MCID: AP4001
MIFTS: 21

Ap-4-Associated Hereditary Spastic Paraplegia

Categories: Rare diseases

Aliases & Classifications for Ap-4-Associated Hereditary Spastic Paraplegia

MalaCards integrated aliases for Ap-4-Associated Hereditary Spastic Paraplegia:

Name: Ap-4-Associated Hereditary Spastic Paraplegia 24 52
Adaptor Protein Complex 4 Deficiency 24 52
Ap-4 Deficiency Syndrome 24 52
Ap-4-Associated Hsp 24 52
Ap-4 Deficiency 24 52
Severe Intellectual Disability and Progressive Spastic Paraplegia 52
Ap4 Deficiency Syndrome 52

Classifications:



Summaries for Ap-4-Associated Hereditary Spastic Paraplegia

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280763 Definition 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. Visit the Orphanet disease page for more resources.

MalaCards based summary : Ap-4-Associated Hereditary Spastic Paraplegia, also known as adaptor protein complex 4 deficiency, is related to hereditary spastic paraplegia and paraplegia. An important gene associated with Ap-4-Associated Hereditary Spastic Paraplegia is AP4B1 (Adaptor Related Protein Complex 4 Subunit Beta 1), and among its related pathways/superpathways are Vesicle-mediated transport and Clathrin derived vesicle budding. Affiliated tissues include brain.

GeneReviews: NBK535153

Related Diseases for Ap-4-Associated Hereditary Spastic Paraplegia

Graphical network of the top 20 diseases related to Ap-4-Associated Hereditary Spastic Paraplegia:



Diseases related to Ap-4-Associated Hereditary Spastic Paraplegia

Symptoms & Phenotypes for Ap-4-Associated Hereditary Spastic Paraplegia

Drugs & Therapeutics for Ap-4-Associated Hereditary Spastic Paraplegia

Search Clinical Trials , NIH Clinical Center for Ap-4-Associated Hereditary Spastic Paraplegia

Genetic Tests for Ap-4-Associated Hereditary Spastic Paraplegia

Anatomical Context for Ap-4-Associated Hereditary Spastic Paraplegia

MalaCards organs/tissues related to Ap-4-Associated Hereditary Spastic Paraplegia:

40
Brain

Publications for Ap-4-Associated Hereditary Spastic Paraplegia

Articles related to Ap-4-Associated Hereditary Spastic Paraplegia:

(show all 19)
# Title Authors PMID Year
1
AP-4 vesicles contribute to spatial control of autophagy via RUSC-dependent peripheral delivery of ATG9A. 24
30262884 2018
2
Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome. 24
29698489 2018
3
Clinical and genetic characterization of AP4B1-associated SPG47. 24
29193663 2018
4
AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation? 24
29473051 2018
5
AP-4 mediates export of ATG9A from the trans-Golgi network to promote autophagosome formation. 24
29180427 2017
6
A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation. 24
28150420 2017
7
Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force. 24
27079681 2016
8
Molecular Basis for the Interaction Between AP4 β4 and its Accessory Protein, Tepsin. 24
26756312 2016
9
Bivalent Motif-Ear Interactions Mediate the Association of the Accessory Protein Tepsin with the AP-4 Adaptor Complex. 24
26542808 2015
10
Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering. 24
26544806 2015
11
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. 24
25552650 2015
12
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 24
23897027 2013
13
Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia. 24
23167973 2013
14
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. 24
21620353 2011
15
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. 24
20972249 2011
16
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. 24
19559397 2009
17
Characterization of a fourth adaptor-related protein complex. 24
10436028 1999
18
AP-4, a novel protein complex related to clathrin adaptors. 24
10066790 1999
19
AP-4-Associated Hereditary Spastic Paraplegia 61
30543385 2018

Variations for Ap-4-Associated Hereditary Spastic Paraplegia

Expression for Ap-4-Associated Hereditary Spastic Paraplegia

Search GEO for disease gene expression data for Ap-4-Associated Hereditary Spastic Paraplegia.

Pathways for Ap-4-Associated Hereditary Spastic Paraplegia

Pathways related to Ap-4-Associated Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

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

GO Terms for Ap-4-Associated Hereditary Spastic Paraplegia

Cellular components related to Ap-4-Associated Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.62 AP4S1 AP4M1 AP4E1 AP4B1
2 trans-Golgi network membrane GO:0032588 9.46 AP4S1 AP4M1 AP4E1 AP4B1
3 trans-Golgi network GO:0005802 9.4 AP4M1 AP4B1
4 membrane coat GO:0030117 9.37 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 Ap-4-Associated Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.62 AP4S1 AP4M1 AP4E1 AP4B1
2 intracellular protein transport GO:0006886 9.56 AP4S1 AP4M1 AP4E1 AP4B1
3 vesicle-mediated transport GO:0016192 9.46 AP4S1 AP4M1 AP4E1 AP4B1
4 protein localization GO:0008104 9.26 AP4S1 AP4M1 AP4E1 AP4B1
5 protein targeting GO:0006605 8.92 AP4S1 AP4M1 AP4E1 AP4B1

Sources for Ap-4-Associated Hereditary Spastic Paraplegia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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