SPG18
MCID: SPS107
MIFTS: 36

Spastic Paraplegia 18, Autosomal Recessive (SPG18)

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 18, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 18, Autosomal Recessive:

Name: Spastic Paraplegia 18, Autosomal Recessive 58 76 13 74
Spg18 58 12 60 76
Idmdc 58 12 76
Autosomal Recessive Spastic Paraplegia Type 18 12 60
Hereditary Spastic Paraplegia 18 12 15
Intellectual Disability, Motor Dysfunction, and Joint Contractures; Idmdc 58
Intellectual Disability, Motor Dysfunction, and Joint Contractures 58
Intellectual Disability, Motor Dysfunction and Joint Contractures 12
Intellectual Disability Motor Dysfunction and Joint Contractures 76
Autosomal Recessive Spastic Paraplegia 18 12

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive spastic paraplegia type 18
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in infancy or childhood (range 1 to 6 years)
regression in infancy (in some patients)
results in severe motor disability and loss of independent ambulation


HPO:

33
spastic paraplegia 18, autosomal recessive:
Onset and clinical course slow progression progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Spastic Paraplegia 18, Autosomal Recessive

UniProtKB/Swiss-Prot : 76 Spastic paraplegia 18, 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. SPG18 is a severe form with onset in early childhood. Most affected individuals have severe psychomotor retardation. Some may develop significant joint contractures.

MalaCards based summary : Spastic Paraplegia 18, Autosomal Recessive, also known as spg18, is related to paraplegia and hereditary spastic paraplegia. An important gene associated with Spastic Paraplegia 18, Autosomal Recessive is ERLIN2 (ER Lipid Raft Associated 2). Affiliated tissues include eye, tongue and skeletal muscle, and related phenotypes are intellectual disability and spasticity

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the ERLIN2 gene on chromosome 8p11.

OMIM : 58 Spastic paraplegia-18 is a severe autosomal recessive neurologic disorder characterized by onset in early childhood of progressive spastic paraplegia resulting in motor disability. Most affected individuals have severe psychomotor retardation. Some may develop significant joint contractures (summary by Alazami et al., 2011 and Yildirim et al., 2011). (611225)

Related Diseases for Spastic Paraplegia 18, 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 47
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 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, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 paraplegia 28.2 AP5Z1 ERLIN2 NIPA1 REEP1 SPG21 WASHC5
2 hereditary spastic paraplegia 28.2 AP5Z1 ERLIN2 NIPA1 REEP1 SPG21 WASHC5
3 spastic paraplegia 18 11.4
4 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome 11.4
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 9.9 AP5Z1 REEP1
8 spastic paraplegia 15, autosomal recessive 9.9 AP5Z1 SPG21
9 spastic paraplegia 2, x-linked 9.9 AP5Z1 REEP1
10 spastic paraplegia 10, autosomal dominant 9.8 AP5Z1 REEP1
11 spastic paraplegia 48, autosomal recessive 9.8 AP5Z1 ERLIN2 SPG21
12 spastic paraplegia 12, autosomal dominant 9.8 AP5Z1 ERLIN2 REEP1
13 spastic paraplegia 35, autosomal recessive 9.8 AP5Z1 ERLIN2 SPG21
14 spastic paraplegia 13, autosomal dominant 9.7 AP5Z1 ERLIN2 WASHC5
15 spastic paraplegia 4, autosomal dominant 9.5 ERLIN2 NIPA1 REEP1
16 masa syndrome 9.5 AP5Z1 NIPA1 REEP1
17 spastic paraplegia 3, autosomal dominant 9.5 NIPA1 REEP1
18 spastic paraplegia 47, autosomal recessive 9.5 AP5Z1 ERLIN2 REEP1 WASHC5
19 spastic paraplegia 39, autosomal recessive 9.5 AP5Z1 ERLIN2 REEP1 WASHC5
20 spastic paraplegia 6, autosomal dominant 9.3 AP5Z1 ERLIN2 NIPA1 REEP1
21 spastic paraplegia 30, autosomal recessive 9.2 AP5Z1 ERLIN2 REEP1 SPG21 WASHC5
22 spastic paraplegia 42, autosomal dominant 9.0 AP5Z1 ERLIN2 NIPA1 REEP1 WASHC5
23 spastic paraplegia 8, autosomal dominant 9.0 AP5Z1 ERLIN2 NIPA1 REEP1 WASHC5

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



Diseases related to Spastic Paraplegia 18, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 18, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 18, Autosomal Recessive:

60 33 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 occasional (7.5%) Frequent (79-30%) HP:0001249
2 spasticity 60 33 frequent (33%) Frequent (79-30%) HP:0001257
3 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
4 kyphosis 60 33 frequent (33%) Frequent (79-30%) HP:0002808
5 babinski sign 60 33 frequent (33%) Frequent (79-30%) HP:0003487
6 elbow flexion contracture 60 33 frequent (33%) Frequent (79-30%) HP:0002987
7 toe walking 60 33 frequent (33%) Frequent (79-30%) HP:0040083
8 cough 60 33 frequent (33%) Frequent (79-30%) HP:0012735
9 difficulty walking 60 33 frequent (33%) Frequent (79-30%) HP:0002355
10 wrist flexion contracture 60 33 frequent (33%) Frequent (79-30%) HP:0001239
11 hip contracture 60 33 frequent (33%) Frequent (79-30%) HP:0003273
12 flexion contracture of toe 60 33 frequent (33%) Frequent (79-30%) HP:0005830
13 ankle contracture 60 33 frequent (33%) Frequent (79-30%) HP:0006466
14 delayed gross motor development 60 33 frequent (33%) Frequent (79-30%) HP:0002194
15 knee flexion contracture 60 33 frequent (33%) Frequent (79-30%) HP:0006380
16 flexion contracture of finger 60 33 frequent (33%) Frequent (79-30%) HP:0012785
17 language impairment 60 33 frequent (33%) Frequent (79-30%) HP:0002463
18 abnormality of jaw muscles 60 33 frequent (33%) Frequent (79-30%) HP:0045037
19 limb hypertonia 60 33 frequent (33%) Frequent (79-30%) HP:0002509
20 parietal hypometabolism in fdg pet 60 33 frequent (33%) Frequent (79-30%) HP:0012662
21 glabellar reflex 60 33 frequent (33%) Frequent (79-30%) HP:0030904
22 high palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000218
23 abnormality of eye movement 60 33 occasional (7.5%) Occasional (29-5%) HP:0000496
24 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
25 aphasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002381
26 difficulty in tongue movements 60 33 occasional (7.5%) Occasional (29-5%) HP:0000183
27 pseudobulbar paralysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0007024
28 narrow maxilla 60 33 occasional (7.5%) Occasional (29-5%) HP:0002010
29 hypoplasia of the corpus callosum 33 occasional (7.5%) HP:0002079
30 gait disturbance 33 HP:0001288
31 hyperreflexia 33 HP:0001347
32 neurological speech impairment 60 Frequent (79-30%)
33 hypertonia 60 Frequent (79-30%)
34 flexion contracture 60 Frequent (79-30%)
35 skeletal muscle atrophy 33 HP:0003202
36 strabismus 33 HP:0000486
37 absent speech 33 HP:0001344
38 pes cavus 33 HP:0001761
39 motor delay 60 Frequent (79-30%)
40 spastic paraplegia 33 HP:0001258
41 lower limb muscle weakness 33 HP:0007340
42 upper motor neuron dysfunction 60 Frequent (79-30%)
43 upper limb spasticity 33 HP:0006986
44 delayed ability to walk 33 HP:0031936

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hyperreflexia
lower limb spasticity
extensor plantar responses
seizures (in some patients)
abnormal gait
more
Skeletal Feet:
pes cavus

Head And Neck Mouth:
high-arched palate

Skeletal:
contractures, progressive, severe

Skeletal Spine:
scoliosis
kyphosis

Muscle Soft Tissue:
lower limb muscle weakness
muscle atrophy
increased muscle tone
global muscle weakness

Head And Neck Eyes:
squint
abnormal smooth pursuit

Clinical features from OMIM:

611225

Drugs & Therapeutics for Spastic Paraplegia 18, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 18, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 18, Autosomal Recessive

Anatomical Context for Spastic Paraplegia 18, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 18, Autosomal Recessive:

42
Eye, Tongue, Skeletal Muscle

Publications for Spastic Paraplegia 18, Autosomal Recessive

Variations for Spastic Paraplegia 18, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 18, Autosomal Recessive:

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 rs1554517382 GRCh38 Chromosome 8, 37749852: 37749862
6 ERLIN2 NM_007175.6(ERLIN2) indel Likely pathogenic rs1554517382 GRCh37 Chromosome 8, 37607370: 37607380

Expression for Spastic Paraplegia 18, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 18, Autosomal Recessive.

Pathways for Spastic Paraplegia 18, Autosomal Recessive

GO Terms for Spastic Paraplegia 18, Autosomal Recessive

Biological processes related to Spastic Paraplegia 18, 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 18, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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