SPG6
MCID: SPS127
MIFTS: 48

Spastic Paraplegia 6, Autosomal Dominant (SPG6)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory 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 72 13 70
Hereditary Spastic Paraplegia 6 12 29 6 15
Spg6 57 12 58 72
Fsp3 57 12 72
Autosomal Dominant Spastic Paraplegia Type 6 12 58
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 72
Autosomal Dominant Spastic Paraplegia 6 12

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant spastic paraplegia type 6
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
insidious onset
variable severity
progressive disorder
genetic heterogeneity, see spg3a
mean age at onset 16.5 years (range 9 to 35 years)

Inheritance:
autosomal dominant


HPO:

31
spastic paraplegia 6, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity progressive insidious onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110811
OMIM® 57 600363
OMIM Phenotypic Series 57 PS303350
MeSH 44 D015419
ICD10 32 G11.4
MESH via Orphanet 45 C536866
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 71 C1838192
Orphanet 58 ORPHA100988
MedGen 41 C1838192
UMLS 70 C1838192

Summaries for Spastic Paraplegia 6, Autosomal Dominant

UniProtKB/Swiss-Prot : 72 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 hereditary spastic paraplegia 6, is related to spasticity and neuropathy, 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), and among its related pathways/superpathways are Endocytosis and Miscellaneous transport and binding events. Affiliated tissues include skeletal muscle, spinal cord and myeloid, and related phenotypes are gait disturbance and spastic paraplegia

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.

More information from OMIM: 600363 PS303350

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, 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
Spastic Paraplegia 83, 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, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 91)
# Related Disease Score Top Affiliating Genes
1 spasticity 30.0 WASHC5 SPG7 SPAST
2 neuropathy 29.3 ZFYVE26 SPG7 SPG11 KIF5A ATL1
3 spastic paraplegia 3, autosomal dominant 29.0 WASHC5 SPG7 SPG11 SPAST REEP1 NIPA1
4 paraplegia 27.0 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
5 hereditary spastic paraplegia 26.9 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
6 spastic paraplegia 31, autosomal dominant 26.5 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
7 spastic paraplegia 4, autosomal dominant 26.2 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
8 spastic paraplegia 6 11.4
9 rapidly involuting congenital hemangioma 10.1
10 neuropathy, hereditary sensory, type id 10.1 SPAST KIF5A ATL1
11 spastic paraplegia 27, autosomal recessive 10.1 SPG21 SLC33A1
12 spastic paraplegia 41, autosomal dominant 10.1 SPG21 SPAST KIF5A
13 spastic paraplegia 73, autosomal dominant 10.1 SPG21 REEP1 ATL1
14 neuropathy, hereditary sensory, type iic 10.1 SPG21 SPG11 REEP1
15 pure hereditary spastic paraplegia 10.1 SPAST NIPA1 KIF5A ATL1
16 spastic paraplegia 57, autosomal recessive 10.0 SPG11 REEP1 KIF5A
17 spastic paraplegia 45, autosomal recessive 10.0 SPG21 SPG11 SPART
18 complex hereditary spastic paraplegia 10.0 SPG7 SPG11 NIPA1
19 charcot-marie-tooth disease, axonal, type 2r 10.0 ZFYVE26 SPG21
20 angelman syndrome 10.0
21 spastic paraplegia 7, autosomal recessive 10.0 SPG7 SPG11
22 spastic paraplegia 63, autosomal recessive 10.0 SPG7 SPG21 SPG11
23 spastic paraparesis 10.0 SPG7 SPG11 SPAST
24 spastic paraplegia 64, autosomal recessive 10.0 ZFYVE26 SPG21 SPG11
25 spastic paraplegia 43, autosomal recessive 10.0 SPG11 SPAST SLC33A1 ATL1
26 spinal muscular atrophy, distal, autosomal recessive, 2 9.9 REEP1 BSCL2
27 charcot-marie-tooth disease, axonal, type 2t 9.9 ZFYVE26 SPG21
28 spastic paraplegia, optic atrophy, and neuropathy 9.9 WASHC5 ATL1 AP5Z1
29 spinal cord neuroblastoma 9.9 ZFYVE27 REEP1
30 spinal cord primitive neuroectodermal neoplasm 9.9 ZFYVE27 REEP1
31 nescav syndrome 9.9 ZFYVE26 REEP1 AP5Z1
32 neuronopathy, distal hereditary motor, type va 9.9 SPART REEP1 BSCL2 ATL1
33 candidiasis, familial, 1 9.9
34 leukemia, acute myeloid 9.9
35 leukemia 9.9
36 acute leukemia 9.9
37 motor neuron disease 9.9
38 peripheral nervous system disease 9.9
39 myeloid leukemia 9.9
40 spastic paraplegia 3a 9.9
41 spastic paraplegia 4 9.9
42 axonal neuropathy 9.9 ZFYVE26 SPG11 KIF5A
43 amyotrophic lateral sclerosis type 5 9.8 ZFYVE26 SPG11 AP5Z1
44 spastic paraplegia 29, autosomal dominant 9.8 ZFYVE26 WASHC5 SPG21 SLC33A1
45 spastic paraplegia 53, autosomal recessive 9.8 WASHC5 SLC33A1 ATL1 AP5Z1
46 spinocerebellar ataxia, autosomal recessive 20 9.8 ZFYVE26 SPG11 BSCL2
47 autosomal dominant distal hereditary motor neuronopathy 9.8 REEP1 BSCL2
48 spastic paraplegia 49, autosomal recessive 9.8 ZFYVE26 SPG7 SPG21 SPG11
49 spastic paraplegia 55, autosomal recessive 9.8 ZFYVE26 SPG7 SPG21 SPG11
50 spastic paraplegia 37, autosomal dominant 9.7 ZFYVE26 SPG21 SPART SLC33A1 REEP1

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

Human phenotypes related to Spastic Paraplegia 6, Autosomal Dominant:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
2 spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001258
3 impaired vibratory sensation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002495
4 babinski sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0003487
5 lower limb hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002395
6 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
7 pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0001761
8 limited hip movement 58 31 frequent (33%) Frequent (79-30%) HP:0008800
9 limitation of movement at ankles 58 31 frequent (33%) Frequent (79-30%) HP:0010505
10 bilateral tonic-clonic seizure 31 frequent (33%) HP:0002069
11 urinary incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000020
12 postural tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002174
13 tremor 31 occasional (7.5%) HP:0001337
14 lower limb spasticity 58 31 Very frequent (99-80%) HP:0002061
15 clonus 31 HP:0002169
16 generalized tonic-clonic seizures 58 Frequent (79-30%)
17 spastic gait 31 HP:0002064
18 urinary urgency 31 HP:0000012
19 urinary bladder sphincter dysfunction 31 HP:0002839
20 lower limb muscle weakness 31 HP:0007340
21 impaired vibration sensation in the lower limbs 31 HP:0002166
22 degeneration of the lateral corticospinal tracts 31 HP:0002314
23 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
clonus
lower limb spasticity
spastic gait
extensor plantar responses
more
Genitourinary Bladder:
urinary incontinence
urinary urgency
sphincter disturbances

Skeletal Feet:
pes cavus

Clinical features from OMIM®:

600363 (Updated 05-Apr-2021)

UMLS symptoms related to Spastic Paraplegia 6, Autosomal Dominant:


clonus; urgency of micturition

MGI Mouse Phenotypes related to Spastic Paraplegia 6, Autosomal Dominant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 AP5Z1 ATL1 BSCL2 KIF5A REEP1 SLC33A1
2 cellular MP:0005384 9.61 AP5Z1 BSCL2 KIF5A REEP1 SLC33A1 SPG11
3 nervous system MP:0003631 9.36 AP5Z1 BSCL2 KIF5A REEP1 SLC33A1 SPAST

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

Genetic tests related to Spastic Paraplegia 6, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Hereditary Spastic Paraplegia 6 29 NIPA1

Anatomical Context for Spastic Paraplegia 6, Autosomal Dominant

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

40
Skeletal Muscle, Spinal Cord, Myeloid

Publications for Spastic Paraplegia 6, Autosomal Dominant

Articles related to Spastic Paraplegia 6, Autosomal Dominant:

(show all 47)
# Title Authors PMID Year
1
NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). 61 6 57
14508710 2003
2
A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. 6 57
15711826 2005
3
Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q. 6 57
7825577 1995
4
Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China. 6 61
25341883 2014
5
Pathogenesis of autosomal dominant hereditary spastic paraplegia (SPG6) revealed by a rat model. 61 6
24128679 2013
6
A diagnostic gene chip for hereditary spastic paraplegias. 61 6
23850684 2013
7
TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation. 61 6
22302102 2012
8
NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy. 6 61
21599812 2011
9
Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1. 6 61
21419568 2011
10
Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia. 61 6
17928003 2008
11
NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter. 61 6
17166836 2007
12
Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus). 61 6
16267846 2006
13
Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families. 6 61
15643603 2005
14
Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands. 6
27084228 2016
15
Recurrent de novo c.316G>A mutation in NIPA1 hotspot. 6
24075313 2013
16
The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1. 6
20816793 2011
17
The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling. 6
19620182 2009
18
Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism. 6
19091982 2008
19
Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. 57
14508708 2003
20
Hereditary spastic paraplegia: LOD-score considerations for confirmation of linkage in a heterogeneous trait. 57
9042923 1997
21
Hereditary spastic paraplegia linked to chromosome 15q: Analysis of candidate genes. 57
8618696 1996
22
Autosomal dominant, familial spastic paraplegia, type I: clinical and genetic analysis of a large North American family. 57
7854534 1995
23
Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families. 57
7310405 1981
24
Is NIPA1-associated hereditary spastic paraplegia always 'pure'? Further evidence of motor neurone disease and epilepsy as rare manifestations. 61
32500351 2020
25
Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia. 61
31630374 2019
26
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China. 61
29980238 2018
27
SPG6 supports development of acute myeloid leukemia by regulating BMPR2-Smad-Bcl-2/Bcl-xl signaling. 61
29715457 2018
28
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 61
23897027 2013
29
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 61
22554690 2012
30
Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence. 61
19652142 2009
31
Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots. 61
18191948 2008
32
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. 61
18364116 2008
33
NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe. 61
17205300 2007
34
[SPG3A-hereditary spastin paraplegia with genetic anticipation and incomplete penetrance]. 61
17285536 2007
35
Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia. 61
16795073 2006
36
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. 61
16682546 2006
37
Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia. 61
16143870 2005
38
Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. 61
15317751 2004
39
Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. 61
10797436 2000
40
Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity. 61
10563637 1999
41
Isolation of CAG/CTG repeats from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPG4) by YAC fragmentation. 61
10987648 1999
42
Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q. 61
9847083 1998
43
CAG repeat expansion in autosomal dominant familial spastic paraparesis: novel expansion in a subset of patients. 61
9736780 1998
44
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. 61
9634528 1998
45
[Clinical and molecular genetic analysis of 4 Swiss families with the pure form of hereditary spastic spinal paralysis]. 61
9700778 1998
46
Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p. 61
9507385 1998
47
Pure familial spastic paraplegia: clinical and genetic analysis of nine Belgian pedigrees. 61
8946171 1996

Variations for Spastic Paraplegia 6, Autosomal Dominant

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

6 (show top 50) (show all 178)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NIPA1 NM_144599.5(NIPA1):c.134C>G (p.Thr45Arg) SNV Pathogenic 2520 rs104894496 GRCh37: 15:23086278-23086278
GRCh38: 15:22786790-22786790
2 NIPA1 NM_144599.5(NIPA1):c.316G>C (p.Gly106Arg) SNV Pathogenic 2521 rs104894490 GRCh37: 15:23060816-23060816
GRCh38: 15:22812252-22812252
3 NIPA1 NM_144599.5(NIPA1):c.731A>G (p.Gln244Arg) SNV Pathogenic 948417 GRCh37: 15:23049088-23049088
GRCh38: 15:22823980-22823980
4 NIPA1 NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg) SNV Pathogenic 2523 rs104894490 GRCh37: 15:23060816-23060816
GRCh38: 15:22812252-22812252
5 NIPA1 NM_144599.5(NIPA1):c.277del (p.Val93fs) Deletion Pathogenic 1032444 GRCh37: 15:23060855-23060855
GRCh38: 15:22812212-22812212
6 NIPA1 NM_144599.5(NIPA1):c.21A>G (p.Ala7=) SNV Conflicting interpretations of pathogenicity 380931 rs749414711 GRCh37: 15:23086391-23086391
GRCh38: 15:22786677-22786677
7 NIPA1 NM_144599.5(NIPA1):c.*1703C>T SNV Uncertain significance 885023 GRCh37: 15:23047126-23047126
GRCh38: 15:22825942-22825942
8 NIPA1 NM_144599.5(NIPA1):c.*1529C>T SNV Uncertain significance 885024 GRCh37: 15:23047300-23047300
GRCh38: 15:22825768-22825768
9 NIPA1 NM_144599.5(NIPA1):c.*138G>A SNV Uncertain significance 885081 GRCh37: 15:23048691-23048691
GRCh38: 15:22824377-22824377
10 NIPA1 NM_144599.5(NIPA1):c.*5362A>G SNV Uncertain significance 885735 GRCh37: 15:23043467-23043467
GRCh38: 15:22829601-22829601
11 NIPA1 NM_144599.5(NIPA1):c.*3110C>T SNV Uncertain significance 884957 GRCh37: 15:23045719-23045719
GRCh38: 15:22827349-22827349
12 NIPA1 NM_144599.5(NIPA1):c.*2942G>A SNV Uncertain significance 884958 GRCh37: 15:23045887-23045887
GRCh38: 15:22827181-22827181
13 NIPA1 NM_144599.5(NIPA1):c.267G>A (p.Ala89=) SNV Uncertain significance 885998 GRCh37: 15:23060865-23060865
GRCh38: 15:22812203-22812203
14 NIPA1 NM_144599.5(NIPA1):c.*3885C>T SNV Uncertain significance 886808 GRCh37: 15:23044944-23044944
GRCh38: 15:22828124-22828124
15 NIPA1 NM_144599.5(NIPA1):c.*3848C>T SNV Uncertain significance 886809 GRCh37: 15:23044981-23044981
GRCh38: 15:22828087-22828087
16 NIPA1 NM_144599.5(NIPA1):c.*3838G>A SNV Uncertain significance 886810 GRCh37: 15:23044991-23044991
GRCh38: 15:22828077-22828077
17 NIPA1 NM_144599.5(NIPA1):c.*3705C>T SNV Uncertain significance 886811 GRCh37: 15:23045124-23045124
GRCh38: 15:22827944-22827944
18 NIPA1 NM_144599.5(NIPA1):c.*3703T>G SNV Uncertain significance 886812 GRCh37: 15:23045126-23045126
GRCh38: 15:22827942-22827942
19 NIPA1 NM_144599.5(NIPA1):c.*2246G>A SNV Uncertain significance 886863 GRCh37: 15:23046583-23046583
GRCh38: 15:22826485-22826485
20 NIPA1 NM_144599.5(NIPA1):c.*2112A>G SNV Uncertain significance 886864 GRCh37: 15:23046717-23046717
GRCh38: 15:22826351-22826351
21 NIPA1 NM_144599.5(NIPA1):c.*709G>A SNV Uncertain significance 886939 GRCh37: 15:23048120-23048120
GRCh38: 15:22824948-22824948
22 NIPA1 NM_144599.5(NIPA1):c.242T>C (p.Ile81Thr) SNV Uncertain significance 886999 GRCh37: 15:23060890-23060890
GRCh38: 15:22812178-22812178
23 NIPA1 NM_144599.5(NIPA1):c.222C>G (p.Ile74Met) SNV Uncertain significance 887000 GRCh37: 15:23062276-23062276
GRCh38: 15:22810792-22810792
24 NIPA1 NM_144599.5(NIPA1):c.150G>A (p.Lys50=) SNV Uncertain significance 887001 GRCh37: 15:23086262-23086262
GRCh38: 15:22786806-22786806
25 NIPA1 NM_144599.5(NIPA1):c.49G>A (p.Gly17Arg) SNV Uncertain significance 887002 GRCh37: 15:23086363-23086363
GRCh38: 15:22786705-22786705
26 NIPA1 NM_144599.5(NIPA1):c.17C>A (p.Ala6Glu) SNV Uncertain significance 887003 GRCh37: 15:23086395-23086395
GRCh38: 15:22786673-22786673
27 NIPA1 NM_144599.5(NIPA1):c.8C>T (p.Thr3Ile) SNV Uncertain significance 887004 GRCh37: 15:23086404-23086404
GRCh38: 15:22786664-22786664
28 NIPA1 NM_144599.5(NIPA1):c.1A>G (p.Met1Val) SNV Uncertain significance 887005 GRCh37: 15:23086411-23086411
GRCh38: 15:22786657-22786657
29 NIPA1 NM_144599.5(NIPA1):c.*4914G>T SNV Uncertain significance 888009 GRCh37: 15:23043915-23043915
GRCh38: 15:22829153-22829153
30 NIPA1 NM_144599.5(NIPA1):c.*3280A>G SNV Uncertain significance 888089 GRCh37: 15:23045549-23045549
GRCh38: 15:22827519-22827519
31 NIPA1 NM_144599.5(NIPA1):c.*2020C>T SNV Uncertain significance 888142 GRCh37: 15:23046809-23046809
GRCh38: 15:22826259-22826259
32 NIPA1 NM_144599.5(NIPA1):c.*647A>G SNV Uncertain significance 888199 GRCh37: 15:23048182-23048182
GRCh38: 15:22824886-22824886
33 NIPA1 NM_144599.5(NIPA1):c.*553C>A SNV Uncertain significance 888200 GRCh37: 15:23048276-23048276
GRCh38: 15:22824792-22824792
34 NIPA1 NM_144599.5(NIPA1):c.*531T>G SNV Uncertain significance 888201 GRCh37: 15:23048298-23048298
GRCh38: 15:22824770-22824770
35 NIPA1 NM_144599.5(NIPA1):c.*414C>T SNV Uncertain significance 888202 GRCh37: 15:23048415-23048415
GRCh38: 15:22824653-22824653
36 NIPA1 NM_144599.5(NIPA1):c.*201A>G SNV Uncertain significance 888203 GRCh37: 15:23048628-23048628
GRCh38: 15:22824440-22824440
37 NIPA1 NM_144599.5(NIPA1):c.178+9G>A SNV Uncertain significance 930279 GRCh37: 15:23086225-23086225
GRCh38: 15:22786843-22786843
38 NIPA1 NM_144599.5(NIPA1):c.*2106T>C SNV Uncertain significance 315384 rs886050998 GRCh37: 15:23046723-23046723
GRCh38: 15:22826345-22826345
39 NIPA1 NC_000015.9:g.(?_23043279)_(23086436_?)dup Duplication Uncertain significance 417310 GRCh37: 15:23043279-23086436
GRCh38: 15:22786632-22829789
40 NIPA1 NC_000015.10:g.(?_22786632)_(22829789_?)del Deletion Uncertain significance 417311 GRCh37: 15:23043279-23086436
GRCh38: 15:22786632-22829789
41 NIPA1 NM_144599.5(NIPA1):c.99C>T (p.Gly33=) SNV Uncertain significance 464775 rs1370367415 GRCh37: 15:23086313-23086313
GRCh38: 15:22786755-22786755
42 NIPA1 NM_144599.5(NIPA1):c.403G>A (p.Val135Met) SNV Uncertain significance 533363 rs763295984 GRCh37: 15:23052670-23052670
GRCh38: 15:22820398-22820398
43 NIPA1 NM_144599.5(NIPA1):c.299C>T (p.Ala100Val) SNV Uncertain significance 533364 rs1356799862 GRCh37: 15:23060833-23060833
GRCh38: 15:22812235-22812235
44 NIPA1 NM_144599.5(NIPA1):c.479-9G>A SNV Uncertain significance 573451 rs1566789035 GRCh37: 15:23049349-23049349
GRCh38: 15:22823719-22823719
45 overlap with 5 genes NC_000015.10:g.(?_22786657)_(23032029_?)del Deletion Uncertain significance 583459 GRCh37: 15:22841039-23086411
GRCh38: 15:22786657-23032029
46 NIPA1 NC_000015.10:g.(?_22786637)_(22824259_?)del Deletion Uncertain significance 583526 GRCh37: 15:23048809-23086431
GRCh38: 15:22786637-22824259
47 NIPA1 NM_144599.5(NIPA1):c.24_26GGC[3] (p.Ala12_Ala16del) Microsatellite Uncertain significance 642752 rs531550505 GRCh37: 15:23086365-23086379
GRCh38: 15:22786678-22786692
48 NIPA1 NC_000015.9:g.(?_23048819)_(23086421_?)dup Duplication Uncertain significance 644274 GRCh37: 15:23048819-23086421
GRCh38: 15:22786647-22824249
49 NIPA1 NC_000015.10:g.(?_22786637)_(22812273_?)del Deletion Uncertain significance 647476 GRCh37: 15:23060795-23086431
GRCh38: 15:22786637-22812273
50 NIPA1 NC_000015.10:g.(?_22786647)_(22824249_?)del Deletion Uncertain significance 650698 GRCh37: 15:23048819-23086421
GRCh38: 15:22786647-22824249

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

72
# Symbol AA change Variation ID SNP ID
1 NIPA1 p.Thr45Arg VAR_023440 rs104894496
2 NIPA1 p.Gly106Arg VAR_023441 rs104894490

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

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

# Super pathways Score Top Affiliating Genes
1 11.42 ZFYVE27 WASHC5 SPG21 SPART KIF5A
2 10.23 NIPAL1 NIPA1

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 endosome GO:0005768 9.77 ZFYVE27 WASHC5 SPG21 SPAST NIPA1
2 endoplasmic reticulum membrane GO:0005789 9.73 ZFYVE27 SPAST SLC33A1 REEP1 BSCL2 ATL1
3 endoplasmic reticulum GO:0005783 9.7 ZFYVE27 WASHC5 SPAST SLC33A1 REEP1 BSCL2
4 midbody GO:0030496 9.58 ZFYVE26 SPAST SPART
5 lipid droplet GO:0005811 9.5 SPAST SPART BSCL2
6 axon cytoplasm GO:1904115 9.13 SPG7 SPAST KIF5A
7 endoplasmic reticulum tubular network GO:0071782 8.92 ZFYVE27 SPAST REEP1 ATL1

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

# Name GO ID Score Top Affiliating Genes
1 anterograde axonal transport GO:0008089 9.32 SPG7 SPAST
2 lipid droplet organization GO:0034389 9.26 SPART BSCL2
3 synaptic vesicle transport GO:0048489 9.16 SPG11 KIF5A
4 magnesium ion transmembrane transport GO:1903830 8.96 NIPAL1 NIPA1
5 magnesium ion transport GO:0015693 8.62 NIPAL1 NIPA1

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

# Name GO ID Score Top Affiliating Genes
1 magnesium ion transmembrane transporter activity GO:0015095 8.62 NIPAL1 NIPA1

Sources for Spastic Paraplegia 6, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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