SPG83
MCID: SPS240
MIFTS: 18

Spastic Paraplegia 83, Autosomal Recessive (SPG83)

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 83, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 83, Autosomal Recessive:

Name: Spastic Paraplegia 83, Autosomal Recessive 57 72 6
Spg83 57 72
Paraplegia, Spastic, Type 83, Autosomal Recessive 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in the second decade


HPO:

31
spastic paraplegia 83, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset progressive


Classifications:



Summaries for Spastic Paraplegia 83, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 Spastic paraplegia 83, 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. SPG83 is characterized by juvenile onset of progressive lower limb spasticity resulting in gait instability.

MalaCards based summary : Spastic Paraplegia 83, Autosomal Recessive, is also known as spg83. An important gene associated with Spastic Paraplegia 83, Autosomal Recessive is HPDL (4-Hydroxyphenylpyruvate Dioxygenase Like). Related phenotypes are dysphagia and myalgia

OMIM® : 57 Autosomal recessive spastic paraplegia-83 (SPG83) is a neurologic disorder characterized by progressive lower limb spasticity resulting in gait instability. Patients develop symptoms in the second decade, consistent with juvenile onset. Some patients may have myalgia or mild dysarthria, but the phenotype is considered to be a pure type of SPG with no additional neurologic abnormalities (summary by Husain et al., 2020). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). (619027) (Updated 05-Apr-2021)

Related Diseases for Spastic Paraplegia 83, 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

Symptoms & Phenotypes for Spastic Paraplegia 83, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 83, Autosomal Recessive:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 dysphagia 31 very rare (1%) HP:0002015
2 myalgia 31 very rare (1%) HP:0003326
3 paresthesia 31 very rare (1%) HP:0003401
4 spastic paraplegia 31 very rare (1%) HP:0001258
5 gait ataxia 31 very rare (1%) HP:0002066
6 babinski sign 31 very rare (1%) HP:0003487
7 unsteady gait 31 very rare (1%) HP:0002317
8 urinary urgency 31 very rare (1%) HP:0000012
9 muscle spasm 31 very rare (1%) HP:0003394
10 lower limb hyperreflexia 31 very rare (1%) HP:0002395

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Muscle Soft Tissue:
muscle weakness
myalgia
muscle cramps

Genitourinary Bladder:
urinary urgency (in some patients)

Neurologic Central Nervous System:
spastic paraparesis
extensor plantar responses
gait instability
dysarthria (in some patients)
hyperreflexia of the lower limbs
more

Clinical features from OMIM®:

619027 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spastic Paraplegia 83, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 83, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 83, Autosomal Recessive

Anatomical Context for Spastic Paraplegia 83, Autosomal Recessive

Publications for Spastic Paraplegia 83, Autosomal Recessive

Articles related to Spastic Paraplegia 83, Autosomal Recessive:

# Title Authors PMID Year
1
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia. 57 6
32707086 2020

Variations for Spastic Paraplegia 83, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 83, Autosomal Recessive:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HPDL NM_032756.3:c.149G>A SNV Pathogenic 979212 GRCh37: 1:45792969-45792969
GRCh38: 1:45327297-45327297

Expression for Spastic Paraplegia 83, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 83, Autosomal Recessive.

Pathways for Spastic Paraplegia 83, Autosomal Recessive

GO Terms for Spastic Paraplegia 83, Autosomal Recessive

Sources for Spastic Paraplegia 83, 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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