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, Skin diseases
Genes Variations Tissues Related diseases 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 ⁷⁵ ²⁹ ⁶ ⁷³

Spg57 ⁵⁷ ¹² ⁵⁹ ⁷⁵

Autosomal Recessive Spastic Paraplegia Type 57 ¹² ⁵⁹

Hereditary Spastic Paraplegia 57 ¹² ¹⁵

Paraplegia, Spastic, Type 57, Autosomal Recessive ⁴⁰

Spastic Paraplegia Due to Partial Tfg Deficiency ⁵⁹

Autosomal Recessive Spastic Paraplegia 57 ¹²

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

spastic paraplegia 57, autosomal recessive:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Mental diseases Skin diseases Nephrological diseases Ear diseases Gastrointestinal diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Diseases of the nervous system

Cerebral palsy and other paralytic syndromes

Paraplegia and tetraplegia

Spastic paraplegia

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Hereditary spastic paraplegia

Orphanet: ⁵⁹

Rare neurological diseases

Rare eye diseases

External Ids:

OMIM ⁵⁷ 615658

Disease Ontology ¹² DOID:0110809

ICD10 ³³ G11.4 G82.1

Orphanet ⁵⁹ ORPHA431329

ICD10 via Orphanet ³⁴ G11.4

MedGen ⁴² C3714897 CN184732

MeSH ⁴⁴ D015419

SNOMED-CT via HPO ⁶⁹ 258211005 7973008 76976005 more

UMLS ⁷³ C3714897

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Summaries for Spastic Paraplegia 57, Autosomal Recessive

UniProtKB/Swiss-Prot : ⁷⁵ Spastic paraplegia 57, autosomal recessive: A complicated form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations.

MalaCards based summary : Spastic Paraplegia 57, Autosomal Recessive, also known as spg57, is related to hereditary motor and sensory neuropathy, type iic and charcot-marie-tooth disease, axonal, type 2e, and has symptoms including unspecified visual loss An important gene associated with Spastic Paraplegia 57, Autosomal Recessive is TFG (TRK-Fused Gene). Affiliated tissues include skin, bone and eye, and related phenotypes are optic atrophy and abnormality of peripheral nerve conduction

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

Description from OMIM: 615658

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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	Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 20, Autosomal Recessive	Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant	Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 10, Autosomal Dominant	Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant	Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 13, Autosomal Dominant	Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 7, Autosomal Recessive	Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 25, Autosomal Recessive	Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 26, Autosomal Recessive	Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 29, Autosomal Dominant	Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant	Spastic Paraplegia 30, Autosomal Recessive
Spastic Paraplegia 18, Autosomal Recessive	Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant	Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive	Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant	Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 36, Autosomal Dominant	Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive	Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 48, Autosomal Recessive	Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 47, Autosomal Recessive	Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive	Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive	Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 54, Autosomal Recessive	Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive	Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive	Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 62, Autosomal Recessive	Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive	Spastic Paraplegia 63, Autosomal Recessive
Spastic Paraplegia 73, Autosomal Dominant	Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 9b, Autosomal Recessive	Spastic Paraplegia 75, Autosomal Recessive
Spastic Paraplegia 76, Autosomal Recessive	Spastic Paraplegia 77, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive	Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 51	Hereditary Spastic Paraplegia 72
Spastic Paraplegia 4	Spastic Paraplegia 8
Spastic Paraplegia 11	Spastic Paraplegia 1
Spastic Paraplegia 10	Spastic Paraplegia 12
Spastic Paraplegia 13	Spastic Paraplegia 14
Spastic Paraplegia 15	Spastic Paraplegia 16
Spastic Paraplegia 17	Spastic Paraplegia 18
Spastic Paraplegia 19	Spastic Paraplegia 24
Spastic Paraplegia 25	Spastic Paraplegia 26
Spastic Paraplegia 29	Spastic Paraplegia 3
Spastic Paraplegia 31	Spastic Paraplegia 32
Spastic Paraplegia 39	Spastic Paraplegia 51
Spastic Paraplegia 5a	Spastic Paraplegia 5b
Spastic Paraplegia 6	Spastic Paraplegia 9
Spastic Paraplegia Type 49	Autosomal Recessive Spastic Paraplegia Type 60
Autosomal Recessive Spastic Paraplegia Type 59	Autosomal Recessive Spastic Paraplegia Type 68
Autosomal Recessive Spastic Paraplegia Type 69	Autosomal Recessive Spastic Paraplegia Type 70
Autosomal Recessive Spastic Paraplegia Type 71	Autosomal Recessive Spastic Paraplegia Type 66
Autosomal Recessive Spastic Paraplegia Type 67	Autosomal Dominant Spastic Paraplegia Type 9b
Autosomal Dominant Spastic Paraplegia Type 9

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

#	Related Disease	Score	Top Affiliating Genes
1	hereditary motor and sensory neuropathy, type iic	9.9	SPG11 TFG
2	charcot-marie-tooth disease, axonal, type 2e	9.9	SPG11 TFG
3	charcot-marie-tooth disease	9.8	SPG11 TFG
4	amyotrophic lateral sclerosis type 5	9.8	ALS2 SPG11
5	lateral sclerosis	9.8	ALS2 SPG11
6	juvenile amyotrophic lateral sclerosis	9.8	ALS2 SPG11
7	amyotrophic lateral sclerosis 1	9.6	ALS2 SPG11
8	hereditary spastic paraplegia	9.4	ALS2 SACS SPG11 TFG

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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

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

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

Head And Neck Eyes:
optic atrophy
visual loss

Skeletal Limbs:
contractures of the lower limbs

Clinical features from OMIM:

615658

Human phenotypes related to Spastic Paraplegia 57, Autosomal Recessive:

⁵⁹ ³² (show all 17)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	optic atrophy ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000648
2	abnormality of peripheral nerve conduction ⁵⁹ ³²	obligate (100%)	Obligate (100%)	HP:0003134
3	babinski sign ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003487
4	inability to walk ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002540
5	spastic paraplegia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001258
6	sensorimotor neuropathy ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0007141
7	abnormal myelination ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0012447
8	difficulty climbing stairs ⁵⁹ ³²	obligate (100%)	Obligate (100%)	HP:0003551
9	abnormality of the achilles tendon ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0005109
10	distal lower limb amyotrophy ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0008944
11	difficulty standing ⁵⁹ ³²	obligate (100%)	Obligate (100%)	HP:0003698
12	motor polyneuropathy ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0007178
13	spasticity ⁵⁹		Very frequent (99-80%)
14	hyperreflexia ³²			HP:0001347
15	peripheral neuropathy ⁵⁹		Very frequent (99-80%)
16	visual loss ³²			HP:0000572
17	sensory impairment ³²			HP:0003474

UMLS symptoms related to Spastic Paraplegia 57, Autosomal Recessive:

unspecified visual loss

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

²⁶ (show all 15)

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

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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

Skin, Bone, Eye

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Publications for Spastic Paraplegia 57, Autosomal Recessive

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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	TRK-Fused Gene	Protein Coding	1735.64	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	23479643
2	SPG11	SPG11, Spatacsin Vesicle Trafficking Associated	Protein Coding	16.23	DISEASES inferred ¹⁵
3	ALS2	ALS2, Alsin Rho Guanine Nucleotide Exchange Factor	Protein Coding	16.14	DISEASES inferred ¹⁵
4	SACS	Sacsin Molecular Chaperone	Protein Coding	16.1	DISEASES inferred ¹⁵

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Variations for Spastic Paraplegia 57, Autosomal Recessive

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

⁷⁵

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

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

⁶ (show top 50) (show all 79)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TFG	NM_006070.5(TFG): c.854C> T (p.Pro285Leu)	single nucleotide variant	Pathogenic	rs207482230	GRCh37	Chromosome 3, 100467026: 100467026
2	TFG	NM_006070.5(TFG): c.854C> T (p.Pro285Leu)	single nucleotide variant	Pathogenic	rs207482230	GRCh38	Chromosome 3, 100748182: 100748182
3	TFG	NM_001007565.2(TFG): c.316C> T (p.Arg106Cys)	single nucleotide variant	Pathogenic	rs587777175	GRCh37	Chromosome 3, 100447603: 100447603
4	TFG	NM_001007565.2(TFG): c.316C> T (p.Arg106Cys)	single nucleotide variant	Pathogenic	rs587777175	GRCh38	Chromosome 3, 100728759: 100728759
5	TFG	NM_006070.5(TFG): c.1006C> T (p.Pro336Ser)	single nucleotide variant	Uncertain significance	rs371681149	GRCh37	Chromosome 3, 100467178: 100467178
6	TFG	NM_006070.5(TFG): c.1006C> T (p.Pro336Ser)	single nucleotide variant	Uncertain significance	rs371681149	GRCh38	Chromosome 3, 100748334: 100748334
7	TFG	NM_006070.5(TFG): c.1060C> G (p.Pro354Ala)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs111356679	GRCh37	Chromosome 3, 100467232: 100467232
8	TFG	NM_006070.5(TFG): c.1060C> G (p.Pro354Ala)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs111356679	GRCh38	Chromosome 3, 100748388: 100748388
9	TFG	NM_006070.5(TFG): c.258G> T (p.Leu86=)	single nucleotide variant	Benign/Likely benign	rs150620449	GRCh37	Chromosome 3, 100438892: 100438892
10	TFG	NM_006070.5(TFG): c.258G> T (p.Leu86=)	single nucleotide variant	Benign/Likely benign	rs150620449	GRCh38	Chromosome 3, 100720048: 100720048
11	TFG	NM_006070.5(TFG): c.663C> A (p.Gly221=)	single nucleotide variant	Benign	rs140669729	GRCh37	Chromosome 3, 100455502: 100455502
12	TFG	NM_006070.5(TFG): c.663C> A (p.Gly221=)	single nucleotide variant	Benign	rs140669729	GRCh38	Chromosome 3, 100736658: 100736658
13	TFG	NM_006070.5(TFG): c.722-8G> T	single nucleotide variant	Benign	rs41272979	GRCh37	Chromosome 3, 100463669: 100463669
14	TFG	NM_006070.5(TFG): c.722-8G> T	single nucleotide variant	Benign	rs41272979	GRCh38	Chromosome 3, 100744825: 100744825
15	TFG	NM_006070.5(TFG): c.945G> A (p.Pro315=)	single nucleotide variant	Benign	rs61736338	GRCh37	Chromosome 3, 100467117: 100467117
16	TFG	NM_006070.5(TFG): c.945G> A (p.Pro315=)	single nucleotide variant	Benign	rs61736338	GRCh38	Chromosome 3, 100748273: 100748273
17	TFG	NM_006070.5(TFG): c.416-9T> C	single nucleotide variant	Benign	rs115896544	GRCh37	Chromosome 3, 100451343: 100451343
18	TFG	NM_006070.5(TFG): c.416-9T> C	single nucleotide variant	Benign	rs115896544	GRCh38	Chromosome 3, 100732499: 100732499
19	TFG	NM_006070.5(TFG): c.552G> A (p.Ala184=)	single nucleotide variant	Benign	rs35648279	GRCh37	Chromosome 3, 100451488: 100451488
20	TFG	NM_006070.5(TFG): c.552G> A (p.Ala184=)	single nucleotide variant	Benign	rs35648279	GRCh38	Chromosome 3, 100732644: 100732644
21	TFG	NM_006070.5(TFG): c.391C> T (p.Pro131Ser)	single nucleotide variant	Uncertain significance	rs770053266	GRCh38	Chromosome 3, 100728834: 100728834
22	TFG	NM_006070.5(TFG): c.391C> T (p.Pro131Ser)	single nucleotide variant	Uncertain significance	rs770053266	GRCh37	Chromosome 3, 100447678: 100447678
23	TFG	NM_006070.5(TFG): c.594T> G (p.Ala198=)	single nucleotide variant	Benign	rs12562	GRCh38	Chromosome 3, 100736589: 100736589
24	TFG	NM_006070.5(TFG): c.594T> G (p.Ala198=)	single nucleotide variant	Benign	rs12562	GRCh37	Chromosome 3, 100455433: 100455433
25	TFG	NM_006070.5(TFG): c.1014T> G (p.Asn338Lys)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 3, 100748342: 100748342
26	TFG	NM_006070.5(TFG): c.1014T> G (p.Asn338Lys)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 3, 100467186: 100467186
27	TFG	NM_006070.5(TFG): c.415+7C> G	single nucleotide variant	Benign	rs149927288	GRCh38	Chromosome 3, 100728865: 100728865
28	TFG	NM_006070.5(TFG): c.415+7C> G	single nucleotide variant	Benign	rs149927288	GRCh37	Chromosome 3, 100447709: 100447709
29	TFG	NM_006070.5(TFG): c.980A> G (p.Gln327Arg)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 3, 100748308: 100748308
30	TFG	NM_006070.5(TFG): c.980A> G (p.Gln327Arg)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 3, 100467152: 100467152
31	TFG	NM_006070.5(TFG): c.1070A> G (p.Tyr357Cys)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 3, 100467242: 100467242
32	TFG	NM_006070.5(TFG): c.1070A> G (p.Tyr357Cys)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 3, 100748398: 100748398
33	TFG	NM_006070.5(TFG): c.225C> G (p.Ser75=)	single nucleotide variant	Likely benign	rs747353898	GRCh38	Chromosome 3, 100720015: 100720015
34	TFG	NM_006070.5(TFG): c.225C> G (p.Ser75=)	single nucleotide variant	Likely benign	rs747353898	GRCh37	Chromosome 3, 100438859: 100438859
35	TFG	NM_006070.5(TFG): c.988A> G (p.Thr330Ala)	single nucleotide variant	Likely benign	rs145835282	GRCh38	Chromosome 3, 100748316: 100748316
36	TFG	NM_006070.5(TFG): c.988A> G (p.Thr330Ala)	single nucleotide variant	Likely benign	rs145835282	GRCh37	Chromosome 3, 100467160: 100467160
37	TFG	NC_000003.12: g.(?_100713666)_(100720078_?)dup	duplication	Likely benign		GRCh38	Chromosome 3, 100713666: 100720078
38	TFG	NM_006070.5(TFG): c.185-10T> A	single nucleotide variant	Likely benign	rs79631225	GRCh38	Chromosome 3, 100719965: 100719965
39	TFG	NM_006070.5(TFG): c.185-10T> A	single nucleotide variant	Likely benign	rs79631225	GRCh37	Chromosome 3, 100438809: 100438809
40	TFG	NM_006070.5(TFG): c.185-10T> C	single nucleotide variant	Benign	rs79631225	GRCh38	Chromosome 3, 100719965: 100719965
41	TFG	NM_006070.5(TFG): c.185-10T> C	single nucleotide variant	Benign	rs79631225	GRCh37	Chromosome 3, 100438809: 100438809
42	TFG	NM_006070.5(TFG): c.1090A> C (p.Thr364Pro)	single nucleotide variant	Benign	rs6772054	GRCh38	Chromosome 3, 100748418: 100748418
43	TFG	NM_006070.5(TFG): c.1090A> C (p.Thr364Pro)	single nucleotide variant	Benign	rs6772054	GRCh37	Chromosome 3, 100467262: 100467262
44	TFG	NM_006070.5(TFG): c.944C> T (p.Pro315Leu)	single nucleotide variant	Uncertain significance	rs753375115	GRCh37	Chromosome 3, 100467116: 100467116
45	TFG	NM_006070.5(TFG): c.944C> T (p.Pro315Leu)	single nucleotide variant	Uncertain significance	rs753375115	GRCh38	Chromosome 3, 100748272: 100748272
46	TFG	NM_006070.5(TFG): c.309A> G (p.Lys103=)	single nucleotide variant	Uncertain significance	rs369508900	GRCh38	Chromosome 3, 100728752: 100728752
47	TFG	NM_006070.5(TFG): c.309A> G (p.Lys103=)	single nucleotide variant	Uncertain significance	rs369508900	GRCh37	Chromosome 3, 100447596: 100447596
48	TFG	NM_006070.5(TFG): c.672A> C (p.Pro224=)	single nucleotide variant	Likely benign	rs141412018	GRCh38	Chromosome 3, 100736667: 100736667
49	TFG	NM_006070.5(TFG): c.672A> C (p.Pro224=)	single nucleotide variant	Likely benign	rs141412018	GRCh37	Chromosome 3, 100455511: 100455511
50	TFG	NM_006070.5(TFG): c.1094C> T (p.Ser365Leu)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 3, 100748422: 100748422

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

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 ExPASy

¹⁸ FDA Approved Drugs

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

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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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Spastic Paraplegia 57, Autosomal Recessive:

UMLS symptoms related to Spastic Paraplegia 57, Autosomal Recessive:

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

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

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

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

ClinVar 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