SPG30
MCID: SPS098
MIFTS: 35

Spastic Paraplegia 30, Autosomal Recessive (SPG30)

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 30, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 30, Autosomal Recessive:

Name: Spastic Paraplegia 30, Autosomal Recessive 57 75 29 13 6 73
Spg30 57 12 59 75
Autosomal Spastic Paraplegia Type 30 12 59
Hereditary Spastic Paraplegia 30 12 15
Paraplegia, Spastic, Type 30, Autosomal Recessive 40
Autosomal Recessive Spastic Paraplegia 30 12

Characteristics:

Orphanet epidemiological data:

59
autosomal spastic paraplegia type 30
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in first or second decade
slow progression
three families have been reported (last curated august 2012)


HPO:

32
spastic paraplegia 30, autosomal recessive:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 610357
Disease Ontology 12 DOID:0110781
ICD10 33 G11.4
Orphanet 59 ORPHA101010
UMLS via Orphanet 74 C1835896
ICD10 via Orphanet 34 G11.4
MedGen 42 C1835896
MeSH 44 D015419
UMLS 73 C1835896

Summaries for Spastic Paraplegia 30, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Spastic Paraplegia 30, Autosomal Recessive, also known as spg30, is related to paraplegia and hereditary spastic paraplegia. An important gene associated with Spastic Paraplegia 30, Autosomal Recessive is KIF1A (Kinesin Family Member 1A). Affiliated tissues include eye, skin and bone, and related phenotypes are ataxia and babinski sign

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the KIF1A gene on chromosome 2q37.

OMIM : 57 SPG30 is an autosomal recessive form of slowly progressive spastic paraplegia characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs. Mildly impaired sensation and cerebellar involvement has been reported in 1 putatively affected family (summary by Erlich et al., 2011). (610357)

Related Diseases for Spastic Paraplegia 30, Autosomal Recessive

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 30, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 paraplegia 29.3 AP5Z1 ERLIN2 KIF1A REEP1 SPG21 WASHC5
2 hereditary spastic paraplegia 29.0 AP5Z1 ERLIN2 KIF1A REEP1 SPG21 WASHC5
3 sensory peripheral neuropathy 10.0
4 neuropathy 10.0
5 spastic paraplegia 33, autosomal dominant 10.0 AP5Z1 REEP1
6 spastic paraplegia 44, autosomal recessive 10.0 AP5Z1 SPG21
7 spastic paraplegia 31, autosomal dominant 10.0 AP5Z1 REEP1
8 spastic paraplegia 15, autosomal recessive 10.0 AP5Z1 SPG21
9 spastic paraplegia 2, x-linked 10.0 AP5Z1 REEP1
10 spastic paraplegia 10, autosomal dominant 10.0 AP5Z1 REEP1
11 masa syndrome 9.9 AP5Z1 REEP1
12 spastic paraplegia 4, autosomal dominant 9.8 ERLIN2 REEP1
13 spastic paraplegia 48, autosomal recessive 9.8 AP5Z1 ERLIN2 SPG21
14 spastic paraplegia 6, autosomal dominant 9.8 AP5Z1 ERLIN2 REEP1
15 spastic paraplegia 12, autosomal dominant 9.8 AP5Z1 ERLIN2 REEP1
16 spastic paraplegia 35, autosomal recessive 9.8 AP5Z1 ERLIN2 SPG21
17 spasticity 9.7 KIF1A WASHC5
18 spastic paraplegia 13, autosomal dominant 9.7 AP5Z1 ERLIN2 WASHC5
19 spastic paraplegia 47, autosomal recessive 9.5 AP5Z1 ERLIN2 REEP1 WASHC5
20 spastic paraplegia 39, autosomal recessive 9.5 AP5Z1 ERLIN2 REEP1 WASHC5
21 spastic paraplegia 42, autosomal dominant 9.5 AP5Z1 ERLIN2 REEP1 WASHC5
22 spastic paraplegia 8, autosomal dominant 9.5 AP5Z1 ERLIN2 REEP1 WASHC5
23 spastic paraplegia 18, autosomal recessive 9.3 AP5Z1 ERLIN2 REEP1 SPG21 WASHC5

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



Diseases related to Spastic Paraplegia 30, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 30, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
lower limb spasticity
ankle clonus
spastic gait
extensor plantar responses
more
Genitourinary Bladder:
sphincter disturbances, mild (in 1 of 3 families)

Neurologic Peripheral Nervous System:
peripheral sensory loss, distal, mild (in 2 of 3 families)
axonal neuropathy (in 2 of 3 families)

Head And Neck Eyes:
saccadic ocular pursuit (in 1 of 3 families)

Muscle Soft Tissue:
lower limb muscle atrophy (in 2 of 3 families)
lower limb muscle weakness (in 2 of 3 families)


Clinical features from OMIM:

610357

Human phenotypes related to Spastic Paraplegia 30, Autosomal Recessive:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
2 babinski sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003487
3 sensorimotor neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0007141
4 lower limb spasticity 59 32 Very frequent (99-80%) HP:0002061
5 progressive spastic paraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007020
6 spastic gait 59 32 Very frequent (99-80%) HP:0002064
7 leg muscle stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0008969
8 unsteady gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0002317
9 distal amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003693
10 distal sensory impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002936
11 lower limb hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002395
12 diffuse cerebellar atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100275
13 scissor gait 59 32 frequent (33%) Frequent (79-30%) HP:0012407
14 hyperreflexia 32 HP:0001347
15 abnormality of saccadic eye movements 59 Frequent (79-30%)
16 dysmetria 32 frequent (33%) HP:0001310
17 urinary bladder sphincter dysfunction 32 HP:0002839
18 spastic paraplegia 32 HP:0001258
19 cerebellar atrophy 32 HP:0001272
20 lower limb muscle weakness 32 frequent (33%) HP:0007340
21 ankle clonus 32 HP:0011448
22 peripheral axonal neuropathy 32 frequent (33%) HP:0003477
23 sensory impairment 59 Frequent (79-30%)
24 lower limb amyotrophy 32 frequent (33%) HP:0007210
25 abnormal saccadic eye movements 32 frequent (33%) HP:0000570

Drugs & Therapeutics for Spastic Paraplegia 30, Autosomal Recessive

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

Genetic Tests for Spastic Paraplegia 30, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 30, Autosomal Recessive:

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

Anatomical Context for Spastic Paraplegia 30, Autosomal Recessive

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

41
Eye, Skin, Bone

Publications for Spastic Paraplegia 30, Autosomal Recessive

Variations for Spastic Paraplegia 30, Autosomal Recessive

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

6 (show top 50) (show all 496)
# Gene Variation Type Significance SNP ID Assembly Location
1 KIF1A NM_001244008.1(KIF1A): c.764C> T (p.Ala255Val) single nucleotide variant Pathogenic rs387906798 GRCh37 Chromosome 2, 241723190: 241723190
2 KIF1A NM_001244008.1(KIF1A): c.764C> T (p.Ala255Val) single nucleotide variant Pathogenic rs387906798 GRCh38 Chromosome 2, 240783773: 240783773
3 KIF1A NM_001244008.1(KIF1A): c.296C> T (p.Thr99Met) single nucleotide variant Pathogenic rs387906799 GRCh37 Chromosome 2, 241727535: 241727535
4 KIF1A NM_001244008.1(KIF1A): c.296C> T (p.Thr99Met) single nucleotide variant Pathogenic rs387906799 GRCh38 Chromosome 2, 240788118: 240788118
5 KIF1A NM_001244008.1(KIF1A): c.1048C> G (p.Arg350Gly) single nucleotide variant Pathogenic rs387907259 GRCh37 Chromosome 2, 241712663: 241712663
6 KIF1A NM_001244008.1(KIF1A): c.1048C> G (p.Arg350Gly) single nucleotide variant Pathogenic rs387907259 GRCh38 Chromosome 2, 240773246: 240773246
7 KIF1A NM_001244008.1(KIF1A): c.2840delT (p.Leu947Argfs) deletion Pathogenic rs587778791 GRCh37 Chromosome 2, 241696754: 241696754
8 KIF1A NM_001244008.1(KIF1A): c.2840delT (p.Leu947Argfs) deletion Pathogenic rs587778791 GRCh38 Chromosome 2, 240757337: 240757337
9 KIF1A NM_004321.7(KIF1A): c.1476A> G (p.Pro492=) single nucleotide variant Benign/Likely benign rs35663732 GRCh37 Chromosome 2, 241706757: 241706757
10 KIF1A NM_004321.7(KIF1A): c.1476A> G (p.Pro492=) single nucleotide variant Benign/Likely benign rs35663732 GRCh38 Chromosome 2, 240767340: 240767340
11 KIF1A NM_004321.7(KIF1A): c.2208C> T (p.Ala736=) single nucleotide variant Benign/Likely benign rs35945835 GRCh37 Chromosome 2, 241700676: 241700676
12 KIF1A NM_004321.7(KIF1A): c.2208C> T (p.Ala736=) single nucleotide variant Benign/Likely benign rs35945835 GRCh38 Chromosome 2, 240761259: 240761259
13 KIF1A NM_004321.7(KIF1A): c.234C> T (p.Gly78=) single nucleotide variant Benign/Likely benign rs61744930 GRCh37 Chromosome 2, 241727597: 241727597
14 KIF1A NM_004321.7(KIF1A): c.234C> T (p.Gly78=) single nucleotide variant Benign/Likely benign rs61744930 GRCh38 Chromosome 2, 240788180: 240788180
15 KIF1A NM_004321.7(KIF1A): c.2358C> T (p.Ala786=) single nucleotide variant Benign/Likely benign rs62637652 GRCh37 Chromosome 2, 241700141: 241700141
16 KIF1A NM_004321.7(KIF1A): c.2358C> T (p.Ala786=) single nucleotide variant Benign/Likely benign rs62637652 GRCh38 Chromosome 2, 240760724: 240760724
17 KIF1A NM_004321.7(KIF1A): c.2676C> T (p.Ala892=) single nucleotide variant Benign/Likely benign rs116297894 GRCh37 Chromosome 2, 241686737: 241686737
18 KIF1A NM_004321.7(KIF1A): c.2676C> T (p.Ala892=) single nucleotide variant Benign/Likely benign rs116297894 GRCh38 Chromosome 2, 240747320: 240747320
19 KIF1A NM_004321.7(KIF1A): c.2979C> T (p.His993=) single nucleotide variant Benign/Likely benign rs35664935 GRCh37 Chromosome 2, 241685247: 241685247
20 KIF1A NM_004321.7(KIF1A): c.2979C> T (p.His993=) single nucleotide variant Benign/Likely benign rs35664935 GRCh38 Chromosome 2, 240745830: 240745830
21 KIF1A NM_004321.7(KIF1A): c.393C> T (p.Asn131=) single nucleotide variant Benign/Likely benign rs35139906 GRCh37 Chromosome 2, 241726704: 241726704
22 KIF1A NM_004321.7(KIF1A): c.393C> T (p.Asn131=) single nucleotide variant Benign/Likely benign rs35139906 GRCh38 Chromosome 2, 240787287: 240787287
23 KIF1A NM_004321.7(KIF1A): c.3840G> A (p.Pro1280=) single nucleotide variant Benign/Likely benign rs2241683 GRCh37 Chromosome 2, 241664801: 241664801
24 KIF1A NM_004321.7(KIF1A): c.3840G> A (p.Pro1280=) single nucleotide variant Benign/Likely benign rs2241683 GRCh38 Chromosome 2, 240725384: 240725384
25 KIF1A NM_004321.7(KIF1A): c.4016-8C> T single nucleotide variant Benign/Likely benign rs1529663 GRCh37 Chromosome 2, 241662983: 241662983
26 KIF1A NM_004321.7(KIF1A): c.4016-8C> T single nucleotide variant Benign/Likely benign rs1529663 GRCh38 Chromosome 2, 240723566: 240723566
27 KIF1A NM_004321.7(KIF1A): c.4509C> A (p.Thr1503=) single nucleotide variant Benign/Likely benign rs76974316 GRCh37 Chromosome 2, 241660387: 241660387
28 KIF1A NM_004321.7(KIF1A): c.4509C> A (p.Thr1503=) single nucleotide variant Benign/Likely benign rs76974316 GRCh38 Chromosome 2, 240720970: 240720970
29 KIF1A NM_004321.7(KIF1A): c.2899+10C> A single nucleotide variant Conflicting interpretations of pathogenicity rs190997558 GRCh37 Chromosome 2, 241685446: 241685446
30 KIF1A NM_004321.7(KIF1A): c.2899+10C> A single nucleotide variant Conflicting interpretations of pathogenicity rs190997558 GRCh38 Chromosome 2, 240746029: 240746029
31 KIF1A NM_004321.7(KIF1A): c.4446C> T (p.Ser1482=) single nucleotide variant Benign/Likely benign rs371737085 GRCh37 Chromosome 2, 241660450: 241660450
32 KIF1A NM_004321.7(KIF1A): c.4446C> T (p.Ser1482=) single nucleotide variant Benign/Likely benign rs371737085 GRCh38 Chromosome 2, 240721033: 240721033
33 KIF1A NM_001244008.1(KIF1A): c.206C> T (p.Ser69Leu) single nucleotide variant Pathogenic rs786200949 GRCh37 Chromosome 2, 241727625: 241727625
34 KIF1A NM_001244008.1(KIF1A): c.206C> T (p.Ser69Leu) single nucleotide variant Pathogenic rs786200949 GRCh38 Chromosome 2, 240788208: 240788208
35 KIF1A NM_004321.7(KIF1A): c.223C> T (p.Arg75Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs778224699 GRCh37 Chromosome 2, 241727608: 241727608
36 KIF1A NM_004321.7(KIF1A): c.223C> T (p.Arg75Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs778224699 GRCh38 Chromosome 2, 240788191: 240788191
37 KIF1A NM_004321.7(KIF1A): c.2956C> T (p.Pro986Ser) single nucleotide variant Benign/Likely benign rs143037290 GRCh37 Chromosome 2, 241685270: 241685270
38 KIF1A NM_004321.7(KIF1A): c.2956C> T (p.Pro986Ser) single nucleotide variant Benign/Likely benign rs143037290 GRCh38 Chromosome 2, 240745853: 240745853
39 KIF1A NM_004321.7(KIF1A): c.3365C> T (p.Thr1122Met) single nucleotide variant Conflicting interpretations of pathogenicity rs374873057 GRCh37 Chromosome 2, 241680767: 241680767
40 KIF1A NM_004321.7(KIF1A): c.3365C> T (p.Thr1122Met) single nucleotide variant Conflicting interpretations of pathogenicity rs374873057 GRCh38 Chromosome 2, 240741350: 240741350
41 KIF1A NM_004321.7(KIF1A): c.38G> A (p.Arg13His) single nucleotide variant Pathogenic/Likely pathogenic rs797045050 GRCh37 Chromosome 2, 241737132: 241737132
42 KIF1A NM_004321.7(KIF1A): c.38G> A (p.Arg13His) single nucleotide variant Pathogenic/Likely pathogenic rs797045050 GRCh38 Chromosome 2, 240797715: 240797715
43 KIF1A NM_004321.7(KIF1A): c.4624G> A (p.Asp1542Asn) single nucleotide variant Uncertain significance rs200141437 GRCh38 Chromosome 2, 240719868: 240719868
44 KIF1A NM_004321.7(KIF1A): c.4624G> A (p.Asp1542Asn) single nucleotide variant Uncertain significance rs200141437 GRCh37 Chromosome 2, 241659285: 241659285
45 KIF1A NM_004321.7(KIF1A): c.4301C> T (p.Ala1434Val) single nucleotide variant Conflicting interpretations of pathogenicity rs141441058 GRCh38 Chromosome 2, 240722517: 240722517
46 KIF1A NM_004321.7(KIF1A): c.4301C> T (p.Ala1434Val) single nucleotide variant Conflicting interpretations of pathogenicity rs141441058 GRCh37 Chromosome 2, 241661934: 241661934
47 KIF1A NM_004321.7(KIF1A): c.3165C> T (p.Ile1055=) single nucleotide variant Conflicting interpretations of pathogenicity rs201981364 GRCh38 Chromosome 2, 240744058: 240744058
48 KIF1A NM_004321.7(KIF1A): c.3165C> T (p.Ile1055=) single nucleotide variant Conflicting interpretations of pathogenicity rs201981364 GRCh37 Chromosome 2, 241683475: 241683475
49 KIF1A NM_004321.7(KIF1A): c.3042C> G (p.Ala1014=) single nucleotide variant Conflicting interpretations of pathogenicity rs370286749 GRCh38 Chromosome 2, 240745767: 240745767
50 KIF1A NM_004321.7(KIF1A): c.3042C> G (p.Ala1014=) single nucleotide variant Conflicting interpretations of pathogenicity rs370286749 GRCh37 Chromosome 2, 241685184: 241685184

Expression for Spastic Paraplegia 30, Autosomal Recessive

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

Pathways for Spastic Paraplegia 30, Autosomal Recessive

GO Terms for Spastic Paraplegia 30, Autosomal Recessive

Biological processes related to Spastic Paraplegia 30, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosomal transport GO:0016197 8.62 AP5Z1 WASHC5

Sources for Spastic Paraplegia 30, Autosomal Recessive

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
Content
Loading form....