MCID: AP4001
MIFTS: 30

Ap-4-Associated Hereditary Spastic Paraplegia

Categories: Neuronal diseases, 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 25 54
Severe Intellectual Disability and Progressive Spastic Paraplegia 54 60
Adaptor Protein Complex 4 Deficiency 25 54
Ap-4 Deficiency Syndrome 25 54
Ap4 Deficiency Syndrome 54 60
Ap-4-Associated Hsp 25 54
Ap-4 Deficiency 25 54

Characteristics:

Orphanet epidemiological data:

60
severe intellectual disability and progressive spastic paraplegia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Ap-4-Associated Hereditary Spastic Paraplegia

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 280763Disease definitionSevere 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 severe intellectual disability and progressive spastic paraplegia, is related to spastic paraplegia 52, autosomal recessive and cerebral palsy. An important gene associated with Ap-4-Associated Hereditary 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 phenotypes are microcephaly and intellectual disability, severe

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

Human phenotypes related to Ap-4-Associated Hereditary Spastic Paraplegia:

60 33 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
2 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
3 progressive spastic paraplegia 60 33 hallmark (90%) Very frequent (99-80%) HP:0007020
4 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347
5 coarse facial features 60 33 frequent (33%) Frequent (79-30%) HP:0000280
6 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
7 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
8 babinski sign 60 33 frequent (33%) Frequent (79-30%) HP:0003487
9 dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0001332
10 waddling gait 60 33 frequent (33%) Frequent (79-30%) HP:0002515
11 cerebral cortical atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002120
12 bulbous nose 60 33 frequent (33%) Frequent (79-30%) HP:0000414
13 difficulty walking 60 33 frequent (33%) Frequent (79-30%) HP:0002355
14 cerebellar atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0001272
15 drooling 60 33 frequent (33%) Frequent (79-30%) HP:0002307
16 spastic dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0002464
17 poor speech 60 33 frequent (33%) Frequent (79-30%) HP:0002465
18 facial hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0000297
19 high palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000218
20 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
21 pes planus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001763
22 stereotypy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000733
23 wide mouth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000154
24 short philtrum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000322
25 shyness 60 33 occasional (7.5%) Occasional (29-5%) HP:0100962
26 everted upper lip vermilion 60 33 occasional (7.5%) Occasional (29-5%) HP:0010803
27 hypoplasia of the corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0002079
28 abnormality of the periventricular white matter 60 33 occasional (7.5%) Occasional (29-5%) HP:0002518
29 narrow forehead 60 33 occasional (7.5%) Occasional (29-5%) HP:0000341
30 overweight 60 33 occasional (7.5%) Occasional (29-5%) HP:0025502
31 strabismus 60 33 very rare (1%) Very rare (<4-1%) HP:0000486
32 genu recurvatum 60 33 very rare (1%) Very rare (<4-1%) HP:0002816
33 amblyopia 60 33 very rare (1%) Very rare (<4-1%) HP:0000646
34 generalized joint laxity 60 33 very rare (1%) Very rare (<4-1%) HP:0002761
35 acetabular dysplasia 60 33 very rare (1%) Very rare (<4-1%) HP:0008807
36 muscular hypotonia 60 Very frequent (99-80%)
37 spasticity 60 Frequent (79-30%)

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

Publications for Ap-4-Associated Hereditary Spastic Paraplegia

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

# Title Authors Year
1
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. ( 21620353 )
2011

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 AP4B1 AP4E1 AP4M1 AP4S1
2
Show member pathways
11.64 AP4B1 AP4E1 AP4M1 AP4S1
3 11.01 AP4B1 AP4E1 AP4M1 AP4S1

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 AP4B1 AP4E1 AP4M1 AP4S1
2 trans-Golgi network membrane GO:0032588 9.46 AP4B1 AP4E1 AP4M1 AP4S1
3 trans-Golgi network GO:0005802 9.4 AP4B1 AP4M1
4 membrane coat GO:0030117 9.37 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 Ap-4-Associated Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.56 AP4B1 AP4E1 AP4M1 AP4S1
2 vesicle-mediated transport GO:0016192 9.5 AP4B1 AP4E1 AP4M1
3 intracellular protein transport GO:0006886 9.46 AP4B1 AP4E1 AP4M1 AP4S1
4 protein localization GO:0008104 9.26 AP4B1 AP4E1 AP4M1 AP4S1
5 protein targeting GO:0006605 8.92 AP4B1 AP4E1 AP4M1 AP4S1

Sources for Ap-4-Associated Hereditary Spastic Paraplegia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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