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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 hereditary spastic paraplegia 72, 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, bone and skin, 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
Sources

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 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 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 65)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 3, autosomal dominant 30.3 SPG11 REEP1 KIF5A
2 hereditary spastic paraplegia 72 10.3 SPG11 REEP1
3 spastic paraplegia 28, autosomal recessive 10.3 SPG11 REEP1
4 spastic paraplegia 54, autosomal recessive 10.3 SPG11 REEP1
5 spastic paraplegia 50, autosomal recessive 10.2 SPG11 ERLIN2
6 spastic paraplegia 5a, autosomal recessive 10.2 SPG11 KIF5A
7 spastic paraplegia 33, autosomal dominant 10.2 REEP1 KIF5A
8 pure hereditary spastic paraplegia 10.2 KIF5A ERLIN2
9 spastic paraplegia 39, autosomal recessive 10.2 SPG11 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 amyotrophic lateral sclerosis type 15 10.2 SPG11 ALS2
16 amyotrophic lateral sclerosis 7 10.1 SPG11 ALS2
17 amyotrophic lateral sclerosis 20 10.1 SPG11 ALS2
18 spastic paraplegia 64, autosomal recessive 10.1 SPG11 ALS2
19 amyotrophic lateral sclerosis 21 10.1 SPG11 ALS2
20 primary lateral sclerosis, juvenile 10.1 ERLIN2 ALS2
21 amyotrophic lateral sclerosis 17 10.1 SPG11 ALS2
22 spastic paraplegia 35, autosomal recessive 10.1 SPG11 REEP1
23 amyotrophic lateral sclerosis 16, juvenile 10.1 SPG11 ALS2
24 amyotrophic lateral sclerosis 12 10.1 SPG11 ALS2
25 amyotrophic lateral sclerosis 11 10.1 SPG11 ALS2
26 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 10.0 SPG11 ALS2
27 spastic paraplegia 47, autosomal recessive 10.0 SPG11 REEP1 ERLIN2
28 pseudobulbar palsy 10.0 KIF5A ALS2
29 charcot-marie-tooth disease, axonal, type 2k 10.0 KIF5A KIF1A
30 spastic paraplegia 48, autosomal recessive 10.0 SPG11 REEP1 ERLIN2
31 amyotrophic lateral sclerosis 9 10.0 SPG11 ALS2
32 spastic paraplegia 12, autosomal dominant 10.0 SPG11 REEP1 KIF5A
33 amyotrophic lateral sclerosis type 6 10.0 SPG11 ALS2
34 spastic paraplegia 31, autosomal dominant 10.0 SPG11 REEP1 KIF5A
35 spastic paraplegia 15, autosomal recessive 10.0 SPG11 REEP1 KIF5A
36 spastic paraplegia 17, autosomal dominant 10.0 SPG11 REEP1 KIF5A
37 juvenile amyotrophic lateral sclerosis 10.0 SPG11 ALS2
38 spastic paraplegia 13, autosomal dominant 10.0 REEP1 KIF5A ERLIN2
39 amyotrophic lateral sclerosis 4, juvenile 9.9 SPG11 ALS2
40 neuropathy, hereditary sensory, type iic 9.9 SPG11 REEP1 KIF1A
41 motor peripheral neuropathy 9.9 SPG11 REEP1
42 amyotrophic lateral sclerosis 8 9.9 SPG11 ALS2
43 amyotrophic lateral sclerosis type 5 9.9 SPG11 KIF5A ALS2
44 lateral sclerosis 9.9 SPG11 KIF5A ALS2
45 autosomal dominant non-syndromic intellectual disability 9 9.9 REEP1 KIF5A KIF1A
46 spastic paraparesis 9.9 SPG11 KIF1A
47 axonal neuropathy 9.8 SPG11 KIF5A KIF1A
48 spastic ataxia 2 9.8 REEP1 MARS1 KIF1A
49 spastic ataxia 9.8 SACS KIF1A
50 spastic paraplegia 18, autosomal recessive 9.7 SPG11 REEP1 KIF5A ERLIN2

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 babinski sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0003487
6 inability to walk 58 31 hallmark (90%) Very frequent (99-80%) HP:0002540
7 spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001258
8 sensorimotor neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007141
9 abnormal myelination 58 31 hallmark (90%) Very frequent (99-80%) HP:0012447
10 abnormality of the achilles tendon 58 31 hallmark (90%) Very frequent (99-80%) HP:0005109
11 distal lower limb amyotrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008944
12 motor polyneuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007178
13 spasticity 58 Very frequent (99-80%)
14 hyperreflexia 31 HP:0001347
15 muscle weakness 31 HP:0001324
16 peripheral neuropathy 58 Very frequent (99-80%)
17 visual loss 31 HP:0000572
18 sensory impairment 31 HP:0003474

Symptoms via clinical synopsis from OMIM:

56
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

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

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-103 9.58 SACS
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.58 SACS
3 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.58 SACS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.58 SACS
5 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.58 ERLIN2 SGSM1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.58 ERLIN2 SGSM1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.58 SACS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.58 SACS
9 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.58 SACS
10 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.58 ERLIN2 SACS SGSM1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.58 SACS
12 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.58 ERLIN2 SGSM1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.58 SACS
Sources

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
Sources

Anatomical Context for Spastic Paraplegia 57, Autosomal Recessive

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

40
Eye, Bone, Skin
Sources

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. 56 6
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
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Variations for Spastic Paraplegia 57, Autosomal Recessive

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

6 (show all 40) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TFG NM_006070.6(TFG):c.854C>T (p.Pro285Leu)SNV Pathogenic 37089 rs207482230 3:100467026-100467026 3:100748182-100748182
2 TFG NM_006070.6(TFG):c.316C>T (p.Arg106Cys)SNV Pathogenic 100909 rs587777175 3:100447603-100447603 3:100728759-100728759
3 TFG NM_006070.6(TFG):c.391C>T (p.Pro131Ser)SNV Uncertain significance 466408 rs770053266 3:100447678-100447678 3:100728834-100728834
4 TFG NM_006070.6(TFG):c.1014T>G (p.Asn338Lys)SNV Uncertain significance 466402 rs1553704923 3:100467186-100467186 3:100748342-100748342
5 TFG NM_006070.6(TFG):c.980A>G (p.Gln327Arg)SNV Uncertain significance 466411 rs1431898500 3:100467152-100467152 3:100748308-100748308
6 TFG NM_006070.6(TFG):c.1070A>G (p.Tyr357Cys)SNV Uncertain significance 466403 rs1375662436 3:100467242-100467242 3:100748398-100748398
7 TFG NM_006070.6(TFG):c.944C>T (p.Pro315Leu)SNV Uncertain significance 534741 rs753375115 3:100467116-100467116 3:100748272-100748272
8 TFG NM_006070.6(TFG):c.309A>G (p.Lys103=)SNV Uncertain significance 534747 rs369508900 3:100447596-100447596 3:100728752-100728752
9 TFG NM_006070.6(TFG):c.1006C>T (p.Pro336Ser)SNV Uncertain significance 234835 rs371681149 3:100467178-100467178 3:100748334-100748334
10 TFG NM_006070.6(TFG):c.1094C>T (p.Ser365Leu)SNV Uncertain significance 534740 rs1288104441 3:100467266-100467266 3:100748422-100748422
11 TFG NM_006070.6(TFG):c.1123C>G (p.Pro375Ala)SNV Uncertain significance 534742 rs1234073129 3:100467295-100467295 3:100748451-100748451
12 TFG NM_006070.6(TFG):c.1145C>T (p.Ala382Val)SNV Uncertain significance 534744 rs138185005 3:100467317-100467317 3:100748473-100748473
13 TFG NM_006070.6(TFG):c.483G>A (p.Met161Ile)SNV Uncertain significance 534743 rs750964585 3:100451419-100451419 3:100732575-100732575
14 TFG NM_006070.6(TFG):c.1157C>T (p.Pro386Leu)SNV Uncertain significance 534745 rs766049461 3:100467329-100467329 3:100748485-100748485
15 TFG NM_006070.6(TFG):c.943C>T (p.Pro315Ser)SNV Uncertain significance 534746 rs1553704852 3:100467115-100467115 3:100748271-100748271
16 TFG NM_006070.6(TFG):c.68G>A (p.Arg23Gln)SNV Uncertain significance 579063 rs774808090 3:100432597-100432597 3:100713753-100713753
17 TFG NM_006070.6(TFG):c.98A>G (p.Tyr33Cys)SNV Uncertain significance 581697 rs763523148 3:100432627-100432627 3:100713783-100713783
18 TFG NM_006070.6(TFG):c.310T>C (p.Tyr104His)SNV Uncertain significance 582975 rs775608477 3:100447597-100447597 3:100728753-100728753
19 TFG NM_006070.6(TFG):c.716T>C (p.Ile239Thr)SNV Uncertain significance 568023 rs146004809 3:100455555-100455555 3:100736711-100736711
20 TFG NM_006070.6(TFG):c.740A>G (p.Tyr247Cys)SNV Uncertain significance 574710 rs1559723912 3:100463695-100463695 3:100744851-100744851
21 TFG NM_006070.6(TFG):c.826T>C (p.Tyr276His)SNV Uncertain significance 576156 rs1559726842 3:100466998-100466998 3:100748154-100748154
22 TFG NM_006070.6(TFG):c.852A>C (p.Gln284His)SNV Uncertain significance 569604 rs1559726965 3:100467024-100467024 3:100748180-100748180
23 TFG NM_006070.6(TFG):c.882A>C (p.Gln294His)SNV Uncertain significance 575628 rs751393611 3:100467054-100467054 3:100748210-100748210
24 TFG NM_006070.6(TFG):c.237G>T (p.Gln79His)SNV Uncertain significance 658735 3:100438871-100438871 3:100720027-100720027
25 TFG NM_006070.6(TFG):c.290T>A (p.Leu97His)SNV Uncertain significance 648724 3:100447577-100447577 3:100728733-100728733
26 TFG NM_006070.6(TFG):c.458C>T (p.Ser153Phe)SNV Uncertain significance 646590 3:100451394-100451394 3:100732550-100732550
27 TFG NM_006070.6(TFG):c.482T>C (p.Met161Thr)SNV Uncertain significance 651133 3:100451418-100451418 3:100732574-100732574
28 TFG NM_006070.6(TFG):c.545T>C (p.Met182Thr)SNV Uncertain significance 663351 3:100451481-100451481 3:100732637-100732637
29 TFG NM_006070.6(TFG):c.743A>G (p.Gln248Arg)SNV Uncertain significance 662929 3:100463698-100463698 3:100744854-100744854
30 TFG NM_006070.6(TFG):c.754G>A (p.Gly252Ser)SNV Uncertain significance 663659 3:100463709-100463709 3:100744865-100744865
31 TFG NM_006070.6(TFG):c.792G>T (p.Gln264His)SNV Uncertain significance 664913 3:100463747-100463747 3:100744903-100744903
32 TFG NM_006070.6(TFG):c.898C>T (p.Pro300Ser)SNV Uncertain significance 643529 3:100467070-100467070 3:100748226-100748226
33 TFG NM_006070.6(TFG):c.1030G>A (p.Ala344Thr)SNV Uncertain significance 647551 3:100467202-100467202 3:100748358-100748358
34 TFG NM_006070.6(TFG):c.1036C>T (p.Gln346Ter)SNV Uncertain significance 640949 3:100467208-100467208 3:100748364-100748364
35 TFG NM_006070.6(TFG):c.1165G>C (p.Gly389Arg)SNV Uncertain significance 645167 3:100467337-100467337 3:100748493-100748493
36 TFG NM_006070.6(TFG):c.672A>C (p.Pro224=)SNV Likely benign 534748 rs141412018 3:100455511-100455511 3:100736667-100736667
37 TFG duplication Likely benign 466401 3:100713666-100720078
38 TFG NM_006070.6(TFG):c.722-8G>TSNV Benign 378722 rs41272979 3:100463669-100463669 3:100744825-100744825
39 TFG NM_006070.6(TFG):c.552G>A (p.Ala184=)SNV Benign 378720 rs35648279 3:100451488-100451488 3:100732644-100732644
40 TFG NM_006070.6(TFG):c.302A>G (p.Gln101Arg)SNV not provided 684501 3:100447589-100447589 3:100728745-100728745

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 9.33 TFG KIF5A KIF1A
2 synaptic vesicle transport GO:0048489 8.96 SPG11 KIF5A
3 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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