SPG6
MCID: SPS127
MIFTS: 39

Spastic Paraplegia 6, Autosomal Dominant (SPG6)

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, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 6, Autosomal Dominant:

Name: Spastic Paraplegia 6, Autosomal Dominant 57 75 13 73
Spg6 57 12 59 75
Fsp3 57 12 75
Autosomal Dominant Spastic Paraplegia Type 6 12 59
Hereditary Spastic Paraplegia 6 12 15
Familial Spastic Paraplegia, Autosomal Dominant, 3; Fsp3 57
Autosomal Dominant Familial Spastic Paraplegia Type 3 12
Familial Spastic Paraplegia, Autosomal Dominant, 3 57
Familial Spastic Paraplegia Autosomal Dominant 3 75
Autosomal Dominant Spastic Paraplegia 6 12

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant spastic paraplegia type 6
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
progressive disorder
insidious onset
genetic heterogeneity, see spg3a
mean age at onset 16.5 years (range 9 to 35 years)


HPO:

32
spastic paraplegia 6, autosomal dominant:
Onset and clinical course variable expressivity insidious onset progressive
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 600363
Disease Ontology 12 DOID:0110811
ICD10 33 G11.4
Orphanet 59 ORPHA100988
MESH via Orphanet 45 C536866
UMLS via Orphanet 74 C1838192
ICD10 via Orphanet 34 G11.4
MedGen 42 C1838192
MeSH 44 D015419
UMLS 73 C1838192

Summaries for Spastic Paraplegia 6, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 Spastic paraplegia 6, autosomal dominant: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.

MalaCards based summary : Spastic Paraplegia 6, Autosomal Dominant, also known as spg6, is related to paraplegia and hereditary spastic paraplegia, and has symptoms including clonus and urgency of micturition. An important gene associated with Spastic Paraplegia 6, Autosomal Dominant is NIPA1 (NIPA Magnesium Transporter 1). Affiliated tissues include skin, bone and eye, and related phenotypes are gait disturbance and skeletal muscle atrophy

Disease Ontology : 12 A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has material basis in mutation in the NIPA1 gene on chromosome 15q11.2.

Description from OMIM: 600363

Related Diseases for Spastic Paraplegia 6, 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
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, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 paraplegia 29.0 AP5Z1 ATL1 ERLIN2 KIF5A NIPA1 REEP1
2 hereditary spastic paraplegia 28.9 AP5Z1 ATL1 ERLIN2 KIF5A NIPA1 REEP1
3 spastic paraplegia 6 11.3
4 spastic paraplegia 10 10.0 KIF5A SPAST
5 leukemia, acute myeloid 10.0
6 myeloid leukemia 10.0
7 spastic paraplegia 44, autosomal recessive 9.9 AP5Z1 SLC33A1
8 spastic paraplegia 33, autosomal dominant 9.9 AP5Z1 REEP1 SPAST
9 spastic paraplegia 61, autosomal recessive 9.8 ATL1 REEP1 SPAST
10 spastic paraplegia 2, x-linked 9.8 AP5Z1 ATL1 REEP1
11 spastic paraplegia 48, autosomal recessive 9.8 AP5Z1 ERLIN2
12 spastic paraplegia 3, autosomal dominant 9.8 ATL1 NIPA1 REEP1 SPAST
13 spastic paraplegia 31, autosomal dominant 9.7 AP5Z1 ATL1 REEP1 SPAST
14 spastic paraplegia 35, autosomal recessive 9.7 AP5Z1 ERLIN2
15 spastic paraplegia 47, autosomal recessive 9.7 AP5Z1 ERLIN2 REEP1
16 spastic paraplegia 10, autosomal dominant 9.7 AP5Z1 ATL1 KIF5A REEP1
17 spastic paraplegia 39, autosomal recessive 9.7 AP5Z1 ERLIN2 REEP1
18 spastic paraplegia 30, autosomal recessive 9.7 AP5Z1 ERLIN2 REEP1
19 spastic paraplegia 13, autosomal dominant 9.6 AP5Z1 ATL1 ERLIN2 SPAST
20 masa syndrome 9.6 AP5Z1 ATL1 NIPA1 REEP1 SPAST
21 spastic paraplegia 18, autosomal recessive 9.6 AP5Z1 ERLIN2 NIPA1 REEP1
22 spastic paraplegia 8, autosomal dominant 9.5 AP5Z1 ATL1 ERLIN2 NIPA1 REEP1
23 spastic paraplegia 42, autosomal dominant 9.4 AP5Z1 ERLIN2 NIPA1 REEP1 SLC33A1
24 spastic paraplegia 4, autosomal dominant 9.3 ATL1 ERLIN2 NIPA1 REEP1 SLC33A1 SPAST
25 spastic paraplegia 12, autosomal dominant 9.3 AP5Z1 ATL1 ERLIN2 KIF5A REEP1 SPAST

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



Diseases related to Spastic Paraplegia 6, Autosomal Dominant

Symptoms & Phenotypes for Spastic Paraplegia 6, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
clonus
lower limb spasticity
spastic gait
extensor plantar responses
more
Genitourinary Bladder:
urinary urgency
urinary incontinence
sphincter disturbances

Skeletal Feet:
pes cavus


Clinical features from OMIM:

600363

Human phenotypes related to Spastic Paraplegia 6, Autosomal Dominant:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
2 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
3 babinski sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003487
4 pes cavus 59 32 frequent (33%) Frequent (79-30%) HP:0001761
5 generalized tonic-clonic seizures 59 32 frequent (33%) Frequent (79-30%) HP:0002069
6 postural tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002174
7 spastic paraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001258
8 lower limb spasticity 59 32 Very frequent (99-80%) HP:0002061
9 urinary incontinence 59 32 occasional (7.5%) Occasional (29-5%) HP:0000020
10 limited hip movement 59 32 frequent (33%) Frequent (79-30%) HP:0008800
11 impaired vibratory sensation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002495
12 lower limb hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002395
13 limitation of movement at ankles 59 32 frequent (33%) Frequent (79-30%) HP:0010505
14 seizures 32 HP:0001250
15 tremor 32 occasional (7.5%) HP:0001337
16 clonus 32 HP:0002169
17 urinary bladder sphincter dysfunction 32 HP:0002839
18 lower limb muscle weakness 32 HP:0007340
19 impaired vibration sensation in the lower limbs 32 HP:0002166
20 degeneration of the lateral corticospinal tracts 32 HP:0002314
21 urinary urgency 32 HP:0000012
22 spastic gait 32 HP:0002064

UMLS symptoms related to Spastic Paraplegia 6, Autosomal Dominant:


clonus, urgency of micturition

Drugs & Therapeutics for Spastic Paraplegia 6, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 6, Autosomal Dominant

Genetic Tests for Spastic Paraplegia 6, Autosomal Dominant

Anatomical Context for Spastic Paraplegia 6, Autosomal Dominant

MalaCards organs/tissues related to Spastic Paraplegia 6, Autosomal Dominant:

41
Skin, Bone, Eye, Skeletal Muscle, Myeloid

Publications for Spastic Paraplegia 6, Autosomal Dominant

Articles related to Spastic Paraplegia 6, Autosomal Dominant:

# Title Authors Year
1
SPG6 supports development of acute myeloid leukemia by regulating BMPR2-Smad-Bcl-2/Bcl-xl signaling. ( 29715457 )
2018

Variations for Spastic Paraplegia 6, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 6, Autosomal Dominant:

75
# Symbol AA change Variation ID SNP ID
1 NIPA1 p.Thr45Arg VAR_023440 rs104894496
2 NIPA1 p.Gly106Arg VAR_023441 rs104894490

ClinVar genetic disease variations for Spastic Paraplegia 6, Autosomal Dominant:

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, Autosomal Dominant

Search GEO for disease gene expression data for Spastic Paraplegia 6, Autosomal Dominant.

Pathways for Spastic Paraplegia 6, Autosomal Dominant

GO Terms for Spastic Paraplegia 6, Autosomal Dominant

Cellular components related to Spastic Paraplegia 6, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.55 ATL1 ERLIN2 REEP1 SLC33A1 SPAST
2 axon cytoplasm GO:1904115 9.26 KIF5A SPAST
3 endoplasmic reticulum membrane GO:0005789 9.02 ATL1 ERLIN2 REEP1 SLC33A1 SPAST
4 endoplasmic reticulum tubular network GO:0071782 8.96 ATL1 REEP1

Biological processes related to Spastic Paraplegia 6, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.13 ERLIN2 NIPA1 SLC33A1
2 axonogenesis GO:0007409 8.62 ATL1 SPAST

Molecular functions related to Spastic Paraplegia 6, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 8.8 KIF5A REEP1 SPAST

Sources for Spastic Paraplegia 6, Autosomal Dominant

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