SPG53
MCID: SPS104
MIFTS: 38

Spastic Paraplegia 53, Autosomal Recessive (SPG53)

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

Aliases & Classifications for Spastic Paraplegia 53, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 53, Autosomal Recessive:

Name: Spastic Paraplegia 53, Autosomal Recessive 56 73 29 13 6 71
Spg53 56 12 58 73
Autosomal Recessive Spastic Paraplegia Type 53 12 58
Hereditary Spastic Paraplegia 53 12 15
Paraplegia, Spastic, Type 53, Autosomal Recessive 39
Autosomal Recessive Spastic Paraplegia 53 12

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic paraplegia type 53
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in the first 2 years of life
two arab muslim families have been reported (last curated october 2012)


HPO:

31
spastic paraplegia 53, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spastic Paraplegia 53, Autosomal Recessive

UniProtKB/Swiss-Prot : 73 Spastic paraplegia 53, autosomal recessive: A 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. SPG53 is characterized by pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis.

MalaCards based summary : Spastic Paraplegia 53, Autosomal Recessive, also known as spg53, is related to spastic paraplegia 29, autosomal dominant and spastic paraplegia 16, x-linked, and has symptoms including clonus An important gene associated with Spastic Paraplegia 53, Autosomal Recessive is VPS37A (VPS37A Subunit Of ESCRT-I), and among its related pathways/superpathways are Clathrin derived vesicle budding and Lysosome. Related phenotypes are clonus and hyperreflexia in upper limbs

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the VPS37A gene on chromosome 8p22.

OMIM : 56 SPG53 is an autosomal recessive neurologic disorder characterized by onset in infancy of delayed motor development progressing to upper and lower limb spasticity with impaired walking. Affected individuals also show mild to moderate cognitive impairment (summary by Zivony-Elboum et al., 2012). (614898)

Related Diseases for Spastic Paraplegia 53, 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 53, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 50, show less)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 29, autosomal dominant 10.1 WASHC5 SLC33A1
2 spastic paraplegia 16, x-linked 10.1 WASHC5 SLC33A1
3 hereditary spastic paraplegia 23 10.1 WASHC5 SLC33A1
4 spastic paraplegia 25, autosomal recessive 10.1 WASHC5 SLC33A1
5 spastic paraplegia 19, autosomal dominant 10.1 WASHC5 SLC33A1
6 spastic paraplegia 37, autosomal dominant 10.1 WASHC5 SLC33A1
7 spastic paraplegia 34, x-linked 10.1 WASHC5 SLC33A1
8 spastic paraplegia 14, autosomal recessive 10.0 SLC33A1 ATL1
9 pure hereditary spastic paraplegia 10.0 RTN2 ATL1
10 hypertonia 9.9 AP4S1 AP4B1
11 spastic paraplegia 44, autosomal recessive 9.9 SLC33A1 AP5Z1
12 spastic paraplegia 18, autosomal recessive 9.9 WASHC5 AP5Z1
13 spastic paraplegia 56, autosomal recessive 9.9 AP5Z1 AP4S1
14 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 9.8 RTN2 AP5Z1
15 spastic paraplegia 35, autosomal recessive 9.8 WASHC5 AP5Z1
16 spastic paraplegia 17, autosomal dominant 9.7 WASHC5 ATL1
17 spastic paraplegia 15, autosomal recessive 9.7 WASHC5 ATL1 AP5Z1
18 spastic paraplegia 3, autosomal dominant 9.7 WASHC5 RTN2 ATL1
19 spastic paraplegia 43, autosomal recessive 9.6 WASHC5 VPS37A SLC33A1 ATL1
20 hereditary spastic paraplegia 72 9.6 RTN2 ATL1 AP5Z1
21 spastic paraplegia 61, autosomal recessive 9.6 RTN2 ATL1 AP5Z1
22 spastic paraplegia, optic atrophy, and neuropathy 9.6 WASHC5 VPS37A AP5Z1 AP4S1
23 neuronopathy, distal hereditary motor, type va 9.5 RTN2 ATL1
24 spastic paraplegia 6, autosomal dominant 9.5 WASHC5 SLC33A1 ATL1 AP5Z1
25 spastic paraplegia 8, autosomal dominant 9.5 WASHC5 SLC33A1 ATL1 AP5Z1
26 ap-4-associated hereditary spastic paraplegia 9.4 AP4S1 AP4E1 AP4B1
27 spastic paraplegia 13, autosomal dominant 9.4 SLC33A1 RTN2 ATL1 AP5Z1
28 spastic paraplegia 51, autosomal recessive 9.4 AP4S1 AP4E1 AP4B1
29 quadriplegia 9.4 AP4S1 AP4E1 AP4B1
30 spastic paraplegia 33, autosomal dominant 9.4 WASHC5 RTN2 ATL1 AP5Z1
31 spastic paraplegia 12, autosomal dominant 9.3 WASHC5 RTN2 ATL1 AP5Z1
32 spastic paraplegia 31, autosomal dominant 9.3 WASHC5 RTN2 ATL1 AP5Z1
33 spastic paraplegia 10, autosomal dominant 9.3 WASHC5 RTN2 ATL1 AP5Z1
34 spastic paraplegia 2, x-linked 9.3 WASHC5 RTN2 ATL1 AP5Z1
35 masa syndrome 9.3 WASHC5 RTN2 ATL1 AP5Z1
36 hereditary spastic paraplegia 30 9.3 WASHC5 ATL1 AP5Z1 AP4B1
37 neuropathy, hereditary sensory, type iic 9.3 RTN2 AP4E1 AP4B1
38 spastic paraplegia 39, autosomal recessive 9.3 WASHC5 VPS37A SLC33A1 ATL1 AP5Z1
39 spastic paraplegia 4, autosomal dominant 9.1 WASHC5 SLC33A1 RTN2 ATL1 AP5Z1
40 autosomal dominant non-syndromic intellectual disability 9 9.0 VPS37A RTN2 AP5Z1 AP4S1 AP4B1
41 cerebral palsy 9.0 ATL1 AP4S1 AP4E1 AP4B1
42 spastic paraplegia 42, autosomal dominant 8.9 WASHC5 VPS37A SLC33A1 RTN2 ATL1 AP5Z1
43 spastic paraplegia 32, autosomal recessive 8.9 WASHC5 SLC33A1 AP4S1 AP4E1 AP4B1
44 spastic paraplegia 48, autosomal recessive 8.7 WASHC5 RTN2 ATL1 AP5Z1 AP4E1
45 spastic paraplegia 47, autosomal recessive 8.7 WASHC5 AP5Z1 AP4S1 AP4E1 AP4B1
46 hereditary spastic paraplegia 51 8.7 RTN2 AP5Z1 AP4S1 AP4E1 AP4B1
47 spastic paraplegia 52, autosomal recessive 8.7 RTN2 AP5Z1 AP4S1 AP4E1 AP4B1
48 spastic paraplegia 50, autosomal recessive 8.4 VPS37A RTN2 AP5Z1 AP4S1 AP4E1 AP4B1
49 paraplegia 7.5 WASHC5 VPS37A SLC33A1 RTN2 ATL1 AP5Z1
50 hereditary spastic paraplegia 7.5 WASHC5 VPS37A SLC33A1 RTN2 ATL1 AP5Z1

Graphical network of the top 20 diseases related to Spastic Paraplegia 53, Autosomal Recessive:



Diseases related to Spastic Paraplegia 53, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 53, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 53, Autosomal Recessive:

58 31 (showing 23, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 clonus 58 31 hallmark (90%) Very frequent (99-80%) HP:0002169
2 hyperreflexia in upper limbs 58 31 hallmark (90%) Very frequent (99-80%) HP:0007350
3 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
4 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
5 pectus carinatum 58 31 occasional (7.5%) Frequent (79-30%) HP:0000768
6 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
7 upper limb hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0200049
8 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
9 impaired vibratory sensation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002495
10 limb dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002451
11 dystonia 31 occasional (7.5%) HP:0001332
12 microcephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0000252
13 failure to thrive 58 31 very rare (1%) Very rare (<4-1%) HP:0001508
14 ventriculomegaly 58 31 very rare (1%) Very rare (<4-1%) HP:0002119
15 impaired proprioception 58 31 very rare (1%) Very rare (<4-1%) HP:0010831
16 cortical dysplasia 58 31 very rare (1%) Very rare (<4-1%) HP:0002539
17 abnormality of the auditory canal 58 31 very rare (1%) Very rare (<4-1%) HP:0000372
18 global developmental delay 31 HP:0001263
19 hypertonia 31 HP:0001276
20 cognitive impairment 31 HP:0100543
21 gait disturbance 31 HP:0001288
22 spastic paraplegia 31 HP:0001258
23 hypertrichosis 31 HP:0000998

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
kyphosis

Muscle Soft Tissue:
increased muscle tone

Skin Nails Hair Hair:
hypertrichosis (in 3 patients)

Neurologic Central Nervous System:
hyperreflexia
clonus
delayed psychomotor development
gait difficulties
delayed speech
more
Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum (in some)

Neurologic Peripheral Nervous System:
decreased vibration or position sense (in 3 patients)

Clinical features from OMIM:

614898

UMLS symptoms related to Spastic Paraplegia 53, Autosomal Recessive:


clonus

Drugs & Therapeutics for Spastic Paraplegia 53, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 53, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 53, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 53, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 53, Autosomal Recessive 29 VPS37A

Anatomical Context for Spastic Paraplegia 53, Autosomal Recessive

Publications for Spastic Paraplegia 53, Autosomal Recessive

Articles related to Spastic Paraplegia 53, Autosomal Recessive:

(showing 2, show less)
# Title Authors PMID Year
1
A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis. 6 56
22717650 2012
2
Hereditary Spastic Paraplegia Overview 6
20301682 2000

Variations for Spastic Paraplegia 53, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 53, Autosomal Recessive:

6 (showing 29, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 VPS37A NM_152415.3(VPS37A):c.1146A>T (p.Lys382Asn)SNV Pathogenic 39741 rs211694394 8:17143888-17143888 8:17286379-17286379
2 VPS37A NM_152415.3(VPS37A):c.700C>A (p.Leu234Ile)SNV Conflicting interpretations of pathogenicity 522587 rs150912414 8:17133963-17133963 8:17276454-17276454
3 VPS37A NM_152415.3(VPS37A):c.1145A>C (p.Lys382Thr)SNV Uncertain significance 473066 rs1554498242 8:17143887-17143887 8:17286378-17286378
4 VPS37A NM_152415.3(VPS37A):c.866G>A (p.Ser289Asn)SNV Uncertain significance 473068 rs376210724 8:17137772-17137772 8:17280263-17280263
5 VPS37A NM_152415.3(VPS37A):c.526G>T (p.Ala176Ser)SNV Uncertain significance 576912 rs1346953622 8:17132351-17132351 8:17274842-17274842
6 VPS37A NM_152415.3(VPS37A):c.787A>C (p.Lys263Gln)SNV Uncertain significance 569194 rs199781923 8:17137610-17137610 8:17280101-17280101
7 VPS37A NM_152415.3(VPS37A):c.430C>A (p.Pro144Thr)SNV Uncertain significance 579627 rs373775451 8:17132255-17132255 8:17274746-17274746
8 VPS37A NM_152415.3(VPS37A):c.512C>G (p.Thr171Ser)SNV Uncertain significance 574574 rs200401367 8:17132337-17132337 8:17274828-17274828
9 VPS37A NM_152415.3(VPS37A):c.577G>T (p.Ala193Ser)SNV Uncertain significance 570283 rs374964443 8:17132402-17132402 8:17274893-17274893
10 VPS37A NM_152415.3(VPS37A):c.361G>A (p.Asp121Asn)SNV Uncertain significance 658146 8:17126410-17126410 8:17268901-17268901
11 VPS37A NM_152415.3(VPS37A):c.421T>C (p.Tyr141His)SNV Uncertain significance 646254 8:17132246-17132246 8:17274737-17274737
12 VPS37A NM_152415.3(VPS37A):c.1053C>G (p.Asp351Glu)SNV Uncertain significance 664639 8:17142065-17142065 8:17284556-17284556
13 VPS37A NM_152415.3(VPS37A):c.1162G>T (p.Ala388Ser)SNV Uncertain significance 663795 8:17143904-17143904 8:17286395-17286395
14 VPS37A NM_152415.3(VPS37A):c.969+6A>GSNV Uncertain significance 640364 8:17137958-17137958 8:17280449-17280449
15 VPS37A NM_152415.3(VPS37A):c.296C>A (p.Thr99Asn)SNV Uncertain significance 863407 8:17125862-17125862 8:17268353-17268353
16 VPS37A NM_152415.3(VPS37A):c.526G>A (p.Ala176Thr)SNV Uncertain significance 844222 8:17132351-17132351 8:17274842-17274842
17 VPS37A NM_152415.3(VPS37A):c.532A>C (p.Thr178Pro)SNV Uncertain significance 859167 8:17132357-17132357 8:17274848-17274848
18 VPS37A NM_152415.3(VPS37A):c.625G>A (p.Val209Met)SNV Uncertain significance 845714 8:17132450-17132450 8:17274941-17274941
19 VPS37A NM_152415.3(VPS37A):c.1165A>T (p.Met389Leu)SNV Uncertain significance 860233 8:17143907-17143907 8:17286398-17286398
20 VPS37A NM_152415.3(VPS37A):c.96G>C (p.Leu32=)SNV Likely benign 540285 rs199577037 8:17104849-17104849 8:17247340-17247340
21 VPS37A NM_152415.3(VPS37A):c.446C>T (p.Pro149Leu)SNV Likely benign 696204 8:17132271-17132271 8:17274762-17274762
22 VPS37A NM_152415.3(VPS37A):c.72C>T (p.Ser24=)SNV Likely benign 734676 8:17104825-17104825 8:17247316-17247316
23 VPS37A NM_152415.3(VPS37A):c.642+9C>TSNV Likely benign 779035 8:17132476-17132476 8:17274967-17274967
24 VPS37A NM_152415.3(VPS37A):c.834A>G (p.Glu278=)SNV Benign/Likely benign 540286 rs541623528 8:17137657-17137657 8:17280148-17280148
25 VPS37A NM_152415.3(VPS37A):c.1176A>G (p.Gln392=)SNV Benign 473067 rs117336150 8:17143918-17143918 8:17286409-17286409
26 VPS37A NM_152415.3(VPS37A):c.125+8G>ASNV Benign 509802 rs145945235 8:17104886-17104886 8:17247377-17247377
27 VPS37A NM_152415.3(VPS37A):c.24C>T (p.Thr8=)SNV Benign 696459 8:17104777-17104777 8:17247268-17247268
28 VPS37A NM_152415.3(VPS37A):c.637A>G (p.Ile213Val)SNV Benign 284157 rs17687375 8:17132462-17132462 8:17274953-17274953
29 VPS37A NM_152415.3(VPS37A):c.616A>T (p.Ile206Phe)SNV Benign 383980 rs17502618 8:17132441-17132441 8:17274932-17274932

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 53, Autosomal Recessive:

73 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 VPS37A p.Lys382Asn VAR_068424 rs211694394

Expression for Spastic Paraplegia 53, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 53, Autosomal Recessive.

Pathways for Spastic Paraplegia 53, Autosomal Recessive

Pathways related to Spastic Paraplegia 53, Autosomal Recessive according to GeneCards Suite gene sharing:

(showing 2, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.51 AP4S1 AP4E1 AP4B1
2 10.91 AP4S1 AP4E1 AP4B1

GO Terms for Spastic Paraplegia 53, Autosomal Recessive

Cellular components related to Spastic Paraplegia 53, Autosomal Recessive according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 trans-Golgi network membrane GO:0032588 9.33 AP4S1 AP4E1 AP4B1
2 membrane coat GO:0030117 9.26 AP4E1 AP4B1
3 endosome lumen GO:0031904 9.13 AP4S1 AP4E1 AP4B1
4 AP-4 adaptor complex GO:0030124 8.8 AP4S1 AP4E1 AP4B1

Biological processes related to Spastic Paraplegia 53, Autosomal Recessive according to GeneCards Suite gene sharing:

(showing 6, show less)
# Name GO ID Score Top Affiliating Genes
1 intracellular protein transport GO:0006886 9.54 AP4S1 AP4E1 AP4B1
2 vesicle-mediated transport GO:0016192 9.5 AP4S1 AP4E1 AP4B1
3 endosomal transport GO:0016197 9.43 WASHC5 VPS37A AP5Z1
4 protein localization GO:0008104 9.33 AP4S1 AP4E1 AP4B1
5 protein targeting GO:0006605 9.13 AP4S1 AP4E1 AP4B1
6 protein transport GO:0015031 9.1 WASHC5 VPS37A AP5Z1 AP4S1 AP4E1 AP4B1

Sources for Spastic Paraplegia 53, Autosomal Recessive

3 CDC
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