SPG82
MCID: SPS239
MIFTS: 21

Spastic Paraplegia 82, Autosomal Recessive (SPG82)

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 82, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 82, Autosomal Recessive:

Name: Spastic Paraplegia 82, Autosomal Recessive 57 73 6
Spg82 57 73

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
progressive disorder


HPO:

31
spastic paraplegia 82, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spastic Paraplegia 82, Autosomal Recessive

OMIM® : 57 Autosomal recessive spastic paraplegia-82 (SPG82) is a progressive neurologic disorder characterized by global developmental delay apparent from infancy, significant motor impairment, and progressive spasticity mainly affecting the lower limbs. Some patients never achieve walking, whereas others lose the ability to walk or walk with an unsteady gait. Additional features include variably impaired intellectual development with language difficulties, ocular anomalies, such as nystagmus and visual impairment, and seizures. Brain imaging shows progressive cerebral and cerebellar atrophy, as well as white matter hyperintensities. Based on the additional abnormalities, the disorder can be classified as a type of complicated SPG (summary by Vaz et al., 2019). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). (618770) (Updated 05-Mar-2021)

MalaCards based summary : Spastic Paraplegia 82, Autosomal Recessive, is also known as spg82. An important gene associated with Spastic Paraplegia 82, Autosomal Recessive is PCYT2 (Phosphate Cytidylyltransferase 2, Ethanolamine). Affiliated tissues include brain, and related phenotypes are intellectual disability and spasticity

UniProtKB/Swiss-Prot : 73 Spastic paraplegia 82, 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. SPG82 is a complicated form characterized by global developmental delay with regression, spastic para- or tetraparesis, epilepsy and progressive cerebral and cerebellar atrophy.

Related Diseases for Spastic Paraplegia 82, 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 82, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 82, Autosomal Recessive:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 spasticity 31 very rare (1%) HP:0001257
3 hyperreflexia 31 very rare (1%) HP:0001347
4 nystagmus 31 very rare (1%) HP:0000639
5 developmental regression 31 very rare (1%) HP:0002376
6 delayed speech and language development 31 very rare (1%) HP:0000750
7 optic atrophy 31 very rare (1%) HP:0000648
8 reduced visual acuity 31 very rare (1%) HP:0007663
9 babinski sign 31 very rare (1%) HP:0003487
10 cerebral atrophy 31 very rare (1%) HP:0002059
11 focal-onset seizure 31 very rare (1%) HP:0007359
12 delayed ability to sit 31 very rare (1%) HP:0025336
13 delayed ability to walk 31 very rare (1%) HP:0031936
14 bilateral tonic-clonic seizure with generalized onset 31 very rare (1%) HP:0025190

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
spasticity
hyperreflexia
ataxia
dysarthria
more
Head And Neck Eyes:
visual impairment
rotary nystagmus

Growth Other:
poor overall growth

Head And Neck Ears:
sensorineural hearing impairment (in some patients)

Skeletal Spine:
scoliosis

Skeletal:
joint contractures

Muscle Soft Tissue:
axial hypotonia
peripheral hypertonia

Clinical features from OMIM®:

618770 (Updated 05-Mar-2021)

Drugs & Therapeutics for Spastic Paraplegia 82, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 82, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 82, Autosomal Recessive

Anatomical Context for Spastic Paraplegia 82, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 82, Autosomal Recessive:

40
Brain

Publications for Spastic Paraplegia 82, Autosomal Recessive

Articles related to Spastic Paraplegia 82, Autosomal Recessive:

# Title Authors PMID Year
1
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia. 6 57
31637422 2019

Variations for Spastic Paraplegia 82, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 82, Autosomal Recessive:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PCYT2 NM_002861.5(PCYT2):c.866C>T (p.Pro289Leu) SNV Pathogenic 812571 rs1204173741 17:79863583-79863583 17:81905707-81905707
2 PCYT2 NM_002861.5(PCYT2):c.676C>T (p.His226Tyr) SNV Pathogenic 812572 rs778113360 17:79864636-79864636 17:81906760-81906760
3 PCYT2 NM_002861.5(PCYT2):c.1075C>T (p.Arg359Ter) SNV Pathogenic 812573 rs377278120 17:79862804-79862804 17:81904928-81904928

Expression for Spastic Paraplegia 82, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 82, Autosomal Recessive.

Pathways for Spastic Paraplegia 82, Autosomal Recessive

GO Terms for Spastic Paraplegia 82, Autosomal Recessive

Sources for Spastic Paraplegia 82, 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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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