Spastic Paraplegia 57, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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:

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: ³³ ³⁴

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Hereditary spastic paraplegia

Orphanet: ⁵⁹

Rare neurological diseases

Rare eye diseases

External Ids:

Disease Ontology ¹² DOID:0110809

OMIM ⁵⁷ 615658 PS303350

MeSH ⁴⁴ D015419

ICD10 ³³ G11.4

ICD10 via Orphanet ³⁴ G11.4

Orphanet ⁵⁹ ORPHA431329

MedGen ⁴² C3714897 CN184732

EFO ¹⁷ EFO_0009017

UMLS ⁷² C3714897

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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

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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:

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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

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Drugs & Therapeutics for Spastic Paraplegia 57, Autosomal Recessive

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

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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

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Anatomical Context for Spastic Paraplegia 57, Autosomal Recessive

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

⁴¹

Eye

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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	Beetz C...Audhya A	23479643	2013
2	Hereditary Spastic Paraplegia Overview ⁷¹	Hedera P	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	Miyabayashi T...Haginoya K	30467354	2019
4	Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan. ³⁸	Elsayed LE...Stevanin G	27601211	2016

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Genes for Spastic Paraplegia 57, Autosomal Recessive

Genes related to Spastic Paraplegia 57, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TFG	Trafficking From ER To Golgi Regulator	Protein Coding	1736.65	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁴ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	23479643
2	ALS2	Alsin Rho Guanine Nucleotide Exchange Factor ALS2	Protein Coding	16.16	DISEASES inferred ¹⁵
3	SPG11	SPG11 Vesicle Trafficking Associated, Spatacsin	Protein Coding	16.04	DISEASES inferred ¹⁵
4	SACS	Sacsin Molecular Chaperone	Protein Coding	15.9	DISEASES inferred ¹⁵

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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

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Expression for Spastic Paraplegia 57, Autosomal Recessive

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

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

Sources for Spastic Paraplegia 57, Autosomal Recessive

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Spastic Paraplegia 57, Autosomal Recessive (SPG57)

Aliases & Classifications for Spastic Paraplegia 57, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 57, Autosomal Recessive:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Spastic Paraplegia 57, Autosomal Recessive

Related Diseases for Spastic Paraplegia 57, Autosomal Recessive

Diseases in the Spastic Paraplegia 3a family:

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

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Spastic Paraplegia 57, Autosomal Recessive:

Drugs & Therapeutics for Spastic Paraplegia 57, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 57, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 57, Autosomal Recessive:

Anatomical Context for Spastic Paraplegia 57, Autosomal Recessive

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

Publications for Spastic Paraplegia 57, Autosomal Recessive

Articles related to Spastic Paraplegia 57, Autosomal Recessive:

Genes for Spastic Paraplegia 57, Autosomal Recessive

Genes related to Spastic Paraplegia 57, Autosomal Recessive (1 elite genes):

Variations for Spastic Paraplegia 57, Autosomal Recessive

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

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

Expression 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:

Sources for Spastic Paraplegia 57, Autosomal Recessive