CPSQ4
MCID: HRD186
MIFTS: 30

Hereditary Spastic Paraplegia 51 (CPSQ4)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Hereditary Spastic Paraplegia 51

MalaCards integrated aliases for Hereditary Spastic Paraplegia 51:

Name: Hereditary Spastic Paraplegia 51 12 15
Palsy, Cerebral, Spastic Quadriplegic, Type 4 39
Spastic Paraplegia 51, Autosomal Recessive 70
Autosomal Dominant Spastic Paraplegia 51 12
Cerebral Palsy, Spastic Quadriplegic, 4 6
Spastic Quadriplegic Cerebral Palsy 4 12
Spg51 12
Cpsq4 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110803
UMLS 70 C3151056

Summaries for Hereditary Spastic Paraplegia 51

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the AP4E1 gene on chromosome 15q21.

MalaCards based summary : Hereditary Spastic Paraplegia 51, also known as palsy, cerebral, spastic quadriplegic, type 4, is related to spastic paraplegia 51, autosomal recessive and horner's syndrome, and has symptoms including seizures An important gene associated with Hereditary Spastic Paraplegia 51 is AP4E1 (Adaptor Related Protein Complex 4 Subunit Epsilon 1), and among its related pathways/superpathways are Clathrin derived vesicle budding and Lysosome. Related phenotypes are behavior/neurological and nervous system

Related Diseases for Hereditary Spastic Paraplegia 51

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
Spastic Paraplegia 83, 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 Hereditary Spastic Paraplegia 51 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 51, autosomal recessive 11.4
2 horner's syndrome 10.2 AP4S1 AP4B1
3 hermansky-pudlak syndrome 2 10.2 AP4M1 AP4E1
4 pitt-hopkins-like syndrome 1 10.1 RIPPLY1 AP4E1
5 complex hereditary spastic paraplegia 10.1 SPG7 SPG11
6 bardet-biedl syndrome 9 10.1 RIPPLY1 AP4E1
7 spastic paraplegia 29, autosomal dominant 10.1 ZFYVE26 SPG21
8 spastic paraplegia 25, autosomal recessive 10.1 ZFYVE26 SPG21
9 spastic paraplegia 19, autosomal dominant 10.1 ZFYVE26 SPG21
10 spastic paraplegia 37, autosomal dominant 10.1 ZFYVE26 SPG21
11 spastic paraplegia 34, x-linked 10.1 ZFYVE26 SPG21
12 spastic cerebral palsy 10.0 AP4S1 AP4B1
13 charcot-marie-tooth disease, axonal, type 2r 10.0 ZFYVE26 SPG21
14 mast syndrome 10.0 SPG21 SPG11
15 spastic paraplegia 7, autosomal recessive 10.0 SPG7 SPG11
16 charcot-marie-tooth disease, axonal, type 2t 10.0 ZFYVE26 SPG21
17 spastic paraplegia, optic atrophy, and neuropathy 10.0 AP5Z1 AP4S1
18 spinocerebellar ataxia, autosomal recessive 20 10.0 ZFYVE26 SPG11
19 ap-4-associated hereditary spastic paraplegia 10.0 AP4S1 AP4M1 AP4E1 AP4B1
20 spastic diplegia 9.9 AP4S1 AP4M1 AP4E1 AP4B1
21 quadriplegia 9.9 AP4S1 AP4M1 AP4E1 AP4B1
22 hereditary spastic paraplegia 23 9.9 ZFYVE26 SPG21 SPG11
23 cerebral palsy 9.9 AP4S1 AP4M1 AP4E1 AP4B1
24 neuropathy, hereditary sensory, type iic 9.9 SPG21 SPG11 AP4E1 AP4B1
25 spastic paraplegia 16, x-linked 9.9 SPG7 SPG21 SPG11
26 spastic paraplegia 14, autosomal recessive 9.9 SPG7 SPG21 SPG11
27 spastic paraplegia 26, autosomal recessive 9.9 SPG21 SPG11 PGAP1
28 spastic paraplegia 5a, autosomal recessive 9.9 ZFYVE26 SPG7 SPG11
29 spastic paraplegia 3, autosomal dominant 9.8 SPG7 SPG11
30 motor peripheral neuropathy 9.8 ZFYVE26 SPG7 SPG11
31 nescav syndrome 9.8 ZFYVE26 AP5Z1 AP4S1
32 spastic paraplegia 20, autosomal recessive 9.8 ZFYVE26 SPG7 SPG21
33 spastic paraplegia 53, autosomal recessive 9.8 AP5Z1 AP4S1 AP4E1 AP4B1
34 amyotrophic lateral sclerosis type 5 9.8 ZFYVE26 SPG11 AP5Z1
35 spastic paraplegia 28, autosomal recessive 9.8 SPG7 SPG11 AP5Z1
36 spastic paraplegia 45, autosomal recessive 9.8 SPG21 SPG11 PGAP1 AP4E1
37 spastic paraparesis 9.7 SPG7 SPG11
38 spastic paraplegia 64, autosomal recessive 9.7 ZFYVE26 SPG21 SPG11 PGAP1
39 spastic paraplegia 49, autosomal recessive 9.7 ZFYVE26 SPG7 SPG21 SPG11
40 spastic paraplegia 55, autosomal recessive 9.7 ZFYVE26 SPG7 SPG21 SPG11
41 spastic paraplegia 61, autosomal recessive 9.6 ZFYVE26 SPG21 SPG11 AP5Z1
42 charcot-marie-tooth disease, axonal, type 2e 9.6 ZFYVE26 SPG7 SPG21 SPG11
43 spastic paraplegia 33, autosomal dominant 9.6 ZFYVE26 SPG21 SPG11 AP5Z1
44 spastic paraplegia 12, autosomal dominant 9.6 ZFYVE26 SPG21 SPG11 AP5Z1
45 hereditary spastic paraplegia 30 9.6 SPG7 SPG21 SPG11 AP5Z1
46 spastic paraplegia 44, autosomal recessive 9.6 SPG21 SPG11 PGAP1 AP5Z1
47 spastic paraplegia 54, autosomal recessive 9.6 SPG7 SPG21 SPG11 AP5Z1
48 spastic paraplegia 13, autosomal dominant 9.6 SPG7 SPG21 SPG11 AP5Z1
49 hereditary spastic paraplegia 72 9.6 ZFYVE26 SPG7 SPG11 AP5Z1
50 spastic paraplegia 42, autosomal dominant 9.5 ZFYVE26 SPG7 SPG11 AP5Z1

Graphical network of the top 20 diseases related to Hereditary Spastic Paraplegia 51:



Diseases related to Hereditary Spastic Paraplegia 51

Symptoms & Phenotypes for Hereditary Spastic Paraplegia 51

UMLS symptoms related to Hereditary Spastic Paraplegia 51:


seizures

MGI Mouse Phenotypes related to Hereditary Spastic Paraplegia 51:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.56 AP4B1 AP4E1 AP5Z1 PGAP1 SPG11 SPG21
2 nervous system MP:0003631 9.23 AP4B1 AP4E1 AP5Z1 PGAP1 SPG11 SPG21

Drugs & Therapeutics for Hereditary Spastic Paraplegia 51

Search Clinical Trials , NIH Clinical Center for Hereditary Spastic Paraplegia 51

Genetic Tests for Hereditary Spastic Paraplegia 51

Anatomical Context for Hereditary Spastic Paraplegia 51

Publications for Hereditary Spastic Paraplegia 51

Articles related to Hereditary Spastic Paraplegia 51:

# Title Authors PMID Year
1
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 6
21937992 2011
2
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. 6
21620353 2011
3
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. 6
20972249 2011
4
[AP4-assocated hereditary spastic paraplegias]. 61
33728854 2021
5
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. 61
32979048 2020
6
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking. 61
31915823 2020
7
Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47). 61
31525725 2019
8
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 61
23897027 2013

Variations for Hereditary Spastic Paraplegia 51

ClinVar genetic disease variations for Hereditary Spastic Paraplegia 51:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AP4E1 AP4E1, 4-BP DEL, IVS5DS, 542+1GTAA Deletion Pathogenic 30660 GRCh37:
GRCh38:
2 AP4E1 AP4E1, VAL454FS Insertion Pathogenic 30661 GRCh37:
GRCh38:
3 overlap with 2 genes NC_000015.10:g.50755991_50948682del Deletion Pathogenic 30659 GRCh37: 15:51048188-51240879
GRCh38: 15:50755991-50948682
4 AP4E1 NM_007347.5(AP4E1):c.1317-2A>C SNV Likely pathogenic 635026 rs1567230528 GRCh37: 15:51242021-51242021
GRCh38: 15:50949824-50949824
5 AP4E1 NM_007347.5(AP4E1):c.326A>G (p.Asn109Ser) SNV Uncertain significance 1029158 GRCh37: 15:51207748-51207748
GRCh38: 15:50915551-50915551
6 AP4E1 NM_007347.5(AP4E1):c.541A>C (p.Lys181Gln) SNV Uncertain significance 946834 GRCh37: 15:51217415-51217415
GRCh38: 15:50925218-50925218
7 AP4E1 NM_007347.5(AP4E1):c.613C>A (p.His205Asn) SNV Uncertain significance 128402 rs148499164 GRCh37: 15:51221276-51221276
GRCh38: 15:50929079-50929079
8 AP4E1 NM_007347.5(AP4E1):c.2149C>T (p.Pro717Ser) SNV Uncertain significance 458249 rs150743968 GRCh37: 15:51285625-51285625
GRCh38: 15:50993428-50993428
9 AP4E1 NM_007347.5(AP4E1):c.487T>C (p.Cys163Arg) SNV Benign 128401 rs2306331 GRCh37: 15:51217361-51217361
GRCh38: 15:50925164-50925164
10 AP4E1 NM_007347.5(AP4E1):c.3387G>A (p.Gln1129=) SNV Benign 128400 rs3825798 GRCh37: 15:51294832-51294832
GRCh38: 15:51002635-51002635
11 AP4E1 NM_007347.5(AP4E1):c.222+18G>A SNV Benign 380768 rs1147129 GRCh37: 15:51204364-51204364
GRCh38: 15:50912167-50912167

Expression for Hereditary Spastic Paraplegia 51

Search GEO for disease gene expression data for Hereditary Spastic Paraplegia 51.

Pathways for Hereditary Spastic Paraplegia 51

Pathways related to Hereditary Spastic Paraplegia 51 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.64 AP4S1 AP4M1 AP4E1 AP4B1
2 11.03 AP4S1 AP4M1 AP4E1 AP4B1

GO Terms for Hereditary Spastic Paraplegia 51

Cellular components related to Hereditary Spastic Paraplegia 51 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.8 SPG21 ATG9A AP4S1 AP4M1 AP4E1 AP4B1
2 trans-Golgi network GO:0005802 9.54 ATG9A AP4M1 AP4B1
3 trans-Golgi network membrane GO:0032588 9.46 AP4S1 AP4M1 AP4E1 AP4B1
4 membrane coat GO:0030117 9.4 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 Hereditary Spastic Paraplegia 51 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular protein transport GO:0006886 9.62 AP4S1 AP4M1 AP4E1 AP4B1
2 vesicle-mediated transport GO:0016192 9.56 AP4S1 AP4M1 AP4E1 AP4B1
3 protein transport GO:0015031 9.5 PGAP1 ATG9A AP5Z1 AP4S1 AP4M1 AP4E1
4 protein localization GO:0008104 9.46 AP4S1 AP4M1 AP4E1 AP4B1
5 embryonic pattern specification GO:0009880 9.37 RIPPLY1 PGAP1
6 protein targeting GO:0006605 8.92 AP4S1 AP4M1 AP4E1 AP4B1

Sources for Hereditary Spastic Paraplegia 51

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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