SPG51
MCID: SPS152
MIFTS: 32

Spastic Paraplegia 51, Autosomal Recessive (SPG51)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare 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 58 76 30 13 6 74
Spg51 58 76
Cerebral Palsy, Spastic Quadriplegic, 4, Formerly; Cpsq4, Formerly 58
Cerebral Palsy, Spastic Quadriplegic, 4, Formerly 58
Palsy, Cerebral, Spastic Quadriplegic, Type 4 41
Cerebral Palsy, Spastic Quadriplegic 4 76
Cpsq4, Formerly 58
Cpsq4 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
spastic paraplegia 51, autosomal recessive:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spastic Paraplegia 51, Autosomal Recessive

UniProtKB/Swiss-Prot : 76 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 spastic paraplegia 51 and hereditary spastic paraplegia 51, 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). Affiliated tissues include skin, bone and eye, and related phenotypes are nystagmus and seizures

OMIM : 58 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)

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 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 Spastic Paraplegia 80, Autosomal Dominant
Hereditary Spastic Paraplegia Hereditary Spastic Paraplegia 23
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 47
Spastic Paraplegia 51 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 spastic paraplegia 51 11.7
2 hereditary spastic paraplegia 51 11.5

Symptoms & Phenotypes for Spastic Paraplegia 51, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 51, Autosomal Recessive:

33 (show all 30)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 seizures 33 HP:0001250
3 hyperreflexia 33 HP:0001347
4 coarse facial features 33 HP:0000280
5 global developmental delay 33 HP:0001263
6 wide nasal bridge 33 HP:0000431
7 microcephaly 33 HP:0000252
8 neonatal hypotonia 33 HP:0001319
9 short stature 33 HP:0004322
10 flexion contracture 33 HP:0001371
11 decreased muscle mass 33 HP:0003199
12 spastic tetraplegia 33 HP:0002510
13 intellectual disability, severe 33 HP:0010864
14 babinski sign 33 HP:0003487
15 ventriculomegaly 33 HP:0002119
16 cerebral cortical atrophy 33 HP:0002120
17 talipes equinovarus 33 HP:0001762
18 wide mouth 33 HP:0000154
19 short philtrum 33 HP:0000322
20 narrow face 33 HP:0000275
21 downslanted palpebral fissures 33 HP:0000494
22 bulbous nose 33 HP:0000414
23 pointed chin 33 HP:0000307
24 spastic paraplegia 33 HP:0001258
25 long nose 33 HP:0003189
26 cerebellar atrophy 33 HP:0001272
27 drooling 33 HP:0002307
28 narrow forehead 33 HP:0000341
29 facial hypotonia 33 HP:0000297
30 prominent antihelix 33 HP:0000395

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
downslanting palpebral fissures

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

Skeletal:
joint contractures

Neurologic Behavioral Psychiatric Manifestations:
shy behavior
stereotypic laughter
amicable behavior

Neurologic Central Nervous System:
seizures
hyperreflexia
cerebellar atrophy
enlarged ventricles
extensor plantar responses
more
Head And Neck Nose:
wide nasal bridge
bulbous nose
long nose

Growth Height:
short stature

Head And Neck Mouth:
wide mouth
drooling

Head And Neck Ears:
prominent antihelix

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

Clinical features from OMIM:

613744

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 30 AP4E1

Anatomical Context for Spastic Paraplegia 51, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 51, Autosomal Recessive:

42
Skin, Bone, Eye

Publications for Spastic Paraplegia 51, Autosomal Recessive

Articles related to Spastic Paraplegia 51, Autosomal Recessive:

# Title Authors Year
1
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. ( 20972249 )
2011
2
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. ( 21620353 )
2011
3
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. ( 21937992 )
2011
4
Practice parameter: diagnostic assessment of the child with cerebral palsy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. ( 15037681 )
2004

Variations for Spastic Paraplegia 51, Autosomal Recessive

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

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 AP4E1 AP4E1, 4-BP DEL, IVS5DS, 542+1GTAA deletion Pathogenic
2 AP4E1 NC_000015.10: g.50755991_50948682del deletion Pathogenic GRCh38 Chromosome 15, 50755991: 50948682
3 AP4E1 NC_000015.10: g.50755991_50948682del deletion Pathogenic GRCh37 Chromosome 15, 51048188: 51240879
4 AP4E1 AP4E1, VAL454FS insertion Pathogenic
5 AP4E1 NM_007347.4(AP4E1): c.3387G> A (p.Gln1129=) single nucleotide variant Benign rs3825798 GRCh37 Chromosome 15, 51294832: 51294832
6 AP4E1 NM_007347.4(AP4E1): c.3387G> A (p.Gln1129=) single nucleotide variant Benign rs3825798 GRCh38 Chromosome 15, 51002635: 51002635
7 AP4E1 NM_007347.4(AP4E1): c.487T> C (p.Cys163Arg) single nucleotide variant Benign rs2306331 GRCh37 Chromosome 15, 51217361: 51217361
8 AP4E1 NM_007347.4(AP4E1): c.487T> C (p.Cys163Arg) single nucleotide variant Benign rs2306331 GRCh38 Chromosome 15, 50925164: 50925164
9 AP4E1 NM_007347.4(AP4E1): c.613C> A (p.His205Asn) single nucleotide variant Uncertain significance rs148499164 GRCh37 Chromosome 15, 51221276: 51221276
10 AP4E1 NM_007347.4(AP4E1): c.613C> A (p.His205Asn) single nucleotide variant Uncertain significance rs148499164 GRCh38 Chromosome 15, 50929079: 50929079
11 AP4E1 NM_007347.4(AP4E1): c.222+18G> A single nucleotide variant Benign rs1147129 GRCh37 Chromosome 15, 51204364: 51204364
12 AP4E1 NM_007347.4(AP4E1): c.222+18G> A single nucleotide variant Benign rs1147129 GRCh38 Chromosome 15, 50912167: 50912167
13 AP4E1 NM_007347.4(AP4E1): c.2149C> T (p.Pro717Ser) single nucleotide variant Uncertain significance rs150743968 GRCh37 Chromosome 15, 51285625: 51285625
14 AP4E1 NM_007347.4(AP4E1): c.2149C> T (p.Pro717Ser) single nucleotide variant Uncertain significance rs150743968 GRCh38 Chromosome 15, 50993428: 50993428

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
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
Content
Loading form....