MCID: SVR080
MIFTS: 16

Severe Intellectual Disability and Progressive Spastic Paraplegia

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Severe Intellectual Disability and Progressive Spastic...

MalaCards integrated aliases for Severe Intellectual Disability and Progressive Spastic Paraplegia:

Name: Severe Intellectual Disability and Progressive Spastic Paraplegia 59
Ap4 Deficiency Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
severe intellectual disability and progressive spastic paraplegia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA280763

Summaries for Severe Intellectual Disability and Progressive Spastic...

MalaCards based summary : Severe Intellectual Disability and Progressive Spastic Paraplegia, also known as ap4 deficiency syndrome, is related to spastic paraplegia 51 and hereditary spastic paraplegia 51. An important gene associated with Severe Intellectual Disability and Progressive Spastic Paraplegia 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 Severe Intellectual Disability and Progressive Spastic...

Diseases related to Severe Intellectual Disability and Progressive Spastic Paraplegia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 51 11.0
2 hereditary spastic paraplegia 51 9.9 AP4B1 AP4S1
3 spastic paraplegia 52, autosomal recessive 9.9 AP4B1 AP4S1
4 spastic paraplegia 28, autosomal recessive 9.8 AP4B1 AP4S1
5 horner's syndrome 9.4 AP4E1 AP4S1
6 stuttering 9.2 AP4E1 AP4M1
7 hereditary spastic paraplegia 9.2 AP4B1 AP4M1
8 spastic paraplegia 50, autosomal recessive 9.2 AP4B1 AP4M1 AP4S1
9 trehalase deficiency 8.8 AP4B1 AP4M1 AP4S1
10 cerebral palsy 8.2 AP4B1 AP4E1 AP4M1 AP4S1

Graphical network of the top 20 diseases related to Severe Intellectual Disability and Progressive Spastic Paraplegia:



Diseases related to Severe Intellectual Disability and Progressive Spastic Paraplegia

Symptoms & Phenotypes for Severe Intellectual Disability and Progressive Spastic...

Drugs & Therapeutics for Severe Intellectual Disability and Progressive Spastic...

Search Clinical Trials , NIH Clinical Center for Severe Intellectual Disability and Progressive Spastic Paraplegia

Genetic Tests for Severe Intellectual Disability and Progressive Spastic...

Anatomical Context for Severe Intellectual Disability and Progressive Spastic...

Publications for Severe Intellectual Disability and Progressive Spastic...

Variations for Severe Intellectual Disability and Progressive Spastic...

Expression for Severe Intellectual Disability and Progressive Spastic...

Search GEO for disease gene expression data for Severe Intellectual Disability and Progressive Spastic Paraplegia.

Pathways for Severe Intellectual Disability and Progressive Spastic...

Pathways related to Severe Intellectual Disability and Progressive Spastic Paraplegia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 AP4B1 AP4E1 AP4M1 AP4S1
2
Show member pathways
11.64 AP4B1 AP4E1 AP4M1 AP4S1
3 11.01 AP4B1 AP4E1 AP4M1 AP4S1

GO Terms for Severe Intellectual Disability and Progressive Spastic...

Cellular components related to Severe Intellectual Disability and Progressive Spastic Paraplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.58 AP4B1 AP4E1 AP4M1
2 trans-Golgi network membrane GO:0032588 9.46 AP4B1 AP4E1 AP4M1 AP4S1
3 trans-Golgi network GO:0005802 9.37 AP4B1 AP4M1
4 membrane coat GO:0030117 9.32 AP4B1 AP4E1
5 clathrin adaptor complex GO:0030131 9.26 AP4B1 AP4M1
6 endosome lumen GO:0031904 9.26 AP4B1 AP4E1 AP4M1 AP4S1
7 AP-4 adaptor complex GO:0030124 8.92 AP4B1 AP4E1 AP4M1 AP4S1

Biological processes related to Severe Intellectual Disability and Progressive Spastic Paraplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular protein transport GO:0006886 9.5 AP4B1 AP4E1 AP4M1
2 protein transport GO:0015031 9.46 AP4B1 AP4E1 AP4M1 AP4S1
3 vesicle-mediated transport GO:0016192 9.43 AP4B1 AP4E1 AP4M1
4 protein localization GO:0008104 9.26 AP4B1 AP4E1 AP4M1 AP4S1
5 protein targeting GO:0006605 8.92 AP4B1 AP4E1 AP4M1 AP4S1

Sources for Severe Intellectual Disability and Progressive Spastic...

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
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