2011
14
Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence. 61
19652142 2009
15
Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots. 61
18191948 2008
16
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. 61
18364116 2008
17
Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia. 61
17928003 2008
18
NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe. 61
17205300 2007
19
NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter. 61
17166836 2007
20
[SPG3A-hereditary spastin paraplegia with genetic anticipation and incomplete penetrance]. 61
17285536 2007
21
Childhood-onset spastic paraplegia with NIPAL gene mutation. 61
17092466 2006
22
Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia. 61
16795073 2006
23
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. 61
16682546 2006
24
Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus). 61
16267846 2006
25
Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia. 61
16143870 2005
26
Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families. 61
15643603 2005
27
Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. 61
15317751 2004
28
NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). 61
14508710 2003
29
Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. 61
10797436 2000
30
Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity. 61
10563637 1999
31
Isolation of CAG/CTG repeats from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPG4) by YAC fragmentation. 61
10987648 1999
32
Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q. 61
9847083 1998
33
CAG repeat expansion in autosomal dominant familial spastic paraparesis: novel expansion in a subset of patients. 61
9736780 1998
34
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. 61
9634528 1998
35
[Clinical and molecular genetic analysis of 4 Swiss families with the pure form of hereditary spastic spinal paralysis]. 61
9700778 1998
36
Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p. 61
9507385 1998
37
Pure familial spastic paraplegia: clinical and genetic analysis of nine Belgian pedigrees. 61
8946171 1996

Variations for Spastic Paraplegia 6

Expression for Spastic Paraplegia 6

Search GEO for disease gene expression data for Spastic Paraplegia 6.

Pathways for Spastic Paraplegia 6

GO Terms for Spastic Paraplegia 6

Sources for Spastic Paraplegia 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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