SPG57
MCID: SPS137
MIFTS: 35

Spastic Paraplegia 57, Autosomal Recessive (SPG57)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin 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 74 29 6 72
Spg57 57 12 59 74
Autosomal Recessive Spastic Paraplegia Type 57 12 59 17
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:

Disease Ontology 12 DOID:0110809
MeSH 44 D015419
ICD10 33 G11.4
ICD10 via Orphanet 34 G11.4
Orphanet 59 ORPHA431329
UMLS 72 C3714897

Summaries for Spastic Paraplegia 57, Autosomal Recessive

UniProtKB/Swiss-Prot : 74 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 spastic paraplegia 3, autosomal dominant and spastic paraplegia 11, autosomal recessive, and has symptoms including unspecified visual loss An important gene associated with Spastic Paraplegia 57, Autosomal Recessive is TFG (Trafficking From ER To Golgi Regulator). Affiliated tissues include eye, and related phenotypes are abnormality of peripheral nerve conduction and difficulty climbing stairs

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

More information from OMIM: 615658 PS303350

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, 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 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 47
Spastic Paraplegia 51 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 57, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 3, autosomal dominant 10.2
2 spastic paraplegia 11, autosomal recessive 10.2
3 motor neuron disease 10.2
4 spastic paraplegia 3a 10.2
5 hereditary motor and sensory neuropathy, type iic 9.6 TFG SPG11
6 amyotrophic lateral sclerosis type 5 9.5 SPG11 ALS2
7 lateral sclerosis 9.5 SPG11 ALS2
8 charcot-marie-tooth disease, axonal, type 2e 9.5 TFG SPG11
9 juvenile amyotrophic lateral sclerosis 9.4 SPG11 ALS2
10 charcot-marie-tooth disease 9.4 TFG SPG11
11 amyotrophic lateral sclerosis 1 9.1 SPG11 ALS2
12 hereditary spastic paraplegia 8.6 TFG SPG11 SACS ALS2

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

Human phenotypes related to Spastic Paraplegia 57, Autosomal Recessive:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of peripheral nerve conduction 59 32 obligate (100%) Obligate (100%) HP:0003134
2 difficulty climbing stairs 59 32 obligate (100%) Obligate (100%) HP:0003551
3 difficulty standing 59 32 obligate (100%) Obligate (100%) HP:0003698
4 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
5 babinski sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003487
6 inability to walk 59 32 hallmark (90%) Very frequent (99-80%) HP:0002540
7 spastic paraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001258
8 sensorimotor neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0007141
9 abnormal myelination 59 32 hallmark (90%) Very frequent (99-80%) HP:0012447
10 abnormality of the achilles tendon 59 32 hallmark (90%) Very frequent (99-80%) HP:0005109
11 distal lower limb amyotrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008944
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
17 sensory impairment 32 HP:0003474

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

UMLS symptoms related to Spastic Paraplegia 57, Autosomal Recessive:


unspecified visual loss

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

Articles related to Spastic Paraplegia 57, Autosomal Recessive:

# Title Authors PMID Year
1
Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure. 8 71
23479643 2013
2
Hereditary Spastic Paraplegia Overview 71
20301682 2000
3
A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy. 38
30467354 2019
4
Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan. 38
27601211 2016

Variations for Spastic Paraplegia 57, Autosomal Recessive

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

6 (show top 50) (show all 52)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TFG NM_001007565.2(TFG): c.854C> T (p.Pro285Leu) single nucleotide variant Pathogenic rs207482230 3:100467026-100467026 3:100748182-100748182
2 TFG NM_001007565.2(TFG): c.316C> T (p.Arg106Cys) single nucleotide variant Pathogenic rs587777175 3:100447603-100447603 3:100728759-100728759
3 TFG NM_001007565.2(TFG): c.1060C> G (p.Pro354Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs111356679 3:100467232-100467232 3:100748388-100748388
4 TFG NM_001007565.2(TFG): c.68G> A (p.Arg23Gln) single nucleotide variant Uncertain significance 3:100432597-100432597 3:100713753-100713753
5 TFG NM_001007565.2(TFG): c.98A> G (p.Tyr33Cys) single nucleotide variant Uncertain significance 3:100432627-100432627 3:100713783-100713783
6 TFG NM_001007565.2(TFG): c.310T> C (p.Tyr104His) single nucleotide variant Uncertain significance 3:100447597-100447597 3:100728753-100728753
7 TFG NM_001007565.2(TFG): c.716T> C (p.Ile239Thr) single nucleotide variant Uncertain significance 3:100455555-100455555 3:100736711-100736711
8 TFG NM_001007565.2(TFG): c.740A> G (p.Tyr247Cys) single nucleotide variant Uncertain significance 3:100463695-100463695 3:100744851-100744851
9 TFG NM_001007565.2(TFG): c.826T> C (p.Tyr276His) single nucleotide variant Uncertain significance 3:100466998-100466998 3:100748154-100748154
10 TFG NM_001007565.2(TFG): c.852A> C (p.Gln284His) single nucleotide variant Uncertain significance 3:100467024-100467024 3:100748180-100748180
11 TFG NM_001007565.2(TFG): c.882A> C (p.Gln294His) single nucleotide variant Uncertain significance 3:100467054-100467054 3:100748210-100748210
12 TFG NM_001007565.2(TFG): c.1199G> A (p.Arg400Gln) single nucleotide variant Uncertain significance 3:100467371-100467371 3:100748527-100748527
13 TFG NM_001007565.2(TFG): c.237G> T (p.Gln79His) single nucleotide variant Uncertain significance 3:100438871-100438871 3:100720027-100720027
14 TFG NM_001007565.2(TFG): c.290T> A (p.Leu97His) single nucleotide variant Uncertain significance 3:100447577-100447577 3:100728733-100728733
15 TFG NM_001007565.2(TFG): c.458C> T (p.Ser153Phe) single nucleotide variant Uncertain significance 3:100451394-100451394 3:100732550-100732550
16 TFG NM_001007565.2(TFG): c.482T> C (p.Met161Thr) single nucleotide variant Uncertain significance 3:100451418-100451418 3:100732574-100732574
17 TFG NM_001007565.2(TFG): c.545T> C (p.Met182Thr) single nucleotide variant Uncertain significance 3:100451481-100451481 3:100732637-100732637
18 TFG NM_001007565.2(TFG): c.743A> G (p.Gln248Arg) single nucleotide variant Uncertain significance 3:100463698-100463698 3:100744854-100744854
19 TFG NM_001007565.2(TFG): c.754G> A (p.Gly252Ser) single nucleotide variant Uncertain significance 3:100463709-100463709 3:100744865-100744865
20 TFG NM_001007565.2(TFG): c.792G> T (p.Gln264His) single nucleotide variant Uncertain significance 3:100463747-100463747 3:100744903-100744903
21 TFG NM_001007565.2(TFG): c.898C> T (p.Pro300Ser) single nucleotide variant Uncertain significance 3:100467070-100467070 3:100748226-100748226
22 TFG NM_001007565.2(TFG): c.1030G> A (p.Ala344Thr) single nucleotide variant Uncertain significance 3:100467202-100467202 3:100748358-100748358
23 TFG NM_001007565.2(TFG): c.1036C> T (p.Gln346Ter) single nucleotide variant Uncertain significance 3:100467208-100467208 3:100748364-100748364
24 TFG NM_001007565.2(TFG): c.1165G> C (p.Gly389Arg) single nucleotide variant Uncertain significance 3:100467337-100467337 3:100748493-100748493
25 TFG NM_001007565.2(TFG): c.391C> T (p.Pro131Ser) single nucleotide variant Uncertain significance rs770053266 3:100447678-100447678 3:100728834-100728834
26 TFG NM_001007565.2(TFG): c.1014T> G (p.Asn338Lys) single nucleotide variant Uncertain significance rs1553704923 3:100467186-100467186 3:100748342-100748342
27 TFG NM_001007565.2(TFG): c.980A> G (p.Gln327Arg) single nucleotide variant Uncertain significance rs1431898500 3:100467152-100467152 3:100748308-100748308
28 TFG NM_001007565.2(TFG): c.1070A> G (p.Tyr357Cys) single nucleotide variant Uncertain significance rs1375662436 3:100467242-100467242 3:100748398-100748398
29 TFG NM_001007565.2(TFG): c.1006C> T (p.Pro336Ser) single nucleotide variant Uncertain significance rs371681149 3:100467178-100467178 3:100748334-100748334
30 TFG NM_001007565.2(TFG): c.944C> T (p.Pro315Leu) single nucleotide variant Uncertain significance rs753375115 3:100467116-100467116 3:100748272-100748272
31 TFG NM_001007565.2(TFG): c.309A> G (p.Lys103=) single nucleotide variant Uncertain significance rs369508900 3:100447596-100447596 3:100728752-100728752
32 TFG NM_001007565.2(TFG): c.1094C> T (p.Ser365Leu) single nucleotide variant Uncertain significance rs1288104441 3:100467266-100467266 3:100748422-100748422
33 TFG NM_001007565.2(TFG): c.1123C> G (p.Pro375Ala) single nucleotide variant Uncertain significance rs1234073129 3:100467295-100467295 3:100748451-100748451
34 TFG NM_001007565.2(TFG): c.1145C> T (p.Ala382Val) single nucleotide variant Uncertain significance rs138185005 3:100467317-100467317 3:100748473-100748473
35 TFG NM_001007565.2(TFG): c.483G> A (p.Met161Ile) single nucleotide variant Uncertain significance rs750964585 3:100451419-100451419 3:100732575-100732575
36 TFG NM_001007565.2(TFG): c.1157C> T (p.Pro386Leu) single nucleotide variant Uncertain significance rs766049461 3:100467329-100467329 3:100748485-100748485
37 TFG NM_001007565.2(TFG): c.943C> T (p.Pro315Ser) single nucleotide variant Uncertain significance rs1553704852 3:100467115-100467115 3:100748271-100748271
38 TFG NM_001007565.2(TFG): c.672A> C (p.Pro224=) single nucleotide variant Likely benign rs141412018 3:100455511-100455511 3:100736667-100736667
39 TFG NM_001007565.2(TFG): c.225C> G (p.Ser75=) single nucleotide variant Likely benign rs747353898 3:100438859-100438859 3:100720015-100720015
40 TFG NM_001007565.2(TFG): c.988A> G (p.Thr330Ala) single nucleotide variant Likely benign rs145835282 3:100467160-100467160 3:100748316-100748316
41 TFG duplication Likely benign
42 TFG NM_001007565.2(TFG): c.185-10T> A single nucleotide variant Likely benign rs79631225 3:100438809-100438809 3:100719965-100719965
43 TFG NM_001007565.2(TFG): c.258G> T (p.Leu86=) single nucleotide variant Benign/Likely benign rs150620449 3:100438892-100438892 3:100720048-100720048
44 TFG NM_001007565.2(TFG): c.663C> A (p.Gly221=) single nucleotide variant Benign rs140669729 3:100455502-100455502 3:100736658-100736658
45 TFG NM_001007565.2(TFG): c.722-8G> T single nucleotide variant Benign rs41272979 3:100463669-100463669 3:100744825-100744825
46 TFG NM_001007565.2(TFG): c.945G> A (p.Pro315=) single nucleotide variant Benign rs61736338 3:100467117-100467117 3:100748273-100748273
47 TFG NM_001007565.2(TFG): c.416-9T> C single nucleotide variant Benign rs115896544 3:100451343-100451343 3:100732499-100732499
48 TFG NM_001007565.2(TFG): c.552G> A (p.Ala184=) single nucleotide variant Benign rs35648279 3:100451488-100451488 3:100732644-100732644
49 TFG NM_001007565.2(TFG): c.415+7C> G single nucleotide variant Benign rs149927288 3:100447709-100447709 3:100728865-100728865
50 TFG NM_001007565.2(TFG): c.594T> G (p.Ala198=) single nucleotide variant Benign rs12562 3:100455433-100455433 3:100736589-100736589

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

74
# Symbol AA change Variation ID SNP ID
1 TFG p.Arg106Cys VAR_070986 rs587777175
2 TFG p.Arg106His VAR_078075 rs376971794

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 SPG11 SACS ALS2
2 axon GO:0030424 8.8 SPG11 SACS ALS2

Sources for Spastic Paraplegia 57, Autosomal Recessive

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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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