Spastic Paraplegia 79, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Spastic Paraplegia 79, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 79, Autosomal Recessive:

Name: Spastic Paraplegia 79, Autosomal Recessive ⁵⁷ ⁷⁵ ²⁹ ⁶

Neurodegeneration with Optic Atrophy, Childhood-Onset ⁵⁷ ⁷⁵ ⁷³

Spg79 ⁵⁷ ⁷⁵

Ndgoa ⁵⁷ ⁷⁵

Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome ⁵⁹

Neurodegeneration with Optic Atrophy, Childhood-Onset; Ndgoa ⁵⁷

Neurodegeneration, with Optic Atrophy, Childhood-Onset ⁴⁰

Characteristics:

Orphanet epidemiological data:

⁵⁹

early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in first decade
two unrelated families have been reported (last curated february 2017)

HPO:

³²

spastic paraplegia 79, autosomal recessive:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Gastrointestinal diseases Bone diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Other degenerative diseases of the nervous system

Other degenerative diseases of nervous system, not elsewhere classified

Other specified degenerative diseases of nervous system

Orphanet: ⁵⁹

Rare neurological diseases

Rare eye diseases

External Ids:

OMIM ⁵⁷ 615491

Orphanet ⁵⁹ ORPHA352654

ICD10 via Orphanet ³⁴ G31.8

MedGen ⁴² C3809665

MeSH ⁴⁴ D015418

UMLS ⁷³ C3809665

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Summaries for Spastic Paraplegia 79, Autosomal Recessive

UniProtKB/Swiss-Prot : ⁷⁵ Spastic paraplegia 79, 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. SPG79 is characterized by childhood onset blindness, cerebellar ataxia, nystagmus, dorsal column dysfunction, and spasticity with upper motor neuron dysfunction.

MalaCards based summary : Spastic Paraplegia 79, Autosomal Recessive, also known as neurodegeneration with optic atrophy, childhood-onset, is related to parkinson disease, late-onset, and has symptoms including cerebellar ataxia, muscular fasciculation and quadriparesis. An important gene associated with Spastic Paraplegia 79, Autosomal Recessive is UCHL1 (Ubiquitin C-Terminal Hydrolase L1). Affiliated tissues include eye, and related phenotypes are nystagmus and pes planus

OMIM : ⁵⁷ SPG79 is an autosomal recessive progressive neurologic disorder characterized by onset of spastic paraplegia and optic atrophy in the first decade of life. Additional features are variable, but may include peripheral neuropathy, cerebellar ataxia, and cognitive impairment (summary by Rydning et al., 2017). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). (615491)

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Related Diseases for Spastic Paraplegia 79, 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	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	Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 51	Hereditary Spastic Paraplegia 72
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 51
Spastic Paraplegia 5a	Spastic Paraplegia 5b
Spastic Paraplegia 6	Spastic Paraplegia 9
Autosomal Recessive Spastic Paraplegia Type 60	Autosomal Recessive Spastic Paraplegia Type 59
Autosomal Recessive Spastic Paraplegia Type 68	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

Diseases related to Spastic Paraplegia 79, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	parkinson disease, late-onset	9.0	UCHL1 UCHL1-AS1

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Symptoms & Phenotypes for Spastic Paraplegia 79, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
nystagmus
optic atrophy
myopia
visual loss, progressive
normal electroretinogram
more

Skeletal Feet:
pes planus
pes cavus

Skeletal:
joint contractures

Head And Neck Head:
head titubation

Neurologic Central Nervous System:
hyperreflexia
dysmetria
spastic paraplegia
ankle clonus
tetraparesis
more

Muscle Soft Tissue:
fasciculations
myokymia

Neurologic Peripheral Nervous System:
axonal sensorimotor neuropathy
impaired distal sensation to vibration and position

Clinical features from OMIM:

615491

Human phenotypes related to Spastic Paraplegia 79, Autosomal Recessive:

³² (show all 20)

#	Description	HPO Frequency	HPO Source Accession
1	nystagmus ³²		HP:0000639
2	pes planus ³²		HP:0001763
3	optic atrophy ³²		HP:0000648
4	flexion contracture ³²		HP:0001371
5	myotonia ³²	occasional (7.5%)	HP:0002486
6	progressive visual loss ³²		HP:0000529
7	myopia ³²		HP:0000545
8	babinski sign ³²		HP:0003487
9	dysmetria ³²		HP:0001310
10	pes cavus ³²		HP:0001761
11	intention tremor ³²	occasional (7.5%)	HP:0002080
12	neurodegeneration ³²		HP:0002180
13	fasciculations ³²		HP:0002380
14	spastic paraplegia ³²		HP:0001258
15	cerebellar atrophy ³²		HP:0001272
16	ankle clonus ³²		HP:0011448
17	cerebral atrophy ³²		HP:0002059
18	tetraparesis ³²		HP:0002273
19	myokymia ³²		HP:0002411
20	head titubation ³²		HP:0002599

UMLS symptoms related to Spastic Paraplegia 79, Autosomal Recessive:

cerebellar ataxia, muscular fasciculation, quadriparesis, myokymia, head titubation

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Drugs & Therapeutics for Spastic Paraplegia 79, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 79, Autosomal Recessive

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Genetic Tests for Spastic Paraplegia 79, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 79, Autosomal Recessive:

#	Genetic test	Affiliating Genes
1	Spastic Paraplegia 79, Autosomal Recessive ²⁹	UCHL1

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Anatomical Context for Spastic Paraplegia 79, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 79, Autosomal Recessive:

⁴¹

Eye

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Publications for Spastic Paraplegia 79, Autosomal Recessive

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Genes for Spastic Paraplegia 79, Autosomal Recessive

Genes related to Spastic Paraplegia 79, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	UCHL1	Ubiquitin C-Terminal Hydrolase L1	Protein Coding	1678.64	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	23359680 3340629 28007905 (more) 4514348
2	UCHL1-AS1	UCHL1 Antisense RNA 1 (Head To Head)	RNA Gene	7.95	GeneCards inferred via : Variants (show sections)

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Variations for Spastic Paraplegia 79, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 79, Autosomal Recessive:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	UCHL1	p.Glu7Ala	VAR_070875	rs397515634
2	UCHL1	p.Arg178Gln	VAR_078119	rs768996179
3	UCHL1	p.Ala216Asp	VAR_078120	rs1057519600Spastic

ClinVar genetic disease variations for Spastic Paraplegia 79, Autosomal Recessive:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	UCHL1	NM_004181.4(UCHL1): c.20A> C (p.Glu7Ala)	single nucleotide variant	Pathogenic	rs397515634	GRCh37	Chromosome 4, 41259013: 41259013
2	UCHL1	NM_004181.4(UCHL1): c.20A> C (p.Glu7Ala)	single nucleotide variant	Pathogenic	rs397515634	GRCh38	Chromosome 4, 41256996: 41256996
3	UCHL1	NM_004181.4(UCHL1): c.533G> A (p.Arg178Gln)	single nucleotide variant	Pathogenic	rs768996179	GRCh37	Chromosome 4, 41266126: 41266126
4	UCHL1	NM_004181.4(UCHL1): c.533G> A (p.Arg178Gln)	single nucleotide variant	Pathogenic	rs768996179	GRCh38	Chromosome 4, 41264109: 41264109
5	UCHL1	NM_004181.4(UCHL1): c.647C> A (p.Ala216Asp)	single nucleotide variant	Pathogenic	rs1057519600	GRCh38	Chromosome 4, 41268048: 41268048
6	UCHL1	NM_004181.4(UCHL1): c.647C> A (p.Ala216Asp)	single nucleotide variant	Pathogenic	rs1057519600	GRCh37	Chromosome 4, 41270065: 41270065
7	UCHL1	NM_004181.4(UCHL1): c.459+2T> C	single nucleotide variant	Likely pathogenic		GRCh37	Chromosome 4, 41263942: 41263942
8	UCHL1	NM_004181.4(UCHL1): c.459+2T> C	single nucleotide variant	Likely pathogenic		GRCh38	Chromosome 4, 41261925: 41261925

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Expression for Spastic Paraplegia 79, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 79, Autosomal Recessive.

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Pathways for Spastic Paraplegia 79, Autosomal Recessive

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GO Terms for Spastic Paraplegia 79, Autosomal Recessive

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Sources for Spastic Paraplegia 79, Autosomal Recessive

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

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¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

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¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia