SPG30
MCID: HRD220
MIFTS: 27

Hereditary Spastic Paraplegia 30 (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 Hereditary Spastic Paraplegia 30

MalaCards integrated aliases for Hereditary Spastic Paraplegia 30:

Name: Hereditary Spastic Paraplegia 30 12 15
Autosomal Recessive Spastic Paraplegia 30 12
Autosomal Spastic Paraplegia Type 30 12
Spg30 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110781
ICD10 32 G11.4

Summaries for Hereditary Spastic Paraplegia 30

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

MalaCards based summary : Hereditary Spastic Paraplegia 30, also known as autosomal recessive spastic paraplegia 30, is related to spasticity and spastic paraparesis. An important gene associated with Hereditary Spastic Paraplegia 30 is KIF1A (Kinesin Family Member 1A), and among its related pathways/superpathways are Endocytosis and Factors involved in megakaryocyte development and platelet production. Related phenotypes are behavior/neurological and nervous system

Related Diseases for Hereditary Spastic Paraplegia 30

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 Hereditary Spastic Paraplegia 30 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 spasticity 29.7 WASHC5 SPAST REEP1 KIF1A
2 spastic paraparesis 29.1 SPG11 SPAST KIF1A FA2H
3 neuropathy, hereditary sensory, type iic 27.9 SPG21 SPG11 REEP1 KIF1A FA2H ERLIN2
4 paraplegia 26.0 WASHC5 SPG21 SPG11 SPAST REEP1 KIF5A
5 hereditary spastic paraplegia 25.7 WASHC5 SPG21 SPG11 SPAST REEP1 KIF5A
6 spastic paraplegia 30, autosomal dominant 12.3
7 spastic paraplegia 24, autosomal recessive 10.3 SPG21 KIF1C
8 spastic paraplegia 36, autosomal dominant 10.3 SPG21 KIF1C
9 charcot-marie-tooth disease, axonal, type 2k 10.3 KIF5A KIF1A
10 alacrima, achalasia, and mental retardation syndrome 10.2
11 microcephaly 10.2
12 autonomic neuropathy 10.2
13 spastic paraplegia 41, autosomal dominant 10.2 SPG21 SPAST
14 neuropathy, hereditary sensory, type id 10.2 KIF5A ATL1
15 goldberg-shprintzen syndrome 10.1 KIF1C KIF1A
16 spastic ataxia 2 10.1 REEP1 KIF1C KIF1A
17 spastic paraplegia 64, autosomal recessive 10.1 SPG21 SPG11
18 spastic paraplegia 76, autosomal recessive 10.1 SPG11 KIF1C
19 spastic paraplegia 27, autosomal recessive 10.1 SPG21 REEP1 KIF1C
20 spastic ataxia, charlevoix-saguenay type 10.1
21 ataxia and polyneuropathy, adult-onset 10.1
22 hereditary sensory neuropathy 10.1
23 polyneuropathy 10.1
24 sensory peripheral neuropathy 10.1
25 peripheral nervous system disease 10.1
26 neuropathy 10.1
27 spastic paraplegia 49, autosomal recessive 10.1 SPG21 SPG11
28 spastic paraplegia 45, autosomal recessive 10.1 SPG21 SPG11
29 spastic paraplegia 63, autosomal recessive 10.1 SPG21 SPG11
30 spastic paraplegia 55, autosomal recessive 10.1 SPG21 SPG11
31 spastic paraplegia 29, autosomal dominant 10.1 WASHC5 SPG21
32 spastic paraplegia 25, autosomal recessive 10.0 WASHC5 SPG21
33 spastic paraplegia 19, autosomal dominant 10.0 WASHC5 SPG21
34 spastic paraplegia 34, x-linked 10.0 WASHC5 SPG21
35 mast syndrome 10.0 SPG21 SPG11
36 peho syndrome 10.0 KIF1C KIF1A
37 amyotrophic lateral sclerosis type 5 9.9 SPG11 AP5Z1
38 spastic paraplegia 5a, autosomal recessive 9.9 SPG11 SPAST KIF5A
39 spastic paraplegia, optic atrophy, and neuropathy 9.9 WASHC5 AP5Z1
40 pure hereditary spastic paraplegia 9.7 SPAST KIF5A ERLIN2 ATL1
41 motor peripheral neuropathy 9.7 SPG11 REEP1 KIF5A KIF1A
42 neurodegeneration with brain iron accumulation 4 9.7 FA2H ERLIN2
43 autosomal dominant distal hereditary motor neuronopathy 9.7 REEP1 ATL1
44 spastic paraplegia 37, autosomal dominant 9.6 WASHC5 SPG21 REEP1 ERLIN2
45 spastic paraplegia 14, autosomal recessive 9.6 SPG21 SPG11 SPAST ATL1
46 neurodegeneration with brain iron accumulation 5 9.6 SPG11 FA2H
47 spastic paraplegia 20, autosomal recessive 9.6 SPG21 SPG11 SPAST ATL1
48 spastic paraplegia 44, autosomal recessive 9.6 SPG21 SPG11 ERLIN2 AP5Z1
49 parkinson disease 15, autosomal recessive early-onset 9.6 SPG11 FA2H
50 spastic paraplegia 11, autosomal recessive 9.5 SPG21 SPG11 SPAST AP5Z1

Graphical network of the top 20 diseases related to Hereditary Spastic Paraplegia 30:



Diseases related to Hereditary Spastic Paraplegia 30

Symptoms & Phenotypes for Hereditary Spastic Paraplegia 30

MGI Mouse Phenotypes related to Hereditary Spastic Paraplegia 30:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.61 AP4B1 ATL1 FA2H KIF1A KIF5A REEP1
2 nervous system MP:0003631 9.23 AP4B1 FA2H KIF1A KIF5A REEP1 SPAST

Drugs & Therapeutics for Hereditary Spastic Paraplegia 30

Search Clinical Trials , NIH Clinical Center for Hereditary Spastic Paraplegia 30

Genetic Tests for Hereditary Spastic Paraplegia 30

Anatomical Context for Hereditary Spastic Paraplegia 30

Publications for Hereditary Spastic Paraplegia 30

Articles related to Hereditary Spastic Paraplegia 30:

(show all 12)
# Title Authors PMID Year
1
Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report. 61
31796088 2019
2
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes. 61
30778698 2019
3
Going Too Far Is the Same as Falling Short†: Kinesin-3 Family Members in Hereditary Spastic Paraplegia. 61
31616253 2019
4
Multigeneration family with dominant SPG30 hereditary spastic paraplegia. 61
29159194 2017
5
Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene. 61
28970574 2017
6
Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene. 61
28332297 2017
7
Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis. 61
26410750 2015
8
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 61
23897027 2013
9
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 61
22554690 2012
10
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations. 61
22258533 2012
11
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families. 61
17661097 2007
12
Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. 61
16434418 2006

Variations for Hereditary Spastic Paraplegia 30

Expression for Hereditary Spastic Paraplegia 30

Search GEO for disease gene expression data for Hereditary Spastic Paraplegia 30.

Pathways for Hereditary Spastic Paraplegia 30

Pathways related to Hereditary Spastic Paraplegia 30 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.53 WASHC5 SPG21 KIF5A
2 11 KIF5A KIF1C KIF1A

GO Terms for Hereditary Spastic Paraplegia 30

Cellular components related to Hereditary Spastic Paraplegia 30 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.16 WASHC5 SPG21 SPG11 SPAST REEP1 KIF5A
2 endoplasmic reticulum membrane GO:0005789 9.83 SPAST REEP1 FA2H ERLIN2 ATL1
3 neuron projection GO:0043005 9.71 WASHC5 KIF5A KIF1C KIF1A
4 endoplasmic reticulum GO:0005783 9.7 WASHC5 SPAST REEP1 KIF1C FA2H ERLIN2
5 axon GO:0030424 9.67 SPG11 KIF1C KIF1A ATL1
6 microtubule GO:0005874 9.56 SPAST KIF5A KIF1C KIF1A
7 endoplasmic reticulum tubular network GO:0071782 9.32 REEP1 ATL1
8 kinesin complex GO:0005871 9.13 KIF5A KIF1C KIF1A
9 axon cytoplasm GO:1904115 8.92 SPAST KIF5A KIF1C KIF1A

Biological processes related to Hereditary Spastic Paraplegia 30 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vesicle-mediated transport GO:0016192 9.62 KIF5A KIF1C KIF1A AP4B1
2 lysosome organization GO:0007040 9.43 WASHC5 SPG11
3 microtubule-based movement GO:0007018 9.43 KIF5A KIF1C KIF1A
4 anterograde axonal transport GO:0008089 9.4 SPAST KIF1A
5 synaptic vesicle transport GO:0048489 9.37 SPG11 KIF5A
6 anterograde neuronal dense core vesicle transport GO:1990048 9.16 KIF1C KIF1A
7 cytoskeleton-dependent intracellular transport GO:0030705 9.13 KIF5A KIF1C KIF1A
8 retrograde neuronal dense core vesicle transport GO:1990049 8.8 KIF5A KIF1C KIF1A

Molecular functions related to Hereditary Spastic Paraplegia 30 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 motor activity GO:0003774 9.5 KIF5A KIF1C KIF1A
2 ATPase activity GO:0016887 9.46 SPAST KIF5A KIF1C KIF1A
3 microtubule motor activity GO:0003777 9.43 KIF5A KIF1C KIF1A
4 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 9.13 KIF5A KIF1C KIF1A
5 microtubule binding GO:0008017 9.02 SPAST REEP1 KIF5A KIF1C KIF1A

Sources for Hereditary Spastic Paraplegia 30

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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