MCID: SPS122
MIFTS: 37

Spastic Paraplegia 52, Autosomal Recessive

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

Aliases & Classifications for Spastic Paraplegia 52, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 52, Autosomal Recessive:

Name: Spastic Paraplegia 52, Autosomal Recessive 57 75 29 13 6 73
Spg52 57 12 75
Hereditary Spastic Paraplegia 52 12 15
Cpsq6 12 75
Cerebral Palsy, Spastic Quadriplegic, 6, Formerly; Cpsq6, Formerly 57
Cerebral Palsy, Spastic Quadriplegic, 6, Formerly 57
Palsy, Cerebral, Spastic Quadriplegic, Type 6 40
Autosomal Recessive Spastic Paraplegia 52 12
Cerebral Palsy, Spastic Quadriplegic 6 75
Spastic Quadriplegic Cerebral Palsy 6 12
Cpsq6, Formerly 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
two unrelated families have been reported (last curated may 2016)


HPO:

32
spastic paraplegia 52, autosomal recessive:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spastic Paraplegia 52, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Spastic paraplegia 52, autosomal recessive: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG52 is characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe mental retardation with poor or absent speech development. Some patients may have seizures.

MalaCards based summary : Spastic Paraplegia 52, Autosomal Recessive, also known as spg52, is related to spastic paraplegia 56, autosomal recessive and spastic paraplegia 33, autosomal dominant, and has symptoms including muscle spasticity An important gene associated with Spastic Paraplegia 52, Autosomal Recessive is AP4S1 (Adaptor Related Protein Complex 4 Subunit Sigma 1), and among its related pathways/superpathways is Lysosome. Related phenotypes are wide mouth and high palate

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the AP4S1 gene on chromosome 14q12.

OMIM : 57 Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011). Some patients may have seizures (Hardies et al., 2015). (614067)

Related Diseases for Spastic Paraplegia 52, Autosomal Recessive

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 Spastic Paraplegia 52, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 56, autosomal recessive 10.1 AP4S1 RTN2
2 spastic paraplegia 33, autosomal dominant 10.0 AP5Z1 RTN2
3 severe intellectual disability and progressive spastic paraplegia 10.0 AP4B1 AP4S1
4 spastic paraplegia 31, autosomal dominant 10.0 AP5Z1 RTN2
5 spastic paraplegia 2, x-linked 9.9 AP5Z1 RTN2
6 spastic paraplegia 12, autosomal dominant 9.9 AP5Z1 RTN2
7 spastic paraplegia 47, autosomal recessive 9.8 AP4B1 AP5Z1
8 spastic paraplegia 10, autosomal dominant 9.8 AP5Z1 RTN2
9 paraplegia 9.4 AP5Z1 DDHD1 RTN2
10 cerebral palsy 9.4 AP4B1 AP4S1
11 spastic paraparesis 9.2 DDHD1 VPS37A
12 spastic paraplegia 54, autosomal recessive 9.0 AP4S1 AP5Z1 DDHD1 RTN2
13 spastic paraplegia 50, autosomal recessive 8.9 AP4B1 AP4S1 AP5Z1 RTN2
14 hereditary spastic paraplegia 8.7 AP4B1 AP5Z1 DDHD1 RTN2
15 spastic paraplegia 28, autosomal recessive 8.3 AP4B1 AP4S1 AP5Z1 DDHD1 RTN2
16 hereditary spastic paraplegia 51 7.9 AP4B1 AP4S1 AP5Z1 RTN2 VPS37A

Graphical network of the top 20 diseases related to Spastic Paraplegia 52, Autosomal Recessive:



Diseases related to Spastic Paraplegia 52, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 52, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism

Head And Neck Face:
coarse facial features
short philtrum
facial hypotonia

Growth Height:
short stature

Head And Neck Mouth:
wide mouth
high-arched palate
full lips

Skeletal Feet:
talipes equinovarus

Neurologic Behavioral Psychiatric Manifestations:
stereotypic laughter
shy character
amicable character

Neurologic Central Nervous System:
spasticity
hyperreflexia
loss of ability to walk
extensor plantar responses
mental retardation, severe
more
Head And Neck Head:
microcephaly

Muscle Soft Tissue:
hypertonia
axial hypotonia
decreased shank muscle mass

Head And Neck Nose:
bulbous nose
prominent nose
broad nasal bridge

Skeletal:
joint contractures


Clinical features from OMIM:

614067

Human phenotypes related to Spastic Paraplegia 52, Autosomal Recessive:

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 wide mouth 32 HP:0000154
2 high palate 32 HP:0000218
3 microcephaly 32 HP:0000252
4 coarse facial features 32 HP:0000280
5 facial hypotonia 32 HP:0000297
6 hypertelorism 32 HP:0000316
7 short philtrum 32 HP:0000322
8 bulbous nose 32 HP:0000414
9 wide nasal bridge 32 HP:0000431
10 prominent nose 32 HP:0000448
11 spasticity 32 HP:0001257
12 spastic paraplegia 32 HP:0001258
13 global developmental delay 32 HP:0001263
14 hyperreflexia 32 HP:0001347
15 flexion contracture 32 HP:0001371
16 talipes equinovarus 32 HP:0001762
17 febrile seizures 32 occasional (7.5%) HP:0002373
18 babinski sign 32 HP:0003487
19 short stature 32 HP:0004322
20 loss of ability to walk 32 HP:0006957
21 focal seizures 32 occasional (7.5%) HP:0007359
22 muscular hypotonia of the trunk 32 HP:0008936
23 intellectual disability, severe 32 HP:0010864
24 thick vermilion border 32 HP:0012471
25 cerebral palsy 32 HP:0100021

UMLS symptoms related to Spastic Paraplegia 52, Autosomal Recessive:


muscle spasticity

Drugs & Therapeutics for Spastic Paraplegia 52, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 52, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 52, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 52, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 52, Autosomal Recessive 29 AP4S1

Anatomical Context for Spastic Paraplegia 52, Autosomal Recessive

Publications for Spastic Paraplegia 52, Autosomal Recessive

Variations for Spastic Paraplegia 52, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 52, Autosomal Recessive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AP4S1 NM_001254729.1(AP4S1): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic rs387906970 GRCh37 Chromosome 14, 31535526: 31535526
2 AP4S1 NM_001254729.1(AP4S1): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic rs387906970 GRCh38 Chromosome 14, 31066320: 31066320
3 AP4S1 NM_007077.4(AP4S1): c.289C> T (p.Arg97Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs200440467 GRCh38 Chromosome 14, 31072968: 31072968
4 AP4S1 NM_007077.4(AP4S1): c.289C> T (p.Arg97Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs200440467 GRCh37 Chromosome 14, 31542174: 31542174
5 AP4S1 NM_001254729.1(AP4S1): c.138+3_138+6delAAGT deletion Pathogenic rs876661295 GRCh37 Chromosome 14, 31535543: 31535546
6 AP4S1 NM_001254729.1(AP4S1): c.138+3_138+6delAAGT deletion Pathogenic rs876661295 GRCh38 Chromosome 14, 31066337: 31066340
7 AP4S1 NM_007077.4(AP4S1): c.138+2T> G single nucleotide variant Likely pathogenic rs377679827 GRCh37 Chromosome 14, 31535542: 31535542
8 AP4S1 NM_007077.4(AP4S1): c.138+2T> G single nucleotide variant Likely pathogenic rs377679827 GRCh38 Chromosome 14, 31066336: 31066336

Expression for Spastic Paraplegia 52, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 52, Autosomal Recessive.

Pathways for Spastic Paraplegia 52, Autosomal Recessive

Pathways related to Spastic Paraplegia 52, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.71 AP4B1 AP4S1

GO Terms for Spastic Paraplegia 52, Autosomal Recessive

Cellular components related to Spastic Paraplegia 52, Autosomal Recessive 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 Spastic Paraplegia 52, Autosomal Recessive 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 Spastic Paraplegia 52, Autosomal Recessive

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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