SPG9
MCID: ATS155
MIFTS: 27

Autosomal Dominant Spastic Paraplegia Type 9 (SPG9)

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 Autosomal Dominant Spastic Paraplegia Type 9

MalaCards integrated aliases for Autosomal Dominant Spastic Paraplegia Type 9:

Name: Autosomal Dominant Spastic Paraplegia Type 9 59
Spastic Paraparesis-Amyopathy-Cataracts-Gastroesophageal Reflux Syndrome 59
Cataracts-Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome 59
Spastic Paraplegia 9, Autosomal Dominant 13
Spg9 59

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant spastic paraplegia type 9
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Infancy;

Classifications:



Summaries for Autosomal Dominant Spastic Paraplegia Type 9

MalaCards based summary : Autosomal Dominant Spastic Paraplegia Type 9, also known as spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome, is related to spastic paraplegia 9a, autosomal dominant and spastic paraplegia 9. An important gene associated with Autosomal Dominant Spastic Paraplegia Type 9 is ALDH18A1 (Aldehyde Dehydrogenase 18 Family Member A1). Affiliated tissues include skin, bone and eye, and related phenotypes are seizures and muscle weakness

Related Diseases for Autosomal Dominant Spastic Paraplegia Type 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 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 Autosomal Dominant Spastic Paraplegia Type 9 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 9a, autosomal dominant 12.0
2 spastic paraplegia 9 11.1
3 paraplegia 10.3

Symptoms & Phenotypes for Autosomal Dominant Spastic Paraplegia Type 9

Human phenotypes related to Autosomal Dominant Spastic Paraplegia Type 9:

32 (show all 32)
# Description HPO Frequency HPO Source Accession
1 seizures 32 occasional (7.5%) HP:0001250
2 muscle weakness 32 occasional (7.5%) HP:0001324
3 tremor 32 occasional (7.5%) HP:0001337
4 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
5 babinski sign 32 frequent (33%) HP:0003487
6 pes cavus 32 frequent (33%) HP:0001761
7 falls 32 occasional (7.5%) HP:0002527
8 memory impairment 32 occasional (7.5%) HP:0002354
9 psychosis 32 occasional (7.5%) HP:0000709
10 mitral regurgitation 32 occasional (7.5%) HP:0001653
11 muscle cramps 32 occasional (7.5%) HP:0003394
12 dementia 32 occasional (7.5%) HP:0000726
13 horizontal nystagmus 32 occasional (7.5%) HP:0000666
14 impaired vibration sensation in the lower limbs 32 occasional (7.5%) HP:0002166
15 lower limb pain 32 occasional (7.5%) HP:0012514
16 urinary urgency 32 occasional (7.5%) HP:0000012
17 spastic gait 32 hallmark (90%) HP:0002064
18 hyperreflexia in upper limbs 32 hallmark (90%) HP:0007350
19 urinary incontinence 32 occasional (7.5%) HP:0000020
20 lower limb hypertonia 32 frequent (33%) HP:0006895
21 corpus callosum atrophy 32 occasional (7.5%) HP:0007371
22 pollakisuria 32 occasional (7.5%) HP:0100515
23 anarthria 32 occasional (7.5%) HP:0002425
24 postural instability 32 occasional (7.5%) HP:0002172
25 spastic dysarthria 32 occasional (7.5%) HP:0002464
26 lower limb hyperreflexia 32 hallmark (90%) HP:0002395
27 congenital cataract 32 occasional (7.5%) HP:0000519
28 enlarged cisterna magna 32 occasional (7.5%) HP:0002280
29 abnormality of pain sensation 32 frequent (33%) HP:0010832
30 low back pain 32 occasional (7.5%) HP:0003419
31 abnormality of the dorsal column of the spinal cord 32 occasional (7.5%) HP:0011397
32 abnormal cerebellum morphology 32 occasional (7.5%) HP:0001317

Drugs & Therapeutics for Autosomal Dominant Spastic Paraplegia Type 9

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Spastic Paraplegia Type 9

Genetic Tests for Autosomal Dominant Spastic Paraplegia Type 9

Anatomical Context for Autosomal Dominant Spastic Paraplegia Type 9

MalaCards organs/tissues related to Autosomal Dominant Spastic Paraplegia Type 9:

41
Skin, Bone, Eye, Spinal Cord, Cerebellum

Publications for Autosomal Dominant Spastic Paraplegia Type 9

Variations for Autosomal Dominant Spastic Paraplegia Type 9

ClinVar genetic disease variations for Autosomal Dominant Spastic Paraplegia Type 9:

6 (show top 50) (show all 66)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALDH18A1 NM_002860.3(ALDH18A1): c.727G> C (p.Val243Leu) single nucleotide variant Pathogenic rs864321669 GRCh38 Chromosome 10, 95633040: 95633040
2 ALDH18A1 NM_002860.3(ALDH18A1): c.727G> C (p.Val243Leu) single nucleotide variant Pathogenic rs864321669 GRCh37 Chromosome 10, 97392797: 97392797
3 ALDH18A1 NM_002860.3(ALDH18A1): c.755G> A (p.Arg252Gln) single nucleotide variant Pathogenic rs864321670 GRCh38 Chromosome 10, 95633012: 95633012
4 ALDH18A1 NM_002860.3(ALDH18A1): c.755G> A (p.Arg252Gln) single nucleotide variant Pathogenic rs864321670 GRCh37 Chromosome 10, 97392769: 97392769
5 ALDH18A1 NM_002860.3(ALDH18A1): c.359T> C (p.Val120Ala) single nucleotide variant Pathogenic rs863224945 GRCh38 Chromosome 10, 95637381: 95637381
6 ALDH18A1 NM_002860.3(ALDH18A1): c.359T> C (p.Val120Ala) single nucleotide variant Pathogenic rs863224945 GRCh37 Chromosome 10, 97397138: 97397138
7 ALDH18A1 NM_002860.3(ALDH18A1): c.1994G> T (p.Arg665Leu) single nucleotide variant Pathogenic rs766264810 GRCh37 Chromosome 10, 97371129: 97371129
8 ALDH18A1 NM_002860.3(ALDH18A1): c.1994G> T (p.Arg665Leu) single nucleotide variant Pathogenic rs766264810 GRCh38 Chromosome 10, 95611372: 95611372
9 ALDH18A1 NM_002860.3(ALDH18A1): c.1029T> C (p.Ile343=) single nucleotide variant Benign/Likely benign rs41291566 GRCh38 Chromosome 10, 95627491: 95627491
10 ALDH18A1 NM_002860.3(ALDH18A1): c.1029T> C (p.Ile343=) single nucleotide variant Benign/Likely benign rs41291566 GRCh37 Chromosome 10, 97387248: 97387248
11 ALDH18A1 NM_002860.3(ALDH18A1): c.1308G> A (p.Leu436=) single nucleotide variant Conflicting interpretations of pathogenicity rs144816455 GRCh38 Chromosome 10, 95621190: 95621190
12 ALDH18A1 NM_002860.3(ALDH18A1): c.1308G> A (p.Leu436=) single nucleotide variant Conflicting interpretations of pathogenicity rs144816455 GRCh37 Chromosome 10, 97380947: 97380947
13 ALDH18A1 NM_002860.3(ALDH18A1): c.1329C> T (p.Ile443=) single nucleotide variant Benign/Likely benign rs117709404 GRCh38 Chromosome 10, 95621169: 95621169
14 ALDH18A1 NM_002860.3(ALDH18A1): c.1329C> T (p.Ile443=) single nucleotide variant Benign/Likely benign rs117709404 GRCh37 Chromosome 10, 97380926: 97380926
15 ALDH18A1 NM_002860.3(ALDH18A1): c.492C> T (p.Ala164=) single nucleotide variant Conflicting interpretations of pathogenicity rs150472102 GRCh38 Chromosome 10, 95637159: 95637159
16 ALDH18A1 NM_002860.3(ALDH18A1): c.492C> T (p.Ala164=) single nucleotide variant Conflicting interpretations of pathogenicity rs150472102 GRCh37 Chromosome 10, 97396916: 97396916
17 ALDH18A1 NM_002860.3(ALDH18A1): c.1770C> T (p.Ser590=) single nucleotide variant Benign/Likely benign rs11541780 GRCh37 Chromosome 10, 97373754: 97373754
18 ALDH18A1 NM_002860.3(ALDH18A1): c.1770C> T (p.Ser590=) single nucleotide variant Benign/Likely benign rs11541780 GRCh38 Chromosome 10, 95613997: 95613997
19 ALDH18A1 NM_002860.3(ALDH18A1): c.1115C> A (p.Ser372Tyr) single nucleotide variant Benign/Likely benign rs3765571 GRCh38 Chromosome 10, 95626740: 95626740
20 ALDH18A1 NM_002860.3(ALDH18A1): c.1115C> A (p.Ser372Tyr) single nucleotide variant Benign/Likely benign rs3765571 GRCh37 Chromosome 10, 97386497: 97386497
21 ALDH18A1 NM_002860.3(ALDH18A1): c.2207-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs149309642 GRCh37 Chromosome 10, 97366703: 97366703
22 ALDH18A1 NM_002860.3(ALDH18A1): c.2207-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs149309642 GRCh38 Chromosome 10, 95606946: 95606946
23 ALDH18A1 NM_002860.3(ALDH18A1): c.1977C> T (p.Ser659=) single nucleotide variant Benign/Likely benign rs1804934 GRCh37 Chromosome 10, 97371146: 97371146
24 ALDH18A1 NM_002860.3(ALDH18A1): c.1977C> T (p.Ser659=) single nucleotide variant Benign/Likely benign rs1804934 GRCh38 Chromosome 10, 95611389: 95611389
25 ALDH18A1 NM_002860.3(ALDH18A1): c.2232G> A (p.Ser744=) single nucleotide variant Likely benign rs148601288 GRCh37 Chromosome 10, 97366675: 97366675
26 ALDH18A1 NM_002860.3(ALDH18A1): c.2232G> A (p.Ser744=) single nucleotide variant Likely benign rs148601288 GRCh38 Chromosome 10, 95606918: 95606918
27 ALDH18A1 NM_002860.3(ALDH18A1): c.2160C> T (p.Phe720=) single nucleotide variant Likely benign rs374052426 GRCh37 Chromosome 10, 97370000: 97370000
28 ALDH18A1 NM_002860.3(ALDH18A1): c.2160C> T (p.Phe720=) single nucleotide variant Likely benign rs374052426 GRCh38 Chromosome 10, 95610243: 95610243
29 ALDH18A1 NM_002860.3(ALDH18A1): c.1942C> T (p.Pro648Ser) single nucleotide variant not provided rs768964431 GRCh37 Chromosome 10, 97371181: 97371181
30 ALDH18A1 NM_002860.3(ALDH18A1): c.1942C> T (p.Pro648Ser) single nucleotide variant not provided rs768964431 GRCh38 Chromosome 10, 95611424: 95611424
31 ALDH18A1 NM_002860.3(ALDH18A1): c.1568C> T (p.Ala523Val) single nucleotide variant Uncertain significance rs529294368 GRCh37 Chromosome 10, 97376271: 97376271
32 ALDH18A1 NM_002860.3(ALDH18A1): c.1568C> T (p.Ala523Val) single nucleotide variant Uncertain significance rs529294368 GRCh38 Chromosome 10, 95616514: 95616514
33 ALDH18A1 NM_002860.3(ALDH18A1): c.551C> T (p.Ala184Val) single nucleotide variant Uncertain significance rs201428777 GRCh37 Chromosome 10, 97396857: 97396857
34 ALDH18A1 NM_002860.3(ALDH18A1): c.551C> T (p.Ala184Val) single nucleotide variant Uncertain significance rs201428777 GRCh38 Chromosome 10, 95637100: 95637100
35 ALDH18A1 NM_002860.3(ALDH18A1): c.1777A> G (p.Ser593Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 97373747: 97373747
36 ALDH18A1 NM_002860.3(ALDH18A1): c.1777A> G (p.Ser593Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 95613990: 95613990
37 ALDH18A1 NM_002860.3(ALDH18A1): c.868G> A (p.Gly290Arg) single nucleotide variant Uncertain significance rs368147360 GRCh37 Chromosome 10, 97388190: 97388190
38 ALDH18A1 NM_002860.3(ALDH18A1): c.868G> A (p.Gly290Arg) single nucleotide variant Uncertain significance rs368147360 GRCh38 Chromosome 10, 95628433: 95628433
39 ALDH18A1 NM_002860.3(ALDH18A1): c.1264C> G (p.Leu422Val) single nucleotide variant Uncertain significance rs142712849 GRCh38 Chromosome 10, 95621234: 95621234
40 ALDH18A1 NM_002860.3(ALDH18A1): c.1264C> G (p.Leu422Val) single nucleotide variant Uncertain significance rs142712849 GRCh37 Chromosome 10, 97380991: 97380991
41 ALDH18A1 NM_002860.3(ALDH18A1): c.1015G> A (p.Val339Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 97387262: 97387262
42 ALDH18A1 NM_002860.3(ALDH18A1): c.1015G> A (p.Val339Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 95627505: 95627505
43 ALDH18A1 NM_002860.3(ALDH18A1): c.678C> T (p.Val226=) single nucleotide variant Likely benign rs772829720 GRCh37 Chromosome 10, 97393287: 97393287
44 ALDH18A1 NM_002860.3(ALDH18A1): c.678C> T (p.Val226=) single nucleotide variant Likely benign rs772829720 GRCh38 Chromosome 10, 95633530: 95633530
45 ALDH18A1 NM_002860.3(ALDH18A1): c.1201G> A (p.Asp401Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 97385164: 97385164
46 ALDH18A1 NM_002860.3(ALDH18A1): c.1201G> A (p.Asp401Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 95625407: 95625407
47 ALDH18A1 NM_002860.3(ALDH18A1): c.1604T> A (p.Leu535Gln) single nucleotide variant Uncertain significance rs200452017 GRCh37 Chromosome 10, 97376235: 97376235
48 ALDH18A1 NM_002860.3(ALDH18A1): c.1604T> A (p.Leu535Gln) single nucleotide variant Uncertain significance rs200452017 GRCh38 Chromosome 10, 95616478: 95616478
49 ALDH18A1 NM_002860.3(ALDH18A1): c.428C> T (p.Ser143Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 97397069: 97397069
50 ALDH18A1 NM_002860.3(ALDH18A1): c.428C> T (p.Ser143Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 95637312: 95637312

Expression for Autosomal Dominant Spastic Paraplegia Type 9

Search GEO for disease gene expression data for Autosomal Dominant Spastic Paraplegia Type 9.

Pathways for Autosomal Dominant Spastic Paraplegia Type 9

GO Terms for Autosomal Dominant Spastic Paraplegia Type 9

Sources for Autosomal Dominant Spastic Paraplegia Type 9

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10 dbSNP
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44 MeSH
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69 SNOMED-CT via HPO
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