SPG51
MCID: SPS152
MIFTS: 29

Spastic Paraplegia 51, Autosomal Recessive (SPG51)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Spastic Paraplegia 51, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 51, Autosomal Recessive:

Name: Spastic Paraplegia 51, Autosomal Recessive 57 20 72 29 13 6 70
Spg51 57 20 72
Spastic Paraplegia 51 20 29
Cerebral Palsy, Spastic Quadriplegic, 4, Formerly; Cpsq4, Formerly 57
Severe Intellectual Disability and Progressive Spastic Paraplegia 20
Cerebral Palsy, Spastic Quadriplegic, 4, Formerly 57
Autosomal Recessive Spastic Paraplegia 51 20
Cerebral Palsy, Spastic Quadriplegic 4 72
Ap4 Deficiency Syndrome 20
Cpsq4, Formerly 57
Cpsq4 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
two families have been reported (as of june 2011)


HPO:

31
spastic paraplegia 51, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Spastic Paraplegia 51, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 Spastic paraplegia 51, autosomal recessive: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG51 is a non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest motor and posture impairments often associated with epilepsy and disturbances of cognition, behavior, sensation, and communication.

MalaCards based summary : Spastic Paraplegia 51, Autosomal Recessive, also known as spg51, is related to hereditary spastic paraplegia 51 and ap-4-associated hereditary spastic paraplegia, and has symptoms including seizures An important gene associated with Spastic Paraplegia 51, Autosomal Recessive is AP4E1 (Adaptor Related Protein Complex 4 Subunit Epsilon 1). Related phenotypes are hyperreflexia and nystagmus

OMIM® : 57 Spastic paraplegia-51 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 Moreno-De-Luca et al., 2011). (613744) (Updated 05-Apr-2021)

Related Diseases for Spastic Paraplegia 51, 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, Autosomal Recessive 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 Dominant
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 Spastic Paraplegia 80, Autosomal Dominant
Spastic Paraplegia 81, Autosomal Recessive Spastic Paraplegia 82, Autosomal Recessive
Spastic Paraplegia 83, Autosomal Recessive Hereditary Spastic Paraplegia 23
Hereditary Spastic Paraplegia 30 Hereditary Spastic Paraplegia 51
Hereditary Spastic Paraplegia 72 Hereditary Spastic Paraplegia
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 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 32
Spastic Paraplegia 39 Spastic Paraplegia 47
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Spastic Paraplegia Type 49 Autosomal Recessive Spastic Paraplegia Type 60
Autosomal Recessive Spastic Paraplegia Type 59 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
Autosomal Dominant Spastic Paraplegia Type 9b

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

# Related Disease Score Top Affiliating Genes
1 hereditary spastic paraplegia 51 11.4
2 ap-4-associated hereditary spastic paraplegia 11.3

Symptoms & Phenotypes for Spastic Paraplegia 51, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 51, Autosomal Recessive:

31 (show all 30)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 31 HP:0001347
2 nystagmus 31 HP:0000639
3 coarse facial features 31 HP:0000280
4 global developmental delay 31 HP:0001263
5 wide nasal bridge 31 HP:0000431
6 microcephaly 31 HP:0000252
7 neonatal hypotonia 31 HP:0001319
8 short stature 31 HP:0004322
9 flexion contracture 31 HP:0001371
10 spastic tetraplegia 31 HP:0002510
11 decreased muscle mass 31 HP:0003199
12 intellectual disability, severe 31 HP:0010864
13 talipes equinovarus 31 HP:0001762
14 wide mouth 31 HP:0000154
15 cerebral cortical atrophy 31 HP:0002120
16 narrow face 31 HP:0000275
17 downslanted palpebral fissures 31 HP:0000494
18 ventriculomegaly 31 HP:0002119
19 short philtrum 31 HP:0000322
20 bulbous nose 31 HP:0000414
21 pointed chin 31 HP:0000307
22 spastic paraplegia 31 HP:0001258
23 long nose 31 HP:0003189
24 babinski sign 31 HP:0003487
25 cerebellar atrophy 31 HP:0001272
26 drooling 31 HP:0002307
27 narrow forehead 31 HP:0000341
28 facial hypotonia 31 HP:0000297
29 prominent antihelix 31 HP:0000395
30 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
hyperreflexia
cerebellar atrophy
enlarged ventricles
extensor plantar responses
more
Head And Neck Face:
coarse facial features
short philtrum
facial hypotonia
bitemporal narrowing
long narrow face
more
Head And Neck Head:
microcephaly

Skeletal Feet:
talipes equinovarus

Head And Neck Ears:
prominent antihelix

Neurologic Behavioral Psychiatric Manifestations:
shy behavior
stereotypic laughter
amicable behavior

Head And Neck Eyes:
nystagmus
downslanting palpebral fissures

Head And Neck Nose:
wide nasal bridge
bulbous nose
long nose

Growth Height:
short stature

Head And Neck Mouth:
wide mouth
drooling

Skeletal:
joint contractures

Muscle Soft Tissue:
hypotonia, neonatal and later
decreased muscle mass in the thighs

Clinical features from OMIM®:

613744 (Updated 05-Apr-2021)

UMLS symptoms related to Spastic Paraplegia 51, Autosomal Recessive:


seizures

Drugs & Therapeutics for Spastic Paraplegia 51, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 51, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 51, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 51, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 51, Autosomal Recessive 29 AP4E1
2 Spastic Paraplegia 51 29

Anatomical Context for Spastic Paraplegia 51, Autosomal Recessive

Publications for Spastic Paraplegia 51, Autosomal Recessive

Articles related to Spastic Paraplegia 51, Autosomal Recessive:

# Title Authors PMID Year
1
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 57 6
21937992 2011
2
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. 57 6
21620353 2011
3
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. 57 6
20972249 2011
4
[AP4-assocated hereditary spastic paraplegias]. 61
33728854 2021
5
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. 61
32979048 2020
6
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking. 61
31915823 2020
7
Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47). 61
31525725 2019
8
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 61
23897027 2013

Variations for Spastic Paraplegia 51, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 51, Autosomal Recessive:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AP4E1 AP4E1, 4-BP DEL, IVS5DS, 542+1GTAA Deletion Pathogenic 30660 GRCh37:
GRCh38:
2 AP4E1 AP4E1, VAL454FS Insertion Pathogenic 30661 GRCh37:
GRCh38:
3 overlap with 2 genes NC_000015.10:g.50755991_50948682del Deletion Pathogenic 30659 GRCh37: 15:51048188-51240879
GRCh38: 15:50755991-50948682
4 AP4E1 NM_007347.5(AP4E1):c.1317-2A>C SNV Likely pathogenic 635026 rs1567230528 GRCh37: 15:51242021-51242021
GRCh38: 15:50949824-50949824
5 AP4E1 NM_007347.5(AP4E1):c.326A>G (p.Asn109Ser) SNV Uncertain significance 1029158 GRCh37: 15:51207748-51207748
GRCh38: 15:50915551-50915551
6 AP4E1 NM_007347.5(AP4E1):c.541A>C (p.Lys181Gln) SNV Uncertain significance 946834 GRCh37: 15:51217415-51217415
GRCh38: 15:50925218-50925218
7 AP4E1 NM_007347.5(AP4E1):c.613C>A (p.His205Asn) SNV Uncertain significance 128402 rs148499164 GRCh37: 15:51221276-51221276
GRCh38: 15:50929079-50929079
8 AP4E1 NM_007347.5(AP4E1):c.2149C>T (p.Pro717Ser) SNV Uncertain significance 458249 rs150743968 GRCh37: 15:51285625-51285625
GRCh38: 15:50993428-50993428
9 AP4E1 NM_007347.5(AP4E1):c.487T>C (p.Cys163Arg) SNV Benign 128401 rs2306331 GRCh37: 15:51217361-51217361
GRCh38: 15:50925164-50925164
10 AP4E1 NM_007347.5(AP4E1):c.3387G>A (p.Gln1129=) SNV Benign 128400 rs3825798 GRCh37: 15:51294832-51294832
GRCh38: 15:51002635-51002635
11 AP4E1 NM_007347.5(AP4E1):c.222+18G>A SNV Benign 380768 rs1147129 GRCh37: 15:51204364-51204364
GRCh38: 15:50912167-50912167

Expression for Spastic Paraplegia 51, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 51, Autosomal Recessive.

Pathways for Spastic Paraplegia 51, Autosomal Recessive

GO Terms for Spastic Paraplegia 51, Autosomal Recessive

Sources for Spastic Paraplegia 51, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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