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 ⁵⁶ ⁷³ ²⁹ ⁶

Neurodegeneration with Optic Atrophy, Childhood-Onset ⁵⁶ ⁷³ ⁷¹

Spg79 ⁵⁶ ⁷³

Ndgoa ⁵⁶ ⁷³

Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome ⁵⁸

Neurodegeneration with Optic Atrophy, Childhood-Onset; Ndgoa ⁵⁶

Neurodegeneration, with Optic Atrophy, Childhood-Onset ³⁹

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

Inheritance:
autosomal recessive

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

HPO:

³¹

spastic paraplegia 79, autosomal recessive:
Inheritance autosomal recessive 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)

ICD10: ³³

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: ⁵⁸

Rare neurological diseases

Rare eye diseases

External Ids:

OMIM ⁵⁶ 615491

OMIM Phenotypic Series ⁵⁶ PS303350

MeSH ⁴³ D015418

ICD10 via Orphanet ³³ G31.8

Orphanet ⁵⁸ ORPHA352654

MedGen ⁴¹ C3809665

UMLS ⁷¹ C3809665

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Summaries for Spastic Paraplegia 79, Autosomal Recessive

UniProtKB/Swiss-Prot : ⁷³ 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, is also known as neurodegeneration with optic atrophy, childhood-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, bone and skin, and related phenotypes are myotonia and intention tremor

OMIM : ⁵⁶ 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 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

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Symptoms & Phenotypes for Spastic Paraplegia 79, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 79, Autosomal Recessive:

³¹ (show all 21)

#	Description	HPO Frequency	HPO Source Accession
1	myotonia ³¹	occasional (7.5%)	HP:0002486
2	intention tremor ³¹	occasional (7.5%)	HP:0002080
3	nystagmus ³¹		HP:0000639
4	pes planus ³¹		HP:0001763
5	optic atrophy ³¹		HP:0000648
6	flexion contracture ³¹		HP:0001371
7	progressive visual loss ³¹		HP:0000529
8	myopia ³¹		HP:0000545
9	babinski sign ³¹		HP:0003487
10	dysmetria ³¹		HP:0001310
11	pes cavus ³¹		HP:0001761
12	neurodegeneration ³¹		HP:0002180
13	fasciculations ³¹		HP:0002380
14	spastic paraplegia ³¹		HP:0001258
15	cerebellar atrophy ³¹		HP:0001272
16	sensorimotor neuropathy ³¹		HP:0007141
17	ankle clonus ³¹		HP:0011448
18	cerebral atrophy ³¹		HP:0002059
19	tetraparesis ³¹		HP:0002273
20	myokymia ³¹		HP:0002411
21	head titubation ³¹		HP:0002599

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

Head And Neck Eyes:
nystagmus
optic atrophy
myopia
visual loss, progressive
normal electroretinogram
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 ²⁹	UCHL1

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Anatomical Context for Spastic Paraplegia 79, Autosomal Recessive

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

⁴⁰

Eye, Bone, Skin

Sources

Publications for Spastic Paraplegia 79, Autosomal Recessive

Articles related to Spastic Paraplegia 79, Autosomal Recessive:

#	Title	Authors	PMID	Year
1	Novel UCHL1 mutations reveal new insights into ubiquitin processing. ⁵⁶ ⁶	Rydning SL...Selmer KK	28007905	2017
2	Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. ⁵⁶ ⁶	Bilguvar K...Gunel M	23359680	2013
3	Gracile axonal dystrophy (GAD), a new neurological mutant in the mouse. ⁵⁶ ⁶	Yamazaki K...Ando K	3340629	1988
4	Spastic paraparesis associated with optic atrophy in monozygotic twins. ⁵⁶ ⁶	Nyberg-Hansen R...Refsum S	4514348	1972
5	Hereditary Spastic Paraplegia Overview ⁶	Hedera P	20301682	2000
6	Intragenic deletion in the gene encoding ubiquitin carboxy-terminal hydrolase in gad mice. ⁵⁶	Saigoh K...Wada K	10471497	1999
7	Mapping of the gracile axonal dystrophy (gad) gene to a region between D5Mit197 and D5Mit113 on proximal mouse chromosome 5. ⁵⁶	Suh JG...Wada K	7558041	1995
8	Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79. ⁶¹	Das Bhowmik A...Dalal A	29735986	2018

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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	1668.61	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	4514348 28007905 23359680 (more) 3340629

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Variations for Spastic Paraplegia 79, Autosomal Recessive

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

⁶ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	UCHL1	NM_004181.5(UCHL1):c.20A>C (p.Glu7Ala)	SNV	Pathogenic	88635	rs397515634	4:41259013-41259013	4:41256996-41256996
2	UCHL1	NM_004181.5(UCHL1):c.533G>A (p.Arg178Gln)	SNV	Pathogenic	375649	rs768996179	4:41266126-41266126	4:41264109-41264109
3	UCHL1	NM_004181.5(UCHL1):c.647C>A (p.Ala216Asp)	SNV	Pathogenic	375650	rs1057519600	4:41270065-41270065	4:41268048-41268048
4	UCHL1	NM_004181.5(UCHL1):c.459+2T>C	SNV	Likely pathogenic	522605	rs1554004931	4:41263942-41263942	4:41261925-41261925

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

⁷³

#	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

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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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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 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:

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

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

UniProtKB/Swiss-Prot 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