SPG30
MCID: SPS237
MIFTS: 35

Spastic Paraplegia 30, Autosomal Dominant (SPG30)

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 30, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 30, Autosomal Dominant:

Name: Spastic Paraplegia 30, Autosomal Dominant 56
Spastic Paraplegia 30, Autosomal Recessive 56 73 29 13 6
Spg30 56 58 73
Paraplegia, Spastic, Type 30, Autosomal Recessive 39
Autosomal Spastic Paraplegia Type 30 58

Characteristics:

Orphanet epidemiological data:

58
autosomal spastic paraplegia type 30
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

56
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
progressive disorder
highly variable phenotype
onset in first or second decade


HPO:

31
spastic paraplegia 30, autosomal dominant:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 610357
OMIM Phenotypic Series 56 PS303350
MeSH 43 D015419
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 72 C1835896
Orphanet 58 ORPHA101010
MedGen 41 C1835896

Summaries for Spastic Paraplegia 30, Autosomal Dominant

OMIM : 56 Spastic paraplegia-30 (SPG30) is a neurologic disorder characterized by onset of slowly progressive spastic paraplegia in the first or second decades of life. Affected individuals have unsteady spastic gait and hyperreflexia of the lower limbs. Some patients have a 'pure' form of the disorder, limited to spastic paraplegia, whereas others may have a 'complicated' form that includes cognitive dysfunction, learning disabilities, or behavioral abnormalities, peripheral sensorimotor neuropathy, urinary sphincter problems, and/or cerebellar atrophy with thin corpus callosum on brain imaging. The phenotypic features represent a spectrum of abnormalities of the central, peripheral, and autonomic nervous system (summary by Pennings et al., 2020). For a general discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600). For a general discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). (610357)

MalaCards based summary : Spastic Paraplegia 30, Autosomal Dominant, also known as spastic paraplegia 30, autosomal recessive, is related to hereditary spastic paraplegia 30 and paraplegia. An important gene associated with Spastic Paraplegia 30, Autosomal Dominant is KIF1A (Kinesin Family Member 1A). Affiliated tissues include brain and eye, and related phenotypes are babinski sign and progressive spastic paraplegia

UniProtKB/Swiss-Prot : 73 Spastic paraplegia 30, autosomal recessive: 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. SPG30 is characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs.

Related Diseases for Spastic Paraplegia 30, 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 30, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 hereditary spastic paraplegia 30 11.6
2 paraplegia 10.4
3 hereditary spastic paraplegia 10.4
4 alacrima, achalasia, and mental retardation syndrome 10.2
5 microcephaly 10.2
6 autonomic neuropathy 10.2
7 spasticity 10.2
8 spastic ataxia, charlevoix-saguenay type 10.1
9 ataxia and polyneuropathy, adult-onset 10.1
10 neuropathy, hereditary sensory, type iic 10.1
11 hereditary sensory neuropathy 10.1
12 polyneuropathy 10.1
13 sensory peripheral neuropathy 10.1
14 peripheral nervous system disease 10.1
15 neuropathy 10.1
16 spastic paraparesis 10.1

Graphical network of the top 20 diseases related to Spastic Paraplegia 30, Autosomal Dominant:



Diseases related to Spastic Paraplegia 30, Autosomal Dominant

Symptoms & Phenotypes for Spastic Paraplegia 30, Autosomal Dominant

Human phenotypes related to Spastic Paraplegia 30, Autosomal Dominant:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 babinski sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0003487
2 progressive spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007020
3 unsteady gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0002317
4 leg muscle stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0008969
5 lower limb hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002395
6 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
7 distal amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003693
8 distal sensory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002936
9 sensorimotor neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007141
10 scissor gait 58 31 frequent (33%) Frequent (79-30%) HP:0012407
11 dysmetria 31 frequent (33%) HP:0001310
12 peripheral axonal neuropathy 31 frequent (33%) HP:0003477
13 lower limb muscle weakness 31 frequent (33%) HP:0007340
14 lower limb amyotrophy 31 frequent (33%) HP:0007210
15 abnormal saccadic eye movements 31 frequent (33%) HP:0000570
16 diffuse cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100275
17 lower limb spasticity 58 31 Very frequent (99-80%) HP:0002061
18 spastic gait 58 31 Very frequent (99-80%) HP:0002064
19 hyperreflexia 31 HP:0001347
20 spastic paraplegia 31 HP:0001258
21 cerebellar atrophy 31 HP:0001272
22 sensory impairment 58 Frequent (79-30%)
23 ankle clonus 31 HP:0011448
24 abnormality of saccadic eye movements 58 Frequent (79-30%)
25 urinary bladder sphincter dysfunction 31 HP:0002839

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
dysmetria
lower limb spasticity
spastic gait
ankle clonus
more
Neurologic Peripheral Nervous System:
axonal neuropathy
peripheral sensory loss, distal

Head And Neck Eyes:
saccadic ocular pursuit

Genitourinary Bladder:
sphincter disturbances

Neurologic Behavioral Psychiatric Manifestations:
behavioral abnormalities (in some patients)

Muscle Soft Tissue:
lower limb muscle atrophy due to peripheral neuropathy
lower limb muscle weakness due to peripheral neuropathy

Clinical features from OMIM:

610357

Drugs & Therapeutics for Spastic Paraplegia 30, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 30, Autosomal Dominant

Genetic Tests for Spastic Paraplegia 30, Autosomal Dominant

Genetic tests related to Spastic Paraplegia 30, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 30, Autosomal Recessive 29 KIF1A

Anatomical Context for Spastic Paraplegia 30, Autosomal Dominant

MalaCards organs/tissues related to Spastic Paraplegia 30, Autosomal Dominant:

40
Brain, Eye

Publications for Spastic Paraplegia 30, Autosomal Dominant

Articles related to Spastic Paraplegia 30, Autosomal Dominant:

(show all 11)
# Title Authors PMID Year
1
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia. 61 56 6
31488895 2020
2
Multigeneration family with dominant SPG30 hereditary spastic paraplegia. 6 56
29159194 2017
3
Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis. 6 56
26410750 2015
4
Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia. 6 56
25585697 2015
5
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations. 56 6
22258533 2012
6
Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. 6 56
21487076 2011
7
Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. 6 56
16434418 2006
8
KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement. 56
32096284 2020
9
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. 6
26125038 2015
10
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. 6
25265257 2015
11
Hereditary Spastic Paraplegia Overview 6
20301682 2000

Variations for Spastic Paraplegia 30, Autosomal Dominant

ClinVar genetic disease variations for Spastic Paraplegia 30, Autosomal Dominant:

6 (show top 50) (show all 565) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIF1A NM_004321.7(KIF1A):c.304G>A (p.Gly102Ser)SNV Pathogenic 422067 rs1064795534 2:241727527-241727527 2:240788110-240788110
2 KIF1A NM_004321.7(KIF1A):c.773C>T (p.Thr258Met)SNV Pathogenic 464261 rs1553638086 2:241723181-241723181 2:240783764-240783764
3 KIF1A NM_004321.7(KIF1A):c.3523C>T (p.Arg1175Ter)SNV Pathogenic 576241 rs368078424 2:241679550-241679550 2:240740133-240740133
4 KIF1A NM_004321.7(KIF1A):c.1927C>T (p.Gln643Ter)SNV Pathogenic 568993 rs748477031 2:241702504-241702504 2:240763087-240763087
5 KIF1A NM_004321.7(KIF1A):c.4678C>T (p.Gln1560Ter)SNV Pathogenic 664959 2:241659231-241659231 2:240719814-240719814
6 KIF1A NM_001320705.2(KIF1A):c.1894C>T (p.Gln632Ter)SNV Pathogenic 869124 2:241702638-241702638 2:240763221-240763221
7 KIF1A NM_001320705.2(KIF1A):c.4002C>G (p.Tyr1334Ter)SNV Pathogenic 869125 2:241663432-241663432 2:240724015-240724015
8 KIF1A NM_004321.7(KIF1A):c.1187dup (p.Asn396fs)duplication Pathogenic 807620 2:241710514-241710515 2:240771097-240771098
9 KIF1A NC_000002.12:g.(?_240717364)_(240797752_?)deldeletion Pathogenic 832086 2:241656781-241737169
10 KIF1A NC_000002.12:g.240797746deldeletion Pathogenic 850864 2:241737160-241737160 2:240797743-240797743
11 KIF1A NM_004321.7(KIF1A):c.764C>T (p.Ala255Val)SNV Pathogenic 30166 rs387906798 2:241723190-241723190 2:240783773-240783773
12 KIF1A NM_004321.7(KIF1A):c.296C>T (p.Thr99Met)SNV Pathogenic 30169 rs387906799 2:241727535-241727535 2:240788118-240788118
13 KIF1A NM_004321.7(KIF1A):c.1048C>G (p.Arg350Gly)SNV Pathogenic 37004 rs387907259 2:241712663-241712663 2:240773246-240773246
14 KIF1A NM_001320705.2(KIF1A):c.2582+1023deldeletion Pathogenic 65859 rs587778791 2:241696754-241696754 2:240757337-240757337
15 KIF1A NM_004321.7(KIF1A):c.946C>T (p.Arg316Trp)SNV Pathogenic 162060 rs672601370 2:241715280-241715280 2:240775863-240775863
16 KIF1A NM_004321.7(KIF1A):c.757G>A (p.Glu253Lys)SNV Pathogenic 162059 rs672601369 2:241723197-241723197 2:240783780-240783780
17 KIF1A NM_004321.7(KIF1A):c.173C>T (p.Ser58Leu)SNV Pathogenic 162052 rs672601362 2:241728663-241728663 2:240789246-240789246
18 KIF1A NM_004321.7(KIF1A):c.761G>A (p.Arg254Gln)SNV Pathogenic 280500 rs886041692 2:241723193-241723193 2:240783776-240783776
19 KIF1A NM_004321.7(KIF1A):c.821C>T (p.Ser274Leu)SNV Pathogenic/Likely pathogenic 211298 rs797045655 2:241722504-241722504 2:240783087-240783087
20 KIF1A NM_004321.7(KIF1A):c.206C>T (p.Ser69Leu)SNV Pathogenic/Likely pathogenic 188057 rs786200949 2:241727625-241727625 2:240788208-240788208
21 KIF1A NM_004321.7(KIF1A):c.38G>A (p.Arg13His)SNV Pathogenic/Likely pathogenic 209165 rs797045050 2:241737132-241737132 2:240797715-240797715
22 KIF1A NM_004321.7(KIF1A):c.760C>T (p.Arg254Trp)SNV Pathogenic/Likely pathogenic 245636 rs879253888 2:241723194-241723194 2:240783777-240783777
23 KIF1A NM_004321.7(KIF1A):c.2323C>T (p.Arg775Ter)SNV Pathogenic/Likely pathogenic 665003 2:241700176-241700176 2:240760759-240760759
24 KIF1A NM_004321.7(KIF1A):c.920G>A (p.Arg307Gln)SNV Pathogenic/Likely pathogenic 418275 rs1064793161 2:241715306-241715306 2:240775889-240775889
25 KIF1A NM_004321.7(KIF1A):c.1394+2T>ASNV Likely pathogenic 532873 rs751051049 2:241709042-241709042 2:240769625-240769625
26 KIF1A NM_004321.7(KIF1A):c.4565+1G>CSNV Likely pathogenic 532856 rs1553624714 2:241660330-241660330 2:240720913-240720913
27 KIF1A NM_004321.7(KIF1A):c.2089+1G>CSNV Likely pathogenic 532854 rs1553633687 2:241702135-241702135 2:240762718-240762718
28 KIF1A NM_004321.7(KIF1A):c.4016-2A>GSNV Likely pathogenic 574244 rs1559477798 2:241662977-241662977 2:240723560-240723560
29 KIF1A NM_004321.7(KIF1A):c.799G>C (p.Glu267Gln)SNV Likely pathogenic 645308 2:241722526-241722526 2:240783109-240783109
30 KIF1A NM_004321.7(KIF1A):c.749C>A (p.Ala250Asp)SNV Likely pathogenic 580199 rs1559526692 2:241723205-241723205 2:240783788-240783788
31 KIF1A NM_004321.7(KIF1A):c.609-1G>ASNV Likely pathogenic 574529 rs1559527796 2:241724518-241724518 2:240785101-240785101
32 KIF1A NM_004321.7(KIF1A):c.802G>A (p.Gly268Arg)SNV Likely pathogenic 801918 2:241722523-241722523 2:240783106-240783106
33 KIF1A NM_004321.7(KIF1A):c.470T>C (p.Leu157Pro)SNV Likely pathogenic 801919 2:241725890-241725890 2:240786473-240786473
34 KIF1A NM_004321.7(KIF1A):c.233G>A (p.Gly78Asp)SNV Likely pathogenic 801920 2:241727598-241727598 2:240788181-240788181
35 KIF1A NM_004321.7(KIF1A):c.32G>A (p.Arg11Gln)SNV Likely pathogenic 654820 2:241737138-241737138 2:240797721-240797721
36 KIF1A NC_000002.12:g.240797649G>TSNV Likely pathogenic 864523 2:241737066-241737066 2:240797649-240797649
37 KIF1A NM_004321.7(KIF1A):c.4740G>A (p.Gly1580=)SNV Conflicting interpretations of pathogenicity 211294 rs143815273 2:241658594-241658594 2:240719177-240719177
38 KIF1A NM_004321.7(KIF1A):c.223C>T (p.Arg75Trp)SNV Conflicting interpretations of pathogenicity 191158 rs778224699 2:241727608-241727608 2:240788191-240788191
39 KIF1A NM_004321.7(KIF1A):c.2956C>T (p.Pro986Ser)SNV Conflicting interpretations of pathogenicity 196129 rs143037290 2:241685270-241685270 2:240745853-240745853
40 KIF1A NM_004321.7(KIF1A):c.3365C>T (p.Thr1122Met)SNV Conflicting interpretations of pathogenicity 208649 rs374873057 2:241680767-241680767 2:240741350-240741350
41 KIF1A NM_004321.7(KIF1A):c.3165C>T (p.Ile1055=)SNV Conflicting interpretations of pathogenicity 211285 rs201981364 2:241683475-241683475 2:240744058-240744058
42 KIF1A NM_004321.7(KIF1A):c.3042C>G (p.Ala1014=)SNV Conflicting interpretations of pathogenicity 211284 rs370286749 2:241685184-241685184 2:240745767-240745767
43 KIF1A NM_004321.7(KIF1A):c.2943C>T (p.Ala981=)SNV Conflicting interpretations of pathogenicity 211283 rs368682964 2:241685283-241685283 2:240745866-240745866
44 KIF1A NM_004321.7(KIF1A):c.2655G>C (p.Val885=)SNV Conflicting interpretations of pathogenicity 211281 rs186881889 2:241689865-241689865 2:240750448-240750448
45 KIF1A NM_004321.7(KIF1A):c.2595C>G (p.Pro865=)SNV Conflicting interpretations of pathogenicity 211280 rs140783695 2:241689925-241689925 2:240750508-240750508
46 KIF1A NM_004321.7(KIF1A):c.2505C>T (p.Thr835=)SNV Conflicting interpretations of pathogenicity 211279 rs370648599 2:241697827-241697827 2:240758410-240758410
47 KIF1A NM_004321.7(KIF1A):c.2448C>T (p.Tyr816=)SNV Conflicting interpretations of pathogenicity 211278 rs199996308 2:241697884-241697884 2:240758467-240758467
48 KIF1A NM_004321.7(KIF1A):c.2676C>T (p.Ala892=)SNV Conflicting interpretations of pathogenicity 129388 rs116297894 2:241686737-241686737 2:240747320-240747320
49 KIF1A NM_004321.7(KIF1A):c.849C>T (p.Ser283=)SNV Conflicting interpretations of pathogenicity 211299 rs187442951 2:241722476-241722476 2:240783059-240783059
50 KIF1A NM_004321.7(KIF1A):c.2899+10C>ASNV Conflicting interpretations of pathogenicity 129397 rs190997558 2:241685446-241685446 2:240746029-240746029

Expression for Spastic Paraplegia 30, Autosomal Dominant

Search GEO for disease gene expression data for Spastic Paraplegia 30, Autosomal Dominant.

Pathways for Spastic Paraplegia 30, Autosomal Dominant

GO Terms for Spastic Paraplegia 30, Autosomal Dominant

Sources for Spastic Paraplegia 30, Autosomal Dominant

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