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SPG57
MCID: SPS137
MIFTS: 40

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
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Spastic Paraplegia 57, Autosomal Recessive

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MalaCards integrated aliases for Spastic Paraplegia 57, Autosomal Recessive:

Name: Spastic Paraplegia 57, Autosomal Recessive 56 73 29 6 71
Spg57 56 12 58 73
Autosomal Recessive Spastic Paraplegia Type 57 12 58 17
Hereditary Spastic Paraplegia 57 12 15
Paraplegia, Spastic, Type 57, Autosomal Recessive 39
Spastic Paraplegia Due to Partial Tfg Deficiency 58
Autosomal Recessive Spastic Paraplegia 57 12

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic paraplegia type 57
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
spastic paraplegia 57, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Gastrointestinal diseases Skin diseases Respiratory diseases Bone diseases Nephrological diseases Ear diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare neurological diseases
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0110809
OMIM 56 615658
OMIM Phenotypic Series 56 PS303350
MeSH 43 D015419
ICD10 32 G11.4
ICD10 via Orphanet 33 G11.4
Orphanet 58 ORPHA431329
UMLS 71 C3714897
Sources

Summaries for Spastic Paraplegia 57, Autosomal Recessive

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UniProtKB/Swiss-Prot : 73 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 61, 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
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Related Diseases for Spastic Paraplegia 57, Autosomal Recessive

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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
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 57, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 3, autosomal dominant 30.3 SPG11 REEP1
2 spastic paraplegia 61, autosomal recessive 10.3 SPG11 REEP1
3 spastic paraplegia 47, autosomal recessive 10.3 SPG11 REEP1
4 spastic paraplegia 33, autosomal dominant 10.2 SPG11 REEP1
5 spastic paraplegia 37, autosomal dominant 10.2 REEP1 ERLIN2
6 spastic paraplegia 54, autosomal recessive 10.2 SPG11 REEP1
7 spastic paraplegia 44, autosomal recessive 10.2 SPG11 ERLIN2
8 spastic paraplegia 5a, autosomal recessive 10.2 SPG11 KIF5A
9 pure hereditary spastic paraplegia 10.2 KIF5A ERLIN2
10 spastic paraplegia 11, autosomal recessive 10.2
11 motor neuron disease 10.2
12 spastic paraplegia 3a 10.2
13 spastic paraplegia 43, autosomal recessive 10.2 SPG11 ERLIN2
14 spastic paraplegia 26, autosomal recessive 10.2 SPG11 REEP1
15 spastic paraplegia 35, autosomal recessive 10.1 SPG11 REEP1
16 amyotrophic lateral sclerosis type 15 10.1 SPG11 ALS2
17 spinal muscular atrophy, distal, autosomal recessive, 4 10.1 SPG11 ALS2
18 amyotrophic lateral sclerosis type 14 10.1 SPG11 ALS2
19 amyotrophic lateral sclerosis 7 10.1 SPG11 ALS2
20 amyotrophic lateral sclerosis 20 10.1 SPG11 ALS2
21 distal hereditary motor neuronopathy type 7 10.1 REEP1 ALS2
22 amyotrophic lateral sclerosis 17 10.0 SPG11 ALS2
23 hereditary spastic paraplegia 72 10.0 SPG11 REEP1 ERLIN2
24 spastic paraplegia 28, autosomal recessive 10.0 SPG11 REEP1 ERLIN2
25 amyotrophic lateral sclerosis 21 10.0 SPG11 ALS2
26 spastic paraplegia 48, autosomal recessive 10.0 SPG11 REEP1 ERLIN2
27 primary lateral sclerosis, juvenile 10.0 ERLIN2 ALS2
28 charcot-marie-tooth disease, axonal, type 2k 10.0 KIF5A KIF1A
29 amyotrophic lateral sclerosis 16, juvenile 10.0 SPG11 ALS2
30 tooth disease 10.0 TFG SPG11 MARS1
31 autosomal recessive distal hereditary motor neuronopathy 10.0 REEP1 ALS2
32 amyotrophic lateral sclerosis type 5 10.0 SPG11 ALS2
33 spastic paraplegia 12, autosomal dominant 10.0 SPG11 REEP1 KIF5A
34 spastic paraplegia 31, autosomal dominant 10.0 SPG11 REEP1 KIF5A
35 spastic paraplegia 13, autosomal dominant 10.0 SPG11 REEP1 KIF5A
36 amyotrophic lateral sclerosis 12 10.0 SPG11 ALS2
37 spastic paraplegia 15, autosomal recessive 10.0 SPG11 REEP1 KIF5A
38 spastic paraplegia 8, autosomal dominant 10.0 SPG11 REEP1 KIF5A
39 spastic paraplegia 17, autosomal dominant 10.0 SPG11 REEP1 KIF5A
40 neuronopathy, distal hereditary motor, type viib 10.0 KIF5A ALS2
41 amyotrophic lateral sclerosis 11 10.0 SPG11 ALS2
42 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 10.0 SPG11 ALS2
43 amyotrophic lateral sclerosis 9 10.0 SPG11 ALS2
44 juvenile amyotrophic lateral sclerosis 9.9 SPG11 ALS2
45 amyotrophic lateral sclerosis type 6 9.9 SPG11 ALS2
46 spastic paraparesis 9.9 SPG11 KIF1A
47 amyotrophic lateral sclerosis 8 9.9 SPG11 ALS2
48 autosomal dominant non-syndromic intellectual disability 9 9.9 REEP1 KIF5A KIF1A
49 amyotrophic lateral sclerosis 4, juvenile 9.9 SPG11 ALS2
50 spastic ataxia 2 9.8 REEP1 MARS1 KIF1A

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



Diseases related to Spastic Paraplegia 57, Autosomal Recessive
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Symptoms & Phenotypes for Spastic Paraplegia 57, Autosomal Recessive

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Human phenotypes related to Spastic Paraplegia 57, Autosomal Recessive:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of peripheral nerve conduction 58 31 obligate (100%) Obligate (100%) HP:0003134
2 difficulty climbing stairs 58 31 obligate (100%) Obligate (100%) HP:0003551
3 difficulty standing 58 31 obligate (100%) Obligate (100%) HP:0003698
4 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
5 spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001258
6 babinski sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0003487
7 inability to walk 58 31 hallmark (90%) Very frequent (99-80%) HP:0002540
8 abnormality of the achilles tendon 58 31 hallmark (90%) Very frequent (99-80%) HP:0005109
9 motor polyneuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007178
10 sensorimotor neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007141
11 distal lower limb amyotrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008944
12 abnormal myelination 58 31 hallmark (90%) Very frequent (99-80%) HP:0012447
13 muscle weakness 31 HP:0001324
14 spasticity 58 Very frequent (99-80%)
15 peripheral neuropathy 58 Very frequent (99-80%)
16 hyperreflexia 31 HP:0001347
17 sensory impairment 31 HP:0003474
18 visual loss 31 HP:0000572

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
optic atrophy
visual loss

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

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

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

Skeletal Limbs:
contractures of the lower limbs

Clinical features from OMIM:

615658

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 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-103 9.53 SACS
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-120 9.53 SACS
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 9.53 SACS
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.53 ERLIN2 SGSM1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 9.53 SACS
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-2 9.53 SACS
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.53 SACS
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.53 ERLIN2 SGSM1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-46 9.53 SACS
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.53 ERLIN2 SGSM1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-9 9.53 SACS
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.53 ERLIN2 SGSM1
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Drugs & Therapeutics for Spastic Paraplegia 57, Autosomal Recessive

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

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Genetic Tests for Spastic Paraplegia 57, Autosomal Recessive

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Genetic tests related to Spastic Paraplegia 57, Autosomal Recessive:

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

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

40
Eye
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Publications for Spastic Paraplegia 57, Autosomal Recessive

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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. 6 56
23479643 2013
2
Hereditary Spastic Paraplegia Overview 6
20301682 2000
3
A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy. 61
30467354 2019
4
Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan. 61
27601211 2016
Sources

Variations for Spastic Paraplegia 57, Autosomal Recessive

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

6 (show top 50) (show all 76) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TFG NM_006070.6(TFG):c.316C>T (p.Arg106Cys)SNV Pathogenic 100909 rs587777175 3:100447603-100447603 3:100728759-100728759
2 TFG NM_006070.6(TFG):c.854C>T (p.Pro285Leu)SNV Pathogenic/Likely pathogenic 37089 rs207482230 3:100467026-100467026 3:100748182-100748182
3 TFG NM_006070.6(TFG):c.1060C>G (p.Pro354Ala)SNV Conflicting interpretations of pathogenicity 245772 rs111356679 3:100467232-100467232 3:100748388-100748388
4 TFG NM_006070.6(TFG):c.1006C>T (p.Pro336Ser)SNV Uncertain significance 234835 rs371681149 3:100467178-100467178 3:100748334-100748334
5 TFG NM_006070.6(TFG):c.944C>T (p.Pro315Leu)SNV Uncertain significance 534741 rs753375115 3:100467116-100467116 3:100748272-100748272
6 TFG NM_006070.6(TFG):c.309A>G (p.Lys103=)SNV Uncertain significance 534747 rs369508900 3:100447596-100447596 3:100728752-100728752
7 TFG NM_006070.6(TFG):c.268G>A (p.Val90Ile)SNV Uncertain significance 851188 3:100438902-100438902 3:100720058-100720058
8 TFG NM_006070.6(TFG):c.286C>T (p.Pro96Ser)SNV Uncertain significance 835424 3:100447573-100447573 3:100728729-100728729
9 TFG NM_006070.6(TFG):c.395C>A (p.Ser132Tyr)SNV Uncertain significance 864373 3:100447682-100447682 3:100728838-100728838
10 TFG NM_006070.6(TFG):c.464A>G (p.Lys155Arg)SNV Uncertain significance 839794 3:100451400-100451400 3:100732556-100732556
11 TFG NM_006070.6(TFG):c.467A>G (p.Gln156Arg)SNV Uncertain significance 849769 3:100451403-100451403 3:100732559-100732559
12 TFG NM_006070.6(TFG):c.484G>A (p.Ala162Thr)SNV Uncertain significance 858796 3:100451420-100451420 3:100732576-100732576
13 TFG NM_006070.6(TFG):c.544A>C (p.Met182Leu)SNV Uncertain significance 859182 3:100451480-100451480 3:100732636-100732636
14 TFG NM_006070.6(TFG):c.567T>A (p.Asp189Glu)SNV Uncertain significance 864470 3:100451503-100451503 3:100732659-100732659
15 TFG NM_006070.6(TFG):c.664G>A (p.Val222Ile)SNV Uncertain significance 855052 3:100455503-100455503 3:100736659-100736659
16 TFG NM_006070.6(TFG):c.898C>A (p.Pro300Thr)SNV Uncertain significance 859556 3:100467070-100467070 3:100748226-100748226
17 TFG NM_006070.6(TFG):c.1133C>T (p.Pro378Leu)SNV Uncertain significance 852670 3:100467305-100467305 3:100748461-100748461
18 TFG NM_006070.6(TFG):c.1153C>T (p.Arg385Cys)SNV Uncertain significance 862024 3:100467325-100467325 3:100748481-100748481
19 TFG NM_006070.6(TFG):c.1154G>A (p.Arg385His)SNV Uncertain significance 851831 3:100467326-100467326 3:100748482-100748482
20 TFG NM_006070.6(TFG):c.391C>T (p.Pro131Ser)SNV Uncertain significance 466408 rs770053266 3:100447678-100447678 3:100728834-100728834
21 TFG NM_006070.6(TFG):c.1014T>G (p.Asn338Lys)SNV Uncertain significance 466402 rs1553704923 3:100467186-100467186 3:100748342-100748342
22 TFG NM_006070.6(TFG):c.980A>G (p.Gln327Arg)SNV Uncertain significance 466411 rs1431898500 3:100467152-100467152 3:100748308-100748308
23 TFG NM_006070.6(TFG):c.1070A>G (p.Tyr357Cys)SNV Uncertain significance 466403 rs1375662436 3:100467242-100467242 3:100748398-100748398
24 TFG NM_006070.6(TFG):c.1094C>T (p.Ser365Leu)SNV Uncertain significance 534740 rs1288104441 3:100467266-100467266 3:100748422-100748422
25 TFG NM_006070.6(TFG):c.1123C>G (p.Pro375Ala)SNV Uncertain significance 534742 rs1234073129 3:100467295-100467295 3:100748451-100748451
26 TFG NM_006070.6(TFG):c.1145C>T (p.Ala382Val)SNV Uncertain significance 534744 rs138185005 3:100467317-100467317 3:100748473-100748473
27 TFG NM_006070.6(TFG):c.483G>A (p.Met161Ile)SNV Uncertain significance 534743 rs750964585 3:100451419-100451419 3:100732575-100732575
28 TFG NM_006070.6(TFG):c.1157C>T (p.Pro386Leu)SNV Uncertain significance 534745 rs766049461 3:100467329-100467329 3:100748485-100748485
29 TFG NM_006070.6(TFG):c.943C>T (p.Pro315Ser)SNV Uncertain significance 534746 rs1553704852 3:100467115-100467115 3:100748271-100748271
30 TFG NM_006070.6(TFG):c.68G>A (p.Arg23Gln)SNV Uncertain significance 579063 rs774808090 3:100432597-100432597 3:100713753-100713753
31 TFG NM_006070.6(TFG):c.98A>G (p.Tyr33Cys)SNV Uncertain significance 581697 rs763523148 3:100432627-100432627 3:100713783-100713783
32 TFG NM_006070.6(TFG):c.310T>C (p.Tyr104His)SNV Uncertain significance 582975 rs775608477 3:100447597-100447597 3:100728753-100728753
33 TFG NM_006070.6(TFG):c.716T>C (p.Ile239Thr)SNV Uncertain significance 568023 rs146004809 3:100455555-100455555 3:100736711-100736711
34 TFG NM_006070.6(TFG):c.740A>G (p.Tyr247Cys)SNV Uncertain significance 574710 rs1559723912 3:100463695-100463695 3:100744851-100744851
35 TFG NM_006070.6(TFG):c.826T>C (p.Tyr276His)SNV Uncertain significance 576156 rs1559726842 3:100466998-100466998 3:100748154-100748154
36 TFG NM_006070.6(TFG):c.852A>C (p.Gln284His)SNV Uncertain significance 569604 rs1559726965 3:100467024-100467024 3:100748180-100748180
37 TFG NM_006070.6(TFG):c.882A>C (p.Gln294His)SNV Uncertain significance 575628 rs751393611 3:100467054-100467054 3:100748210-100748210
38 TFG NM_006070.6(TFG):c.237G>T (p.Gln79His)SNV Uncertain significance 658735 3:100438871-100438871 3:100720027-100720027
39 TFG NM_006070.6(TFG):c.290T>A (p.Leu97His)SNV Uncertain significance 648724 3:100447577-100447577 3:100728733-100728733
40 TFG NM_006070.6(TFG):c.458C>T (p.Ser153Phe)SNV Uncertain significance 646590 3:100451394-100451394 3:100732550-100732550
41 TFG NM_006070.6(TFG):c.482T>C (p.Met161Thr)SNV Uncertain significance 651133 3:100451418-100451418 3:100732574-100732574
42 TFG NM_006070.6(TFG):c.545T>C (p.Met182Thr)SNV Uncertain significance 663351 3:100451481-100451481 3:100732637-100732637
43 TFG NM_006070.6(TFG):c.743A>G (p.Gln248Arg)SNV Uncertain significance 662929 3:100463698-100463698 3:100744854-100744854
44 TFG NM_006070.6(TFG):c.754G>A (p.Gly252Ser)SNV Uncertain significance 663659 3:100463709-100463709 3:100744865-100744865
45 TFG NM_006070.6(TFG):c.792G>T (p.Gln264His)SNV Uncertain significance 664913 3:100463747-100463747 3:100744903-100744903
46 TFG NM_006070.6(TFG):c.898C>T (p.Pro300Ser)SNV Uncertain significance 643529 3:100467070-100467070 3:100748226-100748226
47 TFG NM_006070.6(TFG):c.1030G>A (p.Ala344Thr)SNV Uncertain significance 647551 3:100467202-100467202 3:100748358-100748358
48 TFG NM_006070.6(TFG):c.1036C>T (p.Gln346Ter)SNV Uncertain significance 640949 3:100467208-100467208 3:100748364-100748364
49 TFG NM_006070.6(TFG):c.1165G>C (p.Gly389Arg)SNV Uncertain significance 645167 3:100467337-100467337 3:100748493-100748493
50 TFG NM_006070.6(TFG):c.457T>G (p.Ser153Ala)SNV Likely benign 703909 3:100451393-100451393 3:100732549-100732549

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

73
# Symbol AA change Variation ID SNP ID
1 TFG p.Arg106Cys VAR_070986 rs587777175
2 TFG p.Arg106His VAR_078075 rs376971794

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Expression for Spastic Paraplegia 57, Autosomal Recessive

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

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GO Terms for Spastic Paraplegia 57, Autosomal Recessive

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.86 TFG SPG11 SGSM1 MARS1 KIF5A KIF1A
2 cytoplasm GO:0005737 9.81 TFG SPG11 SGSM1 SACS REEP1 MARS1
3 axon cytoplasm GO:1904115 9.37 KIF5A KIF1A
4 kinesin complex GO:0005871 9.32 KIF5A KIF1A
5 dendrite GO:0030425 9.26 SPG11 SACS KIF1A ALS2
6 axon GO:0030424 8.92 SPG11 SACS KIF1A ALS2

Biological processes related to Spastic Paraplegia 57, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vesicle-mediated transport GO:0016192 9.43 TFG KIF5A KIF1A
2 cytoskeleton-dependent intracellular transport GO:0030705 9.16 KIF5A KIF1A
3 synaptic vesicle transport GO:0048489 8.96 SPG11 KIF5A
4 retrograde neuronal dense core vesicle transport GO:1990049 8.62 KIF5A KIF1A

Molecular functions related to Spastic Paraplegia 57, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 9.13 REEP1 KIF5A KIF1A
2 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 8.62 KIF5A KIF1A
Sources

Sources for Spastic Paraplegia 57, Autosomal Recessive

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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