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SPG80
MCID: SPS232
MIFTS: 25

Spastic Paraplegia 80, Autosomal Dominant (SPG80)

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
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Aliases & Classifications for Spastic Paraplegia 80, Autosomal Dominant

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MalaCards integrated aliases for Spastic Paraplegia 80, Autosomal Dominant:

Name: Spastic Paraplegia 80, Autosomal Dominant 56 73 29 6
Spg80 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
mean age at onset 8 years


HPO:

31
spastic paraplegia 80, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Gastrointestinal diseases Skin diseases Respiratory diseases Bone diseases Nephrological diseases Ear diseases Mental diseases
See all MalaCards categories (disease lists)


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Summaries for Spastic Paraplegia 80, Autosomal Dominant

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OMIM : 56 Spastic paraplegia-80 (SPG80) is an autosomal dominant juvenile-onset neurologic disorder characterized by onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs and resulting in difficulty walking or loss of independent ambulation, sometimes as early as the second decade. Some patients may have cerebellar signs and mild cognitive impairment, but most have a pure form of the disorder (summary by Farazi Fard et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600). (618418)

MalaCards based summary : Spastic Paraplegia 80, Autosomal Dominant, also known as spg80, is related to hereditary spastic paraplegia and paraplegia. An important gene associated with Spastic Paraplegia 80, Autosomal Dominant is UBAP1 (Ubiquitin Associated Protein 1). Affiliated tissues include cerebellum, and related phenotypes are ataxia and mental deterioration

UniProtKB/Swiss-Prot : 73 Spastic paraplegia 80, autosomal dominant: 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.

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Related Diseases for Spastic Paraplegia 80, Autosomal Dominant

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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
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 80, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hereditary spastic paraplegia 10.2
2 paraplegia 10.2

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Symptoms & Phenotypes for Spastic Paraplegia 80, Autosomal Dominant

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Human phenotypes related to Spastic Paraplegia 80, Autosomal Dominant:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 very rare (1%) HP:0001251
2 mental deterioration 31 very rare (1%) HP:0001268
3 abnormal cerebellum morphology 31 very rare (1%) HP:0001317
4 urinary urgency 31 very rare (1%) HP:0000012
5 dysmetric saccades 31 very rare (1%) HP:0000641
6 gaze-evoked nystagmus 31 very rare (1%) HP:0000640
7 gait disturbance 31 HP:0001288
8 hyperreflexia 31 HP:0001347
9 spastic paraplegia 31 HP:0001258
10 babinski sign 31 HP:0003487

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
spastic paraplegia
extensor plantar responses
gait difficulties
cerebellar signs (in some patients)
more
Head And Neck Eyes:
gaze-evoked nystagmus (in some patients)
saccadic pursuits (in some patients)
dysmetric saccades (in some patients)

Genitourinary Bladder:
urinary urgency (in some patients)

Clinical features from OMIM:

618418
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Drugs & Therapeutics for Spastic Paraplegia 80, Autosomal Dominant

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Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 80, Autosomal Dominant

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Genetic Tests for Spastic Paraplegia 80, Autosomal Dominant

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Genetic tests related to Spastic Paraplegia 80, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 80, Autosomal Dominant 29
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Anatomical Context for Spastic Paraplegia 80, Autosomal Dominant

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MalaCards organs/tissues related to Spastic Paraplegia 80, Autosomal Dominant:

40
Cerebellum
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Publications for Spastic Paraplegia 80, Autosomal Dominant

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Articles related to Spastic Paraplegia 80, Autosomal Dominant:

# Title Authors PMID Year
1
Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia. 6 56
31203368 2019
2
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. 6 56
30929741 2019
3
Hereditary Spastic Paraplegia Overview 6
20301682 2000
4
Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1. 61
32222895 2020
5
UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes. 61
31515522 2019
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Variations for Spastic Paraplegia 80, Autosomal Dominant

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ClinVar genetic disease variations for Spastic Paraplegia 80, Autosomal Dominant:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 UBAP1 NM_016525.5(UBAP1):c.373C>T (p.Gln125Ter)SNV Pathogenic 627553 rs1563920172 9:34241396-34241396 9:34241398-34241398
2 UBAP1 NM_016525.5(UBAP1):c.286_290dup (p.Glu97fs)duplication Pathogenic 627554 rs1563919973 9:34241308-34241309 9:34241310-34241311
3 UBAP1 NM_016525.5(UBAP1):c.295dup (p.Asp99fs)duplication Pathogenic 627555 rs1563920000 9:34241317-34241318 9:34241319-34241320
4 UBAP1 NM_016525.5(UBAP1):c.361dup (p.Leu121fs)duplication Pathogenic 627556 rs1563920132 9:34241382-34241383 9:34241384-34241385
5 UBAP1 NM_016525.5(UBAP1):c.247_248insGTGAATTC (p.Ile83fs)insertion Pathogenic 689455 9:34241270-34241271 9:34241272-34241273
6 UBAP1 NM_016525.5(UBAP1):c.526G>T (p.Glu176Ter)SNV Pathogenic 689456 9:34241549-34241549 9:34241551-34241551
7 UBAP1 NM_016525.5(UBAP1):c.316A>T (p.Lys106Ter)SNV Pathogenic 827821 9:34241339-34241339 9:34241341-34241341
8 UBAP1 NM_016525.5(UBAP1):c.436_437insTGAG (p.Ser146fs)insertion Pathogenic 627551 rs1563920268 9:34241459-34241460 9:34241461-34241462
9 UBAP1 NM_016525.5(UBAP1):c.426_427del (p.Lys143fs)deletion Uncertain significance 627552 rs1563920252 9:34241448-34241449 9:34241450-34241451
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Expression for Spastic Paraplegia 80, Autosomal Dominant

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Search GEO for disease gene expression data for Spastic Paraplegia 80, Autosomal Dominant.
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Pathways for Spastic Paraplegia 80, Autosomal Dominant

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GO Terms for Spastic Paraplegia 80, Autosomal Dominant

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Sources for Spastic Paraplegia 80, Autosomal Dominant

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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