SPG18
MCID: SPS107
MIFTS: 43

Spastic Paraplegia 18, Autosomal Recessive (SPG18)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory 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 57 72 13 70
Hereditary Spastic Paraplegia 18 12 29 6 15
Spg18 57 12 58 72
Idmdc 57 12 72
Autosomal Recessive Spastic Paraplegia Type 18 12 58
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 72
Autosomal Recessive Spastic Paraplegia 18 12

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic paraplegia type 18
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM®:

57 (Updated 20-May-2021)
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:

31
spastic paraplegia 18, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spastic Paraplegia 18, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 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 hereditary spastic paraplegia 18, is related to spasticity and hereditary spastic paraplegia. An important gene associated with Spastic Paraplegia 18, Autosomal Recessive is ERLIN2 (ER Lipid Raft Associated 2), and among its related pathways/superpathways is Endocytosis. Affiliated tissues include eye, skeletal muscle and brain, and related phenotypes are intellectual disability and global developmental delay

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) (Updated 20-May-2021)

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, 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
Spastic Paraplegia 83, 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, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 spasticity 29.8 WASHC5 SPG7 DDHD1
2 hereditary spastic paraplegia 26.6 ZFYVE26 WASHC5 SPG7 SPG21 SPG11 REEP1
3 paraplegia 26.6 ZFYVE26 WASHC5 SPG7 SPG21 SPG11 REEP1
4 spastic paraplegia 18 11.4
5 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome 11.4
6 spastic paraplegia 27, autosomal recessive 10.2 SPG21 ERLIN1
7 spastic paraplegia 62, autosomal recessive 10.2 ERLIN2 ERLIN1
8 charcot-marie-tooth disease, axonal, type 2r 10.1 ZFYVE26 SPG21
9 spastic paraplegia 7, autosomal recessive 10.1 SPG7 SPG11
10 mast syndrome 10.1 SPG21 SPG11
11 spastic ataxia 2 10.1 REEP1 ERLIN1
12 charcot-marie-tooth disease, axonal, type 2t 10.1 ZFYVE26 SPG21
13 spastic paraplegia 14, autosomal recessive 10.1 SPG7 SPG21 SPG11
14 spastic paraplegia 45, autosomal recessive 10.1 SPG21 SPG11 ERLIN1
15 spastic paraplegia 63, autosomal recessive 10.1 SPG7 SPG21 SPG11
16 spastic paraplegia 64, autosomal recessive 10.0 ZFYVE26 SPG21 SPG11
17 spastic paraplegia 53, autosomal recessive 10.0 WASHC5 AP5Z1
18 spastic paraplegia 43, autosomal recessive 10.0 SPG11 FA2H ERLIN2
19 spinocerebellar ataxia, autosomal recessive 24 10.0 SPG7 FA2H
20 spinocerebellar ataxia, autosomal recessive 20 10.0 ZFYVE26 SPG11
21 amyotrophic lateral sclerosis type 5 10.0 ZFYVE26 SPG11 AP5Z1
22 spastic paraplegia, optic atrophy, and neuropathy 10.0 WASHC5 AP5Z1
23 spastic paraplegia 44, autosomal recessive 10.0 SPG21 SPG11 ERLIN2 AP5Z1
24 spastic paraplegia 41, autosomal dominant 9.9 SPG21 KIF5A
25 spastic paraplegia 29, autosomal dominant 9.9 ZFYVE26 WASHC5 SPG21
26 spastic paraplegia 19, autosomal dominant 9.9 ZFYVE26 WASHC5 SPG21
27 parkinson disease 15, autosomal recessive early-onset 9.9 SPG11 FA2H
28 nescav syndrome 9.9 ZFYVE26 REEP1 AP5Z1
29 spastic paraplegia 52, autosomal recessive 9.9 ZFYVE26 SPG21 SPG11 AP5Z1
30 juvenile amyotrophic lateral sclerosis 9.9 SPG11 ERLIN1
31 neurodegeneration with brain iron accumulation 9.9 SPG11 FA2H DDHD1
32 spastic paraplegia 16, x-linked 9.8 WASHC5 SPG7 SPG21 SPG11
33 spastic paraplegia 32, autosomal recessive 9.8 WASHC5 SPG7 SPG21 SPG11
34 spastic paraplegia 26, autosomal recessive 9.8 SPG21 SPG11 REEP1 FA2H
35 hereditary spastic paraplegia 23 9.8 ZFYVE26 WASHC5 SPG21 SPG11
36 hereditary spastic paraplegia 51 9.7 ZFYVE26 SPG7 SPG21 SPG11 AP5Z1
37 spastic paraplegia 50, autosomal recessive 9.7 ZFYVE26 SPG7 SPG21 SPG11 AP5Z1
38 spastic paraparesis 9.7 SPG7 SPG11 FA2H DDHD1
39 spastic paraplegia 11, autosomal recessive 9.7 ZFYVE26 SPG7 SPG21 SPG11 AP5Z1
40 spastic paraplegia 37, autosomal dominant 9.7 ZFYVE26 SPG21 REEP1 ERLIN2 ERLIN1
41 spastic paraplegia 25, autosomal recessive 9.7 ZFYVE26 WASHC5 SPG21 REEP1
42 spastic paraplegia 20, autosomal recessive 9.7 ZFYVE26 SPG7 SPG21 NIPA1
43 axonal neuropathy 9.7 ZFYVE26 SPG11 KIF5A
44 spastic paraplegia 34, x-linked 9.7 ZFYVE26 WASHC5 SPG21 REEP1
45 complex hereditary spastic paraplegia 9.7 SPG7 SPG11 NIPA1 FA2H
46 neuropathy, hereditary sensory, type iic 9.7 SPG21 SPG11 REEP1 FA2H ERLIN2
47 spastic paraplegia 73, autosomal dominant 9.7 SPG21 REEP1 FA2H DDHD1
48 spastic paraplegia 61, autosomal recessive 9.7 ZFYVE26 SPG21 SPG11 REEP1 AP5Z1
49 pure hereditary spastic paraplegia 9.6 NIPA1 KIF5A ERLIN2
50 spastic paraplegia 49, autosomal recessive 9.6 ZFYVE26 SPG7 SPG21 SPG11 DDHD1

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:

58 31 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 occasional (7.5%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 elbow flexion contracture 58 31 hallmark (90%) Very frequent (99-80%) HP:0002987
4 ankle flexion contracture 58 31 hallmark (90%) Very frequent (99-80%) HP:0006466
5 knee flexion contracture 58 31 hallmark (90%) Very frequent (99-80%) HP:0006380
6 distal muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0002460
7 inability to walk 58 31 hallmark (90%) Very frequent (99-80%) HP:0002540
8 hyperreflexia in upper limbs 58 31 hallmark (90%) Very frequent (99-80%) HP:0007350
9 bilateral wrist flexion contracture 58 31 hallmark (90%) Very frequent (99-80%) HP:0012453
10 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
11 macroglossia 58 31 frequent (33%) Frequent (79-30%) HP:0000158
12 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
13 wide mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000154
14 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
15 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Frequent (79-30%) HP:0002079
16 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
17 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
18 thick eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0000574
19 spinal rigidity 58 31 occasional (7.5%) Occasional (29-5%) HP:0003306
20 short philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000322
21 hip contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0003273
22 flexion contracture of toe 58 31 occasional (7.5%) Occasional (29-5%) HP:0005830
23 synophrys 58 31 occasional (7.5%) Occasional (29-5%) HP:0000664
24 abnormality of the pinna 58 31 occasional (7.5%) Occasional (29-5%) HP:0000377
25 ankle clonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0011448
26 horizontal nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000666
27 hand tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002378
28 impaired vibration sensation in the lower limbs 58 31 occasional (7.5%) Occasional (29-5%) HP:0002166
29 rotary nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001583
30 restricted neck movement due to contractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0005997
31 seizure 31 occasional (7.5%) HP:0001250
32 abnormal lumbar spine morphology 31 occasional (7.5%) HP:0100712
33 hyperreflexia 58 31 Very frequent (99-80%) HP:0001347
34 seizures 58 Occasional (29-5%)
35 scoliosis 31 HP:0002650
36 gait disturbance 31 HP:0001288
37 kyphosis 31 HP:0002808
38 flexion contracture 58 Very frequent (99-80%)
39 skeletal muscle atrophy 31 HP:0003202
40 strabismus 31 HP:0000486
41 pes cavus 31 HP:0001761
42 spastic paraplegia 31 HP:0001258
43 abnormality of the lumbar spine 58 Occasional (29-5%)
44 lower limb muscle weakness 31 HP:0007340
45 upper limb spasticity 31 HP:0006986
46 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hyperreflexia
lower limb spasticity
abnormal gait
extensor plantar responses
seizures (in some patients)
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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Spastic Paraplegia 18, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 AP5Z1 ERLIN1 FA2H KIF5A REEP1 SPG11
2 nervous system MP:0003631 9.28 AP5Z1 FA2H KIF5A REEP1 SPG11 SPG21

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

Genetic tests related to Spastic Paraplegia 18, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Hereditary Spastic Paraplegia 18 29 ERLIN2

Anatomical Context for Spastic Paraplegia 18, Autosomal Recessive

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

40
Eye, Skeletal Muscle, Brain

Publications for Spastic Paraplegia 18, Autosomal Recessive

Articles related to Spastic Paraplegia 18, Autosomal Recessive:

(show all 12)
# Title Authors PMID Year
1
Loss of ERLIN2 function leads to juvenile primary lateral sclerosis. 57 6
23109145 2012
2
A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures. 6 57
21330303 2011
3
A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18). 57 61
21796390 2011
4
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. 57
23176823 2012
5
A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy. 57
16636240 2006
6
An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18). 61
32094424 2020
7
Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS. 61
32042907 2019
8
A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia. 61
29528531 2018
9
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 61
23897027 2013
10
A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family. 61
23085305 2013
11
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 61
22554690 2012
12
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, Autosomal Recessive

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ERLIN2 NM_007175.8(ERLIN2):c.812_813insAC (p.Asn272fs) Insertion Pathogenic 30913 rs587776893 GRCh37: 8:37611039-37611040
GRCh38: 8:37753521-37753522
2 ERLIN2 NM_007175.8(ERLIN2):c.499-1G>T SNV Pathogenic 92113 rs398123002 GRCh37: 8:37607311-37607311
GRCh38: 8:37749793-37749793
3 ERLIN2 NM_007175.8(ERLIN2):c.237-1G>A SNV Pathogenic 374613 rs1057519172 GRCh37: 8:37601872-37601872
GRCh38: 8:37744354-37744354
4 ERLIN2 NM_007175.8(ERLIN2):c.356A>G (p.Lys119Arg) SNV Likely pathogenic 1032526 GRCh37: 8:37602146-37602146
GRCh38: 8:37744628-37744628
5 ERLIN2 NM_007175.8(ERLIN2):c.557_557+10delinsCCTGGCTGTGACCTGGGCTGTGA Indel Likely pathogenic 435090 rs1554517382 GRCh37: 8:37607370-37607380
GRCh38: 8:37749852-37749862

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

Pathways related to Spastic Paraplegia 18, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.2 WASHC5 SPG21 KIF5A

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 lipid metabolic process GO:0006629 9.62 FA2H ERLIN2 ERLIN1 DDHD1
2 lysosome organization GO:0007040 9.37 WASHC5 SPG11
3 synaptic vesicle transport GO:0048489 9.26 SPG11 KIF5A
4 negative regulation of fatty acid biosynthetic process GO:0045717 9.16 ERLIN2 ERLIN1
5 negative regulation of cholesterol biosynthetic process GO:0045541 8.96 ERLIN2 ERLIN1
6 SREBP signaling pathway GO:0032933 8.62 ERLIN2 ERLIN1

Molecular functions related to Spastic Paraplegia 18, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.44 ZFYVE26 WASHC5 SPG7 SPG21 SPG11 REEP1
2 cholesterol binding GO:0015485 8.96 ERLIN2 ERLIN1

Sources for Spastic Paraplegia 18, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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