SPG9A
MCID: SPS158
MIFTS: 31

Spastic Paraplegia 9a, Autosomal Dominant (SPG9A)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Spastic Paraplegia 9a, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 9a, Autosomal Dominant:

Name: Spastic Paraplegia 9a, Autosomal Dominant 57 74
Spg9a 57 12 74
Cataracts with Motor Neuronopathy, Short Stature, and Skeletal Abnormalities 57 74
Spastic Paraparesis-Amyopathy-Cataracts-Gastroesophageal Reflux Syndrome 12 59
Hereditary Spastic Paraplegia 9a 12 15
Ad-Spg9a 12 59
Spastic Paraparesis with Amyotrophy, Cataracts, and Gastroesophageal Reflux 57
Cataracts with Motor Neuronopathy, Short Stature and Skeletal Abnormalities 12
Spastic Paraparesis with Amyopathy, Cataracts, and Gastroesophageal Reflux 74
Spastic Paraparesis with Amyopathy, Cataracts and Gastroesophageal Reflux 12
Cataracts Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome 12
Cataracts-Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome 59
Autosomal Dominant Complex Spastic Paraplegia Type 9a 12
Autosomal Dominant Spastic Paraplegia Type 9a 59
Autosomal Dominant Spastic Paraplegia 9a 12
Spastic Paraplegia 9, Autosomal Dominant 72

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
variable age of onset (first to third decades)
weakness during pregnancy in some affected females has been reported


HPO:

32
spastic paraplegia 9a, autosomal dominant:
Inheritance autosomal dominant inheritance genetic anticipation
Onset and clinical course slow progression


Classifications:



External Ids:

Disease Ontology 12 DOID:0110824
MeSH 44 D015419
ICD10 33 G11.4
ICD10 via Orphanet 34 G11.4
Orphanet 59 ORPHA447753
MedGen 42 C1832669
UMLS 72 C1832669

Summaries for Spastic Paraplegia 9a, Autosomal Dominant

UniProtKB/Swiss-Prot : 74 Spastic paraplegia 9A, 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. SPG9A patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency.

MalaCards based summary : Spastic Paraplegia 9a, Autosomal Dominant, also known as spg9a, is related to obsolete: autosomal dominant spastic paraplegia type 9, and has symptoms including upper motor neuron signs An important gene associated with Spastic Paraplegia 9a, Autosomal Dominant is ALDH18A1 (Aldehyde Dehydrogenase 18 Family Member A1). Affiliated tissues include bone, eye and spinal cord, and related phenotypes are spastic gait and hyperreflexia in upper limbs

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.

OMIM : 57 Autosomal dominant spastic paraplegia-9A is a neurologic disorder characterized by onset of slowly progressive spasticity mainly affecting the lower limbs. The age at onset usually ranges from adolescence to adulthood, and patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency (summary by Coutelier et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600). (601162)

Related Diseases for Spastic Paraplegia 9a, 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 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 Spastic Paraplegia 80, Autosomal Dominant
Hereditary Spastic Paraplegia 23 Hereditary Spastic Paraplegia 51
Hereditary Spastic Paraplegia 72 Hereditary Spastic Paraplegia
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 47
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 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 9a, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 obsolete: autosomal dominant spastic paraplegia type 9 11.8

Symptoms & Phenotypes for Spastic Paraplegia 9a, Autosomal Dominant

Human phenotypes related to Spastic Paraplegia 9a, Autosomal Dominant:

59 32 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spastic gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0002064
2 hyperreflexia in upper limbs 59 32 hallmark (90%) Very frequent (99-80%) HP:0007350
3 lower limb hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002395
4 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
5 pes cavus 59 32 frequent (33%) Frequent (79-30%) HP:0001761
6 lower limb hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0006895
7 abnormality of pain sensation 59 32 frequent (33%) Frequent (79-30%) HP:0010832
8 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
9 muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001324
10 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
11 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
12 memory impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002354
13 falls 59 32 occasional (7.5%) Occasional (29-5%) HP:0002527
14 psychosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000709
15 mitral regurgitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001653
16 dementia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000726
17 horizontal nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000666
18 abnormal cerebellum morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001317
19 impaired vibration sensation in the lower limbs 59 32 occasional (7.5%) Occasional (29-5%) HP:0002166
20 lower limb pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0012514
21 urinary urgency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000012
22 urinary incontinence 59 32 occasional (7.5%) Occasional (29-5%) HP:0000020
23 corpus callosum atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0007371
24 pollakisuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0100515
25 anarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0002425
26 postural instability 59 32 occasional (7.5%) Occasional (29-5%) HP:0002172
27 enlarged cisterna magna 59 32 occasional (7.5%) Occasional (29-5%) HP:0002280
28 spastic dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0002464
29 low back pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0003419
30 abnormality of the dorsal column of the spinal cord 59 32 occasional (7.5%) Occasional (29-5%) HP:0011397
31 nystagmus 32 occasional (7.5%) HP:0000639
32 impaired vibratory sensation 32 occasional (7.5%) HP:0002495
33 muscle spasm 32 occasional (7.5%) HP:0003394
34 developmental cataract 32 occasional (7.5%) HP:0000519
35 dysarthria 32 HP:0001260
36 gait disturbance 32 HP:0001288
37 hyperreflexia 32 HP:0001347
38 abnormal pyramidal sign 59 Frequent (79-30%)
39 cataract 32 HP:0000518
40 delayed skeletal maturation 32 HP:0002750
41 short stature 32 HP:0004322
42 gastroesophageal reflux 32 HP:0002020
43 vomiting 32 HP:0002013
44 carpal bone hypoplasia 32 HP:0001498
45 specific learning disability 32 HP:0001328
46 muscle cramps 59 Occasional (29-5%)
47 abnormality of pelvic girdle bone morphology 32 HP:0002644
48 spastic paraplegia 32 HP:0001258
49 dysfunction of lateral corticospinal tracts 32 HP:0007299
50 hiatus hernia 32 HP:0002036

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
hyperreflexia
hypertonia
dysfunction of lateral corticospinal tracts
lower limb spasticity
more
Head And Neck Eyes:
nystagmus (in some patients)
cataracts (in some patients)

Abdomen Gastrointestinal:
hiatal hernia (in some patients)
gastroesophageal reflux (in some patients)
vomiting (in some patients)

Genitourinary Bladder:
urinary urgency (in some patients)
urinary incontinence (in some patients)

Skeletal Skull:
dysplastic skull base (in some patients)

Skeletal Hands:
small carpal bones (in some patients)

Laboratory Abnormalities:
low plasma levels of citrulline, ornithine, proline, and arginine

Muscle Soft Tissue:
generalized amyotrophy

Growth Height:
short stature (in some patients)

Skeletal Feet:
pes cavus (in some patients)

Skeletal:
delayed bone age (in some patients)

Skeletal Pelvis:
dysplastic hips (in some patients)

Neurologic Peripheral Nervous System:
motor polyneuropathy (in some patients)
decreased vibration sense (in some patients)

Clinical features from OMIM:

601162

UMLS symptoms related to Spastic Paraplegia 9a, Autosomal Dominant:


upper motor neuron signs

Drugs & Therapeutics for Spastic Paraplegia 9a, Autosomal Dominant

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

Genetic Tests for Spastic Paraplegia 9a, Autosomal Dominant

Anatomical Context for Spastic Paraplegia 9a, Autosomal Dominant

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

41
Bone, Eye, Spinal Cord, Cerebellum

Publications for Spastic Paraplegia 9a, Autosomal Dominant

Articles related to Spastic Paraplegia 9a, Autosomal Dominant:

# Title Authors PMID Year
1
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. 8 71
26297558 2016
2
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 8 71
26026163 2015
3
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. 8 71
9973297 1999
4
Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome? 8 71
8779323 1996
5
Hereditary Spastic Paraplegia Overview 71
20301682 2000
6
P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9. 38
31402623 2019
7
Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment. 38
29915212 2018

Variations for Spastic Paraplegia 9a, Autosomal Dominant

ClinVar genetic disease variations for Spastic Paraplegia 9a, Autosomal Dominant:

6 (show all 42)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ALDH18A1 NM_002860.4(ALDH18A1): c.727G> C (p.Val243Leu) single nucleotide variant Pathogenic rs864321669 10:97392797-97392797 10:95633040-95633040
2 ALDH18A1 NM_002860.4(ALDH18A1): c.359T> C (p.Val120Ala) single nucleotide variant Pathogenic rs863224945 10:97397138-97397138 10:95637381-95637381
3 ALDH18A1 NM_002860.4(ALDH18A1): c.1994G> T (p.Arg665Leu) single nucleotide variant Pathogenic rs766264810 10:97371129-97371129 10:95611372-95611372
4 ALDH18A1 NM_002860.4(ALDH18A1): c.88+1G> A single nucleotide variant Likely pathogenic 10:97413046-97413046 10:95653289-95653289
5 ALDH18A1 NM_002860.4(ALDH18A1): c.2207-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs149309642 10:97366703-97366703 10:95606946-95606946
6 ALDH18A1 NM_002860.4(ALDH18A1): c.755G> A (p.Arg252Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs864321670 10:97392769-97392769 10:95633012-95633012
7 ALDH18A1 NM_002860.4(ALDH18A1): c.1308G> A (p.Leu436=) single nucleotide variant Conflicting interpretations of pathogenicity rs144816455 10:97380947-97380947 10:95621190-95621190
8 ALDH18A1 NM_002860.4(ALDH18A1): c.492C> T (p.Ala164=) single nucleotide variant Conflicting interpretations of pathogenicity rs150472102 10:97396916-97396916 10:95637159-95637159
9 ALDH18A1 NM_002860.4(ALDH18A1): c.2160C> T (p.Phe720=) single nucleotide variant Conflicting interpretations of pathogenicity rs374052426 10:97370000-97370000 10:95610243-95610243
10 ALDH18A1 NM_002860.4(ALDH18A1): c.1867G> A (p.Asp623Asn) single nucleotide variant Uncertain significance rs770815414 10:97373555-97373555 10:95613798-95613798
11 ALDH18A1 NM_002860.4(ALDH18A1): c.1201G> A (p.Asp401Asn) single nucleotide variant Uncertain significance rs1242600175 10:97385164-97385164 10:95625407-95625407
12 ALDH18A1 NM_002860.4(ALDH18A1): c.1604T> A (p.Leu535Gln) single nucleotide variant Uncertain significance rs200452017 10:97376235-97376235 10:95616478-95616478
13 ALDH18A1 NM_002860.4(ALDH18A1): c.1568C> T (p.Ala523Val) single nucleotide variant Uncertain significance rs529294368 10:97376271-97376271 10:95616514-95616514
14 ALDH18A1 NM_002860.4(ALDH18A1): c.551C> T (p.Ala184Val) single nucleotide variant Uncertain significance rs201428777 10:97396857-97396857 10:95637100-95637100
15 ALDH18A1 NM_002860.4(ALDH18A1): c.1777A> G (p.Ser593Gly) single nucleotide variant Uncertain significance rs1231068982 10:97373747-97373747 10:95613990-95613990
16 ALDH18A1 NM_002860.4(ALDH18A1): c.868G> A (p.Gly290Arg) single nucleotide variant Uncertain significance rs368147360 10:97388190-97388190 10:95628433-95628433
17 ALDH18A1 NM_002860.4(ALDH18A1): c.1264C> G (p.Leu422Val) single nucleotide variant Uncertain significance rs142712849 10:97380991-97380991 10:95621234-95621234
18 ALDH18A1 NM_002860.4(ALDH18A1): c.1015G> A (p.Val339Ile) single nucleotide variant Uncertain significance rs1346763871 10:97387262-97387262 10:95627505-95627505
19 ALDH18A1 NM_002860.4(ALDH18A1): c.428C> T (p.Ser143Leu) single nucleotide variant Uncertain significance 10:97397069-97397069 10:95637312-95637312
20 ALDH18A1 NM_002860.4(ALDH18A1): c.1393G> C (p.Glu465Gln) single nucleotide variant Uncertain significance 10:97380862-97380862 10:95621105-95621105
21 ALDH18A1 NM_002860.4(ALDH18A1): c.2231C> T (p.Ser744Leu) single nucleotide variant Uncertain significance 10:97366676-97366676 10:95606919-95606919
22 ALDH18A1 NM_002860.4(ALDH18A1): c.1233G> T (p.Leu411Phe) single nucleotide variant Uncertain significance 10:97385132-97385132 10:95625375-95625375
23 ALDH18A1 NM_002860.4(ALDH18A1): c.1078+4A> G single nucleotide variant Uncertain significance 10:97387195-97387195 10:95627438-95627438
24 ALDH18A1 NM_002860.4(ALDH18A1): c.709G> C (p.Gly237Arg) single nucleotide variant Uncertain significance 10:97393256-97393256 10:95633499-95633499
25 ALDH18A1 NM_002860.4(ALDH18A1): c.598C> T (p.Arg200Cys) single nucleotide variant Uncertain significance 10:97393367-97393367 10:95633610-95633610
26 ALDH18A1 NM_002860.4(ALDH18A1): c.1370G> A (p.Arg457His) single nucleotide variant Uncertain significance 10:97380885-97380885 10:95621128-95621128
27 ALDH18A1 NM_002860.4(ALDH18A1): c.847C> T (p.Leu283Phe) single nucleotide variant Uncertain significance 10:97388211-97388211 10:95628454-95628454
28 ALDH18A1 NM_002860.4(ALDH18A1): c.2383A> G (p.Asn795Asp) single nucleotide variant Uncertain significance 10:97366524-97366524 10:95606767-95606767
29 ALDH18A1 NM_002860.4(ALDH18A1): c.2276C> T (p.Thr759Ile) single nucleotide variant Uncertain significance 10:97366631-97366631 10:95606874-95606874
30 ALDH18A1 NM_002860.4(ALDH18A1): c.2077A> G (p.Ser693Gly) single nucleotide variant Uncertain significance 10:97371046-97371046 10:95611289-95611289
31 ALDH18A1 NM_002860.4(ALDH18A1): c.1865G> A (p.Arg622Gln) single nucleotide variant Uncertain significance 10:97373557-97373557 10:95613800-95613800
32 ALDH18A1 NM_002860.4(ALDH18A1): c.1237G> A (p.Glu413Lys) single nucleotide variant Uncertain significance 10:97385128-97385128 10:95625371-95625371
33 ALDH18A1 NM_002860.4(ALDH18A1): c.709G> T (p.Gly237Trp) single nucleotide variant Uncertain significance 10:97393256-97393256 10:95633499-95633499
34 ALDH18A1 NM_002860.4(ALDH18A1): c.169C> A (p.His57Asn) single nucleotide variant Uncertain significance 10:97402883-97402883 10:95643126-95643126
35 ALDH18A1 NM_002860.4(ALDH18A1): c.2232G> A (p.Ser744=) single nucleotide variant Likely benign rs148601288 10:97366675-97366675 10:95606918-95606918
36 ALDH18A1 NM_002860.4(ALDH18A1): c.678C> T (p.Val226=) single nucleotide variant Likely benign rs772829720 10:97393287-97393287 10:95633530-95633530
37 ALDH18A1 NM_002860.4(ALDH18A1): c.1770C> T (p.Ser590=) single nucleotide variant Benign/Likely benign rs11541780 10:97373754-97373754 10:95613997-95613997
38 ALDH18A1 NM_002860.4(ALDH18A1): c.1115C> A (p.Ser372Tyr) single nucleotide variant Benign/Likely benign rs3765571 10:97386497-97386497 10:95626740-95626740
39 ALDH18A1 NM_002860.4(ALDH18A1): c.1329C> T (p.Ile443=) single nucleotide variant Benign/Likely benign rs117709404 10:97380926-97380926 10:95621169-95621169
40 ALDH18A1 NM_002860.4(ALDH18A1): c.1029T> C (p.Ile343=) single nucleotide variant Benign/Likely benign rs41291566 10:97387248-97387248 10:95627491-95627491
41 ALDH18A1 NM_002860.4(ALDH18A1): c.1977C> T (p.Ser659=) single nucleotide variant Benign/Likely benign rs1804934 10:97371146-97371146 10:95611389-95611389
42 ALDH18A1 NM_002860.4(ALDH18A1): c.1942C> T (p.Pro648Ser) single nucleotide variant not provided rs768964431 10:97371181-97371181 10:95611424-95611424

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 9a, Autosomal Dominant:

74
# Symbol AA change Variation ID SNP ID
1 ALDH18A1 p.Val120Ala VAR_075885 rs863224945
2 ALDH18A1 p.Val243Leu VAR_075890 rs864321669
3 ALDH18A1 p.Arg252Gln VAR_075891 rs864321670
4 ALDH18A1 p.Ser652Phe VAR_075893
5 ALDH18A1 p.Arg665Leu VAR_075894 rs766264810

Expression for Spastic Paraplegia 9a, Autosomal Dominant

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

Pathways for Spastic Paraplegia 9a, Autosomal Dominant

GO Terms for Spastic Paraplegia 9a, Autosomal Dominant

Sources for Spastic Paraplegia 9a, Autosomal Dominant

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