SPG9
MCID: SPS042
MIFTS: 22

Spastic Paraplegia 9 (SPG9)

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 9

MalaCards integrated aliases for Spastic Paraplegia 9:

Name: Spastic Paraplegia 9 20 6
Bilateral Cataracts, Gastroesophageal Reflux, and Spastic Paraparesis with Amyotrophy 20
Cataracts, Motor Neuronopathy, Short Stature and Skeletal Abnormalities 20
Spastic Paraplegia 9, Autosomal Dominant 70
Autosomal Dominant Spastic Paraparesis 20
Spg9 20

Classifications:



External Ids:

UMLS 70 C1832669

Summaries for Spastic Paraplegia 9

MalaCards based summary : Spastic Paraplegia 9, also known as bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy, is related to spastic paraplegia 9a, autosomal dominant and gastroesophageal reflux, and has symptoms including upper motor neuron signs An important gene associated with Spastic Paraplegia 9 is ALDH18A1 (Aldehyde Dehydrogenase 18 Family Member A1). Affiliated tissues include eye.

Related Diseases for Spastic Paraplegia 9

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 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 9a, autosomal dominant 11.2
2 gastroesophageal reflux 10.5
3 cataract 10.5
4 spastic paraparesis 10.5
5 paraplegia 10.3
6 spastic paraplegia 9b, autosomal recessive 10.0
7 hereditary spastic paraplegia 10.0
8 spasticity 10.0
9 cutis laxa, autosomal dominant 1 9.9
10 cutis laxa, autosomal recessive, type iiia 9.9
11 spastic paraplegia 7, autosomal recessive 9.9
12 spastic paraplegia 27, autosomal recessive 9.9
13 spastic paraplegia 33, autosomal dominant 9.9
14 cutis laxa, autosomal dominant 3 9.9
15 autosomal recessive disease 9.9
16 autosomal recessive cutis laxa type iii 9.9

Graphical network of the top 20 diseases related to Spastic Paraplegia 9:



Diseases related to Spastic Paraplegia 9

Symptoms & Phenotypes for Spastic Paraplegia 9

UMLS symptoms related to Spastic Paraplegia 9:


upper motor neuron signs

Drugs & Therapeutics for Spastic Paraplegia 9

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 9

Genetic Tests for Spastic Paraplegia 9

Anatomical Context for Spastic Paraplegia 9

MalaCards organs/tissues related to Spastic Paraplegia 9:

40
Eye

Publications for Spastic Paraplegia 9

Articles related to Spastic Paraplegia 9:

(show all 16)
# Title Authors PMID Year
1
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. 61 6
26297558 2016
2
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 6
26026163 2015
3
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. 6
24913064 2014
4
Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy. 6
9973297 1999
5
Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome? 6
8779323 1996
6
Δ1 -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder. 61
32017139 2020
7
Autosomal dominant SPG9: intrafamilial variability and onset during pregnancy. 61
32221810 2020
8
P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9. 61
31402623 2019
9
Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment. 61
29915212 2018
10
Novel Type of Complicated Autosomal Dominant Hereditary Spastic Paraplegia Associated with Congenital Distal Arthrogryposis Type I. 61
30029526 2018
11
Reply: ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. 61
26297557 2016
12
Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes. 61
18394049 2008
13
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. 61
18364116 2008
14
A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1. 61
15455396 2004
15
Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy. 61
12567407 2003
16
A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2. 61
11039578 2000

Variations for Spastic Paraplegia 9

ClinVar genetic disease variations for Spastic Paraplegia 9:

6 (show top 50) (show all 85)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALDH18A1 NM_002860.4(ALDH18A1):c.1994G>T (p.Arg665Leu) SNV Pathogenic 217119 rs766264810 GRCh37: 10:97371129-97371129
GRCh38: 10:95611372-95611372
2 ALDH18A1 NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln) SNV Pathogenic 217117 rs864321670 GRCh37: 10:97392769-97392769
GRCh38: 10:95633012-95633012
3 ALDH18A1 NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln) SNV Pathogenic 217117 rs864321670 GRCh37: 10:97392769-97392769
GRCh38: 10:95633012-95633012
4 ALDH18A1 NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala) SNV Pathogenic 217118 rs863224945 GRCh37: 10:97397138-97397138
GRCh38: 10:95637381-95637381
5 ALDH18A1 NM_002860.4(ALDH18A1):c.727G>C (p.Val243Leu) SNV Pathogenic 217116 rs864321669 GRCh37: 10:97392797-97392797
GRCh38: 10:95633040-95633040
6 ALDH18A1 NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala) SNV Pathogenic 217118 rs863224945 GRCh37: 10:97397138-97397138
GRCh38: 10:95637381-95637381
7 ALDH18A1 NM_002860.4(ALDH18A1):c.88+1G>A SNV Likely pathogenic 659530 rs556267618 GRCh37: 10:97413046-97413046
GRCh38: 10:95653289-95653289
8 ALDH18A1 NM_002860.4(ALDH18A1):c.169C>A (p.His57Asn) SNV Uncertain significance 660899 rs200858692 GRCh37: 10:97402883-97402883
GRCh38: 10:95643126-95643126
9 ALDH18A1 NM_002860.4(ALDH18A1):c.2383A>G (p.Asn795Asp) SNV Uncertain significance 665168 rs747918055 GRCh37: 10:97366524-97366524
GRCh38: 10:95606767-95606767
10 ALDH18A1 NM_002860.4(ALDH18A1):c.1777A>G (p.Ser593Gly) SNV Uncertain significance 464040 rs1231068982 GRCh37: 10:97373747-97373747
GRCh38: 10:95613990-95613990
11 ALDH18A1 NM_002860.4(ALDH18A1):c.847C>T (p.Leu283Phe) SNV Uncertain significance 566189 rs747291828 GRCh37: 10:97388211-97388211
GRCh38: 10:95628454-95628454
12 ALDH18A1 NM_002860.4(ALDH18A1):c.598C>T (p.Arg200Cys) SNV Uncertain significance 570966 rs201801058 GRCh37: 10:97393367-97393367
GRCh38: 10:95633610-95633610
13 ALDH18A1 NM_002860.4(ALDH18A1):c.709G>C (p.Gly237Arg) SNV Uncertain significance 573157 rs201841420 GRCh37: 10:97393256-97393256
GRCh38: 10:95633499-95633499
14 ALDH18A1 NM_002860.4(ALDH18A1):c.1370G>A (p.Arg457His) SNV Uncertain significance 575749 rs570730665 GRCh37: 10:97380885-97380885
GRCh38: 10:95621128-95621128
15 ALDH18A1 NM_002860.4(ALDH18A1):c.1078+4A>G SNV Uncertain significance 578302 rs1566018543 GRCh37: 10:97387195-97387195
GRCh38: 10:95627438-95627438
16 ALDH18A1 NM_002860.4(ALDH18A1):c.1233G>T (p.Leu411Phe) SNV Uncertain significance 578899 rs758828421 GRCh37: 10:97385132-97385132
GRCh38: 10:95625375-95625375
17 ALDH18A1 NM_002860.4(ALDH18A1):c.1393G>C (p.Glu465Gln) SNV Uncertain significance 579657 rs757876226 GRCh37: 10:97380862-97380862
GRCh38: 10:95621105-95621105
18 ALDH18A1 NM_002860.4(ALDH18A1):c.428C>T (p.Ser143Leu) SNV Uncertain significance 581031 rs1302919102 GRCh37: 10:97397069-97397069
GRCh38: 10:95637312-95637312
19 ALDH18A1 NM_002860.4(ALDH18A1):c.2231C>T (p.Ser744Leu) SNV Uncertain significance 581547 rs762271422 GRCh37: 10:97366676-97366676
GRCh38: 10:95606919-95606919
20 ALDH18A1 NM_002860.4(ALDH18A1):c.1867G>A (p.Asp623Asn) SNV Uncertain significance 424961 rs770815414 GRCh37: 10:97373555-97373555
GRCh38: 10:95613798-95613798
21 ALDH18A1 NM_002860.4(ALDH18A1):c.709G>T (p.Gly237Trp) SNV Uncertain significance 638826 rs201841420 GRCh37: 10:97393256-97393256
GRCh38: 10:95633499-95633499
22 ALDH18A1 NM_002860.4(ALDH18A1):c.1237G>A (p.Glu413Lys) SNV Uncertain significance 647291 rs147348068 GRCh37: 10:97385128-97385128
GRCh38: 10:95625371-95625371
23 ALDH18A1 NM_002860.4(ALDH18A1):c.2077A>G (p.Ser693Gly) SNV Uncertain significance 658085 rs1363547996 GRCh37: 10:97371046-97371046
GRCh38: 10:95611289-95611289
24 ALDH18A1 NM_002860.4(ALDH18A1):c.1865G>A (p.Arg622Gln) SNV Uncertain significance 658959 rs774274057 GRCh37: 10:97373557-97373557
GRCh38: 10:95613800-95613800
25 ALDH18A1 NM_002860.4(ALDH18A1):c.1264C>G (p.Leu422Val) SNV Uncertain significance 464038 rs142712849 GRCh37: 10:97380991-97380991
GRCh38: 10:95621234-95621234
26 ALDH18A1 NM_002860.4(ALDH18A1):c.1015G>A (p.Val339Ile) SNV Uncertain significance 464037 rs1346763871 GRCh37: 10:97387262-97387262
GRCh38: 10:95627505-95627505
27 ALDH18A1 NM_002860.4(ALDH18A1):c.551C>T (p.Ala184Val) SNV Uncertain significance 464042 rs201428777 GRCh37: 10:97396857-97396857
GRCh38: 10:95637100-95637100
28 ALDH18A1 NM_002860.4(ALDH18A1):c.1201G>A (p.Asp401Asn) SNV Uncertain significance 517143 rs1242600175 GRCh37: 10:97385164-97385164
GRCh38: 10:95625407-95625407
29 ALDH18A1 NM_002860.4(ALDH18A1):c.1604T>A (p.Leu535Gln) SNV Uncertain significance 532701 rs200452017 GRCh37: 10:97376235-97376235
GRCh38: 10:95616478-95616478
30 ALDH18A1 NM_002860.4(ALDH18A1):c.786G>C (p.Leu262Phe) SNV Uncertain significance 936015 GRCh37: 10:97392738-97392738
GRCh38: 10:95632981-95632981
31 ALDH18A1 NM_002860.4(ALDH18A1):c.887C>A (p.Thr296Lys) SNV Uncertain significance 860228 GRCh37: 10:97388171-97388171
GRCh38: 10:95628414-95628414
32 ALDH18A1 NM_002860.4(ALDH18A1):c.1199G>A (p.Arg400His) SNV Uncertain significance 862839 GRCh37: 10:97385166-97385166
GRCh38: 10:95625409-95625409
33 ALDH18A1 NM_002860.4(ALDH18A1):c.1073C>T (p.Pro358Leu) SNV Uncertain significance 862860 GRCh37: 10:97387204-97387204
GRCh38: 10:95627447-95627447
34 ALDH18A1 NM_002860.4(ALDH18A1):c.164G>A (p.Arg55His) SNV Uncertain significance 863417 GRCh37: 10:97402888-97402888
GRCh38: 10:95643131-95643131
35 ALDH18A1 NM_002860.4(ALDH18A1):c.868G>A (p.Gly290Arg) SNV Uncertain significance 464043 rs368147360 GRCh37: 10:97388190-97388190
GRCh38: 10:95628433-95628433
36 ALDH18A1 NM_002860.4(ALDH18A1):c.87T>G (p.Ser29=) SNV Uncertain significance 834810 GRCh37: 10:97413048-97413048
GRCh38: 10:95653291-95653291
37 ALDH18A1 NM_002860.4(ALDH18A1):c.959A>G (p.Gln320Arg) SNV Uncertain significance 854542 GRCh37: 10:97387318-97387318
GRCh38: 10:95627561-95627561
38 ALDH18A1 NM_002860.4(ALDH18A1):c.589G>C (p.Glu197Gln) SNV Uncertain significance 453170 rs201691969 GRCh37: 10:97393376-97393376
GRCh38: 10:95633619-95633619
39 ALDH18A1 NM_002860.4(ALDH18A1):c.1376G>A (p.Arg459Gln) SNV Uncertain significance 952030 GRCh37: 10:97380879-97380879
GRCh38: 10:95621122-95621122
40 ALDH18A1 NM_002860.4(ALDH18A1):c.304-3C>T SNV Uncertain significance 681177 rs188362786 GRCh37: 10:97397196-97397196
GRCh38: 10:95637439-95637439
41 ALDH18A1 NM_002860.4(ALDH18A1):c.973G>T (p.Val325Phe) SNV Uncertain significance 956990 GRCh37: 10:97387304-97387304
GRCh38: 10:95627547-95627547
42 ALDH18A1 NM_002860.4(ALDH18A1):c.33G>C (p.Gln11His) SNV Uncertain significance 960965 GRCh37: 10:97413102-97413102
GRCh38: 10:95653345-95653345
43 ALDH18A1 NM_002860.4(ALDH18A1):c.1985A>G (p.Lys662Arg) SNV Uncertain significance 962471 GRCh37: 10:97371138-97371138
GRCh38: 10:95611381-95611381
44 ALDH18A1 NM_002860.4(ALDH18A1):c.572A>C (p.Asn191Thr) SNV Uncertain significance 963170 GRCh37: 10:97393393-97393393
GRCh38: 10:95633636-95633636
45 ALDH18A1 NM_002860.4(ALDH18A1):c.2231C>G (p.Ser744Trp) SNV Uncertain significance 522897 rs762271422 GRCh37: 10:97366676-97366676
GRCh38: 10:95606919-95606919
46 ALDH18A1 NM_002860.4(ALDH18A1):c.1732G>C (p.Gly578Arg) SNV Uncertain significance 426402 rs1085307606 GRCh37: 10:97373792-97373792
GRCh38: 10:95614035-95614035
47 ALDH18A1 NM_002860.4(ALDH18A1):c.1589A>C (p.Lys530Thr) SNV Uncertain significance 966241 GRCh37: 10:97376250-97376250
GRCh38: 10:95616493-95616493
48 ALDH18A1 NM_002860.4(ALDH18A1):c.1551C>A (p.His517Gln) SNV Uncertain significance 970639 GRCh37: 10:97376288-97376288
GRCh38: 10:95616531-95616531
49 ALDH18A1 NM_002860.4(ALDH18A1):c.1393G>A (p.Glu465Lys) SNV Uncertain significance 872769 GRCh37: 10:97380862-97380862
GRCh38: 10:95621105-95621105
50 ALDH18A1 NM_002860.4(ALDH18A1):c.558+6A>G SNV Uncertain significance 1019662 GRCh37: 10:97396844-97396844
GRCh38: 10:95637087-95637087

Expression for Spastic Paraplegia 9

Search GEO for disease gene expression data for Spastic Paraplegia 9.

Pathways for Spastic Paraplegia 9

GO Terms for Spastic Paraplegia 9

Sources for Spastic Paraplegia 9

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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