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SPG9A
MCID: SPS158
MIFTS: 30

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
Genes Variations Tissues Related diseases Symptoms & Phenotypes
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Aliases & Classifications for Spastic Paraplegia 9a, Autosomal Dominant

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

Name: Spastic Paraplegia 9a, Autosomal Dominant 57 75
Spg9a 57 12 75
Cataracts with Motor Neuronopathy, Short Stature, and Skeletal Abnormalities 57 75
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 75
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 73

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 genetic anticipation autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Mental diseases Skin diseases Nephrological diseases Ear diseases Gastrointestinal diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare neurological diseases
Rare eye diseases


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Summaries for Spastic Paraplegia 9a, Autosomal Dominant

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UniProtKB/Swiss-Prot : 75 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 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, cerebellum and skin, and related phenotypes are babinski sign and pes cavus

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)

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Related Diseases for Spastic Paraplegia 9a, Autosomal Dominant

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

# Related Disease Score Top Affiliating Genes
1 autosomal dominant spastic paraplegia type 9 11.6

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Symptoms & Phenotypes for Spastic Paraplegia 9a, Autosomal Dominant

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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

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

59 32 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 babinski sign 59 32 Frequent (79-30%) HP:0003487
2 pes cavus 59 32 Frequent (79-30%) HP:0001761
3 urinary urgency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000012
4 urinary incontinence 59 32 occasional (7.5%) Occasional (29-5%) HP:0000020
5 nystagmus 32 occasional (7.5%) HP:0000639
6 seizures 59 Occasional (29-5%)
7 dysarthria 32 HP:0001260
8 gait disturbance 32 HP:0001288
9 muscle weakness 59 Occasional (29-5%)
10 tremor 59 Occasional (29-5%)
11 hyperreflexia 32 HP:0001347
12 abnormal pyramidal signs 59 Frequent (79-30%)
13 cataract 32 HP:0000518
14 delayed skeletal maturation 32 HP:0002750
15 sensorineural hearing impairment 59 Occasional (29-5%)
16 short stature 32 HP:0004322
17 gastroesophageal reflux 32 HP:0002020
18 vomiting 32 HP:0002013
19 carpal bone hypoplasia 32 HP:0001498
20 specific learning disability 32 HP:0001328
21 falls 59 Occasional (29-5%)
22 memory impairment 59 Occasional (29-5%)
23 psychosis 59 Occasional (29-5%)
24 mitral regurgitation 59 Occasional (29-5%)
25 muscle cramps 59 Occasional (29-5%)
26 dementia 59 Occasional (29-5%)
27 abnormality of pelvic girdle bone morphology 32 HP:0002644
28 horizontal nystagmus 59 Occasional (29-5%)
29 spastic paraplegia 32 HP:0001258
30 dysfunction of lateral corticospinal tracts 32 HP:0007299
31 hiatus hernia 32 HP:0002036
32 abnormality of the cerebellum 59 Occasional (29-5%)
33 lower limb muscle weakness 32 HP:0007340
34 lower limb spasticity 32 HP:0002061
35 impaired vibration sensation in the lower limbs 59 Occasional (29-5%)
36 lower limb pain 59 Occasional (29-5%)
37 spastic gait 59 Very frequent (99-80%)
38 hyperreflexia in upper limbs 59 Very frequent (99-80%)
39 lower limb hypertonia 59 Frequent (79-30%)
40 corpus callosum atrophy 59 Occasional (29-5%)
41 pollakisuria 59 Occasional (29-5%)
42 generalized amyotrophy 32 HP:0003700
43 anarthria 59 Occasional (29-5%)
44 postural instability 59 Occasional (29-5%)
45 impaired vibratory sensation 32 occasional (7.5%) HP:0002495
46 spastic dysarthria 59 Occasional (29-5%)
47 lower limb hyperreflexia 59 Very frequent (99-80%)
48 congenital cataract 59 Occasional (29-5%)
49 abnormal upper motor neuron morphology 32 HP:0002127
50 abnormality of the cerebral white matter 59 Occasional (29-5%)

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


upper motor neuron signs
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Drugs & Therapeutics for Spastic Paraplegia 9a, Autosomal Dominant

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

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Genetic Tests for Spastic Paraplegia 9a, Autosomal Dominant

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Anatomical Context for Spastic Paraplegia 9a, Autosomal Dominant

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

41
Bone, Cerebellum, Skin, Eye, Spinal Cord
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Publications for Spastic Paraplegia 9a, Autosomal Dominant

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Variations for Spastic Paraplegia 9a, Autosomal Dominant

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

75
# 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 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
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Expression for Spastic Paraplegia 9a, Autosomal Dominant

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

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GO Terms for Spastic Paraplegia 9a, Autosomal Dominant

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Sources for Spastic Paraplegia 9a, Autosomal Dominant

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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