MCID: SPS107
MIFTS: 36

Spastic Paraplegia 18, Autosomal Recessive

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

Aliases & Classifications for Spastic Paraplegia 18, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 18, Autosomal Recessive:

Name: Spastic Paraplegia 18, Autosomal Recessive 57 75 13 73
Spg18 57 12 59 75
Idmdc 57 12 75
Autosomal Recessive Spastic Paraplegia Type 18 12 59
Hereditary Spastic Paraplegia 18 12 15
Intellectual Disability, Motor Dysfunction, and Joint Contractures; Idmdc 57
Intellectual Disability, Motor Dysfunction, and Joint Contractures 57
Intellectual Disability, Motor Dysfunction and Joint Contractures 12
Intellectual Disability Motor Dysfunction and Joint Contractures 75
Autosomal Recessive Spastic Paraplegia 18 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic paraplegia type 18
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

57
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:

32
spastic paraplegia 18, autosomal recessive:
Onset and clinical course slow progression progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spastic Paraplegia 18, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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 spastic paraplegia 18 and recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome. 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 high palate and abnormality of eye movement

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

OMIM : 57 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 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, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 18 11.2
2 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome 11.2
3 spastic paraplegia 15, autosomal recessive 9.9 AP5Z1 SPG21
4 spastic paraplegia 44, autosomal recessive 9.6 AP5Z1 ERLIN2 SPG21
5 spastic paraplegia 48, autosomal recessive 9.6 AP5Z1 ERLIN2 SPG21
6 spastic paraplegia 33, autosomal dominant 9.6 AP5Z1 REEP1
7 spastic paraplegia 31, autosomal dominant 9.6 AP5Z1 REEP1
8 spastic paraplegia 35, autosomal recessive 9.5 AP5Z1 ERLIN2 SPG21
9 spastic paraplegia 13, autosomal dominant 9.5 AP5Z1 ERLIN2 WASHC5
10 spastic paraplegia 10, autosomal dominant 9.4 AP5Z1 REEP1
11 masa syndrome 9.3 AP5Z1 REEP1
12 spastic paraplegia 2, x-linked 9.2 AP5Z1 ERLIN2 REEP1
13 spastic paraplegia 12, autosomal dominant 9.2 AP5Z1 ERLIN2 REEP1
14 spastic paraplegia 4, autosomal dominant 9.1 ERLIN2 NIPA1 REEP1
15 spastic paraplegia 3, autosomal dominant 9.0 NIPA1 REEP1
16 spastic paraplegia 6, autosomal dominant 8.7 AP5Z1 ERLIN2 NIPA1 REEP1
17 spastic paraplegia 47, autosomal recessive 8.6 AP5Z1 ERLIN2 REEP1 WASHC5
18 spastic paraplegia 39, autosomal recessive 8.6 AP5Z1 ERLIN2 REEP1 WASHC5
19 spastic paraplegia 30, autosomal recessive 8.0 AP5Z1 ERLIN2 REEP1 SPG21 WASHC5
20 spastic paraplegia 42, autosomal dominant 8.0 AP5Z1 ERLIN2 NIPA1 REEP1 WASHC5
21 spastic paraplegia 8, autosomal dominant 8.0 AP5Z1 ERLIN2 NIPA1 REEP1 WASHC5
22 paraplegia 7.3 AP5Z1 ERLIN2 NIPA1 REEP1 SPG21 WASHC5
23 hereditary spastic paraplegia 7.3 AP5Z1 ERLIN2 NIPA1 REEP1 SPG21 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spastic Paraplegia 18, Autosomal Recessive:

59 32 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
2 abnormality of eye movement 59 32 occasional (7.5%) Occasional (29-5%) HP:0000496
3 intellectual disability 59 32 occasional (7.5%) Frequent (79-30%) HP:0001249
4 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
5 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
6 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
7 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
8 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
9 aphasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002381
10 cough 59 32 frequent (33%) Frequent (79-30%) HP:0012735
11 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
12 wrist flexion contracture 59 32 frequent (33%) Frequent (79-30%) HP:0001239
13 hip contracture 59 32 frequent (33%) Frequent (79-30%) HP:0003273
14 flexion contracture of toe 59 32 frequent (33%) Frequent (79-30%) HP:0005830
15 delayed gross motor development 59 32 frequent (33%) Frequent (79-30%) HP:0002194
16 language impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002463
17 knee flexion contracture 59 32 frequent (33%) Frequent (79-30%) HP:0006380
18 difficulty in tongue movements 59 32 occasional (7.5%) Occasional (29-5%) HP:0000183
19 toe walking 59 32 frequent (33%) Frequent (79-30%) HP:0040083
20 abnormality of jaw muscles 59 32 frequent (33%) Frequent (79-30%) HP:0045037
21 limb hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0002509
22 pseudobulbar paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0007024
23 elbow flexion contracture 59 32 frequent (33%) Frequent (79-30%) HP:0002987
24 flexion contracture of finger 59 32 frequent (33%) Frequent (79-30%) HP:0012785
25 ankle contracture 59 32 frequent (33%) Frequent (79-30%) HP:0006466
26 parietal hypometabolism in fdg pet 59 32 frequent (33%) Frequent (79-30%) HP:0012662
27 glabellar reflex 59 32 frequent (33%) Frequent (79-30%) HP:0030904
28 narrow maxilla 59 32 occasional (7.5%) Occasional (29-5%) HP:0002010
29 gait disturbance 32 HP:0001288
30 hyperreflexia 32 HP:0001347
31 neurological speech impairment 59 Frequent (79-30%)
32 hypertonia 59 Frequent (79-30%)
33 flexion contracture 59 Frequent (79-30%)
34 skeletal muscle atrophy 32 HP:0003202
35 strabismus 32 HP:0000486
36 absent speech 32 HP:0001344
37 pes cavus 32 HP:0001761
38 spastic paraplegia 32 HP:0001258
39 motor delay 59 Frequent (79-30%)
40 hypoplasia of the corpus callosum 32 occasional (7.5%) HP:0002079
41 lower limb muscle weakness 32 HP:0007340
42 upper motor neuron dysfunction 59 Frequent (79-30%)
43 upper limb spasticity 32 HP:0006986

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:

41
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 GRCh38 Chromosome 8, 37749852: 37749862
6 ERLIN2 NM_007175.6(ERLIN2) indel Likely pathogenic 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 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
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