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 ⁵⁸ ⁷⁶ ³⁰ ⁶

Neurodegeneration with Optic Atrophy, Childhood-Onset ⁵⁸ ⁷⁶ ⁷⁴

Spg79 ⁵⁸ ⁷⁶

Ndgoa ⁵⁸ ⁷⁶

Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome ⁶⁰

Neurodegeneration with Optic Atrophy, Childhood-Onset; Ndgoa ⁵⁸

Neurodegeneration, with Optic Atrophy, Childhood-Onset ⁴¹

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

Inheritance:
autosomal recessive

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

HPO:

³³

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 Mental diseases Skin diseases Nephrological diseases Ear diseases Gastrointestinal diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

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: ⁶⁰

Rare neurological diseases

Rare eye diseases

External Ids:

OMIM ⁵⁸ 615491

MeSH ⁴⁵ D015418

ICD10 via Orphanet ³⁵ G31.8

Orphanet ⁶⁰ ORPHA352654

MedGen ⁴³ C3809665

UMLS ⁷⁴ C3809665

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Summaries for Spastic Paraplegia 79, Autosomal Recessive

UniProtKB/Swiss-Prot : ⁷⁶ 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 myokymia, head titubation and muscular fasciculation. An important gene associated with Spastic Paraplegia 79, Autosomal Recessive is UCHL1 (Ubiquitin C-Terminal Hydrolase L1). Affiliated tissues include eye, skin and bone, and related phenotypes are myotonia and intention tremor

OMIM : ⁵⁸ 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, 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	Hereditary Spastic Paraplegia 23
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 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

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	9.5	UCHL1 UCHL1-AS1

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Symptoms & Phenotypes for Spastic Paraplegia 79, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 79, Autosomal Recessive:

³³ (show all 21)

#	Description	HPO Frequency	HPO Source Accession
1	myotonia ³³	occasional (7.5%)	HP:0002486
2	intention tremor ³³	occasional (7.5%)	HP:0002080
3	nystagmus ³³		HP:0000639
4	pes planus ³³		HP:0001763
5	optic atrophy ³³		HP:0000648
6	flexion contracture ³³		HP:0001371
7	progressive visual loss ³³		HP:0000529
8	myopia ³³		HP:0000545
9	babinski sign ³³		HP:0003487
10	dysmetria ³³		HP:0001310
11	pes cavus ³³		HP:0001761
12	neurodegeneration ³³		HP:0002180
13	fasciculations ³³		HP:0002380
14	spastic paraplegia ³³		HP:0001258
15	cerebellar atrophy ³³		HP:0001272
16	ankle clonus ³³		HP:0011448
17	sensorimotor neuropathy ³³		HP:0007141
18	cerebral atrophy ³³		HP:0002059
19	tetraparesis ³³		HP:0002273
20	myokymia ³³		HP:0002411
21	head titubation ³³		HP:0002599

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

Skeletal Feet:
pes planus
pes cavus

Head And Neck Head:
head titubation

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

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

Muscle Soft Tissue:
fasciculations
myokymia

Skeletal:
joint contractures

Clinical features from OMIM:

615491

UMLS symptoms related to Spastic Paraplegia 79, Autosomal Recessive:

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

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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 ³⁰	UCHL1

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Anatomical Context for Spastic Paraplegia 79, Autosomal Recessive

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

⁴²

Eye, Skin, Bone

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Publications for Spastic Paraplegia 79, Autosomal Recessive

Articles related to Spastic Paraplegia 79, Autosomal Recessive:

#	Title	Authors	Year
1	Novel UCHL1 mutations reveal new insights into ubiquitin processing. ( 28007905 )	Rydning SL...Selmer KK	2017
2	Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. ( 23359680 )	Bilguvar K...Gunel M	2013
3	Gracile axonal dystrophy (GAD), a new neurological mutant in the mouse. ( 3340629 )	Yamazaki K...Ando K	1988
4	Spastic paraparesis associated with optic atrophy in monozygotic twins. ( 4514348 )	Nyberg-Hansen R...Refsum S	1972

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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	1678.66	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	23359680 3340629 28007905 (more) 4514348
2	UCHL1-AS1	UCHL1 Antisense RNA 1 (Head To Head)	RNA Gene	7.87	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:

⁷⁶

#	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	rs105751960

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	rs1554004931	GRCh37	Chromosome 4, 41263942: 41263942
8	UCHL1	NM_004181.4(UCHL1): c.459+2T> C	single nucleotide variant	Likely pathogenic	rs1554004931	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

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³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

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³⁹ LifeMap

⁴⁰ LncRNADisease

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⁴⁵ MeSH

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⁵⁶ Novoseek

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⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

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⁶⁷ Reactome

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⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Spastic Paraplegia 79, Autosomal Recessive (SPG79)

Aliases & Classifications for Spastic Paraplegia 79, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 79, Autosomal Recessive:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Spastic Paraplegia 79, Autosomal Recessive

Related Diseases for Spastic Paraplegia 79, Autosomal Recessive

Diseases in the Spastic Paraplegia 3a family:

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

Symptoms & Phenotypes for Spastic Paraplegia 79, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 79, Autosomal Recessive:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Spastic Paraplegia 79, Autosomal Recessive:

Drugs & Therapeutics for Spastic Paraplegia 79, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 79, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 79, Autosomal Recessive:

Anatomical Context for Spastic Paraplegia 79, Autosomal Recessive

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

Publications for Spastic Paraplegia 79, Autosomal Recessive

Articles related to Spastic Paraplegia 79, Autosomal Recessive:

Genes for Spastic Paraplegia 79, Autosomal Recessive

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

Variations for Spastic Paraplegia 79, Autosomal Recessive

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

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

Expression for Spastic Paraplegia 79, Autosomal Recessive

Pathways for Spastic Paraplegia 79, Autosomal Recessive

GO Terms for Spastic Paraplegia 79, Autosomal Recessive

Sources for Spastic Paraplegia 79, Autosomal Recessive