Spastic Paraplegia 80, Autosomal Dominant disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Spastic Paraplegia 80, Autosomal Dominant

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)

External Ids:

OMIM ⁵⁶ 618418

OMIM Phenotypic Series ⁵⁶ PS303350

MeSH ⁴³ D015419

MedGen ⁴¹ CN258384

SNOMED-CT via HPO ⁶⁸ 192967009 22325002 246586009 more

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Summaries for Spastic Paraplegia 80, Autosomal Dominant

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

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 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

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	gaze-evoked nystagmus ³¹	very rare (1%)	HP:0000640
6	dysmetric saccades ³¹	very rare (1%)	HP:0000641
7	gait disturbance ³¹		HP:0001288
8	hyperreflexia ³¹		HP:0001347
9	babinski sign ³¹		HP:0003487
10	spastic paraplegia ³¹		HP:0001258

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

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

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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

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Anatomical Context for Spastic Paraplegia 80, Autosomal Dominant

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

⁴⁰

Cerebellum

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Publications for Spastic Paraplegia 80, Autosomal Dominant

Articles related to Spastic Paraplegia 80, Autosomal Dominant:

#	Title	Authors	PMID	Year
1	Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia. ⁵⁶ ⁶	Lin X...Chen WJ	31203368	2019
2	Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. ⁵⁶ ⁶	Farazi Fard MA...Faghihi MA	30929741	2019
3	Hereditary Spastic Paraplegia Overview ⁶	Hedera P	20301682	2000
4	UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes. ⁶¹	Nan H...Takiyama Y	31515522	2019

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Genes for Spastic Paraplegia 80, Autosomal Dominant

Genes related to Spastic Paraplegia 80, Autosomal Dominant (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	UBAP1	Ubiquitin Associated Protein 1	Protein Coding	1018.61	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	30929741 31203368

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Variations for Spastic Paraplegia 80, Autosomal Dominant

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.436_437insTGAG (p.Ser146fs)	insertion	Pathogenic	627551	rs1563920268	9:34241459-34241460	9:34241461-34241462
2	UBAP1	NM_016525.5(UBAP1):c.426_427del (p.Lys143fs)	deletion	Pathogenic	627552	rs1563920252	9:34241449-34241450	9:34241451-34241452
3	UBAP1	NM_016525.5(UBAP1):c.373C>T (p.Gln125Ter)	SNV	Pathogenic	627553	rs1563920172	9:34241396-34241396	9:34241398-34241398
4	UBAP1	NM_016525.5(UBAP1):c.286_290dup (p.Glu97fs)	duplication	Pathogenic	627554	rs1563919973	9:34241309-34241313	9:34241311-34241315
5	UBAP1	NM_016525.5(UBAP1):c.295dup (p.Asp99fs)	duplication	Pathogenic	627555	rs1563920000	9:34241318-34241318	9:34241320-34241320
6	UBAP1	NM_016525.5(UBAP1):c.361dup (p.Leu121fs)	duplication	Pathogenic	627556	rs1563920132	9:34241384-34241384	9:34241386-34241386
7	UBAP1	NM_016525.5(UBAP1):c.247_248insGTGAATTC (p.Ile83fs)	insertion	Pathogenic	689455		9:34241270-34241271	9:34241272-34241273
8	UBAP1	NM_016525.5(UBAP1):c.526G>T (p.Glu176Ter)	SNV	Pathogenic	689456		9:34241549-34241549	9:34241551-34241551

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Expression for Spastic Paraplegia 80, Autosomal Dominant

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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⁶¹ PubMed

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⁶⁴ R&D Systems

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Spastic Paraplegia 80, Autosomal Dominant (SPG80)

Aliases & Classifications for Spastic Paraplegia 80, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 80, Autosomal Dominant:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Spastic Paraplegia 80, Autosomal Dominant

Related Diseases for Spastic Paraplegia 80, Autosomal Dominant

Diseases in the Spastic Paraplegia 3a family:

Diseases related to Spastic Paraplegia 80, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Spastic Paraplegia 80, Autosomal Dominant

Human phenotypes related to Spastic Paraplegia 80, Autosomal Dominant:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Spastic Paraplegia 80, Autosomal Dominant

Genetic Tests for Spastic Paraplegia 80, Autosomal Dominant

Genetic tests related to Spastic Paraplegia 80, Autosomal Dominant:

Anatomical Context for Spastic Paraplegia 80, Autosomal Dominant

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

Publications for Spastic Paraplegia 80, Autosomal Dominant

Articles related to Spastic Paraplegia 80, Autosomal Dominant:

Genes for Spastic Paraplegia 80, Autosomal Dominant

Genes related to Spastic Paraplegia 80, Autosomal Dominant (1 elite genes):

Variations for Spastic Paraplegia 80, Autosomal Dominant

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

Expression 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