MCID: SPS028
MIFTS: 17

Spastic Paraplegia 18

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic diseases

Aliases & Classifications for Spastic Paraplegia 18

MalaCards integrated aliases for Spastic Paraplegia 18:

Name: Spastic Paraplegia 18 53 29 6
Intellectual Disability, Motor Dysfunction, and Joint Contractures 53
Spastic Paraplegia 18, Autosomal Recessive 73
Paraplegia, Spastic, Type 18 40
Spg18 53
Idmdc 53

Classifications:



External Ids:

UMLS 73 C2749936

Summaries for Spastic Paraplegia 18

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 209951Disease definitionAutosomal recessive spastic paraplegia type 18 (SPG18) is a rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spastic Paraplegia 18, also known as intellectual disability, motor dysfunction, and joint contractures, is related to spastic paraplegia 18, autosomal recessive and recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome. An important gene associated with Spastic Paraplegia 18 is ERLIN2 (ER Lipid Raft Associated 2). Affiliated tissues include brain.

Related Diseases for Spastic Paraplegia 18

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
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

Diseases related to Spastic Paraplegia 18 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 18, autosomal recessive 12.5
2 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome 11.1

Symptoms & Phenotypes for Spastic Paraplegia 18

Drugs & Therapeutics for Spastic Paraplegia 18

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 18

Genetic Tests for Spastic Paraplegia 18

Genetic tests related to Spastic Paraplegia 18:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 18 29 ERLIN2

Anatomical Context for Spastic Paraplegia 18

MalaCards organs/tissues related to Spastic Paraplegia 18:

41
Brain

Publications for Spastic Paraplegia 18

Variations for Spastic Paraplegia 18

ClinVar genetic disease variations for Spastic Paraplegia 18:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ERLIN2 NM_007175.6(ERLIN2): c.812_813insAC (p.Asn272Profs) insertion Pathogenic rs587776893 GRCh37 Chromosome 8, 37611040: 37611041
2 ERLIN2 NM_007175.6(ERLIN2): c.812_813insAC (p.Asn272Profs) insertion Pathogenic rs587776893 GRCh38 Chromosome 8, 37753522: 37753523
3 ERLIN2 NM_007175.6(ERLIN2): c.499-1G> T single nucleotide variant Pathogenic rs398123002 GRCh37 Chromosome 8, 37607311: 37607311
4 ERLIN2 NM_007175.6(ERLIN2): c.499-1G> T single nucleotide variant Pathogenic rs398123002 GRCh38 Chromosome 8, 37749793: 37749793
5 ERLIN2 NM_007175.6(ERLIN2) indel Likely pathogenic GRCh38 Chromosome 8, 37749852: 37749862
6 ERLIN2 NM_007175.6(ERLIN2) indel Likely pathogenic GRCh37 Chromosome 8, 37607370: 37607380

Expression for Spastic Paraplegia 18

Search GEO for disease gene expression data for Spastic Paraplegia 18.

Pathways for Spastic Paraplegia 18

GO Terms for Spastic Paraplegia 18

Sources for Spastic Paraplegia 18

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
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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
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