MCID: SPS205
MIFTS: 28

Spastic Paraplegia 79, Autosomal Recessive

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Rare diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic diseases

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:



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)

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

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

Drugs & Therapeutics for Spastic Paraplegia 79, Autosomal Recessive

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

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

Anatomical Context for Spastic Paraplegia 79, Autosomal Recessive

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

41
Eye

Publications for Spastic Paraplegia 79, Autosomal Recessive

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

Expression for Spastic Paraplegia 79, Autosomal Recessive

Search GEO for disease gene expression data 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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