MCID: SPS137
MIFTS: 33

Spastic Paraplegia 57, Autosomal Recessive

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

Aliases & Classifications for Spastic Paraplegia 57, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 57, Autosomal Recessive:

Name: Spastic Paraplegia 57, Autosomal Recessive 57 75 29 6 73
Spg57 57 12 59 75
Autosomal Recessive Spastic Paraplegia Type 57 12 59
Hereditary Spastic Paraplegia 57 12 15
Paraplegia, Spastic, Type 57, Autosomal Recessive 40
Spastic Paraplegia Due to Partial Tfg Deficiency 59
Autosomal Recessive Spastic Paraplegia 57 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic paraplegia type 57
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in first years of life
one family has been reported (last curated february 2014)


HPO:

32
spastic paraplegia 57, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615658
Disease Ontology 12 DOID:0110809
ICD10 33 G11.4 G82.1
Orphanet 59 ORPHA431329
ICD10 via Orphanet 34 G11.4
MeSH 44 D015419
UMLS 73 C3714897

Summaries for Spastic Paraplegia 57, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Spastic paraplegia 57, autosomal recessive: A complicated 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. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations.

MalaCards based summary : Spastic Paraplegia 57, Autosomal Recessive, also known as spg57, is related to hereditary spastic paraplegia and paraplegia, and has symptoms including unspecified visual loss An important gene associated with Spastic Paraplegia 57, Autosomal Recessive is TFG (TRK-Fused Gene). Affiliated tissues include eye, and related phenotypes are optic atrophy and abnormality of peripheral nerve conduction

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the TFG gene on chromosome 3q12.

Description from OMIM: 615658

Related Diseases for Spastic Paraplegia 57, 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 57, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 hereditary spastic paraplegia 27.2 ALS2 SACS SPG11 TFG
2 paraplegia 9.9
3 spasticity 9.9
4 hereditary motor and sensory neuropathy, type iic 9.8 SPG11 TFG
5 charcot-marie-tooth disease, axonal, type 2e 9.7 SPG11 TFG
6 spinocerebellar ataxia, autosomal recessive 1 9.5 ALS2 SACS
7 charcot-marie-tooth disease 9.5 SPG11 TFG
8 amyotrophic lateral sclerosis type 5 9.5 ALS2 SPG11
9 juvenile amyotrophic lateral sclerosis 9.4 ALS2 SPG11
10 lateral sclerosis 9.2 ALS2 SPG11
11 amyotrophic lateral sclerosis 1 8.9 ALS2 SPG11

Graphical network of the top 20 diseases related to Spastic Paraplegia 57, Autosomal Recessive:



Diseases related to Spastic Paraplegia 57, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 57, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
extensor plantar responses
inability to walk independently
normal early developmental milestones
spasticity, severe, affecting lower limbs

Muscle Soft Tissue:
muscle weakness and atrophy, upper and lower limbs

Neurologic Peripheral Nervous System:
axonal and demyelinating sensorimotor neuropathy
mild sensory impairment

Head And Neck Eyes:
optic atrophy
visual loss

Skeletal Limbs:
contractures of the lower limbs


Clinical features from OMIM:

615658

Human phenotypes related to Spastic Paraplegia 57, Autosomal Recessive:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
2 abnormality of peripheral nerve conduction 59 32 obligate (100%) Obligate (100%) HP:0003134
3 babinski sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003487
4 inability to walk 59 32 hallmark (90%) Very frequent (99-80%) HP:0002540
5 spastic paraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001258
6 sensorimotor neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0007141
7 abnormal myelination 59 32 hallmark (90%) Very frequent (99-80%) HP:0012447
8 difficulty climbing stairs 59 32 obligate (100%) Obligate (100%) HP:0003551
9 abnormality of the achilles tendon 59 32 hallmark (90%) Very frequent (99-80%) HP:0005109
10 distal lower limb amyotrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008944
11 difficulty standing 59 32 obligate (100%) Obligate (100%) HP:0003698
12 motor polyneuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0007178
13 spasticity 59 Very frequent (99-80%)
14 hyperreflexia 32 HP:0001347
15 peripheral neuropathy 59 Very frequent (99-80%)
16 visual loss 32 HP:0000572

UMLS symptoms related to Spastic Paraplegia 57, Autosomal Recessive:


unspecified visual loss

GenomeRNAi Phenotypes related to Spastic Paraplegia 57, Autosomal Recessive according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-103 9.85 SACS
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.85 SACS
3 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.85 SACS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.85 SACS TFG
5 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.85 TFG
6 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.85 SACS
7 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.85 SACS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.85 SACS
9 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.85 TFG
10 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.85 TFG
11 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.85 SACS
12 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.85 SACS TFG
13 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.85 TFG
14 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.85 TFG
15 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.85 SACS

Drugs & Therapeutics for Spastic Paraplegia 57, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 57, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 57, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 57, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 57, Autosomal Recessive 29 TFG

Anatomical Context for Spastic Paraplegia 57, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 57, Autosomal Recessive:

41
Eye

Publications for Spastic Paraplegia 57, Autosomal Recessive

Variations for Spastic Paraplegia 57, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 57, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 TFG p.Arg106Cys VAR_070986 rs587777175
2 TFG p.Arg106His VAR_078075 rs376971794

ClinVar genetic disease variations for Spastic Paraplegia 57, Autosomal Recessive:

6
(show top 50) (show all 59)
# Gene Variation Type Significance SNP ID Assembly Location
1 TFG NM_006070.5(TFG): c.854C> T (p.Pro285Leu) single nucleotide variant Pathogenic rs207482230 GRCh37 Chromosome 3, 100467026: 100467026
2 TFG NM_006070.5(TFG): c.854C> T (p.Pro285Leu) single nucleotide variant Pathogenic rs207482230 GRCh38 Chromosome 3, 100748182: 100748182
3 TFG NM_001007565.2(TFG): c.316C> T (p.Arg106Cys) single nucleotide variant Pathogenic rs587777175 GRCh37 Chromosome 3, 100447603: 100447603
4 TFG NM_001007565.2(TFG): c.316C> T (p.Arg106Cys) single nucleotide variant Pathogenic rs587777175 GRCh38 Chromosome 3, 100728759: 100728759
5 TFG NM_006070.5(TFG): c.1060C> G (p.Pro354Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs111356679 GRCh37 Chromosome 3, 100467232: 100467232
6 TFG NM_006070.5(TFG): c.1060C> G (p.Pro354Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs111356679 GRCh38 Chromosome 3, 100748388: 100748388
7 TFG NM_006070.5(TFG): c.258G> T (p.Leu86=) single nucleotide variant Benign/Likely benign rs150620449 GRCh37 Chromosome 3, 100438892: 100438892
8 TFG NM_006070.5(TFG): c.258G> T (p.Leu86=) single nucleotide variant Benign/Likely benign rs150620449 GRCh38 Chromosome 3, 100720048: 100720048
9 TFG NM_006070.5(TFG): c.663C> A (p.Gly221=) single nucleotide variant Benign rs140669729 GRCh37 Chromosome 3, 100455502: 100455502
10 TFG NM_006070.5(TFG): c.663C> A (p.Gly221=) single nucleotide variant Benign rs140669729 GRCh38 Chromosome 3, 100736658: 100736658
11 TFG NM_006070.5(TFG): c.722-8G> T single nucleotide variant Benign rs41272979 GRCh37 Chromosome 3, 100463669: 100463669
12 TFG NM_006070.5(TFG): c.722-8G> T single nucleotide variant Benign rs41272979 GRCh38 Chromosome 3, 100744825: 100744825
13 TFG NM_006070.5(TFG): c.945G> A (p.Pro315=) single nucleotide variant Benign rs61736338 GRCh37 Chromosome 3, 100467117: 100467117
14 TFG NM_006070.5(TFG): c.945G> A (p.Pro315=) single nucleotide variant Benign rs61736338 GRCh38 Chromosome 3, 100748273: 100748273
15 TFG NM_006070.5(TFG): c.416-9T> C single nucleotide variant Benign rs115896544 GRCh37 Chromosome 3, 100451343: 100451343
16 TFG NM_006070.5(TFG): c.416-9T> C single nucleotide variant Benign rs115896544 GRCh38 Chromosome 3, 100732499: 100732499
17 TFG NM_006070.5(TFG): c.552G> A (p.Ala184=) single nucleotide variant Benign rs35648279 GRCh37 Chromosome 3, 100451488: 100451488
18 TFG NM_006070.5(TFG): c.552G> A (p.Ala184=) single nucleotide variant Benign rs35648279 GRCh38 Chromosome 3, 100732644: 100732644
19 TFG NM_006070.5(TFG): c.391C> T (p.Pro131Ser) single nucleotide variant Uncertain significance rs770053266 GRCh38 Chromosome 3, 100728834: 100728834
20 TFG NM_006070.5(TFG): c.391C> T (p.Pro131Ser) single nucleotide variant Uncertain significance rs770053266 GRCh37 Chromosome 3, 100447678: 100447678
21 TFG NM_006070.5(TFG): c.594T> G (p.Ala198=) single nucleotide variant Benign rs12562 GRCh38 Chromosome 3, 100736589: 100736589
22 TFG NM_006070.5(TFG): c.594T> G (p.Ala198=) single nucleotide variant Benign rs12562 GRCh37 Chromosome 3, 100455433: 100455433
23 TFG NM_006070.5(TFG): c.1014T> G (p.Asn338Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 100748342: 100748342
24 TFG NM_006070.5(TFG): c.1014T> G (p.Asn338Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 100467186: 100467186
25 TFG NM_006070.5(TFG): c.415+7C> G single nucleotide variant Benign rs149927288 GRCh38 Chromosome 3, 100728865: 100728865
26 TFG NM_006070.5(TFG): c.415+7C> G single nucleotide variant Benign rs149927288 GRCh37 Chromosome 3, 100447709: 100447709
27 TFG NM_006070.5(TFG): c.980A> G (p.Gln327Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 100467152: 100467152
28 TFG NM_006070.5(TFG): c.980A> G (p.Gln327Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 100748308: 100748308
29 TFG NM_006070.5(TFG): c.1070A> G (p.Tyr357Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 100467242: 100467242
30 TFG NM_006070.5(TFG): c.1070A> G (p.Tyr357Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 100748398: 100748398
31 TFG NM_006070.5(TFG): c.225C> G (p.Ser75=) single nucleotide variant Likely benign rs747353898 GRCh38 Chromosome 3, 100720015: 100720015
32 TFG NM_006070.5(TFG): c.225C> G (p.Ser75=) single nucleotide variant Likely benign rs747353898 GRCh37 Chromosome 3, 100438859: 100438859
33 TFG NM_006070.5(TFG): c.988A> G (p.Thr330Ala) single nucleotide variant Likely benign rs145835282 GRCh38 Chromosome 3, 100748316: 100748316
34 TFG NM_006070.5(TFG): c.988A> G (p.Thr330Ala) single nucleotide variant Likely benign rs145835282 GRCh37 Chromosome 3, 100467160: 100467160
35 TFG NC_000003.12: g.(?_100713666)_(100720078_?)dup duplication Likely benign GRCh38 Chromosome 3, 100713666: 100720078
36 TFG NM_006070.5(TFG): c.185-10T> A single nucleotide variant Likely benign rs79631225 GRCh38 Chromosome 3, 100719965: 100719965
37 TFG NM_006070.5(TFG): c.185-10T> A single nucleotide variant Likely benign rs79631225 GRCh37 Chromosome 3, 100438809: 100438809
38 TFG NM_006070.5(TFG): c.185-10T> C single nucleotide variant Benign rs79631225 GRCh38 Chromosome 3, 100719965: 100719965
39 TFG NM_006070.5(TFG): c.185-10T> C single nucleotide variant Benign rs79631225 GRCh37 Chromosome 3, 100438809: 100438809
40 TFG NM_006070.5(TFG): c.1090A> C (p.Thr364Pro) single nucleotide variant Benign rs6772054 GRCh38 Chromosome 3, 100748418: 100748418
41 TFG NM_006070.5(TFG): c.1090A> C (p.Thr364Pro) single nucleotide variant Benign rs6772054 GRCh37 Chromosome 3, 100467262: 100467262
42 TFG NM_006070.5(TFG): c.944C> T (p.Pro315Leu) single nucleotide variant Uncertain significance rs753375115 GRCh37 Chromosome 3, 100467116: 100467116
43 TFG NM_006070.5(TFG): c.944C> T (p.Pro315Leu) single nucleotide variant Uncertain significance rs753375115 GRCh38 Chromosome 3, 100748272: 100748272
44 TFG NM_006070.5(TFG): c.309A> G (p.Lys103=) single nucleotide variant Uncertain significance rs369508900 GRCh37 Chromosome 3, 100447596: 100447596
45 TFG NM_006070.5(TFG): c.309A> G (p.Lys103=) single nucleotide variant Uncertain significance rs369508900 GRCh38 Chromosome 3, 100728752: 100728752
46 TFG NM_006070.5(TFG): c.672A> C (p.Pro224=) single nucleotide variant Likely benign rs141412018 GRCh37 Chromosome 3, 100455511: 100455511
47 TFG NM_006070.5(TFG): c.672A> C (p.Pro224=) single nucleotide variant Likely benign rs141412018 GRCh38 Chromosome 3, 100736667: 100736667
48 TFG NM_006070.5(TFG): c.1094C> T (p.Ser365Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 100467266: 100467266
49 TFG NM_006070.5(TFG): c.1094C> T (p.Ser365Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 100748422: 100748422
50 TFG NM_006070.5(TFG): c.1123C> G (p.Pro375Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 100467295: 100467295

Expression for Spastic Paraplegia 57, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 57, Autosomal Recessive.

Pathways for Spastic Paraplegia 57, Autosomal Recessive

GO Terms for Spastic Paraplegia 57, Autosomal Recessive

Cellular components related to Spastic Paraplegia 57, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.13 ALS2 SACS SPG11
2 axon GO:0030424 8.8 ALS2 SACS SPG11

Sources for Spastic Paraplegia 57, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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54 NINDS
55 Novoseek
57 OMIM
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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