SPG62
MCID: SPS227
MIFTS: 28

Spastic Paraplegia 62, Autosomal Recessive (SPG62)

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 62, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 62, Autosomal Recessive:

Name: Spastic Paraplegia 62, Autosomal Recessive 56 73 29 6
Spg62 56 12 58 73
Autosomal Recessive Spastic Paraplegia Type 62 12 58
Spastic Paraplegia 62 56 29
Autosomal Recessive Spastic Paraplegia 62 12
Hereditary Spastic Paraplegia 62 12
Paraplegia, Spastic, Type 62 39

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic paraplegia type 62
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
age at onset, 20 months to 13 years


HPO:

31
spastic paraplegia 62, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spastic Paraplegia 62, Autosomal Recessive

UniProtKB/Swiss-Prot : 73 Spastic paraplegia 62, 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.

MalaCards based summary : Spastic Paraplegia 62, Autosomal Recessive, is also known as spg62. An important gene associated with Spastic Paraplegia 62, Autosomal Recessive is ERLIN1 (ER Lipid Raft Associated 1). Affiliated tissues include cerebellum, skeletal muscle and eye, and related phenotypes are lower limb spasticity and dysarthria

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the ERLIN1 gene on chromosome 10q24.

More information from OMIM: 615681 PS303350

Related Diseases for Spastic Paraplegia 62, 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 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 Spastic Paraplegia 80, Autosomal Dominant
Hereditary Spastic Paraplegia 23 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

Symptoms & Phenotypes for Spastic Paraplegia 62, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 62, Autosomal Recessive:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lower limb spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002061
2 dysarthria 58 31 very rare (1%) Frequent (79-30%) HP:0001260
3 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
4 tip-toe gait 58 31 frequent (33%) Frequent (79-30%) HP:0030051
5 clonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002169
6 skeletal muscle atrophy 58 31 very rare (1%) Occasional (29-5%) HP:0003202
7 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
8 abnormal cerebellum morphology 58 31 very rare (1%) Occasional (29-5%) HP:0001317
9 lower limb pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0012514
10 spastic gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002064
11 knee flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0006380
12 thoracic scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002943
13 absent patellar reflexes 31 occasional (7.5%) HP:0006844
14 hyperreflexia 58 31 very rare (1%) Frequent (79-30%) HP:0001347
15 spasticity 31 very rare (1%) HP:0001257
16 babinski sign 31 very rare (1%) HP:0003487

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
clonus
lower limb spasticity
spastic gait
walking on tiptoes
more
Skeletal Spine:
thoracic scoliosis (1 patient)

Muscle Soft Tissue:
amyotrophy

Skeletal Limbs:
flexion contractures of the knees

Clinical features from OMIM:

615681

Drugs & Therapeutics for Spastic Paraplegia 62, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 62, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 62, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 62, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 62, Autosomal Recessive 29 ERLIN1
2 Spastic Paraplegia 62 29

Anatomical Context for Spastic Paraplegia 62, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 62, Autosomal Recessive:

40
Cerebellum, Skeletal Muscle, Eye, Bone, Skin

Publications for Spastic Paraplegia 62, Autosomal Recessive

Articles related to Spastic Paraplegia 62, Autosomal Recessive:

# Title Authors PMID Year
1
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 56 6
24482476 2014
2
Hereditary Spastic Paraplegia Overview 6
20301682 2000

Variations for Spastic Paraplegia 62, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 62, Autosomal Recessive:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ERLIN1 NM_006459.4(ERLIN1):c.763C>T (p.Arg255Ter)SNV Pathogenic 226426 rs876657413 10:101914679-101914679 10:100154922-100154922
2 ERLIN1 NM_006459.4(ERLIN1):c.149G>T (p.Gly50Val)SNV Pathogenic 226427 rs876661322 10:101943559-101943559 10:100183802-100183802
3 ERLIN1 NM_006459.4(ERLIN1):c.773C>T (p.Ala258Val)SNV Uncertain significance 476196 rs763392279 10:101914669-101914669 10:100154912-100154912
4 ERLIN1 NM_006459.4(ERLIN1):c.195+3G>ASNV Uncertain significance 596294 rs201208911 10:101943510-101943510 10:100183753-100183753
5 ERLIN1 NM_006459.4(ERLIN1):c.610G>A (p.Val204Ile)SNV Uncertain significance 639284 10:101923806-101923806 10:100164049-100164049
6 ERLIN1 NM_006459.4(ERLIN1):c.79A>G (p.Lys27Glu)SNV Uncertain significance 655797 10:101945305-101945305 10:100185548-100185548
7 ERLIN1 NM_006459.4(ERLIN1):c.430+4A>TSNV Uncertain significance 663064 10:101935698-101935698 10:100175941-100175941

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 62, Autosomal Recessive:

73
# Symbol AA change Variation ID SNP ID
1 ERLIN1 p.Gly50Val VAR_077847 rs876661322

Expression for Spastic Paraplegia 62, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 62, Autosomal Recessive.

Pathways for Spastic Paraplegia 62, Autosomal Recessive

GO Terms for Spastic Paraplegia 62, Autosomal Recessive

Sources for Spastic Paraplegia 62, Autosomal Recessive

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
Content
Loading form....