FSP3
MCID: SPS041
MIFTS: 25

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 29 6
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 myeloid, spinal cord and eye.

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 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 23 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 12.7
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

Genetic tests related to Spastic Paraplegia 6:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 6 29 NIPA1

Anatomical Context for Spastic Paraplegia 6

MalaCards organs/tissues related to Spastic Paraplegia 6:

40
Myeloid, Spinal Cord, Eye, Bone, Skin

Publications for Spastic Paraplegia 6

Articles related to Spastic Paraplegia 6:

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

Variations for Spastic Paraplegia 6

ClinVar genetic disease variations for Spastic Paraplegia 6:

6 (show all 27) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NIPA1 NM_144599.5(NIPA1):c.134C>G (p.Thr45Arg)SNV Pathogenic 2520 rs104894496 15:23086278-23086278 15:22786790-22786790
2 NIPA1 NM_144599.5(NIPA1):c.316G>C (p.Gly106Arg)SNV Pathogenic 2521 rs104894490 15:23060816-23060816 15:22812252-22812252
3 NIPA1 NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg)SNV Pathogenic 2523 rs104894490 15:23060816-23060816 15:22812252-22812252
4 NIPA1 NM_144599.5(NIPA1):c.291C>G (p.Pro97=)SNV Conflicting interpretations of pathogenicity 315426 rs199818530 15:23060841-23060841 15:22812227-22812227
5 NIPA1 NC_000015.9:g.(?_23043279)_(23086436_?)deldeletion Uncertain significance 417311 15:23043279-23086436 15:22786632-22829789
6 NIPA1 NC_000015.9:g.(?_23043279)_(23086436_?)dupduplication Uncertain significance 417310 15:23043279-23086436 15:22786632-22829789
7 NIPA1 NM_144599.5(NIPA1):c.99C>T (p.Gly33=)SNV Uncertain significance 464775 rs1370367415 15:23086313-23086313 15:22786755-22786755
8 NIPA1 NM_144599.5(NIPA1):c.403G>A (p.Val135Met)SNV Uncertain significance 533363 rs763295984 15:23052670-23052670 15:22820398-22820398
9 NIPA1 NC_000015.9:g.(?_22841039)_(23086411_?)deldeletion Uncertain significance 583459 15:22841039-23086411 15:22786657-23032029
10 NIPA1 NM_144599.5(NIPA1):c.479-9G>ASNV Uncertain significance 573451 rs1566789035 15:23049349-23049349 15:22823719-22823719
11 NIPA1 NC_000015.9:g.(?_23048809)_(23086431_?)deldeletion Uncertain significance 583526 15:23048809-23086431 15:22786637-22824259
12 NIPA1 NM_144599.5(NIPA1):c.24_26GGC[12] (p.Ala13_Ala16dup)short repeat Uncertain significance 569841 rs531550505 15:23086364-23086365 15:22786677-22786678
13 NIPA1 NM_144599.5(NIPA1):c.12_17del (p.Ala15_Ala16del)deletion Uncertain significance 639570 15:23086395-23086400 15:22786664-22786669
14 NIPA1 NM_144599.5(NIPA1):c.24_26GGC[3] (p.Ala12_Ala16del)short repeat Uncertain significance 642752 15:23086365-23086379 15:22786678-22786692
15 NIPA1 NM_144599.5(NIPA1):c.130T>G (p.Ser44Ala)SNV Uncertain significance 660993 15:23086282-23086282 15:22786786-22786786
16 NIPA1 NM_144599.5(NIPA1):c.263C>T (p.Thr88Met)SNV Uncertain significance 646108 15:23060869-23060869 15:22812199-22812199
17 NIPA1 NM_144599.5(NIPA1):c.871T>C (p.Phe291Leu)SNV Uncertain significance 660876 15:23048948-23048948 15:22824120-22824120
18 NIPA1 NC_000015.9:g.(?_23060795)_(23086431_?)deldeletion Uncertain significance 647476 15:23060795-23086431 15:22786637-22812273
19 NIPA1 NC_000015.9:g.(?_23048819)_(23086421_?)deldeletion Uncertain significance 650698 15:23048819-23086421 15:22786647-22824249
20 NIPA1 NC_000015.9:g.(?_23048819)_(23086421_?)dupduplication Uncertain significance 644274 15:23048819-23086421 15:22786647-22824249
21 NIPA1 NM_144599.5(NIPA1):c.24_26GGC[11] (p.Ala14_Ala16dup)short repeat Uncertain significance 533362 rs531550505 15:23086364-23086365 15:22786677-22786678
22 NIPA1 NM_144599.5(NIPA1):c.299C>T (p.Ala100Val)SNV Uncertain significance 533364 rs1356799862 15:23060833-23060833 15:22812235-22812235
23 NIPA1 NM_144599.5(NIPA1):c.894C>T (p.Phe298=)SNV Likely benign 533365 rs1555374032 15:23048925-23048925 15:22824143-22824143
24 NIPA1 NM_144599.5(NIPA1):c.45G>A (p.Ala15=)SNV Likely benign 533367 rs1555371616 15:23086367-23086367 15:22786701-22786701
25 NIPA1 NM_144599.5(NIPA1):c.291C>A (p.Pro97=)SNV Likely benign 533366 rs199818530 15:23060841-23060841 15:22812227-22812227
26 NIPA1 NM_144599.5(NIPA1):c.24_26GGC[7] (p.Ala16del)short repeat Benign/Likely benign 193495 rs531550505 15:23086365-23086367 15:22786678-22786680
27 NIPA1 NM_144599.5(NIPA1):c.441A>G (p.Thr147=)SNV Benign 129804 rs11263683 15:23052632-23052632 15:22820436-22820436

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
41 MedGen
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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