SPG45
MCID: SPS114
MIFTS: 33

Spastic Paraplegia 45, Autosomal Recessive (SPG45)

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 45, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 45, Autosomal Recessive:

Name: Spastic Paraplegia 45, Autosomal Recessive 57 75 29 13 6 73
Spg45 57 12 59 75
Autosomal Recessive Spastic Paraplegia Type 45 12 59
Autosomal Recessive Spastic Paraplegia Type 65 12 59
Hereditary Spastic Paraplegia 45 12 15
Spg65 12 59
Paraplegia, Spastic, Type 45, Autosomal Recessive 40
Autosomal Recessive Spastic Paraplegia 45 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic paraplegia type 45
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in the first 2 years of life


HPO:

32
spastic paraplegia 45, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spastic Paraplegia 45, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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 perrault syndrome 1 and paraplegia. An important gene associated with Spastic Paraplegia 45, Autosomal Recessive is NT5C2 (5'-Nucleotidase, Cytosolic II). Affiliated tissues include skin, bone and eye, and related phenotypes are intellectual disability and hyperreflexia

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

Description from OMIM: 613162

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

# Related Disease Score Top Affiliating Genes
1 perrault syndrome 1 11.1
2 paraplegia 10.3
3 hereditary spastic paraplegia 10.1

Symptoms & Phenotypes for Spastic Paraplegia 45, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spastic Paraplegia 45, Autosomal Recessive:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
3 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
4 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
5 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
6 babinski sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003487
7 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
8 spastic paraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001258
9 flexion contracture of toe 59 32 hallmark (90%) Very frequent (99-80%) HP:0005830
10 spastic gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0002064
11 ankle contracture 59 32 hallmark (90%) Very frequent (99-80%) HP:0006466
12 knee flexion contracture 59 32 hallmark (90%) Very frequent (99-80%) HP:0006380
13 pendular nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0012043
14 nystagmus 32 HP:0000639
15 flexion contracture 32 HP:0001371
16 talipes equinovarus 32 occasional (7.5%) HP:0001762
17 lower limb spasticity 59 Very frequent (99-80%)
18 hypoplasia of the corpus callosum 32 HP:0002079
19 dysplastic corpus callosum 32 HP:0006989

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

MalaCards organs/tissues related to Spastic Paraplegia 45, Autosomal Recessive:

41
Skin, Bone, Eye

Publications for Spastic Paraplegia 45, Autosomal Recessive

Variations for Spastic Paraplegia 45, Autosomal Recessive

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

6 (show all 42)
# Gene Variation Type Significance SNP ID Assembly Location
1 NT5C2 NM_012229.4(NT5C2): c.85C> T (p.Arg29Ter) single nucleotide variant Pathogenic rs587777173 GRCh37 Chromosome 10, 104934631: 104934631
2 NT5C2 NM_012229.4(NT5C2): c.85C> T (p.Arg29Ter) single nucleotide variant Pathogenic rs587777173 GRCh38 Chromosome 10, 103174874: 103174874
3 NT5C2 NM_012229.4(NT5C2): c.1225delA (p.Ser409Valfs) deletion Pathogenic rs886037656 GRCh37 Chromosome 10, 104850740: 104850740
4 NT5C2 NM_012229.4(NT5C2): c.1225delA (p.Ser409Valfs) deletion Pathogenic rs886037656 GRCh38 Chromosome 10, 103090983: 103090983
5 NT5C2 NM_012229.4(NT5C2): c.989-1G> T single nucleotide variant Pathogenic rs886037657 GRCh38 Chromosome 10, 103093310: 103093310
6 NT5C2 NM_012229.4(NT5C2): c.989-1G> T single nucleotide variant Pathogenic rs886037657 GRCh37 Chromosome 10, 104853067: 104853067
7 NT5C2 NM_012229.4(NT5C2): c.445A> T (p.Arg149Ter) single nucleotide variant Pathogenic rs587777174 GRCh37 Chromosome 10, 104861028: 104861028
8 NT5C2 NM_012229.4(NT5C2): c.445A> T (p.Arg149Ter) single nucleotide variant Pathogenic rs587777174 GRCh38 Chromosome 10, 103101271: 103101271
9 NT5C2 NM_012229.4(NT5C2): c.175+1G> A single nucleotide variant Pathogenic rs886037658 GRCh37 Chromosome 10, 104899162: 104899162
10 NT5C2 NM_012229.4(NT5C2): c.175+1G> A single nucleotide variant Pathogenic rs886037658 GRCh38 Chromosome 10, 103139405: 103139405
11 NT5C2 NG_042272.1: g.101589_103554del1966 deletion Pathogenic GRCh37 Chromosome 10, 104854510: 104856475
12 NT5C2 NG_042272.1: g.101589_103554del1966 deletion Pathogenic GRCh38 Chromosome 10, 103094753: 103096718
13 NT5C2 NM_012229.4(NT5C2): c.1662A> G (p.Glu554=) single nucleotide variant Likely benign rs116702241 GRCh37 Chromosome 10, 104849453: 104849453
14 NT5C2 NM_012229.4(NT5C2): c.1662A> G (p.Glu554=) single nucleotide variant Likely benign rs116702241 GRCh38 Chromosome 10, 103089696: 103089696
15 NT5C2 NM_012229.4(NT5C2): c.1671G> A (p.Glu557=) single nucleotide variant Likely benign rs553419003 GRCh37 Chromosome 10, 104849444: 104849444
16 NT5C2 NM_012229.4(NT5C2): c.1671G> A (p.Glu557=) single nucleotide variant Likely benign rs553419003 GRCh38 Chromosome 10, 103089687: 103089687
17 NT5C2 NM_012229.4(NT5C2): c.1674_1679delGGAGGA (p.Glu560_Glu561del) deletion Uncertain significance rs763843500 GRCh37 Chromosome 10, 104849436: 104849441
18 NT5C2 NM_012229.4(NT5C2): c.1674_1679delGGAGGA (p.Glu560_Glu561del) deletion Uncertain significance rs763843500 GRCh38 Chromosome 10, 103089679: 103089684
19 NT5C2 NM_012229.4(NT5C2): c.1413C> T (p.Tyr471=) single nucleotide variant Likely benign rs138710030 GRCh37 Chromosome 10, 104850404: 104850404
20 NT5C2 NM_012229.4(NT5C2): c.1413C> T (p.Tyr471=) single nucleotide variant Likely benign rs138710030 GRCh38 Chromosome 10, 103090647: 103090647
21 NT5C2 NM_012229.4(NT5C2): c.1172A> G (p.Glu391Gly) single nucleotide variant Uncertain significance rs775006132 GRCh37 Chromosome 10, 104851360: 104851360
22 NT5C2 NM_012229.4(NT5C2): c.1172A> G (p.Glu391Gly) single nucleotide variant Uncertain significance rs775006132 GRCh38 Chromosome 10, 103091603: 103091603
23 NT5C2 NM_012229.4(NT5C2): c.407A> G (p.Gln136Arg) single nucleotide variant Likely benign rs12262171 GRCh37 Chromosome 10, 104861066: 104861066
24 NT5C2 NM_012229.4(NT5C2): c.407A> G (p.Gln136Arg) single nucleotide variant Likely benign rs12262171 GRCh38 Chromosome 10, 103101309: 103101309
25 NT5C2 NM_012229.4(NT5C2): c.1662_1667delAGAGGA (p.Glu560_Glu561del) deletion Uncertain significance GRCh37 Chromosome 10, 104849448: 104849453
26 NT5C2 NM_012229.4(NT5C2): c.1662_1667delAGAGGA (p.Glu560_Glu561del) deletion Uncertain significance GRCh38 Chromosome 10, 103089691: 103089696
27 NT5C2 NM_012229.4(NT5C2): c.1665G> T (p.Glu555Asp) single nucleotide variant Uncertain significance rs141031435 GRCh37 Chromosome 10, 104849450: 104849450
28 NT5C2 NM_012229.4(NT5C2): c.1665G> T (p.Glu555Asp) single nucleotide variant Uncertain significance rs141031435 GRCh38 Chromosome 10, 103089693: 103089693
29 NT5C2 NM_012229.4(NT5C2): c.312_313delAC (p.Leu105Valfs) deletion Pathogenic GRCh37 Chromosome 10, 104865539: 104865540
30 NT5C2 NM_012229.4(NT5C2): c.312_313delAC (p.Leu105Valfs) deletion Pathogenic GRCh38 Chromosome 10, 103105782: 103105783
31 NT5C2 NM_012229.4(NT5C2): c.57G> C (p.Met19Ile) single nucleotide variant Uncertain significance rs762854961 GRCh38 Chromosome 10, 103174902: 103174902
32 NT5C2 NM_012229.4(NT5C2): c.57G> C (p.Met19Ile) single nucleotide variant Uncertain significance rs762854961 GRCh37 Chromosome 10, 104934659: 104934659
33 NT5C2 NM_012229.4(NT5C2): c.139A> G (p.Lys47Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 104899199: 104899199
34 NT5C2 NM_012229.4(NT5C2): c.139A> G (p.Lys47Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 103139442: 103139442
35 NT5C2 NM_012229.4(NT5C2): c.1273-7_1273-4delGTTT deletion Uncertain significance GRCh37 Chromosome 10, 104850548: 104850551
36 NT5C2 NM_012229.4(NT5C2): c.1273-7_1273-4delGTTT deletion Uncertain significance GRCh38 Chromosome 10, 103090791: 103090794
37 NT5C2 NM_012229.4(NT5C2): c.1272+1G> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 10, 104850692: 104850692
38 NT5C2 NM_012229.4(NT5C2): c.1272+1G> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 10, 103090935: 103090935
39 NT5C2 NM_012229.4(NT5C2): c.390-3C> T single nucleotide variant Uncertain significance rs754629068 GRCh37 Chromosome 10, 104861086: 104861086
40 NT5C2 NM_012229.4(NT5C2): c.390-3C> T single nucleotide variant Uncertain significance rs754629068 GRCh38 Chromosome 10, 103101329: 103101329
41 NT5C2 NM_012229.4(NT5C2): c.982T> C (p.Ser328Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 104853735: 104853735
42 NT5C2 NM_012229.4(NT5C2): c.982T> C (p.Ser328Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 103093978: 103093978

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

Cellular components related to Spastic Paraplegia 45, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 8.96 MRPL43 SNCA
2 ribosome GO:0005840 8.62 MRPL43 SNCA

Sources for Spastic Paraplegia 45, Autosomal Recessive

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10 dbSNP
11 DGIdb
17 ExPASy
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28 GO
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31 HMDB
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34 ICD10 via Orphanet
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44 MeSH
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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