SPG51
MCID: SPS152
MIFTS: 26

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, 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 74 29 13 6 72
Spg51 57 74
Cerebral Palsy, Spastic Quadriplegic, 4, Formerly; Cpsq4, Formerly 57
Cerebral Palsy, Spastic Quadriplegic, 4, Formerly 57
Cerebral Palsy, Spastic Quadriplegic 4 74
Cpsq4, Formerly 57
Cpsq4 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
spastic paraplegia 51, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

MedGen 42 C3151056
UMLS 72 C3151056

Summaries for Spastic Paraplegia 51, Autosomal Recessive

UniProtKB/Swiss-Prot : 74 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). Related phenotypes are nystagmus and seizures

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)

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 23 Hereditary Spastic Paraplegia 51
Hereditary Spastic Paraplegia 72 Hereditary Spastic Paraplegia
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 11.8
2 hereditary spastic paraplegia 51 11.6

Symptoms & Phenotypes for Spastic Paraplegia 51, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 51, Autosomal Recessive:

32 (show all 30)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 seizures 32 HP:0001250
3 hyperreflexia 32 HP:0001347
4 coarse facial features 32 HP:0000280
5 global developmental delay 32 HP:0001263
6 wide nasal bridge 32 HP:0000431
7 microcephaly 32 HP:0000252
8 neonatal hypotonia 32 HP:0001319
9 short stature 32 HP:0004322
10 flexion contracture 32 HP:0001371
11 decreased muscle mass 32 HP:0003199
12 spastic tetraplegia 32 HP:0002510
13 intellectual disability, severe 32 HP:0010864
14 short philtrum 32 HP:0000322
15 narrow forehead 32 HP:0000341
16 babinski sign 32 HP:0003487
17 ventriculomegaly 32 HP:0002119
18 cerebral cortical atrophy 32 HP:0002120
19 talipes equinovarus 32 HP:0001762
20 wide mouth 32 HP:0000154
21 narrow face 32 HP:0000275
22 downslanted palpebral fissures 32 HP:0000494
23 bulbous nose 32 HP:0000414
24 pointed chin 32 HP:0000307
25 spastic paraplegia 32 HP:0001258
26 long nose 32 HP:0003189
27 cerebellar atrophy 32 HP:0001272
28 drooling 32 HP:0002307
29 facial hypotonia 32 HP:0000297
30 prominent antihelix 32 HP:0000395

Symptoms via clinical synopsis from OMIM:

57
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

Head And Neck Ears:
prominent antihelix

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

Skeletal:
joint contractures

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 29 AP4E1

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. 8 71
21937992 2011
2
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. 8 71
21620353 2011
3
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. 8 71
20972249 2011
4
AP-4-Associated Hereditary Spastic Paraplegia 71
30543385 2018
5
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. 71
15037681 2004
6
Hereditary Spastic Paraplegia Overview 71
20301682 2000
7
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 38
23897027 2013

Variations for Spastic Paraplegia 51, Autosomal Recessive

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 AP4E1 NC_000015.10: g.50755991_50948682del deletion Pathogenic 15:51048188-51240879 15:50755991-50948682
2 AP4E1 AP4E1, 4-BP DEL, IVS5DS, 542+1GTAA deletion Pathogenic
3 AP4E1 AP4E1, VAL454FS insertion Pathogenic
4 AP4E1 NM_007347.5(AP4E1): c.1317-2A> C single nucleotide variant Likely pathogenic 15:51242021-51242021 15:50949824-50949824
5 AP4E1 NM_007347.5(AP4E1): c.613C> A (p.His205Asn) single nucleotide variant Uncertain significance rs148499164 15:51221276-51221276 15:50929079-50929079
6 AP4E1 NM_007347.5(AP4E1): c.2149C> T (p.Pro717Ser) single nucleotide variant Uncertain significance rs150743968 15:51285625-51285625 15:50993428-50993428
7 AP4E1 NM_007347.5(AP4E1): c.222+18G> A single nucleotide variant Benign rs1147129 15:51204364-51204364 15:50912167-50912167
8 AP4E1 NM_007347.5(AP4E1): c.3387G> A (p.Gln1129=) single nucleotide variant Benign rs3825798 15:51294832-51294832 15:51002635-51002635
9 AP4E1 NM_007347.5(AP4E1): c.487T> C (p.Cys163Arg) single nucleotide variant Benign rs2306331 15:51217361-51217361 15:50925164-50925164

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
28 GO
29 GTR
30 HGMD
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33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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