Spastic Paraplegia 51, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SPG51 MCID: SPS152 MIFTS: 40	Spastic Paraplegia 51, Autosomal Recessive (SPG51) 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 Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Spastic Paraplegia 51, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 51, Autosomal Recessive:

Name: Spastic Paraplegia 51, Autosomal Recessive ⁵⁶ ⁵² ⁷³ ²⁹ ¹³ ⁶ ⁷¹

Spg51 ⁵⁶ ⁵² ⁷³

Severe Intellectual Disability and Progressive Spastic Paraplegia ⁵² ⁵⁸

Ap4 Deficiency Syndrome ⁵² ⁵⁸

Spastic Paraplegia 51 ⁵² ²⁹

Cerebral Palsy, Spastic Quadriplegic, 4, Formerly; Cpsq4, Formerly ⁵⁶

Cerebral Palsy, Spastic Quadriplegic, 4, Formerly ⁵⁶

Autosomal Recessive Spastic Paraplegia 51 ⁵²

Cerebral Palsy, Spastic Quadriplegic 4 ⁷³

Cpsq4, Formerly ⁵⁶

Cpsq4 ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

severe intellectual disability and progressive spastic paraplegia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
two families have been reported (as of june 2011)

HPO:

³¹

spastic paraplegia 51, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset

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)

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

OMIM ⁵⁶ 613744

OMIM Phenotypic Series ⁵⁶ PS303350

MeSH ⁴³ D002547 D015419

Orphanet ⁵⁸ ORPHA280763

MedGen ⁴¹ C3151056

UMLS ⁷¹ C3151056

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Summaries for Spastic Paraplegia 51, Autosomal Recessive

UniProtKB/Swiss-Prot : ⁷³ Spastic paraplegia 51, autosomal recessive: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG51 is a non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest motor and posture impairments often associated with epilepsy and disturbances of cognition, behavior, sensation, and communication.

MalaCards based summary : Spastic Paraplegia 51, Autosomal Recessive, also known as spg51, is related to hereditary spastic paraplegia 51 and ap-4-associated hereditary spastic paraplegia, and has symptoms including seizures An important gene associated with Spastic Paraplegia 51, Autosomal Recessive is AP4E1 (Adaptor Related Protein Complex 4 Subunit Epsilon 1), and among its related pathways/superpathways are Vesicle-mediated transport and Clathrin derived vesicle budding. Related phenotypes are microcephaly and intellectual disability, severe

OMIM : ⁵⁶ Spastic paraplegia-51 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Moreno-De-Luca et al., 2011). (613744)

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Related Diseases for Spastic Paraplegia 51, 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 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 51, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)

#	Related Disease	Score	Top Affiliating Genes
1	hereditary spastic paraplegia 51	30.6	AP4S1 AP4M1 AP4E1 AP4B1
2	ap-4-associated hereditary spastic paraplegia	30.3	AP4S1 AP4M1 AP4E1 AP4B1
3	autosomal dominant non-syndromic intellectual disability 9	9.7	AP4S1 AP4B1
4	neuropathy, hereditary sensory, type iic	9.6	AP4E1 AP4B1
5	hermansky-pudlak syndrome 2	9.4	AP4M1 AP4E1
6	spastic paraplegia 32, autosomal recessive	9.4	AP4S1 AP4E1 AP4B1
7	spastic paraplegia 53, autosomal recessive	9.3	AP4S1 AP4E1 AP4B1
8	stuttering	9.2	AP4M1 AP4E1
9	hypertonia	9.1	AP4S1 AP4M1 AP4B1
10	hereditary spastic paraplegia	8.8	AP4S1 AP4M1 AP4E1 AP4B1
11	paraplegia	8.8	AP4S1 AP4M1 AP4E1 AP4B1
12	spastic paraplegia 52, autosomal recessive	8.8	AP4S1 AP4M1 AP4E1 AP4B1
13	spastic paraplegia 50, autosomal recessive	8.8	AP4S1 AP4M1 AP4E1 AP4B1
14	spastic paraplegia 47, autosomal recessive	8.8	AP4S1 AP4M1 AP4E1 AP4B1
15	quadriplegia	8.8	AP4S1 AP4M1 AP4E1 AP4B1
16	cerebral palsy	8.7	AP4S1 AP4M1 AP4E1 AP4B1

Graphical network of the top 20 diseases related to Spastic Paraplegia 51, Autosomal Recessive:

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Symptoms & Phenotypes for Spastic Paraplegia 51, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 51, Autosomal Recessive:

⁵⁸ ³¹ (show top 50) (show all 52)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	microcephaly ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000252
2	intellectual disability, severe ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0010864
3	progressive spastic paraplegia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0007020
4	coarse facial features ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000280
5	global developmental delay ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001263
6	short stature ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004322
7	hyperreflexia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001347
8	waddling gait ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002515
9	cerebral cortical atrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002120
10	bulbous nose ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000414
11	dystonia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001332
12	babinski sign ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003487
13	cerebellar atrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001272
14	difficulty walking ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002355
15	poor speech ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002465
16	drooling ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002307
17	facial hypotonia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000297
18	spastic dysarthria ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002464
19	pes planus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001763
20	stereotypy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000733
21	high palate ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000218
22	wide mouth ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000154
23	short philtrum ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000322
24	everted upper lip vermilion ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0010803
25	hypoplasia of the corpus callosum ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002079
26	abnormality of the periventricular white matter ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002518
27	narrow forehead ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000341
28	shyness ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0100962
29	overweight ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0025502
30	seizure ³¹	occasional (7.5%)		HP:0001250
31	strabismus ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0000486
32	genu recurvatum ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0002816
33	amblyopia ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0000646
34	generalized joint laxity ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0002761
35	acetabular dysplasia ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0008807
36	muscular hypotonia ⁵⁸		Very frequent (99-80%)
37	wide nasal bridge ³¹			HP:0000431
38	seizures ⁵⁸		Occasional (29-5%)
39	neonatal hypotonia ³¹			HP:0001319
40	flexion contracture ³¹			HP:0001371
41	spasticity ⁵⁸		Frequent (79-30%)
42	spastic tetraplegia ³¹			HP:0002510
43	decreased muscle mass ³¹			HP:0003199
44	nystagmus ³¹			HP:0000639
45	talipes equinovarus ³¹			HP:0001762
46	narrow face ³¹			HP:0000275
47	downslanted palpebral fissures ³¹			HP:0000494
48	ventriculomegaly ³¹			HP:0002119
49	pointed chin ³¹			HP:0000307
50	spastic paraplegia ³¹			HP:0001258

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Face:
coarse facial features
short philtrum
facial hypotonia
bitemporal narrowing
long narrow face
more

Neurologic Central Nervous System:
seizures
hyperreflexia
cerebellar atrophy
enlarged ventricles
extensor plantar responses
more

Growth Height:
short stature

Skeletal Feet:
talipes equinovarus

Head And Neck Ears:
prominent antihelix

Neurologic Behavioral Psychiatric Manifestations:
shy behavior
stereotypic laughter
amicable behavior

Head And Neck Nose:
wide nasal bridge
bulbous nose
long nose

Head And Neck Head:
microcephaly

Head And Neck Eyes:
nystagmus
downslanting palpebral fissures

Head And Neck Mouth:
wide mouth
drooling

Skeletal:
joint contractures

Muscle Soft Tissue:
hypotonia, neonatal and later
decreased muscle mass in the thighs

Clinical features from OMIM:

613744

UMLS symptoms related to Spastic Paraplegia 51, Autosomal Recessive:

seizures

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Drugs & Therapeutics for Spastic Paraplegia 51, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 51, Autosomal Recessive

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Genetic Tests for Spastic Paraplegia 51, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 51, Autosomal Recessive:

#	Genetic test	Affiliating Genes
1	Spastic Paraplegia 51, Autosomal Recessive ²⁹	AP4E1
2	Spastic Paraplegia 51 ²⁹

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Anatomical Context for Spastic Paraplegia 51, Autosomal Recessive

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Publications for Spastic Paraplegia 51, Autosomal Recessive

Articles related to Spastic Paraplegia 51, Autosomal Recessive:

(show all 14)

#	Title	Authors	PMID	Year
1	Deep sequencing reveals 50 novel genes for recessive cognitive disorders. ⁶ ⁵⁶	Najmabadi H...Ropers HH	21937992	2011
2	Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. ⁶ ⁵⁶	Abou Jamra R...Colleaux L	21620353	2011
3	Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. ⁶ ⁵⁶	Moreno-De-Luca A...Martin CL	20972249	2011
4	AP-4-Associated Hereditary Spastic Paraplegia ⁶	Ebrahimi-Fakhari D...Hirst J	30543385	2018
5	Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. ⁶	Hardies K...Hirst J	25552650	2015
6	An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome. ⁶	Abdollahpour H...Kutsche K	24781758	2015
7	Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features. ⁶	Tuysuz B...Gunel M	24700674	2014
8	Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . ⁶	Bauer P...Schols L	22290197	2012
9	Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. ⁶	Verkerk AJ...Mancini GM	19559397	2009
10	Practice parameter: diagnostic assessment of the child with cerebral palsy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. ⁶	Ashwal S...Practice Committee of the Child Neurology Society	15037681	2004
11	Hereditary Spastic Paraplegia Overview ⁶	Hedera P	20301682	2000
12	Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking. ⁶¹	Behne R...Ebrahimi-Fakhari D	31915823	2020
13	Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47). ⁶¹	Teinert J...Ebrahimi-Fakhari D	31525725	2019
14	Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. ⁶¹	Fink JK	23897027	2013

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Genes for Spastic Paraplegia 51, Autosomal Recessive

Genes related to Spastic Paraplegia 51, Autosomal Recessive (4 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	AP4E1	Adaptor Related Protein Complex 4 Subunit Epsilon 1	Protein Coding	1368.2	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	15037681 20972249 21937992 (more) 30543385 21620353
2	AP4B1	Adaptor Related Protein Complex 4 Subunit Beta 1	Protein Coding	350	Causative germline mutation ⁵⁸
3	AP4M1	Adaptor Related Protein Complex 4 Subunit Mu 1	Protein Coding	350	Causative germline mutation ⁵⁸
4	AP4S1	Adaptor Related Protein Complex 4 Subunit Sigma 1	Protein Coding	350	Causative germline mutation ⁵⁸

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Variations for Spastic Paraplegia 51, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 51, Autosomal Recessive:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	AP4E1	NC_000015.10:g.50755991_50948682del	deletion	Pathogenic	30659		15:51048188-51240879	15:50755991-50948682
2	AP4E1	AP4E1, 4-BP DEL, IVS5DS, 542+1GTAA	deletion	Pathogenic	30660
3	AP4E1	AP4E1, VAL454FS	insertion	Pathogenic	30661
4	AP4E1	NM_007347.5(AP4E1):c.1317-2A>C	SNV	Likely pathogenic	635026	rs1567230528	15:51242021-51242021	15:50949824-50949824
5	AP4E1	NM_007347.5(AP4E1):c.2149C>T (p.Pro717Ser)	SNV	Uncertain significance	458249	rs150743968	15:51285625-51285625	15:50993428-50993428
6	AP4E1	NM_007347.5(AP4E1):c.613C>A (p.His205Asn)	SNV	Uncertain significance	128402	rs148499164	15:51221276-51221276	15:50929079-50929079
7	AP4E1	NM_007347.5(AP4E1):c.222+18G>A	SNV	Benign	380768	rs1147129	15:51204364-51204364	15:50912167-50912167
8	AP4E1	NM_007347.5(AP4E1):c.3387G>A (p.Gln1129=)	SNV	Benign	128400	rs3825798	15:51294832-51294832	15:51002635-51002635
9	AP4E1	NM_007347.5(AP4E1):c.487T>C (p.Cys163Arg)	SNV	Benign	128401	rs2306331	15:51217361-51217361	15:50925164-50925164

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Expression for Spastic Paraplegia 51, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 51, Autosomal Recessive.

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Pathways for Spastic Paraplegia 51, Autosomal Recessive

Pathways related to Spastic Paraplegia 51, Autosomal Recessive according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Vesicle-mediated transport ⁶⁵ Show member pathways Membrane Trafficking ⁶⁵	12.56	AP4S1 AP4M1 AP4E1 AP4B1
2	Clathrin derived vesicle budding ⁶⁵ Show member pathways Golgi Associated Vesicle Biogenesis ⁶⁵ Lysosome Vesicle Biogenesis ⁶⁵ trans-Golgi Network Vesicle Budding ⁶⁵	11.64	AP4S1 AP4M1 AP4E1 AP4B1
3	Lysosome ³⁶	11.03	AP4S1 AP4M1 AP4E1 AP4B1

Sources

GO Terms for Spastic Paraplegia 51, Autosomal Recessive

Cellular components related to Spastic Paraplegia 51, Autosomal Recessive according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	Golgi apparatus	GO:0005794	9.62	AP4S1 AP4M1 AP4E1 AP4B1
2	trans-Golgi network membrane	GO:0032588	9.46	AP4S1 AP4M1 AP4E1 AP4B1
3	trans-Golgi network	GO:0005802	9.4	AP4M1 AP4B1
4	membrane coat	GO:0030117	9.37	AP4E1 AP4B1
5	clathrin adaptor complex	GO:0030131	9.26	AP4M1 AP4B1
6	endosome lumen	GO:0031904	9.26	AP4S1 AP4M1 AP4E1 AP4B1
7	AP-4 adaptor complex	GO:0030124	8.92	AP4S1 AP4M1 AP4E1 AP4B1

Biological processes related to Spastic Paraplegia 51, Autosomal Recessive according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein transport	GO:0015031	9.62	AP4S1 AP4M1 AP4E1 AP4B1
2	intracellular protein transport	GO:0006886	9.56	AP4S1 AP4M1 AP4E1 AP4B1
3	vesicle-mediated transport	GO:0016192	9.46	AP4S1 AP4M1 AP4E1 AP4B1
4	protein localization	GO:0008104	9.26	AP4S1 AP4M1 AP4E1 AP4B1
5	protein targeting	GO:0006605	8.92	AP4S1 AP4M1 AP4E1 AP4B1

Sources

Sources for Spastic Paraplegia 51, 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 HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Spastic Paraplegia 51, Autosomal Recessive (SPG51)

Aliases & Classifications for Spastic Paraplegia 51, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 51, Autosomal Recessive:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Spastic Paraplegia 51, Autosomal Recessive

Related Diseases for Spastic Paraplegia 51, Autosomal Recessive

Diseases in the Spastic Paraplegia 3a family:

Diseases related to Spastic Paraplegia 51, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Spastic Paraplegia 51, Autosomal Recessive:

Symptoms & Phenotypes for Spastic Paraplegia 51, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 51, Autosomal Recessive:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Spastic Paraplegia 51, Autosomal Recessive:

Drugs & Therapeutics for Spastic Paraplegia 51, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 51, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 51, Autosomal Recessive:

Anatomical Context for Spastic Paraplegia 51, Autosomal Recessive

Publications for Spastic Paraplegia 51, Autosomal Recessive

Articles related to Spastic Paraplegia 51, Autosomal Recessive:

Genes for Spastic Paraplegia 51, Autosomal Recessive

Genes related to Spastic Paraplegia 51, Autosomal Recessive (4 elite genes):

Variations for Spastic Paraplegia 51, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 51, Autosomal Recessive:

Expression for Spastic Paraplegia 51, Autosomal Recessive

Pathways for Spastic Paraplegia 51, Autosomal Recessive

Pathways related to Spastic Paraplegia 51, Autosomal Recessive according to GeneCards Suite gene sharing:

GO Terms for Spastic Paraplegia 51, Autosomal Recessive

Cellular components related to Spastic Paraplegia 51, Autosomal Recessive according to GeneCards Suite gene sharing:

Biological processes related to Spastic Paraplegia 51, Autosomal Recessive according to GeneCards Suite gene sharing:

Sources for Spastic Paraplegia 51, Autosomal Recessive