MCID: SPS206
MIFTS: 22

Spastic Paraplegia 77, Autosomal Recessive

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

Aliases & Classifications for Spastic Paraplegia 77, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 77, Autosomal Recessive:

Name: Spastic Paraplegia 77, Autosomal Recessive 57 75 29 6
Spg77 57 12 59 75
Autosomal Recessive Spastic Paraplegia Type 77 59
Autosomal Recessive Spastic Paraplegia 77 12
Hereditary Spastic Paraplegia 77 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in the first 5 years of life
slowly progressive
one consanguineous chinese family has been reported (last curated july 2016)


HPO:

32
spastic paraplegia 77, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 617046
Disease Ontology 12 DOID:0110822
ICD10 33 G11.4
Orphanet 59 ORPHA466722
ICD10 via Orphanet 34 G11.4
MeSH 44 D015419

Summaries for Spastic Paraplegia 77, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Spastic paraplegia 77, 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.

MalaCards based summary : Spastic Paraplegia 77, Autosomal Recessive, is also known as spg77. An important gene associated with Spastic Paraplegia 77, Autosomal Recessive is FARS2 (Phenylalanyl-TRNA Synthetase 2, Mitochondrial). Related phenotypes are spastic paraplegia and hyperreflexia

OMIM : 57 Spastic paraplegia-77 is an autosomal recessive neurologic disorder characterized by early-childhood onset of spasticity affecting the lower limbs and resulting in gait difficulties. The disorder is progressive and may be associated with childhood seizures, developmental delay, and mitochondrial dysfunction (Yang et al., 2016; Vernon et al., 2015; Vantroys et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). (617046)

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the FARS2 gene on chromosome 6p25.

Related Diseases for Spastic Paraplegia 77, 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

Symptoms & Phenotypes for Spastic Paraplegia 77, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
lower limb amyotrophy

Neurologic Central Nervous System:
spastic paraplegia
pyramidal weakness, lower limbs
scissoring gait
hyperreflexia
extensor plantar responses


Clinical features from OMIM:

617046

Human phenotypes related to Spastic Paraplegia 77, Autosomal Recessive:

32
# Description HPO Frequency HPO Source Accession
1 spastic paraplegia 32 HP:0001258
2 hyperreflexia 32 HP:0001347
3 babinski sign 32 HP:0003487
4 lower limb amyotrophy 32 HP:0007210

Drugs & Therapeutics for Spastic Paraplegia 77, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 77, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 77, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 77, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 77, Autosomal Recessive 29 FARS2

Anatomical Context for Spastic Paraplegia 77, Autosomal Recessive

Publications for Spastic Paraplegia 77, Autosomal Recessive

Variations for Spastic Paraplegia 77, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 77, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 FARS2 p.Asp142Tyr VAR_077044 rs145555213

ClinVar genetic disease variations for Spastic Paraplegia 77, Autosomal Recessive:

6
(show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 FARS2 NM_006567.4(FARS2): c.1082C> T (p.Pro361Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs751459058 GRCh37 Chromosome 6, 5613418: 5613418
2 FARS2 NM_006567.4(FARS2): c.1082C> T (p.Pro361Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs751459058 GRCh38 Chromosome 6, 5613185: 5613185
3 FARS2 NM_006567.4(FARS2): c.1255C> T (p.Arg419Cys) single nucleotide variant Likely pathogenic rs775690041 GRCh37 Chromosome 6, 5771561: 5771561
4 FARS2 NM_006567.4(FARS2): c.1255C> T (p.Arg419Cys) single nucleotide variant Likely pathogenic rs775690041 GRCh38 Chromosome 6, 5771328: 5771328
5 FARS2 NM_006567.4(FARS2): c.424G> T (p.Asp142Tyr) single nucleotide variant Pathogenic rs145555213 GRCh38 Chromosome 6, 5368994: 5368994
6 FARS2 NM_006567.4(FARS2): c.424G> T (p.Asp142Tyr) single nucleotide variant Pathogenic rs145555213 GRCh37 Chromosome 6, 5369227: 5369227
7 FARS2 NC_000006.11: g.5610223_5726369del116147 deletion Pathogenic GRCh37 Chromosome 6, 5610223: 5726369
8 FARS2 NM_006567.4(FARS2): c.461C> T (p.Ala154Val) single nucleotide variant Pathogenic rs749588235 GRCh37 Chromosome 6, 5369264: 5369264
9 FARS2 NM_006567.4(FARS2): c.461C> T (p.Ala154Val) single nucleotide variant Pathogenic rs749588235 GRCh38 Chromosome 6, 5369031: 5369031
10 FARS2 NM_006567.4(FARS2): c.521_523delTGG (p.Val174del) deletion Pathogenic GRCh37 Chromosome 6, 5369324: 5369326
11 FARS2 NM_006567.4(FARS2): c.521_523delTGG (p.Val174del) deletion Pathogenic GRCh38 Chromosome 6, 5369091: 5369093

Expression for Spastic Paraplegia 77, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 77, Autosomal Recessive.

Pathways for Spastic Paraplegia 77, Autosomal Recessive

GO Terms for Spastic Paraplegia 77, Autosomal Recessive

Sources for Spastic Paraplegia 77, Autosomal Recessive

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62 PubMed
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69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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