SPG77
MCID: SPS206
MIFTS: 27

Spastic Paraplegia 77, Autosomal Recessive (SPG77)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin 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 72 29 6
Spg77 57 12 58 72
Hereditary Spastic Paraplegia 77 12 15
Autosomal Recessive Spastic Paraplegia Type 77 58
Autosomal Recessive Spastic Paraplegia 77 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
spastic paraplegia 77, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Spastic Paraplegia 77, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 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, also known as spg77, is related to paraplegia. An important gene associated with Spastic Paraplegia 77, Autosomal Recessive is FARS2 (Phenylalanyl-TRNA Synthetase 2, Mitochondrial). Related phenotypes are progressive spastic paraplegia and dysarthria

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

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) (Updated 05-Apr-2021)

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, 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 Dominant
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
Spastic Paraplegia 81, Autosomal Recessive Spastic Paraplegia 82, Autosomal Recessive
Spastic Paraplegia 83, Autosomal Recessive Hereditary Spastic Paraplegia 23
Hereditary Spastic Paraplegia 30 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

Diseases related to Spastic Paraplegia 77, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 paraplegia 9.5 SPG11 FARS2

Symptoms & Phenotypes for Spastic Paraplegia 77, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 77, Autosomal Recessive:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive spastic paraplegia 58 31 obligate (100%) Obligate (100%) HP:0007020
2 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
3 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
4 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
5 progressive inability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0002505
6 intention tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002080
7 lower limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0007210
8 lower limb hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0002395
9 scissor gait 58 31 frequent (33%) Frequent (79-30%) HP:0012407
10 seizure 31 frequent (33%) HP:0001250
11 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
12 developmental regression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002376
13 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
14 feeding difficulties in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008872
15 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
16 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
17 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
18 retrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000278
19 kyphoscoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002751
20 insomnia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100785
21 poor head control 58 31 occasional (7.5%) Occasional (29-5%) HP:0002421
22 impaired mastication 58 31 occasional (7.5%) Occasional (29-5%) HP:0005216
23 muscular hypotonia of the trunk 58 31 occasional (7.5%) Occasional (29-5%) HP:0008936
24 urinary incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000020
25 neurogenic bladder 58 31 occasional (7.5%) Occasional (29-5%) HP:0000011
26 bilateral cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0008689
27 bradykinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002067
28 equinovarus deformity 58 31 occasional (7.5%) Occasional (29-5%) HP:0008110
29 sudden episodic apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002882
30 paroxysmal dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002268
31 neuromuscular dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002068
32 macrodontia of permanent maxillary central incisor 58 31 occasional (7.5%) Occasional (29-5%) HP:0000675
33 muscle abnormality related to mitochondrial dysfunction 58 31 occasional (7.5%) Occasional (29-5%) HP:0003800
34 detrusor sphincter dyssynergia 58 31 occasional (7.5%) Occasional (29-5%) HP:0025488
35 seizures 58 Frequent (79-30%)
36 hyperreflexia 31 HP:0001347
37 dystonia 58 Occasional (29-5%)
38 spastic paraplegia 31 HP:0001258
39 lower limb spasticity 58 Frequent (79-30%)
40 weakness due to upper motor neuron dysfunction 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
spastic paraplegia
extensor plantar responses
scissoring gait
pyramidal weakness, lower limbs

Muscle Soft Tissue:
lower limb amyotrophy

Clinical features from OMIM®:

617046 (Updated 05-Apr-2021)

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

Articles related to Spastic Paraplegia 77, Autosomal Recessive:

# Title Authors PMID Year
1
New insights into the phenotype of FARS2 deficiency. 57 6
29126765 2017
2
A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia. 6 57
26553276 2016
3
Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings. 6 57
25851414 2015
4
Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found. 61
32007496 2020

Variations for Spastic Paraplegia 77, Autosomal Recessive

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FARS2 NM_006567.5(FARS2):c.424G>T (p.Asp142Tyr) SNV Pathogenic 253159 rs145555213 GRCh37: 6:5369227-5369227
GRCh38: 6:5368994-5368994
2 FARS2 and overlap with 1 gene(s) NC_000006.11:g.5610223_5726369del Deletion Likely pathogenic 488357 GRCh37: 6:5610223-5726369
GRCh38: 6:5609990-5726136
3 FARS2 NM_006567.5(FARS2):c.476A>C (p.His159Pro) SNV Likely pathogenic 587653 rs1561990390 GRCh37: 6:5369279-5369279
GRCh38: 6:5369046-5369046
4 FARS2 NM_006567.5(FARS2):c.461C>T (p.Ala154Val) SNV Likely pathogenic 488360 rs749588235 GRCh37: 6:5369264-5369264
GRCh38: 6:5369031-5369031
5 FARS2 NM_006567.5(FARS2):c.1255C>T (p.Arg419Cys) SNV Likely pathogenic 214336 rs775690041 GRCh37: 6:5771561-5771561
GRCh38: 6:5771328-5771328
6 FARS2 NM_006567.5(FARS2):c.422G>A (p.Gly141Glu) SNV Uncertain significance 545657 rs755563264 GRCh37: 6:5369225-5369225
GRCh38: 6:5368992-5368992
7 FARS2 NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) SNV Uncertain significance 214335 rs751459058 GRCh37: 6:5613418-5613418
GRCh38: 6:5613185-5613185
8 FARS2 NM_006567.5(FARS2):c.515_517TGG[2] (p.Val174del) Microsatellite Uncertain significance 488362 rs1554169392 GRCh37: 6:5369318-5369320
GRCh38: 6:5369085-5369087
9 FARS2 NM_006567.5(FARS2):c.1057A>C (p.Lys353Gln) SNV Uncertain significance 640714 rs762302341 GRCh37: 6:5545565-5545565
GRCh38: 6:5545332-5545332
10 FARS2 NM_006567.5(FARS2):c.1004A>T (p.Glu335Val) SNV Uncertain significance 1031655 GRCh37: 6:5545512-5545512
GRCh38: 6:5545279-5545279

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

72
# Symbol AA change Variation ID SNP ID
1 FARS2 p.Asp142Tyr VAR_077044 rs145555213

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

3 CDC
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11 DGIdb
17 EFO
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30 HMDB
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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