IDMDC
MCID: SPS028
MIFTS: 17

Spastic Paraplegia 18 (IDMDC)

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 18

MalaCards integrated aliases for Spastic Paraplegia 18:

Name: Spastic Paraplegia 18 52 29 6
Intellectual Disability, Motor Dysfunction, and Joint Contractures 52
Spastic Paraplegia 18, Autosomal Recessive 71
Paraplegia, Spastic, Type 18 39
Spg18 52
Idmdc 52

Classifications:



External Ids:

UMLS 71 C2749936

Summaries for Spastic Paraplegia 18

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 209951 Definition Autosomal 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, 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 18 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 18, autosomal recessive 12.8
2 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome 11.4
3 hereditary spastic paraplegia 10.4
4 paraplegia 10.4
5 spasticity 10.4

Graphical network of the top 20 diseases related to Spastic Paraplegia 18:



Diseases related to Spastic Paraplegia 18

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:

40
Brain

Publications for Spastic Paraplegia 18

Articles related to Spastic Paraplegia 18:

# Title Authors PMID Year
1
An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18). 61
32094424 2020
2
Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS. 61
32042907 2019
3
A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia. 61
29528531 2018
4
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 61
23897027 2013
5
An extremely rare case: osteosclerotic metaphyseal dysplasia. 61
23610867 2013
6
A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family. 61
23085305 2013
7
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 61
22554690 2012
8
A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18). 61
21796390 2011
9
A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum. 61
20593214 2010

Variations for Spastic Paraplegia 18

ClinVar genetic disease variations for Spastic Paraplegia 18:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ERLIN2 NM_007175.8(ERLIN2):c.812_813insAC (p.Asn272fs)insertion Pathogenic 30913 rs587776893 8:37611039-37611040 8:37753521-37753522
2 ERLIN2 NM_007175.8(ERLIN2):c.499-1G>TSNV Pathogenic 92113 rs398123002 8:37607311-37607311 8:37749793-37749793
3 ERLIN2 NM_007175.8(ERLIN2):c.557_557+10delinsCCTGGCTGTGACCTGGGCTGTGAindel Likely pathogenic 435090 rs1554517382 8:37607370-37607380 8:37749852-37749862

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 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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