SPG45
MCID: SPS114
MIFTS: 36

Spastic Paraplegia 45, Autosomal Recessive (SPG45)

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 45, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 45, Autosomal Recessive:

Name: Spastic Paraplegia 45, Autosomal Recessive 57 72 29 13 6 70
Spg45 57 12 58 72
Autosomal Recessive Spastic Paraplegia Type 45 12 58
Autosomal Recessive Spastic Paraplegia Type 65 12 58
Hereditary Spastic Paraplegia 45 12 15
Spg65 12 58
Paraplegia, Spastic, Type 45, Autosomal Recessive 39
Autosomal Recessive Spastic Paraplegia 45 12

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic paraplegia type 45
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in the first 2 years of life


HPO:

31
spastic paraplegia 45, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spastic Paraplegia 45, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 Spastic paraplegia 45, autosomal recessive: 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. Some SPG45 patients manifest mental retardation, contractures and learning disability.

MalaCards based summary : Spastic Paraplegia 45, Autosomal Recessive, also known as spg45, is related to complex hereditary spastic paraplegia and paraplegia. An important gene associated with Spastic Paraplegia 45, Autosomal Recessive is NT5C2 (5'-Nucleotidase, Cytosolic II). Related phenotypes are intellectual disability and flexion contracture of toe

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the NT5C2 gene on chromosome 10q24.

More information from OMIM: 613162 PS303350

Related Diseases for Spastic Paraplegia 45, Autosomal Recessive

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 45, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 complex hereditary spastic paraplegia 30.1 SPG11 DDHD2
2 paraplegia 28.8 SPG21 SPG11 SPART NT5C2 ERLIN1 DDHD2
3 hereditary spastic paraplegia 27.7 ZFR SPG21 SPG11 SPART PGAP1 NT5C2
4 spastic paraplegia 62, autosomal recessive 10.1 PGAP1 ERLIN1
5 spastic paraplegia 75, autosomal recessive 10.1 PGAP1 ERLIN1
6 spastic paraplegia 16, x-linked 10.1 SPG21 SPG11
7 spastic paraplegia 28, autosomal recessive 10.1 SPG11 DDHD2
8 spastic paraplegia 14, autosomal recessive 10.1 SPG21 SPG11
9 spastic paraplegia 61, autosomal recessive 10.1 SPG21 SPG11
10 spastic paraplegia 55, autosomal recessive 10.1 SPG21 SPG11
11 spasticity 10.1
12 spinocerebellar ataxia, autosomal recessive 20 10.1 SPG11 DDHD2
13 spastic paraplegia 11, autosomal recessive 10.1 SPG21 SPG11
14 spastic paraplegia 12, autosomal dominant 10.0 SPG21 SPG11
15 spastic paraplegia 64, autosomal recessive 10.0 SPG21 SPG11 PGAP1
16 spastic paraplegia 76, autosomal recessive 10.0 SPG11 KIF1C
17 spastic paraplegia 13, autosomal dominant 10.0 SPG21 SPG11
18 spastic paraplegia 44, autosomal recessive 10.0 SPG21 SPG11 PGAP1
19 spastic paraplegia 49, autosomal recessive 10.0 SPG21 SPG11 DDHD2
20 spastic paraplegia 24, autosomal recessive 10.0 SPG21 KIF1C
21 spastic paraplegia 54, autosomal recessive 10.0 SPG21 SPG11 DDHD2
22 spastic paraplegia 48, autosomal recessive 10.0 SPG21 SPG11 DDHD2
23 spastic paraplegia 36, autosomal dominant 9.9 SPG21 KIF1C
24 spastic paraplegia 42, autosomal dominant 9.9 SPG11 SPART
25 spastic paraplegia 18, autosomal recessive 9.9 SPG21 SPG11 ERLIN1
26 spastic paraplegia 35, autosomal recessive 9.9 SPG21 SPG11 DDHD2
27 hypotonia 9.9
28 juvenile amyotrophic lateral sclerosis 9.9 SPG11 ERLIN1
29 neuropathy, hereditary sensory, type iic 9.9 SPG21 SPG11 AP4E1
30 spastic paraplegia 50, autosomal recessive 9.9 SPG21 SPG11 AP4E1
31 spastic paraplegia 33, autosomal dominant 9.9 SPG21 SPG11 SPART
32 spastic paraplegia 6, autosomal dominant 9.9 SPG21 SPG11 SPART
33 mast syndrome 9.9 SPG21 SPG11 SPART
34 spastic paraplegia 31, autosomal dominant 9.9 SPG21 SPG11 SPART
35 spastic paraplegia 47, autosomal recessive 9.9 SPG21 SPG11 AP4E1
36 spastic paraplegia 8, autosomal dominant 9.9 SPG21 SPG11 SPART
37 spastic paraplegia 10, autosomal dominant 9.9 SPG21 SPG11 SPART
38 spastic paraplegia 4, autosomal dominant 9.8 SPG21 SPG11 SPART
39 spastic paraplegia 17, autosomal dominant 9.8 SPG21 SPG11 SPART
40 spastic paraplegia 37, autosomal dominant 9.8 SPG21 SPART ERLIN1
41 hereditary spastic paraplegia 30 9.8 SPG21 SPG11 KIF1C
42 spastic paraplegia 20, autosomal recessive 9.8 SPG21 SPART
43 spastic paraplegia 73, autosomal dominant 9.8 SPG21 KIF1C DDHD2
44 hereditary spastic paraplegia 51 9.7 SPG21 SPG11 PGAP1 AP4E1
45 spastic paraplegia 52, autosomal recessive 9.7 SPG21 SPG11 PGAP1 AP4E1
46 spastic paraplegia 26, autosomal recessive 9.7 SPG21 SPG11 SPART PGAP1
47 spastic paraplegia 32, autosomal recessive 9.7 ZFR SPG21 SPG11 AP4E1
48 spastic paraplegia 39, autosomal recessive 9.7 SPG21 SPG11 SPART DDHD2
49 spastic paraplegia 15, autosomal recessive 9.7 SPG21 SPG11 SPART DDHD2
50 masa syndrome 9.7 SPG21 SPG11 SPART DDHD2

Graphical network of the top 20 diseases related to Spastic Paraplegia 45, Autosomal Recessive:



Diseases related to Spastic Paraplegia 45, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 45, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 45, Autosomal Recessive:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 flexion contracture of toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0005830
3 spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001258
4 babinski sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0003487
5 ankle flexion contracture 58 31 hallmark (90%) Very frequent (99-80%) HP:0006466
6 knee flexion contracture 58 31 hallmark (90%) Very frequent (99-80%) HP:0006380
7 spastic gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0002064
8 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
9 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
10 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
11 pendular nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0012043
12 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
13 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
14 talipes equinovarus 31 occasional (7.5%) HP:0001762
15 nystagmus 31 HP:0000639
16 flexion contracture 31 HP:0001371
17 hypoplasia of the corpus callosum 31 HP:0002079
18 lower limb spasticity 58 Very frequent (99-80%)
19 dysplastic corpus callosum 31 HP:0006989

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
lower limb spasticity
spastic gait
dysplastic corpus callosum
delayed motor development
more
Skeletal Feet:
pes equinovarus (in some patients)

Skeletal Limbs:
contractures (in some patients)
hyperextension of knees (in some patients)

Clinical features from OMIM®:

613162 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spastic Paraplegia 45, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 45, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 45, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 45, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 45, Autosomal Recessive 29 NT5C2

Anatomical Context for Spastic Paraplegia 45, Autosomal Recessive

Publications for Spastic Paraplegia 45, Autosomal Recessive

Articles related to Spastic Paraplegia 45, Autosomal Recessive:

# Title Authors PMID Year
1
Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1. 57 6 61
19415352 2009
2
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 6 57
24482476 2014
3
Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia. 61 6
29123918 2017
4
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. 6
32214227 2020
5
Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. 61
28884889 2017
6
NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup. 61
28327087 2017

Variations for Spastic Paraplegia 45, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 45, Autosomal Recessive:

6 (show all 41)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NT5C2 NM_012229.4(NT5C2):c.1225del (p.Ser409fs) Deletion Pathogenic 100905 rs886037656 GRCh37: 10:104850740-104850740
GRCh38: 10:103090983-103090983
2 NT5C2 NM_012229.4(NT5C2):c.989-1G>T SNV Pathogenic 100906 rs886037657 GRCh37: 10:104853067-104853067
GRCh38: 10:103093310-103093310
3 NT5C2 NM_001351176.1(NT5C2):c.-129A>T SNV Pathogenic 100907 rs587777174 GRCh37: 10:104861028-104861028
GRCh38: 10:103101271-103101271
4 NT5C2 NM_012229.4(NT5C2):c.175+1G>A SNV Pathogenic 100908 rs886037658 GRCh37: 10:104899162-104899162
GRCh38: 10:103139405-103139405
5 NT5C2 NM_012229.4(NT5C2):c.771+573_814-298del Deletion Pathogenic 375572 GRCh37: 10:104854510-104856475
GRCh38: 10:103094753-103096718
6 NT5C2 NM_001351176.1(NT5C2):c.-266_-265AC[2] Microsatellite Pathogenic 541762 rs763305896 GRCh37: 10:104865539-104865540
GRCh38: 10:103105782-103105783
7 NT5C2 NM_001351169.2(NT5C2):c.1371T>A (p.Tyr457Ter) SNV Pathogenic 952332 GRCh37: 10:104850446-104850446
GRCh38: 10:103090689-103090689
8 NT5C2 NM_001351175.1(NT5C2):c.-133C>T SNV Pathogenic 100904 rs587777173 GRCh37: 10:104934631-104934631
GRCh38: 10:103174874-103174874
9 NT5C2 and overlap with 1 gene(s) NC_000010.11:g.(?_103089662)_(103174968_?)del Deletion Pathogenic 642627 GRCh37: 10:104849419-104934725
GRCh38: 10:103089662-103174968
10 NT5C2 , CNNM2 NM_001351169.2(NT5C2):c.1665GGA[6] (p.Glu561dup) Microsatellite Pathogenic 1032555 GRCh37: 10:104849435-104849436
GRCh38: 10:103089678-103089679
11 NT5C2 NM_001351169.2(NT5C2):c.1099C>T (p.Arg367Ter) SNV Pathogenic/Likely pathogenic 834345 GRCh37: 10:104852956-104852956
GRCh38: 10:103093199-103093199
12 NT5C2 NM_001351169.2(NT5C2):c.539+1G>T SNV Likely pathogenic 1029182 GRCh37: 10:104860801-104860801
GRCh38: 10:103101044-103101044
13 NT5C2 NM_001351169.2(NT5C2):c.1449+2T>C SNV Likely pathogenic 1048080 rs753295868 GRCh37: 10:104850366-104850366
GRCh38: 10:103090609-103090609
14 NT5C2 NM_001351169.2(NT5C2):c.430C>T (p.Arg144Ter) SNV Likely pathogenic 810633 GRCh37: 10:104861043-104861043
GRCh38: 10:103101286-103101286
15 NT5C2 NM_012229.4(NT5C2):c.1272+1G>C SNV Likely pathogenic 579655 rs1430860231 GRCh37: 10:104850692-104850692
GRCh38: 10:103090935-103090935
16 NT5C2 , CNNM2 NM_017649.5(CNNM2):c.*12501_*12503CTC[3] Microsatellite Conflicting interpretations of pathogenicity 474945 rs537259520 GRCh37: 10:104849436-104849441
GRCh38: 10:103089679-103089684
17 NT5C2 NM_001351169.2(NT5C2):c.141G>C (p.Lys47Asn) SNV Uncertain significance 943906 GRCh37: 10:104899197-104899197
GRCh38: 10:103139440-103139440
18 NT5C2 NM_001351169.2(NT5C2):c.232G>A (p.Val78Ile) SNV Uncertain significance 1010868 GRCh37: 10:104866407-104866407
GRCh38: 10:103106650-103106650
19 NT5C2 NM_001351169.2(NT5C2):c.176-7T>G SNV Uncertain significance 1012102 GRCh37: 10:104866470-104866470
GRCh38: 10:103106713-103106713
20 NT5C2 NM_001351169.2(NT5C2):c.1289T>C (p.Met430Thr) SNV Uncertain significance 845619 GRCh37: 10:104850528-104850528
GRCh38: 10:103090771-103090771
21 NT5C2 , CNNM2 NM_001351169.2(NT5C2):c.1528A>C (p.Thr510Pro) SNV Uncertain significance 864795 GRCh37: 10:104849587-104849587
GRCh38: 10:103089830-103089830
22 NT5C2 NM_001351169.2(NT5C2):c.445A>G (p.Arg149Gly) SNV Uncertain significance 951474 GRCh37: 10:104861028-104861028
GRCh38: 10:103101271-103101271
23 NT5C2 , CNNM2 NM_001351169.2(NT5C2):c.1665GGA[4] (p.Glu561del) Microsatellite Uncertain significance 1025816 GRCh37: 10:104849436-104849438
GRCh38: 10:103089679-103089681
24 NT5C2 NM_001351175.1(NT5C2):c.-161G>C SNV Uncertain significance 541767 rs762854961 GRCh37: 10:104934659-104934659
GRCh38: 10:103174902-103174902
25 NT5C2 NM_001351169.2(NT5C2):c.1259A>G (p.Gln420Arg) SNV Uncertain significance 856351 GRCh37: 10:104850706-104850706
GRCh38: 10:103090949-103090949
26 NT5C2 NM_012229.4(NT5C2):c.1139A>G (p.His380Arg) SNV Uncertain significance 643613 rs138513368 GRCh37: 10:104852916-104852916
GRCh38: 10:103093159-103093159
27 NT5C2 NM_012229.4(NT5C2):c.44T>C (p.Met15Thr) SNV Uncertain significance 647147 rs751896016 GRCh37: 10:104934672-104934672
GRCh38: 10:103174915-103174915
28 NT5C2 NM_012229.4(NT5C2):c.1090C>G (p.Gln364Glu) SNV Uncertain significance 657035 rs1590658486 GRCh37: 10:104852965-104852965
GRCh38: 10:103093208-103093208
29 NT5C2 , CNNM2 NM_017649.5(CNNM2):c.*12711C>T SNV Uncertain significance 658793 rs368637290 GRCh37: 10:104849648-104849648
GRCh38: 10:103089891-103089891
30 NT5C2 , CNNM2 NM_001351169.2(NT5C2):c.1662_1664del (p.Glu561del) Deletion Uncertain significance 959340 GRCh37: 10:104849451-104849453
GRCh38: 10:103089694-103089696
31 NT5C2 , CNNM2 NM_017649.5(CNNM2):c.*12513C>A SNV Uncertain significance 541766 rs141031435 GRCh37: 10:104849450-104849450
GRCh38: 10:103089693-103089693
32 NT5C2 , CNNM2 NM_017649.5(CNNM2):c.*12513_*12518del Deletion Uncertain significance 541768 rs1338040632 GRCh37: 10:104849448-104849453
GRCh38: 10:103089691-103089696
33 NT5C2 NM_012229.4(NT5C2):c.390-3C>T SNV Uncertain significance 567683 rs754629068 GRCh37: 10:104861086-104861086
GRCh38: 10:103101329-103101329
34 NT5C2 NM_012229.4(NT5C2):c.1273-7_1273-4del Deletion Uncertain significance 568880 rs747195167 GRCh37: 10:104850548-104850551
GRCh38: 10:103090791-103090794
35 NT5C2 NM_012229.4(NT5C2):c.139A>G (p.Lys47Glu) SNV Uncertain significance 569317 rs1565150442 GRCh37: 10:104899199-104899199
GRCh38: 10:103139442-103139442
36 NT5C2 NM_012229.4(NT5C2):c.982T>C (p.Ser328Pro) SNV Uncertain significance 576834 rs1564921342 GRCh37: 10:104853735-104853735
GRCh38: 10:103093978-103093978
37 NT5C2 NM_012229.4(NT5C2):c.1172A>G (p.Glu391Gly) SNV Uncertain significance 474941 rs775006132 GRCh37: 10:104851360-104851360
GRCh38: 10:103091603-103091603
38 NT5C2 NM_012229.4(NT5C2):c.1413C>T (p.Tyr471=) SNV Likely benign 474942 rs138710030 GRCh37: 10:104850404-104850404
GRCh38: 10:103090647-103090647
39 NT5C2 , CNNM2 NM_001351169.2(NT5C2):c.1644T>C (p.His548=) SNV Likely benign 724043 rs1158434429 GRCh37: 10:104849471-104849471
GRCh38: 10:103089714-103089714
40 NT5C2 NM_001351169.2(NT5C2):c.656T>C (p.Val219Ala) SNV Likely benign 790415 rs116066839 GRCh37: 10:104858719-104858719
GRCh38: 10:103098962-103098962
41 NT5C2 NM_001351169.2(NT5C2):c.942T>C (p.Ile314=) SNV Likely benign 703914 rs144333777 GRCh37: 10:104853775-104853775
GRCh38: 10:103094018-103094018

Expression for Spastic Paraplegia 45, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 45, Autosomal Recessive.

Pathways for Spastic Paraplegia 45, Autosomal Recessive

GO Terms for Spastic Paraplegia 45, Autosomal Recessive

Biological processes related to Spastic Paraplegia 45, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid droplet organization GO:0034389 8.62 SPART DDHD2

Sources for Spastic Paraplegia 45, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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