SPG9A
MCID: SPS158
MIFTS: 44

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 56 73
Hereditary Spastic Paraplegia 9a 12 29 6 15
Spg9a 56 12 73
Cataracts with Motor Neuronopathy, Short Stature, and Skeletal Abnormalities 56 73
Spastic Paraparesis-Amyopathy-Cataracts-Gastroesophageal Reflux Syndrome 12 58
Ad-Spg9a 12 58
Spastic Paraparesis with Amyotrophy, Cataracts, and Gastroesophageal Reflux 56
Cataracts with Motor Neuronopathy, Short Stature and Skeletal Abnormalities 12
Spastic Paraparesis with Amyopathy, Cataracts, and Gastroesophageal Reflux 73
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 58
Autosomal Dominant Complex Spastic Paraplegia Type 9a 12
Autosomal Dominant Spastic Paraplegia Type 9a 58
Autosomal Dominant Spastic Paraplegia 9a 12
Spastic Paraplegia 9, Autosomal Dominant 71

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant spastic paraplegia type 9a
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Infancy;

OMIM:

56
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:

31
spastic paraplegia 9a, autosomal dominant:
Inheritance autosomal dominant inheritance genetic anticipation
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Spastic Paraplegia 9a, Autosomal Dominant

UniProtKB/Swiss-Prot : 73 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 hereditary spastic paraplegia 9a, is related to cutis laxa and autosomal recessive cutis laxa type iii, 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), and among its related pathways/superpathways are Carbon metabolism and Amino Acid metabolism. Affiliated tissues include bone, eye and cerebellum, and related phenotypes are spastic gait and lower limb hyperreflexia

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

OMIM : 56 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 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
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 9a, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 cutis laxa 9.9 PYCR1 ALDH18A1
2 autosomal recessive cutis laxa type iii 9.9 PYCR1 ALDH18A1
3 autosomal recessive cutis laxa type i 9.9 PYCR1 ALDH18A1
4 cutis laxa, autosomal recessive, type iiib 9.9 PYCR1 ALDH18A1
5 cutis laxa, autosomal recessive, type ib 9.9 PYCR1 ALDH18A1
6 cutis laxa, autosomal recessive, type iia 9.9 PYCR1 ALDH18A1
7 cutis laxa, autosomal recessive, type iiia 9.9 PYCR1 ALDH18A1
8 borderline glaucoma 9.8 PYCR3 PYCR1
9 cutis laxa, autosomal recessive, type ic 9.8 PYCR1 ALDH18A1
10 cutis laxa, autosomal recessive, type ia 9.8 PYCR1 ALDH18A1
11 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 9.8 OTC ALDH18A1
12 autosomal recessive cutis laxa type ii classic type 9.7 PYCR1 ALDH18A1
13 leukodystrophy, hypomyelinating, 10 9.7 PYCR3 PYCR1
14 neu-laxova syndrome 2 9.6 PYCR1 ALDH18A1
15 cutis laxa, autosomal recessive, type iib 9.5 PYCR3 PYCR1 ALDH18A1
16 hyperprolinemia 9.5 PYCR3 PYCR1 ALDH18A1
17 geroderma osteodysplasticum 9.5 PYCR1 ALDH18A1
18 spastic paraplegia 9b, autosomal recessive 8.2 PYCR3 PYCR1 PPP2R3C OTC GDAP1 ALDH18A1

Graphical network of the top 20 diseases related to Spastic Paraplegia 9a, Autosomal Dominant:



Diseases related to Spastic Paraplegia 9a, Autosomal Dominant

Symptoms & Phenotypes for Spastic Paraplegia 9a, Autosomal Dominant

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

58 31 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spastic gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0002064
2 lower limb hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002395
3 hyperreflexia in upper limbs 58 31 hallmark (90%) Very frequent (99-80%) HP:0007350
4 pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0001761
5 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
6 abnormality of pain sensation 58 31 frequent (33%) Frequent (79-30%) HP:0010832
7 lower limb hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0006895
8 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
9 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
10 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
11 memory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002354
12 mitral regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001653
13 psychosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000709
14 abnormal cerebellum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001317
15 dementia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000726
16 muscle spasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0003394
17 anarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002425
18 urinary incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000020
19 developmental cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000519
20 horizontal nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000666
21 pollakisuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0100515
22 postural instability 58 31 occasional (7.5%) Occasional (29-5%) HP:0002172
23 urinary urgency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000012
24 spastic dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002464
25 corpus callosum atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007371
26 falls 58 31 occasional (7.5%) Occasional (29-5%) HP:0002527
27 impaired vibration sensation in the lower limbs 58 31 occasional (7.5%) Occasional (29-5%) HP:0002166
28 lower limb pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0012514
29 enlarged cisterna magna 58 31 occasional (7.5%) Occasional (29-5%) HP:0002280
30 low back pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0003419
31 abnormality of the dorsal column of the spinal cord 58 31 occasional (7.5%) Occasional (29-5%) HP:0011397
32 nystagmus 31 occasional (7.5%) HP:0000639
33 impaired vibratory sensation 31 occasional (7.5%) HP:0002495
34 seizure 31 occasional (7.5%) HP:0001250
35 cataract 31 HP:0000518
36 delayed skeletal maturation 31 HP:0002750
37 seizures 58 Occasional (29-5%)
38 short stature 31 HP:0004322
39 gastroesophageal reflux 31 HP:0002020
40 vomiting 31 HP:0002013
41 gait disturbance 31 HP:0001288
42 abnormal pyramidal sign 58 Frequent (79-30%)
43 hyperreflexia 31 HP:0001347
44 specific learning disability 31 HP:0001328
45 dysarthria 31 HP:0001260
46 abnormality of pelvic girdle bone morphology 31 HP:0002644
47 dysfunction of lateral corticospinal tracts 31 HP:0007299
48 spastic paraplegia 31 HP:0001258
49 hiatus hernia 31 HP:0002036
50 abnormality of the cerebral white matter 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hypertonia
hyperreflexia
dysarthria
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

Genetic tests related to Spastic Paraplegia 9a, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Hereditary Spastic Paraplegia 9a 29 ALDH18A1

Anatomical Context for Spastic Paraplegia 9a, Autosomal Dominant

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

40
Bone, Eye, Cerebellum, Spinal Cord

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. 56 6
26297558 2016
2
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 56 6
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. 56 6
9973297 1999
4
Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome? 56 6
8779323 1996
5
Hereditary Spastic Paraplegia Overview 6
20301682 2000
6
Δ1 -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder. 61
32017139 2020
7
P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9. 61
31402623 2019
8
Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment. 61
29915212 2018

Variations for Spastic Paraplegia 9a, Autosomal Dominant

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

6 (show top 50) (show all 60) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALDH18A1 NM_002860.4(ALDH18A1):c.727G>C (p.Val243Leu)SNV Pathogenic 217116 rs864321669 10:97392797-97392797 10:95633040-95633040
2 ALDH18A1 NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala)SNV Pathogenic 217118 rs863224945 10:97397138-97397138 10:95637381-95637381
3 ALDH18A1 NM_002860.4(ALDH18A1):c.1994G>T (p.Arg665Leu)SNV Pathogenic 217119 rs766264810 10:97371129-97371129 10:95611372-95611372
4 ALDH18A1 NM_002860.4(ALDH18A1):c.88+1G>ASNV Likely pathogenic 659530 10:97413046-97413046 10:95653289-95653289
5 ALDH18A1 NM_002860.4(ALDH18A1):c.1314C>T (p.Ile438=)SNV Conflicting interpretations of pathogenicity 444231 rs150526956 10:97380941-97380941 10:95621184-95621184
6 ALDH18A1 NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln)SNV Conflicting interpretations of pathogenicity 217117 rs864321670 10:97392769-97392769 10:95633012-95633012
7 ALDH18A1 NM_002860.4(ALDH18A1):c.1740C>T (p.Ser580=)SNV Conflicting interpretations of pathogenicity 301763 rs139035272 10:97373784-97373784 10:95614027-95614027
8 ALDH18A1 NM_002860.4(ALDH18A1):c.1308G>A (p.Leu436=)SNV Conflicting interpretations of pathogenicity 301768 rs144816455 10:97380947-97380947 10:95621190-95621190
9 ALDH18A1 NM_002860.4(ALDH18A1):c.492C>T (p.Ala164=)SNV Conflicting interpretations of pathogenicity 301775 rs150472102 10:97396916-97396916 10:95637159-95637159
10 ALDH18A1 NM_002860.4(ALDH18A1):c.2232G>A (p.Ser744=)SNV Conflicting interpretations of pathogenicity 391463 rs148601288 10:97366675-97366675 10:95606918-95606918
11 ALDH18A1 NM_002860.4(ALDH18A1):c.2160C>T (p.Phe720=)SNV Conflicting interpretations of pathogenicity 392692 rs374052426 10:97370000-97370000 10:95610243-95610243
12 ALDH18A1 NM_002860.4(ALDH18A1):c.2140G>A (p.Val714Ile)SNV Uncertain significance 862391 10:97370020-97370020 10:95610263-95610263
13 ALDH18A1 NM_002860.4(ALDH18A1):c.1199G>A (p.Arg400His)SNV Uncertain significance 862839 10:97385166-97385166 10:95625409-95625409
14 ALDH18A1 NM_002860.4(ALDH18A1):c.1073C>T (p.Pro358Leu)SNV Uncertain significance 862860 10:97387204-97387204 10:95627447-95627447
15 ALDH18A1 NM_002860.4(ALDH18A1):c.959A>G (p.Gln320Arg)SNV Uncertain significance 854542 10:97387318-97387318 10:95627561-95627561
16 ALDH18A1 NM_002860.4(ALDH18A1):c.887C>A (p.Thr296Lys)SNV Uncertain significance 860228 10:97388171-97388171 10:95628414-95628414
17 ALDH18A1 NM_002860.4(ALDH18A1):c.164G>A (p.Arg55His)SNV Uncertain significance 863417 10:97402888-97402888 10:95643131-95643131
18 ALDH18A1 NM_002860.4(ALDH18A1):c.87T>G (p.Ser29=)SNV Uncertain significance 834810 10:97413048-97413048 10:95653291-95653291
19 ALDH18A1 NM_002860.4(ALDH18A1):c.1867G>A (p.Asp623Asn)SNV Uncertain significance 424961 rs770815414 10:97373555-97373555 10:95613798-95613798
20 ALDH18A1 NM_002860.4(ALDH18A1):c.551C>T (p.Ala184Val)SNV Uncertain significance 464042 rs201428777 10:97396857-97396857 10:95637100-95637100
21 ALDH18A1 NM_002860.4(ALDH18A1):c.1777A>G (p.Ser593Gly)SNV Uncertain significance 464040 rs1231068982 10:97373747-97373747 10:95613990-95613990
22 ALDH18A1 NM_002860.4(ALDH18A1):c.868G>A (p.Gly290Arg)SNV Uncertain significance 464043 rs368147360 10:97388190-97388190 10:95628433-95628433
23 ALDH18A1 NM_002860.4(ALDH18A1):c.1264C>G (p.Leu422Val)SNV Uncertain significance 464038 rs142712849 10:97380991-97380991 10:95621234-95621234
24 ALDH18A1 NM_002860.4(ALDH18A1):c.1015G>A (p.Val339Ile)SNV Uncertain significance 464037 rs1346763871 10:97387262-97387262 10:95627505-95627505
25 ALDH18A1 NM_002860.4(ALDH18A1):c.1201G>A (p.Asp401Asn)SNV Uncertain significance 517143 rs1242600175 10:97385164-97385164 10:95625407-95625407
26 ALDH18A1 NM_002860.4(ALDH18A1):c.1604T>A (p.Leu535Gln)SNV Uncertain significance 532701 rs200452017 10:97376235-97376235 10:95616478-95616478
27 ALDH18A1 NM_002860.4(ALDH18A1):c.428C>T (p.Ser143Leu)SNV Uncertain significance 581031 rs1302919102 10:97397069-97397069 10:95637312-95637312
28 ALDH18A1 NM_002860.4(ALDH18A1):c.1393G>C (p.Glu465Gln)SNV Uncertain significance 579657 rs757876226 10:97380862-97380862 10:95621105-95621105
29 ALDH18A1 NM_002860.4(ALDH18A1):c.2231C>T (p.Ser744Leu)SNV Uncertain significance 581547 rs762271422 10:97366676-97366676 10:95606919-95606919
30 ALDH18A1 NM_002860.4(ALDH18A1):c.1233G>T (p.Leu411Phe)SNV Uncertain significance 578899 rs758828421 10:97385132-97385132 10:95625375-95625375
31 ALDH18A1 NM_002860.4(ALDH18A1):c.1078+4A>GSNV Uncertain significance 578302 rs1566018543 10:97387195-97387195 10:95627438-95627438
32 ALDH18A1 NM_002860.4(ALDH18A1):c.709G>C (p.Gly237Arg)SNV Uncertain significance 573157 rs201841420 10:97393256-97393256 10:95633499-95633499
33 ALDH18A1 NM_002860.4(ALDH18A1):c.598C>T (p.Arg200Cys)SNV Uncertain significance 570966 rs201801058 10:97393367-97393367 10:95633610-95633610
34 ALDH18A1 NM_002860.4(ALDH18A1):c.1370G>A (p.Arg457His)SNV Uncertain significance 575749 rs570730665 10:97380885-97380885 10:95621128-95621128
35 ALDH18A1 NM_002860.4(ALDH18A1):c.847C>T (p.Leu283Phe)SNV Uncertain significance 566189 rs747291828 10:97388211-97388211 10:95628454-95628454
36 ALDH18A1 NM_002860.4(ALDH18A1):c.2383A>G (p.Asn795Asp)SNV Uncertain significance 665168 10:97366524-97366524 10:95606767-95606767
37 ALDH18A1 NM_002860.4(ALDH18A1):c.2276C>T (p.Thr759Ile)SNV Uncertain significance 664573 10:97366631-97366631 10:95606874-95606874
38 ALDH18A1 NM_002860.4(ALDH18A1):c.2077A>G (p.Ser693Gly)SNV Uncertain significance 658085 10:97371046-97371046 10:95611289-95611289
39 ALDH18A1 NM_002860.4(ALDH18A1):c.1865G>A (p.Arg622Gln)SNV Uncertain significance 658959 10:97373557-97373557 10:95613800-95613800
40 ALDH18A1 NM_002860.4(ALDH18A1):c.1237G>A (p.Glu413Lys)SNV Uncertain significance 647291 10:97385128-97385128 10:95625371-95625371
41 ALDH18A1 NM_002860.4(ALDH18A1):c.709G>T (p.Gly237Trp)SNV Uncertain significance 638826 10:97393256-97393256 10:95633499-95633499
42 ALDH18A1 NM_002860.4(ALDH18A1):c.169C>A (p.His57Asn)SNV Uncertain significance 660899 10:97402883-97402883 10:95643126-95643126
43 ALDH18A1 NM_002860.4(ALDH18A1):c.678C>T (p.Val226=)SNV Likely benign 464041 rs772829720 10:97393287-97393287 10:95633530-95633530
44 ALDH18A1 NM_002860.4(ALDH18A1):c.2111-7C>ASNV Likely benign 513428 rs542177817 10:97370056-97370056 10:95610299-95610299
45 ALDH18A1 NM_002860.4(ALDH18A1):c.1568C>T (p.Ala523Val)SNV Likely benign 464039 rs529294368 10:97376271-97376271 10:95616514-95616514
46 ALDH18A1 NM_002860.4(ALDH18A1):c.1253T>A (p.Leu418His)SNV Likely benign 706650 10:97381002-97381002 10:95621245-95621245
47 ALDH18A1 NM_002860.4(ALDH18A1):c.948C>T (p.Leu316=)SNV Likely benign 702588 10:97387329-97387329 10:95627572-95627572
48 ALDH18A1 NM_002860.4(ALDH18A1):c.219C>T (p.Ile73=)SNV Likely benign 791719 10:97402833-97402833 10:95643076-95643076
49 ALDH18A1 NM_002860.4(ALDH18A1):c.75C>T (p.Thr25=)SNV Likely benign 784762 10:97413060-97413060 10:95653303-95653303
50 ALDH18A1 NM_002860.4(ALDH18A1):c.1635T>C (p.Leu545=)SNV Likely benign 713650 10:97373889-97373889 10:95614132-95614132

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

73
# 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

Cellular components related to Spastic Paraplegia 9a, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.92 PYCR1 OTC GDAP1 ALDH18A1

Biological processes related to Spastic Paraplegia 9a, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.5 PYCR3 PYCR1 ALDH18A1
2 L-proline biosynthetic process GO:0055129 9.33 PYCR3 PYCR1 ALDH18A1
3 citrulline biosynthetic process GO:0019240 9.26 OTC ALDH18A1
4 proline biosynthetic process GO:0006561 9.13 PYCR3 PYCR1 ALDH18A1
5 cellular amino acid biosynthetic process GO:0008652 8.92 PYCR3 PYCR1 OTC ALDH18A1

Molecular functions related to Spastic Paraplegia 9a, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.33 PYCR3 PYCR1 ALDH18A1
2 identical protein binding GO:0042802 9.26 PYCR3 PYCR1 OTC ALDH18A1
3 pyrroline-5-carboxylate reductase activity GO:0004735 8.62 PYCR3 PYCR1

Sources for Spastic Paraplegia 9a, Autosomal Dominant

3 CDC
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10 dbSNP
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17 EFO
18 ExPASy
19 FMA
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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