MCID: HRD186
MIFTS: 27

Hereditary Spastic Paraplegia 51

Categories: Neuronal diseases, Genetic diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic diseases

Aliases & Classifications for Hereditary Spastic Paraplegia 51

MalaCards integrated aliases for Hereditary Spastic Paraplegia 51:

Name: Hereditary Spastic Paraplegia 51 12 15
Spastic Paraplegia 51, Autosomal Recessive 73
Autosomal Dominant Spastic Paraplegia 51 12
Spastic Quadriplegic Cerebral Palsy 4 12
Spg51 12
Cpsq4 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110803
UMLS 73 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 spastic paraplegia 51, autosomal recessive, is related to spastic paraplegia 51, autosomal recessive and spastic paraplegia 51, and has symptoms including seizures An important gene associated with Hereditary Spastic Paraplegia 51 is AP4S1 (Adaptor Related Protein Complex 4 Subunit Sigma 1), and among its related pathways/superpathways are Vesicle-mediated transport and Clathrin derived vesicle budding.

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 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
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

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

(show all 17)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 51, autosomal recessive 11.6
2 spastic paraplegia 51 10.9
3 spastic paraplegia 56, autosomal recessive 10.0 AP4S1 RTN2
4 spastic paraplegia 33, autosomal dominant 9.8 AP5Z1 RTN2
5 spastic paraplegia 31, autosomal dominant 9.8 AP5Z1 RTN2
6 severe intellectual disability and progressive spastic paraplegia 9.7 AP4B1 AP4S1
7 spastic paraplegia 2, x-linked 9.7 AP5Z1 RTN2
8 spastic paraplegia 12, autosomal dominant 9.7 AP5Z1 RTN2
9 spastic paraplegia 10, autosomal dominant 9.6 AP5Z1 RTN2
10 spastic paraplegia 47, autosomal recessive 9.5 AP4B1 AP5Z1
11 spastic paraplegia 54, autosomal recessive 9.4 AP4S1 AP5Z1 RTN2
12 cerebral palsy 9.3 AP4B1 AP4S1
13 paraplegia 9.2 AP5Z1 RTN2
14 hereditary spastic paraplegia 8.9 AP4B1 AP5Z1 RTN2
15 spastic paraplegia 50, autosomal recessive 8.4 AP4B1 AP4S1 AP5Z1 RTN2
16 spastic paraplegia 28, autosomal recessive 8.4 AP4B1 AP4S1 AP5Z1 RTN2
17 spastic paraplegia 52, autosomal recessive 7.8 AP4B1 AP4S1 AP5Z1 RTN2 VPS37A

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

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

Variations for Hereditary Spastic Paraplegia 51

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
12.44 AP4B1 AP4S1 VPS37A
2
Show member pathways
11.33 AP4B1 AP4S1
3 10.71 AP4B1 AP4S1

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 trans-Golgi network membrane GO:0032588 9.16 AP4B1 AP4S1
2 endosome lumen GO:0031904 8.96 AP4B1 AP4S1
3 AP-4 adaptor complex GO:0030124 8.62 AP4B1 AP4S1

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

# Name GO ID Score Top Affiliating Genes
1 protein localization GO:0008104 9.26 AP4B1 AP4S1
2 endosomal transport GO:0016197 9.16 AP5Z1 VPS37A
3 protein targeting GO:0006605 8.96 AP4B1 AP4S1
4 protein transport GO:0015031 8.92 AP4B1 AP4S1 AP5Z1 VPS37A

Sources for Hereditary Spastic Paraplegia 51

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....