SPG8
MCID: SPS149
MIFTS: 37

Spastic Paraplegia 8, Autosomal Dominant (SPG8)

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 8, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 8, Autosomal Dominant:

Name: Spastic Paraplegia 8, Autosomal Dominant 58 76 13 74
Spg8 58 12 60 76
Autosomal Dominant Spastic Paraplegia Type 8 12 60
Hereditary Spastic Paraplegia 8 12 15
Paraplegia, Spastic, Autosomal Dominant, Type 8 41
Autosomal Dominant Spastic Paraplegia 8 12

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant spastic paraplegia type 8
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
insidious onset
severe phenotype
adult onset (18 to 60 years)


HPO:

33
spastic paraplegia 8, autosomal dominant:
Onset and clinical course adult onset insidious onset progressive
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110823
OMIM 58 603563
MeSH 45 D015419
ICD10 34 G11.4
MESH via Orphanet 46 C536867
ICD10 via Orphanet 35 G11.4
UMLS via Orphanet 75 C1863704
Orphanet 60 ORPHA100989
MedGen 43 C1863704
UMLS 74 C1863704

Summaries for Spastic Paraplegia 8, Autosomal Dominant

OMIM : 58 Spastic paraplegia-8 is an autosomal dominant neurologic disorder characterized by adult onset of progressive lower limb spasticity and hyperreflexia resulting in difficulty walking. Some patients may become wheelchair-bound after several decades. Other features may include upper limb spasticity, impaired vibration sense in the distal lower limbs, and urinary urgency or incontinence (summary by de Bot et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600). (603563)

MalaCards based summary : Spastic Paraplegia 8, Autosomal Dominant, also known as spg8, is related to spasticity and paraplegia, and has symptoms including urgency of micturition An important gene associated with Spastic Paraplegia 8, Autosomal Dominant is WASHC5 (WASH Complex Subunit 5). Affiliated tissues include spinal cord, and related phenotypes are babinski sign and difficulty walking

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the KIAA0196 gene on chromosome 8q24.

UniProtKB/Swiss-Prot : 76 Spastic paraplegia 8, 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.

Related Diseases for Spastic Paraplegia 8, 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 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 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 8, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 spasticity 29.7 KIF1A WASHC5
2 paraplegia 28.6 AP5Z1 ATL1 ERLIN2 KIF1A KIF5A SPG11
3 hereditary spastic paraplegia 27.9 ALDH18A1 AP5Z1 ATL1 ERLIN2 KIF1A KIF5A
4 spastic paraplegia 8 11.5
5 spastic paraplegia 32, autosomal recessive 10.1 ATL1 SPG11
6 spastic paraplegia 3, autosomal dominant 10.1 ATL1 SPG11
7 spastic paraplegia 2, x-linked 10.1 AP5Z1 ATL1
8 spastic paraplegia 15, autosomal recessive 10.1 AP5Z1 SPG11
9 spastic paraparesis 10.0 ALDH18A1 SPG11
10 spastic paraplegia 31, autosomal dominant 9.9 AP5Z1 ATL1 SPG11
11 masa syndrome 9.9 AP5Z1 ATL1 SPG11
12 spastic paraplegia 18, autosomal recessive 9.9 AP5Z1 ERLIN2 WASHC5
13 spastic paraplegia 47, autosomal recessive 9.9 AP5Z1 ERLIN2 WASHC5
14 spastic paraplegia 39, autosomal recessive 9.9 AP5Z1 ERLIN2 WASHC5
15 spastic paraplegia 42, autosomal dominant 9.9 AP5Z1 ERLIN2 WASHC5
16 spastic paraplegia 4, autosomal dominant 9.8 ATL1 ERLIN2 SPG11
17 spastic paraplegia 48, autosomal recessive 9.8 AP5Z1 ERLIN2 SPG11
18 spastic paraplegia 35, autosomal recessive 9.8 AP5Z1 ERLIN2 SPG11
19 hereditary sensory neuropathy 9.8 ATL1 KIF1A
20 axonal neuropathy 9.7 KIF5A SPG11
21 spastic paraplegia 13, autosomal dominant 9.7 AP5Z1 ATL1 ERLIN2 WASHC5
22 charcot-marie-tooth disease, axonal, type 2k 9.7 KIF1A KIF5A
23 spastic paraplegia 10, autosomal dominant 9.6 AP5Z1 ATL1 KIF5A SPG11
24 spastic paraplegia 6, autosomal dominant 9.5 AP5Z1 ATL1 ERLIN2 KIF5A
25 spastic paraplegia 12, autosomal dominant 9.5 AP5Z1 ATL1 ERLIN2 KIF5A
26 spastic paraplegia 30, autosomal recessive 9.4 AP5Z1 ERLIN2 KIF1A WASHC5

Graphical network of the top 20 diseases related to Spastic Paraplegia 8, Autosomal Dominant:



Diseases related to Spastic Paraplegia 8, Autosomal Dominant

Symptoms & Phenotypes for Spastic Paraplegia 8, Autosomal Dominant

Human phenotypes related to Spastic Paraplegia 8, Autosomal Dominant:

60 33 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 babinski sign 60 33 hallmark (90%) Very frequent (99-80%) HP:0003487
2 difficulty walking 60 33 hallmark (90%) Very frequent (99-80%) HP:0002355
3 degeneration of the lateral corticospinal tracts 60 33 hallmark (90%) Very frequent (99-80%) HP:0002314
4 progressive spastic paraplegia 60 33 hallmark (90%) Very frequent (99-80%) HP:0007020
5 limb ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002070
6 lower limb muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0007340
7 impaired vibration sensation in the lower limbs 60 33 frequent (33%) Frequent (79-30%) HP:0002166
8 spinal cord lesion 60 33 frequent (33%) Frequent (79-30%) HP:0100561
9 urinary urgency 60 33 frequent (33%) Frequent (79-30%) HP:0000012
10 spastic gait 60 33 frequent (33%) Frequent (79-30%) HP:0002064
11 progressive pes cavus 60 33 frequent (33%) Frequent (79-30%) HP:0008075
12 urinary incontinence 60 33 frequent (33%) Frequent (79-30%) HP:0000020
13 peroneal muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0009049
14 limb dysmetria 60 33 frequent (33%) Frequent (79-30%) HP:0002406
15 muscle spasm 33 frequent (33%) HP:0003394
16 clonus 60 33 occasional (7.5%) Occasional (29-5%) HP:0002169
17 upper limb spasticity 60 33 occasional (7.5%) Occasional (29-5%) HP:0006986
18 hyperreflexia 60 33 Very frequent (99-80%) HP:0001347
19 lower limb spasticity 60 33 Very frequent (99-80%) HP:0002061
20 emg abnormality 60 Excluded (0%)
21 pes cavus 33 HP:0001761
22 urinary bladder sphincter dysfunction 33 HP:0002839
23 muscle cramps 60 Frequent (79-30%)
24 spastic paraplegia 33 HP:0001258
25 abnormality of the cerebrospinal fluid 60 Excluded (0%)
26 abnormal lower-limb motor evoked potentials 60 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hyperreflexia
lower limb spasticity
degeneration of the lateral corticospinal tracts
spastic gait
extensor plantar responses
more
Genitourinary Bladder:
urinary urgency
urinary incontinence
sphincter disturbances

Muscle Soft Tissue:
atrophy of shins

Skeletal Feet:
pes cavus

Neurologic Peripheral Nervous System:
decreased vibratory sense in the lower limbs

Clinical features from OMIM:

603563

UMLS symptoms related to Spastic Paraplegia 8, Autosomal Dominant:


urgency of micturition

Drugs & Therapeutics for Spastic Paraplegia 8, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 8, Autosomal Dominant

Genetic Tests for Spastic Paraplegia 8, Autosomal Dominant

Anatomical Context for Spastic Paraplegia 8, Autosomal Dominant

MalaCards organs/tissues related to Spastic Paraplegia 8, Autosomal Dominant:

42
Spinal Cord

Publications for Spastic Paraplegia 8, Autosomal Dominant

Articles related to Spastic Paraplegia 8, Autosomal Dominant:

# Title Authors Year
1
Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity. ( 10563637 )
1999

Variations for Spastic Paraplegia 8, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 8, Autosomal Dominant:

76
# Symbol AA change Variation ID SNP ID
1 WASHC5 p.Asn471Asp VAR_031955 rs80338865
2 WASHC5 p.Leu619Phe VAR_031956 rs80338866
3 WASHC5 p.Val626Phe VAR_031957 rs80338867
4 WASHC5 p.Ile226Thr VAR_069984 rs755285830
5 WASHC5 p.Gly696Ala VAR_069985 rs397515564
6 WASHC5 p.Val620Ala VAR_072417

ClinVar genetic disease variations for Spastic Paraplegia 8, Autosomal Dominant:

6 (show top 50) (show all 78)
# Gene Variation Type Significance SNP ID Assembly Location
1 WASHC5 NM_014846.3(WASHC5): c.3319G> A (p.Val1107Met) single nucleotide variant Benign/Likely benign rs138407503 GRCh37 Chromosome 8, 126044499: 126044499
2 WASHC5 NM_014846.3(WASHC5): c.3319G> A (p.Val1107Met) single nucleotide variant Benign/Likely benign rs138407503 GRCh38 Chromosome 8, 125032257: 125032257
3 WASHC5 NM_014846.3(WASHC5): c.867A> C (p.Val289=) single nucleotide variant Benign rs79464415 GRCh38 Chromosome 8, 125075109: 125075109
4 WASHC5 NM_014846.3(WASHC5): c.867A> C (p.Val289=) single nucleotide variant Benign rs79464415 GRCh37 Chromosome 8, 126087351: 126087351
5 WASHC5 NM_014846.3(WASHC5): c.1876G> T (p.Val626Phe) single nucleotide variant Pathogenic rs80338867 GRCh37 Chromosome 8, 126069059: 126069059
6 WASHC5 NM_014846.3(WASHC5): c.1876G> T (p.Val626Phe) single nucleotide variant Pathogenic rs80338867 GRCh38 Chromosome 8, 125056817: 125056817
7 WASHC5 NM_014846.3(WASHC5): c.1857G> C (p.Leu619Phe) single nucleotide variant Pathogenic rs80338866 GRCh37 Chromosome 8, 126069816: 126069816
8 WASHC5 NM_014846.3(WASHC5): c.1857G> C (p.Leu619Phe) single nucleotide variant Pathogenic rs80338866 GRCh38 Chromosome 8, 125057574: 125057574
9 WASHC5 NM_014846.3(WASHC5): c.1411A> G (p.Asn471Asp) single nucleotide variant Pathogenic rs80338865 GRCh37 Chromosome 8, 126073434: 126073434
10 WASHC5 NM_014846.3(WASHC5): c.1411A> G (p.Asn471Asp) single nucleotide variant Pathogenic rs80338865 GRCh38 Chromosome 8, 125061192: 125061192
11 WASHC5 NM_014846.3(WASHC5): c.1857G> T (p.Leu619Phe) single nucleotide variant Pathogenic rs80338866 GRCh37 Chromosome 8, 126069816: 126069816
12 WASHC5 NM_014846.3(WASHC5): c.1857G> T (p.Leu619Phe) single nucleotide variant Pathogenic rs80338866 GRCh38 Chromosome 8, 125057574: 125057574
13 WASHC5 NM_014846.3(WASHC5): c.2087G> C (p.Gly696Ala) single nucleotide variant Pathogenic rs397515564 GRCh37 Chromosome 8, 126067843: 126067843
14 WASHC5 NM_014846.3(WASHC5): c.2087G> C (p.Gly696Ala) single nucleotide variant Pathogenic rs397515564 GRCh38 Chromosome 8, 125055601: 125055601
15 WASHC5 NM_014846.3(WASHC5): c.3291G> A (p.Ala1097=) single nucleotide variant Benign rs11542889 GRCh37 Chromosome 8, 126044527: 126044527
16 WASHC5 NM_014846.3(WASHC5): c.3291G> A (p.Ala1097=) single nucleotide variant Benign rs11542889 GRCh38 Chromosome 8, 125032285: 125032285
17 WASHC5 NM_014846.3(WASHC5): c.597A> G (p.Pro199=) single nucleotide variant Benign rs7812319 GRCh37 Chromosome 8, 126091094: 126091094
18 WASHC5 NM_014846.3(WASHC5): c.597A> G (p.Pro199=) single nucleotide variant Benign rs7812319 GRCh38 Chromosome 8, 125078852: 125078852
19 WASHC5 NM_014846.3(WASHC5): c.1408+7A> G single nucleotide variant Benign/Likely benign rs16900312 GRCh37 Chromosome 8, 126075757: 126075757
20 WASHC5 NM_014846.3(WASHC5): c.1408+7A> G single nucleotide variant Benign/Likely benign rs16900312 GRCh38 Chromosome 8, 125063515: 125063515
21 WASHC5 NM_014846.3(WASHC5): c.1245A> G (p.Leu415=) single nucleotide variant Benign/Likely benign rs10429323 GRCh37 Chromosome 8, 126079867: 126079867
22 WASHC5 NM_014846.3(WASHC5): c.1245A> G (p.Leu415=) single nucleotide variant Benign/Likely benign rs10429323 GRCh38 Chromosome 8, 125067625: 125067625
23 WASHC5 NM_014846.3(WASHC5): c.3225A> G (p.Pro1075=) single nucleotide variant Benign/Likely benign rs34569226 GRCh37 Chromosome 8, 126044593: 126044593
24 WASHC5 NM_014846.3(WASHC5): c.3225A> G (p.Pro1075=) single nucleotide variant Benign/Likely benign rs34569226 GRCh38 Chromosome 8, 125032351: 125032351
25 WASHC5 NM_014846.3(WASHC5): c.1151-8G> A single nucleotide variant Benign/Likely benign rs16900335 GRCh37 Chromosome 8, 126079969: 126079969
26 WASHC5 NM_014846.3(WASHC5): c.1151-8G> A single nucleotide variant Benign/Likely benign rs16900335 GRCh38 Chromosome 8, 125067727: 125067727
27 WASHC5 NM_014846.3(WASHC5): c.187-3C> T single nucleotide variant Benign rs16900368 GRCh38 Chromosome 8, 125083261: 125083261
28 WASHC5 NM_014846.3(WASHC5): c.187-3C> T single nucleotide variant Benign rs16900368 GRCh37 Chromosome 8, 126095503: 126095503
29 WASHC5 NM_014846.3(WASHC5): c.2422A> G (p.Ile808Val) single nucleotide variant Uncertain significance rs144507279 GRCh37 Chromosome 8, 126059531: 126059531
30 WASHC5 NM_014846.3(WASHC5): c.2422A> G (p.Ile808Val) single nucleotide variant Uncertain significance rs144507279 GRCh38 Chromosome 8, 125047289: 125047289
31 WASHC5 NM_014846.3(WASHC5): c.647C> T (p.Pro216Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72720524 GRCh38 Chromosome 8, 125078802: 125078802
32 WASHC5 NM_014846.3(WASHC5): c.647C> T (p.Pro216Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72720524 GRCh37 Chromosome 8, 126091044: 126091044
33 WASHC5 NM_014846.3(WASHC5): c.2971A> G (p.Ile991Val) single nucleotide variant Uncertain significance rs1554591077 GRCh37 Chromosome 8, 126051185: 126051185
34 WASHC5 NM_014846.3(WASHC5): c.2971A> G (p.Ile991Val) single nucleotide variant Uncertain significance rs1554591077 GRCh38 Chromosome 8, 125038943: 125038943
35 WASHC5 NM_014846.3(WASHC5): c.3210G> A (p.Pro1070=) single nucleotide variant Likely benign rs200733182 GRCh38 Chromosome 8, 125032366: 125032366
36 WASHC5 NM_014846.3(WASHC5): c.3210G> A (p.Pro1070=) single nucleotide variant Likely benign rs200733182 GRCh37 Chromosome 8, 126044608: 126044608
37 WASHC5 NM_014846.3(WASHC5): c.1771T> C (p.Ser591Pro) single nucleotide variant Uncertain significance rs1554593901 GRCh37 Chromosome 8, 126069902: 126069902
38 WASHC5 NM_014846.3(WASHC5): c.1771T> C (p.Ser591Pro) single nucleotide variant Uncertain significance rs1554593901 GRCh38 Chromosome 8, 125057660: 125057660
39 WASHC5 NM_014846.3(WASHC5): c.1668C> T (p.Phe556=) single nucleotide variant Likely benign rs199725572 GRCh37 Chromosome 8, 126071638: 126071638
40 WASHC5 NM_014846.3(WASHC5): c.1668C> T (p.Phe556=) single nucleotide variant Likely benign rs199725572 GRCh38 Chromosome 8, 125059396: 125059396
41 WASHC5 NM_014846.3(WASHC5): c.2016+10C> G single nucleotide variant Likely benign rs1260941212 GRCh37 Chromosome 8, 126068909: 126068909
42 WASHC5 NM_014846.3(WASHC5): c.2016+10C> G single nucleotide variant Likely benign rs1260941212 GRCh38 Chromosome 8, 125056667: 125056667
43 WASHC5 NM_014846.3(WASHC5): c.885G> A (p.Gly295=) single nucleotide variant Likely benign rs1435894101 GRCh38 Chromosome 8, 125075091: 125075091
44 WASHC5 NM_014846.3(WASHC5): c.885G> A (p.Gly295=) single nucleotide variant Likely benign rs1435894101 GRCh37 Chromosome 8, 126087333: 126087333
45 WASHC5 NM_014846.3(WASHC5): c.1772C> T (p.Ser591Phe) single nucleotide variant Likely pathogenic rs1554593899 GRCh38 Chromosome 8, 125057659: 125057659
46 WASHC5 NM_014846.3(WASHC5): c.1772C> T (p.Ser591Phe) single nucleotide variant Likely pathogenic rs1554593899 GRCh37 Chromosome 8, 126069901: 126069901
47 WASHC5 NM_014846.3(WASHC5): c.2093_2095delTCA (p.Ile698del) deletion Uncertain significance rs1554593551 GRCh38 Chromosome 8, 125055593: 125055595
48 WASHC5 NM_014846.3(WASHC5): c.2093_2095delTCA (p.Ile698del) deletion Uncertain significance rs1554593551 GRCh37 Chromosome 8, 126067835: 126067837
49 WASHC5 NM_014846.3(WASHC5): c.1942G> A (p.Asp648Asn) single nucleotide variant Uncertain significance rs758919422 GRCh37 Chromosome 8, 126068993: 126068993
50 WASHC5 NM_014846.3(WASHC5): c.1942G> A (p.Asp648Asn) single nucleotide variant Uncertain significance rs758919422 GRCh38 Chromosome 8, 125056751: 125056751

Expression for Spastic Paraplegia 8, Autosomal Dominant

Search GEO for disease gene expression data for Spastic Paraplegia 8, Autosomal Dominant.

Pathways for Spastic Paraplegia 8, Autosomal Dominant

GO Terms for Spastic Paraplegia 8, Autosomal Dominant

Cellular components related to Spastic Paraplegia 8, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.91 ALDH18A1 AP5Z1 ATL1 KIF1A KIF5A SPG11
2 neuron projection GO:0043005 9.5 KIF1A KIF5A WASHC5
3 neuronal cell body GO:0043025 9.43 KIF1A KIF5A WASHC5
4 axon GO:0030424 9.33 ATL1 KIF1A SPG11
5 kinesin complex GO:0005871 8.96 KIF1A KIF5A
6 axon cytoplasm GO:1904115 8.62 KIF1A KIF5A

Biological processes related to Spastic Paraplegia 8, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule-based movement GO:0007018 9.26 KIF1A KIF5A
2 endosomal transport GO:0016197 9.16 AP5Z1 WASHC5
3 synaptic vesicle transport GO:0048489 8.96 KIF5A SPG11
4 retrograde neuronal dense core vesicle transport GO:1990049 8.62 KIF1A KIF5A

Molecular functions related to Spastic Paraplegia 8, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 motor activity GO:0003774 9.16 KIF1A KIF5A
2 microtubule motor activity GO:0003777 8.96 KIF1A KIF5A
3 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 8.62 KIF1A KIF5A

Sources for Spastic Paraplegia 8, Autosomal Dominant

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