SPG80
MCID: SPS232
MIFTS: 20

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

Aliases & Classifications for Spastic Paraplegia 80, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 80, Autosomal Dominant:

Name: Spastic Paraplegia 80, Autosomal Dominant 57 74 29 6
Spg80 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
mean age at onset 8 years


Classifications:



External Ids:

MeSH 44 D015419
MedGen 42 CN258384

Summaries for Spastic Paraplegia 80, Autosomal Dominant

OMIM : 57 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, is also known as spg80. An important gene associated with Spastic Paraplegia 80, Autosomal Dominant is UBAP1 (Ubiquitin Associated Protein 1).

UniProtKB/Swiss-Prot : 74 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.

Related Diseases for Spastic Paraplegia 80, Autosomal Dominant

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 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 47
Spastic Paraplegia 51 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 80, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
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

Drugs & Therapeutics for Spastic Paraplegia 80, Autosomal Dominant

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

Genetic Tests for Spastic Paraplegia 80, Autosomal Dominant

Genetic tests related to Spastic Paraplegia 80, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 80, Autosomal Dominant 29 UBAP1

Anatomical Context for Spastic Paraplegia 80, Autosomal Dominant

Publications for Spastic Paraplegia 80, Autosomal Dominant

Articles related to Spastic Paraplegia 80, Autosomal Dominant:

# Title Authors PMID Year
1
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. 8 71
30929741 2019
2
Hereditary Spastic Paraplegia Overview 71
20301682 2000

Variations for Spastic Paraplegia 80, Autosomal Dominant

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 UBAP1 NM_016525.5(UBAP1): c.436_437insTGAG (p.Ser146fs) insertion Pathogenic 9:34241459-34241460 9:34241461-34241462
2 UBAP1 NM_016525.5(UBAP1): c.426_427del (p.Lys143fs) deletion Pathogenic 9:34241449-34241450 9:34241451-34241452
3 UBAP1 NM_016525.5(UBAP1): c.373C> T (p.Gln125Ter) single nucleotide variant Pathogenic 9:34241396-34241396 9:34241398-34241398
4 UBAP1 NM_016525.5(UBAP1): c.286_290dup (p.Glu97fs) duplication Pathogenic 9:34241309-34241313 9:34241311-34241315
5 UBAP1 NM_016525.5(UBAP1): c.295dup (p.Asp99fs) duplication Pathogenic 9:34241318-34241318 9:34241320-34241320
6 UBAP1 NM_016525.5(UBAP1): c.361dup (p.Leu121fs) duplication Pathogenic 9:34241384-34241384 9:34241386-34241386

Expression for Spastic Paraplegia 80, Autosomal Dominant

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

Pathways for Spastic Paraplegia 80, Autosomal Dominant

GO Terms for Spastic Paraplegia 80, Autosomal Dominant

Sources for Spastic Paraplegia 80, Autosomal Dominant

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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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