FSP3
MCID: SPS041
MIFTS: 22

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, Skin diseases

Aliases & Classifications for Spastic Paraplegia 6

MalaCards integrated aliases for Spastic Paraplegia 6:

Name: Spastic Paraplegia 6 53 29 6
Familial Spastic Paraplegia Autosomal Dominant 3 53
Spastic Paraplegia 6, Autosomal Dominant 73
Paraplegia, Spastic, Type 6 40
Spg6 53
Fsp3 53

Classifications:



External Ids:

UMLS 73 C1838192

Summaries for Spastic Paraplegia 6

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 100988Disease definitionAutosomal dominant spastic paraplegia type 6 (SPG6) is a 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 skin, bone 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 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
Spastic Paraplegia Type 49 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 Autosomal Dominant Spastic Paraplegia Type 9b
Autosomal Dominant Spastic Paraplegia Type 9

Diseases related to Spastic Paraplegia 6 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 6, autosomal dominant 12.6
2 paraplegia 10.5
3 hereditary spastic paraplegia 10.4
4 leukemia, acute myeloid 10.0
5 myeloid leukemia 10.0

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:

41
Skin, Bone, Eye, Myeloid

Publications for Spastic Paraplegia 6

Variations for Spastic Paraplegia 6

ClinVar genetic disease variations for Spastic Paraplegia 6:

6 (show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 NIPA1 NM_144599.4(NIPA1): c.134C> G (p.Thr45Arg) single nucleotide variant Pathogenic rs104894496 GRCh37 Chromosome 15, 23086278: 23086278
2 NIPA1 NM_144599.4(NIPA1): c.134C> G (p.Thr45Arg) single nucleotide variant Pathogenic rs104894496 GRCh38 Chromosome 15, 22786790: 22786790
3 NIPA1 NM_144599.4(NIPA1): c.316G> C (p.Gly106Arg) single nucleotide variant Pathogenic rs104894490 GRCh37 Chromosome 15, 23060816: 23060816
4 NIPA1 NM_144599.4(NIPA1): c.316G> C (p.Gly106Arg) single nucleotide variant Pathogenic rs104894490 GRCh38 Chromosome 15, 22812252: 22812252
5 NIPA1 NM_144599.4(NIPA1): c.316G> A (p.Gly106Arg) single nucleotide variant Pathogenic rs104894490 GRCh37 Chromosome 15, 23060816: 23060816
6 NIPA1 NM_144599.4(NIPA1): c.316G> A (p.Gly106Arg) single nucleotide variant Pathogenic rs104894490 GRCh38 Chromosome 15, 22812252: 22812252
7 NIPA1 NM_144599.4(NIPA1): c.441A> G (p.Thr147=) single nucleotide variant Benign rs11263683 GRCh37 Chromosome 15, 23052632: 23052632
8 NIPA1 NM_144599.4(NIPA1): c.441A> G (p.Thr147=) single nucleotide variant Benign rs11263683 GRCh38 Chromosome 15, 22820436: 22820436
9 NIPA1 NM_144599.4(NIPA1): c.45_47delGGC (p.Ala16del) deletion Benign/Likely benign rs531550505 GRCh37 Chromosome 15, 23086365: 23086367
10 NIPA1 NM_144599.4(NIPA1): c.45_47delGGC (p.Ala16del) deletion Benign/Likely benign rs531550505 GRCh38 Chromosome 15, 22786701: 22786703
11 NIPA1 NM_144599.4(NIPA1): c.42_47dupGGCGGC (p.Ala16_Gly17insAlaAla) duplication Conflicting interpretations of pathogenicity rs549007670 GRCh37 Chromosome 15, 23086365: 23086370
12 NIPA1 NM_144599.4(NIPA1): c.42_47dupGGCGGC (p.Ala16_Gly17insAlaAla) duplication Conflicting interpretations of pathogenicity rs549007670 GRCh38 Chromosome 15, 22786698: 22786703
13 NIPA1 NM_144599.4(NIPA1): c.39_47delGGCGGCGGC (p.Ala14_Ala16del) deletion Likely benign rs755160902 GRCh38 Chromosome 15, 22786695: 22786703
14 NIPA1 NM_144599.4(NIPA1): c.39_47delGGCGGCGGC (p.Ala14_Ala16del) deletion Likely benign rs755160902 GRCh37 Chromosome 15, 23086365: 23086373
15 NIPA1 NM_144599.4(NIPA1): c.45_47dupGGC (p.Ala16_Gly17insAla) duplication Likely benign rs549007670 GRCh38 Chromosome 15, 22786701: 22786703
16 NIPA1 NM_144599.4(NIPA1): c.45_47dupGGC (p.Ala16_Gly17insAla) duplication Likely benign rs549007670 GRCh37 Chromosome 15, 23086365: 23086367
17 NIPA1 NM_144599.4(NIPA1): c.312G> A (p.Pro104=) single nucleotide variant Conflicting interpretations of pathogenicity rs139372534 GRCh37 Chromosome 15, 23060820: 23060820
18 NIPA1 NM_144599.4(NIPA1): c.312G> A (p.Pro104=) single nucleotide variant Conflicting interpretations of pathogenicity rs139372534 GRCh38 Chromosome 15, 22812248: 22812248
19 NIPA1 NM_144599.4(NIPA1): c.537C> T (p.Ile179=) single nucleotide variant Benign/Likely benign rs547634456 GRCh37 Chromosome 15, 23049282: 23049282
20 NIPA1 NM_144599.4(NIPA1): c.537C> T (p.Ile179=) single nucleotide variant Benign/Likely benign rs547634456 GRCh38 Chromosome 15, 22823786: 22823786
21 NIPA1 NM_144599.4(NIPA1): c.291C> G (p.Pro97=) single nucleotide variant Conflicting interpretations of pathogenicity rs199818530 GRCh38 Chromosome 15, 22812227: 22812227
22 NIPA1 NM_144599.4(NIPA1): c.291C> G (p.Pro97=) single nucleotide variant Conflicting interpretations of pathogenicity rs199818530 GRCh37 Chromosome 15, 23060841: 23060841
23 NIPA1 NM_144599.4(NIPA1): c.21A> G (p.Ala7=) single nucleotide variant Likely benign rs749414711 GRCh37 Chromosome 15, 23086391: 23086391
24 NIPA1 NM_144599.4(NIPA1): c.21A> G (p.Ala7=) single nucleotide variant Likely benign rs749414711 GRCh38 Chromosome 15, 22786677: 22786677
25 NIPA1 NC_000015.10: g.(?_22786632)_(22829789_?)del deletion Uncertain significance GRCh37 Chromosome 15, 23043279: 23086436
26 NIPA1 NC_000015.10: g.(?_22786632)_(22829789_?)del deletion Uncertain significance GRCh38 Chromosome 15, 22786632: 22829789
27 NIPA1 NC_000015.10: g.(?_22786632)_(22829789_?)dup duplication Uncertain significance GRCh38 Chromosome 15, 22786632: 22829789
28 NIPA1 NC_000015.10: g.(?_22786632)_(22829789_?)dup duplication Uncertain significance GRCh37 Chromosome 15, 23043279: 23086436
29 NIPA1 NM_144599.4(NIPA1): c.42_47delGGCGGC (p.Ala15_Ala16del) deletion Likely benign rs1060503779 GRCh38 Chromosome 15, 22786698: 22786703
30 NIPA1 NM_144599.4(NIPA1): c.42_47delGGCGGC (p.Ala15_Ala16del) deletion Likely benign rs1060503779 GRCh37 Chromosome 15, 23086365: 23086370
31 NIPA1 NM_144599.4(NIPA1): c.17C> G (p.Ala6Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs944860201 GRCh38 Chromosome 15, 22786673: 22786673
32 NIPA1 NM_144599.4(NIPA1): c.17C> G (p.Ala6Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs944860201 GRCh37 Chromosome 15, 23086395: 23086395
33 NIPA1 NM_144599.4(NIPA1): c.99C> T (p.Gly33=) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 23086313: 23086313
34 NIPA1 NM_144599.4(NIPA1): c.99C> T (p.Gly33=) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 22786755: 22786755
35 NIPA1 NM_144599.4(NIPA1): c.403G> A (p.Val135Met) single nucleotide variant Uncertain significance rs763295984 GRCh37 Chromosome 15, 23052670: 23052670
36 NIPA1 NM_144599.4(NIPA1): c.403G> A (p.Val135Met) single nucleotide variant Uncertain significance rs763295984 GRCh38 Chromosome 15, 22820398: 22820398
37 NIPA1 NM_144599.4(NIPA1): c.45G> A (p.Ala15=) single nucleotide variant Likely benign GRCh37 Chromosome 15, 23086367: 23086367
38 NIPA1 NM_144599.4(NIPA1): c.45G> A (p.Ala15=) single nucleotide variant Likely benign GRCh38 Chromosome 15, 22786701: 22786701
39 NIPA1 NM_144599.4(NIPA1): c.291C> A (p.Pro97=) single nucleotide variant Likely benign rs199818530 GRCh38 Chromosome 15, 22812227: 22812227
40 NIPA1 NM_144599.4(NIPA1): c.291C> A (p.Pro97=) single nucleotide variant Likely benign rs199818530 GRCh37 Chromosome 15, 23060841: 23060841
41 NIPA1 NM_144599.4(NIPA1): c.39_47dup (p.Ala16_Gly17insAlaAlaAla) duplication Uncertain significance GRCh37 Chromosome 15, 23086365: 23086373
42 NIPA1 NM_144599.4(NIPA1): c.39_47dup (p.Ala16_Gly17insAlaAlaAla) duplication Uncertain significance GRCh38 Chromosome 15, 22786695: 22786703
43 NIPA1 NM_144599.4(NIPA1): c.299C> T (p.Ala100Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 22812235: 22812235
44 NIPA1 NM_144599.4(NIPA1): c.299C> T (p.Ala100Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 23060833: 23060833
45 NIPA1 NM_144599.4(NIPA1): c.894C> T (p.Phe298=) single nucleotide variant Likely benign GRCh38 Chromosome 15, 22824143: 22824143
46 NIPA1 NM_144599.4(NIPA1): c.894C> T (p.Phe298=) single nucleotide variant Likely benign GRCh37 Chromosome 15, 23048925: 23048925
47 NIPA1 NC_000015.10: g.(?_22786657)_(23032029_?)del deletion Uncertain significance GRCh38 Chromosome 15, 22786657: 23032029
48 NIPA1 NC_000015.10: g.(?_22786657)_(23032029_?)del deletion Uncertain significance GRCh37 Chromosome 15, 22841039: 23086411
49 NIPA1 NM_144599.4(NIPA1): c.479-9G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 23049349: 23049349
50 NIPA1 NM_144599.4(NIPA1): c.479-9G> A single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 22823719: 22823719

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 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
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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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