SPG9A
MCID: SPS158
MIFTS: 32

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
Spg9a 56 12 73
Cataracts with Motor Neuronopathy, Short Stature, and Skeletal Abnormalities 56 73
Spastic Paraparesis-Amyopathy-Cataracts-Gastroesophageal Reflux Syndrome 12 58
Hereditary Spastic Paraplegia 9a 12 15
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, is also known as spg9a, 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 cerebellum, 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 : 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 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 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

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 hyperreflexia in upper limbs 58 31 hallmark (90%) Very frequent (99-80%) HP:0007350
3 lower limb hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002395
4 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
5 pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0001761
6 lower limb hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0006895
7 abnormality of pain sensation 58 31 frequent (33%) Frequent (79-30%) HP:0010832
8 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
9 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
10 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
11 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
12 memory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002354
13 falls 58 31 occasional (7.5%) Occasional (29-5%) HP:0002527
14 psychosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000709
15 developmental cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000519
16 mitral regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001653
17 dementia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000726
18 horizontal nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000666
19 abnormal cerebellum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001317
20 impaired vibration sensation in the lower limbs 58 31 occasional (7.5%) Occasional (29-5%) HP:0002166
21 lower limb pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0012514
22 urinary urgency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000012
23 urinary incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000020
24 corpus callosum atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007371
25 pollakisuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0100515
26 anarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002425
27 postural instability 58 31 occasional (7.5%) Occasional (29-5%) HP:0002172
28 enlarged cisterna magna 58 31 occasional (7.5%) Occasional (29-5%) HP:0002280
29 spastic dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002464
30 abnormality of the dorsal column of the spinal cord 58 31 occasional (7.5%) Occasional (29-5%) HP:0011397
31 low back pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0003419
32 nystagmus 31 occasional (7.5%) HP:0000639
33 impaired vibratory sensation 31 occasional (7.5%) HP:0002495
34 muscle spasm 31 occasional (7.5%) HP:0003394
35 hyperreflexia 31 HP:0001347
36 abnormal pyramidal sign 58 Frequent (79-30%)
37 dysarthria 31 HP:0001260
38 gait disturbance 31 HP:0001288
39 cataract 31 HP:0000518
40 delayed skeletal maturation 31 HP:0002750
41 short stature 31 HP:0004322
42 gastroesophageal reflux 31 HP:0002020
43 vomiting 31 HP:0002013
44 carpal bone hypoplasia 31 HP:0001498
45 specific learning disability 31 HP:0001328
46 abnormality of the cerebral white matter 58 Occasional (29-5%)
47 muscle cramps 58 Occasional (29-5%)
48 abnormality of pelvic girdle bone morphology 31 HP:0002644
49 spastic paraplegia 31 HP:0001258
50 dysfunction of lateral corticospinal tracts 31 HP:0007299

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
dysarthria
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:

40
Bone, Eye, Cerebellum, Spinal Cord, Skin

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 all 35) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALDH18A1 NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala)SNV Pathogenic 217118 rs863224945 10:97397138-97397138 10:95637381-95637381
2 ALDH18A1 NM_002860.4(ALDH18A1):c.1994G>T (p.Arg665Leu)SNV Pathogenic 217119 rs766264810 10:97371129-97371129 10:95611372-95611372
3 ALDH18A1 NM_002860.4(ALDH18A1):c.727G>C (p.Val243Leu)SNV Pathogenic 217116 rs864321669 10:97392797-97392797 10:95633040-95633040
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.755G>A (p.Arg252Gln)SNV Conflicting interpretations of pathogenicity 217117 rs864321670 10:97392769-97392769 10:95633012-95633012
6 ALDH18A1 NM_002860.4(ALDH18A1):c.1867G>A (p.Asp623Asn)SNV Uncertain significance 424961 rs770815414 10:97373555-97373555 10:95613798-95613798
7 ALDH18A1 NM_002860.4(ALDH18A1):c.551C>T (p.Ala184Val)SNV Uncertain significance 464042 rs201428777 10:97396857-97396857 10:95637100-95637100
8 ALDH18A1 NM_002860.4(ALDH18A1):c.1777A>G (p.Ser593Gly)SNV Uncertain significance 464040 rs1231068982 10:97373747-97373747 10:95613990-95613990
9 ALDH18A1 NM_002860.4(ALDH18A1):c.868G>A (p.Gly290Arg)SNV Uncertain significance 464043 rs368147360 10:97388190-97388190 10:95628433-95628433
10 ALDH18A1 NM_002860.4(ALDH18A1):c.1264C>G (p.Leu422Val)SNV Uncertain significance 464038 rs142712849 10:97380991-97380991 10:95621234-95621234
11 ALDH18A1 NM_002860.4(ALDH18A1):c.1015G>A (p.Val339Ile)SNV Uncertain significance 464037 rs1346763871 10:97387262-97387262 10:95627505-95627505
12 ALDH18A1 NM_002860.4(ALDH18A1):c.1201G>A (p.Asp401Asn)SNV Uncertain significance 517143 rs1242600175 10:97385164-97385164 10:95625407-95625407
13 ALDH18A1 NM_002860.4(ALDH18A1):c.1604T>A (p.Leu535Gln)SNV Uncertain significance 532701 rs200452017 10:97376235-97376235 10:95616478-95616478
14 ALDH18A1 NM_002860.4(ALDH18A1):c.428C>T (p.Ser143Leu)SNV Uncertain significance 581031 rs1302919102 10:97397069-97397069 10:95637312-95637312
15 ALDH18A1 NM_002860.4(ALDH18A1):c.1393G>C (p.Glu465Gln)SNV Uncertain significance 579657 rs757876226 10:97380862-97380862 10:95621105-95621105
16 ALDH18A1 NM_002860.4(ALDH18A1):c.2231C>T (p.Ser744Leu)SNV Uncertain significance 581547 rs762271422 10:97366676-97366676 10:95606919-95606919
17 ALDH18A1 NM_002860.4(ALDH18A1):c.1233G>T (p.Leu411Phe)SNV Uncertain significance 578899 rs758828421 10:97385132-97385132 10:95625375-95625375
18 ALDH18A1 NM_002860.4(ALDH18A1):c.1078+4A>GSNV Uncertain significance 578302 rs1566018543 10:97387195-97387195 10:95627438-95627438
19 ALDH18A1 NM_002860.4(ALDH18A1):c.709G>C (p.Gly237Arg)SNV Uncertain significance 573157 rs201841420 10:97393256-97393256 10:95633499-95633499
20 ALDH18A1 NM_002860.4(ALDH18A1):c.598C>T (p.Arg200Cys)SNV Uncertain significance 570966 rs201801058 10:97393367-97393367 10:95633610-95633610
21 ALDH18A1 NM_002860.4(ALDH18A1):c.1370G>A (p.Arg457His)SNV Uncertain significance 575749 rs570730665 10:97380885-97380885 10:95621128-95621128
22 ALDH18A1 NM_002860.4(ALDH18A1):c.847C>T (p.Leu283Phe)SNV Uncertain significance 566189 rs747291828 10:97388211-97388211 10:95628454-95628454
23 ALDH18A1 NM_002860.4(ALDH18A1):c.2383A>G (p.Asn795Asp)SNV Uncertain significance 665168 10:97366524-97366524 10:95606767-95606767
24 ALDH18A1 NM_002860.4(ALDH18A1):c.2276C>T (p.Thr759Ile)SNV Uncertain significance 664573 10:97366631-97366631 10:95606874-95606874
25 ALDH18A1 NM_002860.4(ALDH18A1):c.2077A>G (p.Ser693Gly)SNV Uncertain significance 658085 10:97371046-97371046 10:95611289-95611289
26 ALDH18A1 NM_002860.4(ALDH18A1):c.1865G>A (p.Arg622Gln)SNV Uncertain significance 658959 10:97373557-97373557 10:95613800-95613800
27 ALDH18A1 NM_002860.4(ALDH18A1):c.1237G>A (p.Glu413Lys)SNV Uncertain significance 647291 10:97385128-97385128 10:95625371-95625371
28 ALDH18A1 NM_002860.4(ALDH18A1):c.709G>T (p.Gly237Trp)SNV Uncertain significance 638826 10:97393256-97393256 10:95633499-95633499
29 ALDH18A1 NM_002860.4(ALDH18A1):c.169C>A (p.His57Asn)SNV Uncertain significance 660899 10:97402883-97402883 10:95643126-95643126
30 ALDH18A1 NM_002860.4(ALDH18A1):c.678C>T (p.Val226=)SNV Likely benign 464041 rs772829720 10:97393287-97393287 10:95633530-95633530
31 ALDH18A1 NM_002860.4(ALDH18A1):c.1029T>C (p.Ile343=)SNV Benign/Likely benign 258823 rs41291566 10:97387248-97387248 10:95627491-95627491
32 ALDH18A1 NM_002860.4(ALDH18A1):c.1770C>T (p.Ser590=)SNV Benign/Likely benign 301762 rs11541780 10:97373754-97373754 10:95613997-95613997
33 ALDH18A1 NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr)SNV Benign/Likely benign 301770 rs3765571 10:97386497-97386497 10:95626740-95626740
34 ALDH18A1 NM_002860.4(ALDH18A1):c.1977C>T (p.Ser659=)SNV Benign/Likely benign 301761 rs1804934 10:97371146-97371146 10:95611389-95611389
35 ALDH18A1 NM_002860.4(ALDH18A1):c.1942C>T (p.Pro648Ser)SNV not provided 441102 rs768964431 10:97371181-97371181 10:95611424-95611424

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

Sources for Spastic Paraplegia 9a, Autosomal Dominant

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