SPG9A
MCID: SPS158
MIFTS: 29

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, 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 58 76
Spg9a 58 12 76
Cataracts with Motor Neuronopathy, Short Stature, and Skeletal Abnormalities 58 76
Spastic Paraparesis-Amyopathy-Cataracts-Gastroesophageal Reflux Syndrome 12 60
Hereditary Spastic Paraplegia 9a 12 15
Ad-Spg9a 12 60
Spastic Paraparesis with Amyotrophy, Cataracts, and Gastroesophageal Reflux 58
Cataracts with Motor Neuronopathy, Short Stature and Skeletal Abnormalities 12
Spastic Paraparesis with Amyopathy, Cataracts, and Gastroesophageal Reflux 76
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 60
Autosomal Dominant Complex Spastic Paraplegia Type 9a 12
Autosomal Dominant Spastic Paraplegia Type 9a 60
Autosomal Dominant Spastic Paraplegia 9a 12
Spastic Paraplegia 9, Autosomal Dominant 74

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant spastic paraplegia type 9a
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Infancy;

OMIM:

58
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:

33
spastic paraplegia 9a, autosomal dominant:
Inheritance genetic anticipation autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:



Summaries for Spastic Paraplegia 9a, Autosomal Dominant

UniProtKB/Swiss-Prot : 76 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, spinal cord 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 : 58 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 Hereditary Spastic Paraplegia 23
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 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

Symptoms & Phenotypes for Spastic Paraplegia 9a, Autosomal Dominant

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

60 33 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spastic gait 60 33 hallmark (90%) Very frequent (99-80%) HP:0002064
2 hyperreflexia in upper limbs 60 33 hallmark (90%) Very frequent (99-80%) HP:0007350
3 lower limb hyperreflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002395
4 babinski sign 60 33 frequent (33%) Frequent (79-30%) HP:0003487
5 pes cavus 60 33 frequent (33%) Frequent (79-30%) HP:0001761
6 lower limb hypertonia 60 33 frequent (33%) Frequent (79-30%) HP:0006895
7 abnormality of pain sensation 60 33 frequent (33%) Frequent (79-30%) HP:0010832
8 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
9 muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0001324
10 tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0001337
11 sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000407
12 falls 60 33 occasional (7.5%) Occasional (29-5%) HP:0002527
13 memory impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0002354
14 psychosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000709
15 mitral regurgitation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001653
16 dementia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000726
17 horizontal nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000666
18 impaired vibration sensation in the lower limbs 60 33 occasional (7.5%) Occasional (29-5%) HP:0002166
19 lower limb pain 60 33 occasional (7.5%) Occasional (29-5%) HP:0012514
20 urinary urgency 60 33 occasional (7.5%) Occasional (29-5%) HP:0000012
21 urinary incontinence 60 33 occasional (7.5%) Occasional (29-5%) HP:0000020
22 corpus callosum atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0007371
23 pollakisuria 60 33 occasional (7.5%) Occasional (29-5%) HP:0100515
24 anarthria 60 33 occasional (7.5%) Occasional (29-5%) HP:0002425
25 postural instability 60 33 occasional (7.5%) Occasional (29-5%) HP:0002172
26 enlarged cisterna magna 60 33 occasional (7.5%) Occasional (29-5%) HP:0002280
27 spastic dysarthria 60 33 occasional (7.5%) Occasional (29-5%) HP:0002464
28 low back pain 60 33 occasional (7.5%) Occasional (29-5%) HP:0003419
29 abnormality of the dorsal column of the spinal cord 60 33 occasional (7.5%) Occasional (29-5%) HP:0011397
30 nystagmus 33 occasional (7.5%) HP:0000639
31 impaired vibratory sensation 33 occasional (7.5%) HP:0002495
32 muscle spasm 33 occasional (7.5%) HP:0003394
33 developmental cataract 33 occasional (7.5%) HP:0000519
34 abnormal cerebellum morphology 33 occasional (7.5%) HP:0001317
35 dysarthria 33 HP:0001260
36 gait disturbance 33 HP:0001288
37 hyperreflexia 33 HP:0001347
38 abnormal pyramidal sign 60 Frequent (79-30%)
39 cataract 33 HP:0000518
40 delayed skeletal maturation 33 HP:0002750
41 short stature 33 HP:0004322
42 gastroesophageal reflux 33 HP:0002020
43 vomiting 33 HP:0002013
44 carpal bone hypoplasia 33 HP:0001498
45 specific learning disability 33 HP:0001328
46 muscle cramps 60 Occasional (29-5%)
47 abnormality of pelvic girdle bone morphology 33 HP:0002644
48 spastic paraplegia 33 HP:0001258
49 dysfunction of lateral corticospinal tracts 33 HP:0007299
50 hiatus hernia 33 HP:0002036

Symptoms via clinical synopsis from OMIM:

58
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:

42
Bone, Spinal Cord, Cerebellum, Eye, Skin

Publications for Spastic Paraplegia 9a, Autosomal Dominant

Variations for Spastic Paraplegia 9a, Autosomal Dominant

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

76
# 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

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

6 (show top 50) (show all 68)
# 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 Conflicting interpretations of pathogenicity rs864321670 GRCh38 Chromosome 10, 95633012: 95633012
4 ALDH18A1 NM_002860.3(ALDH18A1): c.755G> A (p.Arg252Gln) single nucleotide variant Conflicting interpretations of pathogenicity 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 Conflicting interpretations of pathogenicity rs374052426 GRCh37 Chromosome 10, 97370000: 97370000
28 ALDH18A1 NM_002860.3(ALDH18A1): c.2160C> T (p.Phe720=) single nucleotide variant Conflicting interpretations of pathogenicity rs374052426 GRCh38 Chromosome 10, 95610243: 95610243
29 ALDH18A1 NM_002860.3(ALDH18A1): c.1867G> A (p.Asp623Asn) single nucleotide variant Uncertain significance rs770815414 GRCh37 Chromosome 10, 97373555: 97373555
30 ALDH18A1 NM_002860.3(ALDH18A1): c.1867G> A (p.Asp623Asn) single nucleotide variant Uncertain significance rs770815414 GRCh38 Chromosome 10, 95613798: 95613798
31 ALDH18A1 NM_002860.3(ALDH18A1): c.1942C> T (p.Pro648Ser) single nucleotide variant not provided rs768964431 GRCh37 Chromosome 10, 97371181: 97371181
32 ALDH18A1 NM_002860.3(ALDH18A1): c.1942C> T (p.Pro648Ser) single nucleotide variant not provided rs768964431 GRCh38 Chromosome 10, 95611424: 95611424
33 ALDH18A1 NM_002860.3(ALDH18A1): c.1568C> T (p.Ala523Val) single nucleotide variant Uncertain significance rs529294368 GRCh37 Chromosome 10, 97376271: 97376271
34 ALDH18A1 NM_002860.3(ALDH18A1): c.1568C> T (p.Ala523Val) single nucleotide variant Uncertain significance rs529294368 GRCh38 Chromosome 10, 95616514: 95616514
35 ALDH18A1 NM_002860.3(ALDH18A1): c.551C> T (p.Ala184Val) single nucleotide variant Uncertain significance rs201428777 GRCh37 Chromosome 10, 97396857: 97396857
36 ALDH18A1 NM_002860.3(ALDH18A1): c.551C> T (p.Ala184Val) single nucleotide variant Uncertain significance rs201428777 GRCh38 Chromosome 10, 95637100: 95637100
37 ALDH18A1 NM_002860.3(ALDH18A1): c.1777A> G (p.Ser593Gly) single nucleotide variant Uncertain significance rs1231068982 GRCh37 Chromosome 10, 97373747: 97373747
38 ALDH18A1 NM_002860.3(ALDH18A1): c.1777A> G (p.Ser593Gly) single nucleotide variant Uncertain significance rs1231068982 GRCh38 Chromosome 10, 95613990: 95613990
39 ALDH18A1 NM_002860.3(ALDH18A1): c.868G> A (p.Gly290Arg) single nucleotide variant Uncertain significance rs368147360 GRCh37 Chromosome 10, 97388190: 97388190
40 ALDH18A1 NM_002860.3(ALDH18A1): c.868G> A (p.Gly290Arg) single nucleotide variant Uncertain significance rs368147360 GRCh38 Chromosome 10, 95628433: 95628433
41 ALDH18A1 NM_002860.3(ALDH18A1): c.1264C> G (p.Leu422Val) single nucleotide variant Uncertain significance rs142712849 GRCh37 Chromosome 10, 97380991: 97380991
42 ALDH18A1 NM_002860.3(ALDH18A1): c.1264C> G (p.Leu422Val) single nucleotide variant Uncertain significance rs142712849 GRCh38 Chromosome 10, 95621234: 95621234
43 ALDH18A1 NM_002860.3(ALDH18A1): c.1015G> A (p.Val339Ile) single nucleotide variant Uncertain significance rs1346763871 GRCh37 Chromosome 10, 97387262: 97387262
44 ALDH18A1 NM_002860.3(ALDH18A1): c.1015G> A (p.Val339Ile) single nucleotide variant Uncertain significance rs1346763871 GRCh38 Chromosome 10, 95627505: 95627505
45 ALDH18A1 NM_002860.3(ALDH18A1): c.678C> T (p.Val226=) single nucleotide variant Likely benign rs772829720 GRCh37 Chromosome 10, 97393287: 97393287
46 ALDH18A1 NM_002860.3(ALDH18A1): c.678C> T (p.Val226=) single nucleotide variant Likely benign rs772829720 GRCh38 Chromosome 10, 95633530: 95633530
47 ALDH18A1 NM_002860.3(ALDH18A1): c.1201G> A (p.Asp401Asn) single nucleotide variant Uncertain significance rs1242600175 GRCh37 Chromosome 10, 97385164: 97385164
48 ALDH18A1 NM_002860.3(ALDH18A1): c.1201G> A (p.Asp401Asn) single nucleotide variant Uncertain significance rs1242600175 GRCh38 Chromosome 10, 95625407: 95625407
49 ALDH18A1 NM_002860.3(ALDH18A1): c.1604T> A (p.Leu535Gln) single nucleotide variant Uncertain significance rs200452017 GRCh37 Chromosome 10, 97376235: 97376235
50 ALDH18A1 NM_002860.3(ALDH18A1): c.1604T> A (p.Leu535Gln) single nucleotide variant Uncertain significance rs200452017 GRCh38 Chromosome 10, 95616478: 95616478

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

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