SPG51
MCID: SPS152
MIFTS: 43

Spastic Paraplegia 51, Autosomal Recessive (SPG51)

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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 57 19 73 38 71
Spg51 57 19 73
Severe Intellectual Disability and Progressive Spastic Paraplegia 19 58
Cerebral Palsy, Spastic Quadriplegic, 4 19 5
Ap4 Deficiency Syndrome 19 58
Spastic Paraplegia 51 19 28
Cpsq4 19 73
Cerebral Palsy, Spastic Quadriplegic, 4, Formerly 57
Autosomal Recessive Spastic Paraplegia 51 19
Cerebral Palsy, Spastic Quadriplegic 4 73
Cpsq4, Formerly 57

Characteristics:


Inheritance:

Spastic Paraplegia 51, Autosomal Recessive: Autosomal recessive 57
Severe Intellectual Disability and Progressive Spastic Paraplegia: Autosomal recessive 58

Prevelance:

Severe Intellectual Disability and Progressive Spastic Paraplegia: <1/1000000 (Worldwide) 58

Age Of Onset:

Severe Intellectual Disability and Progressive Spastic Paraplegia: Infancy,Neonatal 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
onset at birth


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spastic Paraplegia 51, Autosomal Recessive

UniProtKB/Swiss-Prot: 73 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 stuttering and 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 trans-Golgi Network Vesicle Budding. Affiliated tissues include brain and t cells, and related phenotypes are microcephaly and intellectual disability, severe

OMIM®: 57 Spastic paraplegia-51 (SPG51) is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity. Affected individuals also have global developmental delay with impaired intellectual development and poor or absent speech (summary by Moreno-De-Luca et al., 2011). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). (613744) (Updated 24-Oct-2022)

GARD: 19 Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.

Orphanet: 58 Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.

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 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 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 Spastic Paraplegia 83, Autosomal Recessive
Spastic Paraplegia 84, Autosomal Recessive Spastic Paraplegia 85, Autosomal Recessive
Spastic Paraplegia 86, Autosomal Recessive Spastic Paraplegia 87, Autosomal Recessive
Hereditary Spastic Paraplegia 23 Hereditary Spastic Paraplegia 30
Hereditary Spastic Paraplegia 35 Hereditary Spastic Paraplegia 49
Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 56
Hereditary Spastic Paraplegia 72 Hereditary Spastic Paraplegia
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 Spastic Paraplegia 15
Spastic Paraplegia 5b 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 24)
# Related Disease Score Top Affiliating Genes
1 stuttering 29.4 AP4M1 AP4E1
2 paraplegia 28.9 AP4S1 AP4M1 AP4E1 AP4B1
3 spastic paraplegia 50, autosomal recessive 28.8 AP4S1 AP4M1 AP4E1 AP4B1
4 hereditary spastic paraplegia 28.8 AP4S1 AP4M1 AP4E1 AP4B1
5 hereditary spastic paraplegia 51 11.4
6 spastic quadriplegia 11.0
7 spastic paraplegia 20, autosomal recessive 10.0
8 alacrima, achalasia, and mental retardation syndrome 10.0
9 microcephaly 10.0
10 henoch-schoenlein purpura 10.0
11 movement disease 10.0
12 spastic paraplegia 52, autosomal recessive 9.9 AP4S1 AP4E1
13 neuropathy, hereditary sensory, type iic 9.8 AP4S1 AP4B1
14 hereditary spastic paraplegia 49 9.8 AP4E1 AP4B1
15 hermansky-pudlak syndrome 2 9.7 AP4M1 AP4E1
16 spastic paraplegia 2, x-linked 9.6 AP4M1 AP4B1
17 spastic paraplegia 10, autosomal dominant 9.6 AP4S1 AP4E1 AP4B1
18 spastic paraplegia 47, autosomal recessive 9.2 AP4S1 AP4M1 AP4E1 AP4B1
19 spastic paraplegia 53, autosomal recessive 9.2 AP4S1 AP4M1 AP4E1 AP4B1
20 spastic cerebral palsy 9.2 AP4S1 AP4M1 AP4E1 AP4B1
21 cerebral palsy 9.2 AP4S1 AP4M1 AP4E1 AP4B1
22 spastic diplegia 9.2 AP4S1 AP4M1 AP4E1 AP4B1
23 nervous system disease 9.2 AP4M1 AP4E1 AP4B1
24 congenital nervous system abnormality 9.1 AP4S1 AP4M1 AP4E1 AP4B1

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



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:

58 30 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000252
2 intellectual disability, severe 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010864
3 progressive spastic paraplegia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007020
4 hyperreflexia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001347
5 coarse facial features 58 30 Frequent (33%) Frequent (79-30%)
HP:0000280
6 global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001263
7 short stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0004322
8 waddling gait 58 30 Frequent (33%) Frequent (79-30%)
HP:0002515
9 cerebral cortical atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0002120
10 bulbous nose 58 30 Frequent (33%) Frequent (79-30%)
HP:0000414
11 dystonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001332
12 babinski sign 58 30 Frequent (33%) Frequent (79-30%)
HP:0003487
13 difficulty walking 58 30 Frequent (33%) Frequent (79-30%)
HP:0002355
14 cerebellar atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0001272
15 poor speech 58 30 Frequent (33%) Frequent (79-30%)
HP:0002465
16 drooling 58 30 Frequent (33%) Frequent (79-30%)
HP:0002307
17 facial hypotonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000297
18 spastic dysarthria 58 30 Frequent (33%) Frequent (79-30%)
HP:0002464
19 high palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000218
20 pes planus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001763
21 short philtrum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000322
22 wide mouth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000154
23 everted upper lip vermilion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010803
24 hypoplasia of the corpus callosum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002079
25 narrow forehead 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000341
26 shyness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100962
27 overweight 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025502
28 seizure 30 Occasional (7.5%) HP:0001250
29 motor stereotypy 30 Occasional (7.5%) HP:0000733
30 abnormal periventricular white matter morphology 30 Occasional (7.5%) HP:0002518
31 strabismus 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000486
32 genu recurvatum 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002816
33 amblyopia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000646
34 generalized joint laxity 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002761
35 acetabular dysplasia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0008807
36 seizures 58 Occasional (29-5%)
37 spasticity 58 Frequent (79-30%)
38 nystagmus 30 HP:0000639
39 muscular hypotonia 58 Very frequent (99-80%)
40 wide nasal bridge 30 HP:0000431
41 neonatal hypotonia 30 HP:0001319
42 flexion contracture 30 HP:0001371
43 stereotypy 58 Occasional (29-5%)
44 spastic tetraplegia 30 HP:0002510
45 decreased muscle mass 30 HP:0003199
46 talipes equinovarus 30 HP:0001762
47 narrow face 30 HP:0000275
48 downslanted palpebral fissures 30 HP:0000494
49 ventriculomegaly 30 HP:0002119
50 pointed chin 30 HP:0000307

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Neurologic Central Nervous System:
seizures
hyperreflexia
cerebellar atrophy
enlarged ventricles
extensor plantar responses
more
Head And Neck Face:
coarse facial features
short philtrum
facial hypotonia
bitemporal narrowing
long narrow face
more
Head And Neck Head:
microcephaly

Skeletal Feet:
talipes equinovarus

Head And Neck Ears:
prominent antihelix

Neurologic Behavioral Psychiatric Manifestations:
shy behavior
stereotypic laughter
amicable behavior

Head And Neck Eyes:
nystagmus
downslanting palpebral fissures

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

Growth Height:
short stature

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 (Updated 24-Oct-2022)

UMLS symptoms related to Spastic Paraplegia 51, Autosomal Recessive:


seizures

Drugs & Therapeutics for Spastic Paraplegia 51, Autosomal Recessive

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP) Recruiting NCT04712812

Search NIH Clinical Center for Spastic Paraplegia 51, Autosomal Recessive

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 28

Anatomical Context for Spastic Paraplegia 51, Autosomal Recessive

Organs/tissues related to Spastic Paraplegia 51, Autosomal Recessive:

MalaCards : Brain, T Cells
ODiseA: Brain

Publications for Spastic Paraplegia 51, Autosomal Recessive

Articles related to Spastic Paraplegia 51, Autosomal Recessive:

(show all 16)
# Title Authors PMID Year
1
A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease. 57 5
23472171 2013
2
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 57 5
21937992 2011
3
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. 57 5
20972249 2011
4
Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency. 57
30127434 2018
5
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. 57
21620353 2011
6
Spastic paraplegia 51: phenotypic spectrum related to novel homozygous AP4E1 mutation. 62
36226339 2022
7
Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia. 62
34544818 2021
8
Childhood-onset hereditary spastic paraplegia and its treatable mimics. 62
34183250 2021
9
Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50). 62
34087981 2021
10
A new family with spastic paraplegia type 51 and novel mutations in AP4E1. 62
34006278 2021
11
[AP4-assocated hereditary spastic paraplegias]. 62
33728854 2021
12
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. 62
32979048 2020
13
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking. 62
31915823 2020
14
Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47). 62
31525725 2019
15
Contiguous mutation syndrome in the era of high-throughput sequencing. 62
26029708 2015
16
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 62
23897027 2013

Variations for Spastic Paraplegia 51, Autosomal Recessive

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

5 (show all 33)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AP4E1 NM_007347.5(AP4E1):c.3313C>T (p.Arg1105Ter) SNV Pathogenic
1031734 rs1313275799 GRCh37: 15:51294758-51294758
GRCh38: 15:51002561-51002561
2 overlap with 2 genes NC_000015.10:g.50755991_50948682del DEL Pathogenic
30659 GRCh37: 15:51048188-51240879
GRCh38: 15:50755991-50948682
3 AP4E1 NM_007347.5(AP4E1):c.942_943+3delinsCC INDEL Pathogenic
1064645 GRCh37: 15:51226893-51226897
GRCh38: 15:50934696-50934700
4 AP4E1 NM_007347.5(AP4E1):c.1359_1360insNN (p.Val454fs) INSERT Pathogenic
30661 GRCh37: 15:51242065-51242066
GRCh38: 15:50949868-50949869
5 AP4E1 NM_007347.5(AP4E1):c.542+5_542+8del MICROSAT Pathogenic
1344794 GRCh37: 15:51217414-51217417
GRCh38: 15:50925217-50925220
6 AP4E1 NM_007347.5(AP4E1):c.2804G>A (p.Trp935Ter) SNV Likely Pathogenic
1696296 GRCh37: 15:51289980-51289980
GRCh38: 15:50997783-50997783
7 AP4E1 NM_007347.5(AP4E1):c.1317-2A>C SNV Likely Pathogenic
635026 rs1567230528 GRCh37: 15:51242021-51242021
GRCh38: 15:50949824-50949824
8 AP4E1 NM_007347.5(AP4E1):c.326A>G (p.Asn109Ser) SNV Uncertain Significance
1029158 rs2063619601 GRCh37: 15:51207748-51207748
GRCh38: 15:50915551-50915551
9 AP4E1 NM_007347.5(AP4E1):c.613C>A (p.His205Asn) SNV Uncertain Significance
128402 rs148499164 GRCh37: 15:51221276-51221276
GRCh38: 15:50929079-50929079
10 AP4E1 NM_007347.5(AP4E1):c.2149C>T (p.Pro717Ser) SNV Uncertain Significance
458249 rs150743968 GRCh37: 15:51285625-51285625
GRCh38: 15:50993428-50993428
11 AP4E1 NM_007347.5(AP4E1):c.541A>C (p.Lys181Gln) SNV Uncertain Significance
946834 rs1404968090 GRCh37: 15:51217415-51217415
GRCh38: 15:50925218-50925218
12 AP4E1 NM_007347.5(AP4E1):c.1085A>G (p.Tyr362Cys) SNV Benign
128392 rs58909326 GRCh37: 15:51233881-51233881
GRCh38: 15:50941684-50941684
13 AP4E1 NM_007347.5(AP4E1):c.1283A>G (p.Asn428Ser) SNV Benign
128393 rs116796602 GRCh37: 15:51240323-51240323
GRCh38: 15:50948126-50948126
14 AP4E1 NM_007347.5(AP4E1):c.2429C>T (p.Thr810Ile) SNV Benign
128395 rs75130619 GRCh37: 15:51289605-51289605
GRCh38: 15:50997408-50997408
15 AP4E1 NM_007347.5(AP4E1):c.2755A>G (p.Met919Val) SNV Benign
128398 rs115188375 GRCh37: 15:51289931-51289931
GRCh38: 15:50997734-50997734
16 AP4E1 NM_007347.5(AP4E1):c.2905-8A>G SNV Benign
128399 rs56813592 GRCh37: 15:51291261-51291261
GRCh38: 15:50999064-50999064
17 AP4E1 NM_007347.5(AP4E1):c.1177-9T>C SNV Benign
210198 rs145851652 GRCh37: 15:51240208-51240208
GRCh38: 15:50948011-50948011
18 AP4E1 NM_007347.5(AP4E1):c.3117C>T (p.Asp1039=) SNV Benign
434237 rs752693324 GRCh37: 15:51293244-51293244
GRCh38: 15:51001047-51001047
19 AP4E1 NM_007347.5(AP4E1):c.3079C>T (p.Leu1027=) SNV Benign
508250 rs187436884 GRCh37: 15:51291443-51291443
GRCh38: 15:50999246-50999246
20 AP4E1 NM_007347.5(AP4E1):c.2346+10C>T SNV Benign
508353 rs112190952 GRCh37: 15:51285832-51285832
GRCh38: 15:50993635-50993635
21 AP4E1 NM_007347.5(AP4E1):c.542+11T>G SNV Benign
680002 rs58882998 GRCh37: 15:51217427-51217427
GRCh38: 15:50925230-50925230
22 AP4E1 NM_007347.5(AP4E1):c.171G>A (p.Gln57=) SNV Benign
695562 rs28463775 GRCh37: 15:51204295-51204295
GRCh38: 15:50912098-50912098
23 AP4E1 NM_007347.5(AP4E1):c.542+59G>A SNV Benign
678001 rs2306332 GRCh37: 15:51217475-51217475
GRCh38: 15:50925278-50925278
24 AP4E1 NM_007347.5(AP4E1):c.487T>C (p.Cys163Arg) SNV Benign
128401 rs2306331 GRCh37: 15:51217361-51217361
GRCh38: 15:50925164-50925164
25 AP4E1 NM_007347.5(AP4E1):c.3387G>A (p.Gln1129=) SNV Benign
128400 rs3825798 GRCh37: 15:51294832-51294832
GRCh38: 15:51002635-51002635
26 AP4E1 NM_007347.5(AP4E1):c.222+18G>A SNV Benign
380768 rs1147129 GRCh37: 15:51204364-51204364
GRCh38: 15:50912167-50912167
27 AP4E1 NM_007347.5(AP4E1):c.150+33A>G SNV Benign
677999 rs76674534 GRCh37: 15:51201158-51201158
GRCh38: 15:50908961-50908961
28 AP4E1 NM_007347.5(AP4E1):c.1066+51T>C SNV Benign
678150 rs2291107 GRCh37: 15:51233812-51233812
GRCh38: 15:50941615-50941615
29 AP4E1 NM_007347.5(AP4E1):c.1967-91A>G SNV Benign
1243701 GRCh37: 15:51276128-51276128
GRCh38: 15:50983931-50983931
30 AP4E1 NM_007347.5(AP4E1):c.3096-57dup DUP Benign
1245233 GRCh37: 15:51293164-51293165
GRCh38: 15:51000967-51000968
31 AP4E1 NM_007347.5(AP4E1):c.222+48_222+49insT INSERT Benign
1277493 GRCh37: 15:51204394-51204395
GRCh38: 15:50912197-50912198
32 AP4E1 NM_007347.5(AP4E1):c.1316+44_1316+54del DEL Benign
1278582 GRCh37: 15:51240399-51240409
GRCh38: 15:50948202-50948212
33 AP4E1 NM_007347.5(AP4E1):c.346+50G>C SNV Benign
1286033 GRCh37: 15:51207818-51207818
GRCh38: 15:50915621-50915621

Expression for Spastic Paraplegia 51, Autosomal Recessive

Search GEO for disease gene expression data 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.37 AP4S1 AP4M1 AP4E1 AP4B1
2
Show member pathways
11.14 AP4S1 AP4M1 AP4E1 AP4B1

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 trans-Golgi network GO:0005802 9.86 AP4B1 AP4E1 AP4M1 AP4S1
2 cytoplasmic vesicle GO:0031410 9.77 AP4S1 AP4M1 AP4E1 AP4B1
3 Golgi apparatus GO:0005794 9.76 AP4S1 AP4M1 AP4E1 AP4B1
4 trans-Golgi network membrane GO:0032588 9.76 AP4S1 AP4M1 AP4E1 AP4B1
5 clathrin adaptor complex GO:0030131 9.62 AP4M1 AP4B1
6 endosome lumen GO:0031904 9.56 AP4S1 AP4M1 AP4E1 AP4B1
7 endomembrane system GO:0012505 9.48 AP4S1 AP4M1
8 membrane coat GO:0030117 9.43 AP4E1 AP4B1
9 AP-type membrane coat adaptor complex GO:0030119 9.4 AP4S1 AP4M1
10 AP-4 adaptor complex GO:0030124 9.23 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 vesicle-mediated transport GO:0016192 9.76 AP4S1 AP4M1 AP4E1 AP4B1
2 intracellular protein transport GO:0006886 9.65 AP4S1 AP4M1 AP4E1 AP4B1
3 protein transport GO:0015031 9.62 AP4S1 AP4M1 AP4E1 AP4B1
4 protein localization GO:0008104 9.56 AP4S1 AP4M1 AP4E1 AP4B1
5 protein targeting GO:0006605 9.23 AP4S1 AP4M1 AP4E1 AP4B1

Sources for Spastic Paraplegia 51, Autosomal Recessive

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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