MCID: SPS227
MIFTS: 27

Spastic Paraplegia 62, Autosomal Recessive

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

Aliases & Classifications for Spastic Paraplegia 62, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 62, Autosomal Recessive:

Name: Spastic Paraplegia 62, Autosomal Recessive 57 75 29 6
Spg62 57 12 59 75
Autosomal Recessive Spastic Paraplegia Type 62 12 59
Spastic Paraplegia 62 57 29
Autosomal Recessive Spastic Paraplegia 62 12
Hereditary Spastic Paraplegia 62 12
Paraplegia, Spastic, Type 62 40

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic paraplegia type 62
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
spastic paraplegia 62, autosomal recessive:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spastic Paraplegia 62, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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 skeletal muscle and cerebellum, and related phenotypes are dysarthria and hyperreflexia

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

Description from OMIM: 615681

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 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

Symptoms & Phenotypes for Spastic Paraplegia 62, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spastic Paraplegia 62, Autosomal Recessive:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 59 32 very rare (1%) Frequent (79-30%) HP:0001260
2 hyperreflexia 59 32 very rare (1%) Frequent (79-30%) HP:0001347
3 clonus 59 32 occasional (7.5%) Occasional (29-5%) HP:0002169
4 skeletal muscle atrophy 59 32 very rare (1%) Occasional (29-5%) HP:0003202
5 areflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001284
6 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
7 abnormality of the cerebellum 59 32 very rare (1%) Occasional (29-5%) HP:0001317
8 lower limb spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002061
9 lower limb pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0012514
10 spastic gait 59 32 occasional (7.5%) Occasional (29-5%) HP:0002064
11 knee flexion contracture 59 32 occasional (7.5%) Occasional (29-5%) HP:0006380
12 thoracic scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002943
13 tip-toe gait 59 32 frequent (33%) Frequent (79-30%) HP:0030051
14 spasticity 32 very rare (1%) HP:0001257
15 babinski sign 32 very rare (1%) HP:0003487
16 absent patellar reflexes 32 occasional (7.5%) HP:0006844

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:

41
Skeletal Muscle, Cerebellum

Publications for Spastic Paraplegia 62, Autosomal Recessive

Variations for Spastic Paraplegia 62, Autosomal Recessive

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

75
# Symbol AA change Variation ID SNP ID
1 ERLIN1 p.Gly48Val VAR_077847

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ERLIN1 NM_006459.3(ERLIN1): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs876657413 GRCh38 Chromosome 10, 100154922: 100154922
2 ERLIN1 NM_006459.3(ERLIN1): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs876657413 GRCh37 Chromosome 10, 101914679: 101914679
3 ERLIN1 NM_006459.3(ERLIN1): c.149G> T (p.Gly50Val) single nucleotide variant Pathogenic rs876661322 GRCh37 Chromosome 10, 101943559: 101943559
4 ERLIN1 NM_006459.3(ERLIN1): c.149G> T (p.Gly50Val) single nucleotide variant Pathogenic rs876661322 GRCh38 Chromosome 10, 100183802: 100183802
5 ERLIN1 NM_006459.3(ERLIN1): c.773C> T (p.Ala258Val) single nucleotide variant Uncertain significance rs763392279 GRCh37 Chromosome 10, 101914669: 101914669
6 ERLIN1 NM_006459.3(ERLIN1): c.773C> T (p.Ala258Val) single nucleotide variant Uncertain significance rs763392279 GRCh38 Chromosome 10, 100154912: 100154912

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 ExPASy
19 FMA
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30 HGMD
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32 HPO
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45 MESH via Orphanet
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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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