SPPRS
MCID: SPS207
MIFTS: 26

Spastic Paraplegia and Psychomotor Retardation with or Without Seizures (SPPRS)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spastic Paraplegia and Psychomotor Retardation with or Without...

MalaCards integrated aliases for Spastic Paraplegia and Psychomotor Retardation with or Without Seizures:

Name: Spastic Paraplegia and Psychomotor Retardation with or Without Seizures 57 72 29 6
Spastic Paraplegia-Psychomotor Retardation-Seizures Syndrome 58 36
Spprs 57 72
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome 58
Spprs Syndrome 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or in the first months of life


HPO:

31
spastic paraplegia and psychomotor retardation with or without seizures:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Spastic Paraplegia and Psychomotor Retardation with or Without...

UniProtKB/Swiss-Prot : 72 Spastic paraplegia and psychomotor retardation with or without seizures: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPPRS is an autosomal recessive neurodevelopmental disorder manifesting in infancy. Affected individuals show hypotonia and psychomotor retardation. Most develop seizures.

MalaCards based summary : Spastic Paraplegia and Psychomotor Retardation with or Without Seizures, is also known as spastic paraplegia-psychomotor retardation-seizures syndrome. An important gene associated with Spastic Paraplegia and Psychomotor Retardation with or Without Seizures is HACE1 (HECT Domain And Ankyrin Repeat Containing E3 Ubiquitin Protein Ligase 1). Affiliated tissues include eye, and related phenotypes are global developmental delay and progressive spastic paraplegia

OMIM® : 57 Spastic paraplegia and psychomotor retardation with or without seizures is an autosomal recessive complex neurodevelopmental disorder with onset in infancy. Affected children show hypotonia followed by severely impaired global development and significant motor disability. Most develop seizures in childhood and have speech delay. Other features, such as ocular abnormalities, foot deformities, hypoplasia of the corpus callosum, and decreased white matter, are more variable (summary by Hollstein et al., 2015). (616756) (Updated 20-May-2021)

KEGG : 36 Spastic paraplegia-psychomotor retardation-seizures syndrome (SPPRS) is an autosomal recessive neurodevelopmental syndrome caused by loss-of-function mutations in HACE1. HACE1 is an E3 ubiquitin ligase that regulates the activity of GTPases, including Rac1 and members of the Rab family.

Related Diseases for Spastic Paraplegia and Psychomotor Retardation with or Without...

Symptoms & Phenotypes for Spastic Paraplegia and Psychomotor Retardation with or Without...

Human phenotypes related to Spastic Paraplegia and Psychomotor Retardation with or Without Seizures:

58 31 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 progressive spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007020
3 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
4 scoliosis 58 31 occasional (7.5%) Frequent (79-30%) HP:0002650
5 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
6 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
7 kyphosis 58 31 occasional (7.5%) Frequent (79-30%) HP:0002808
8 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
9 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
10 sensorineural hearing impairment 58 31 very rare (1%) Frequent (79-30%) HP:0000407
11 myopia 58 31 occasional (7.5%) Frequent (79-30%) HP:0000545
12 waddling gait 58 31 very rare (1%) Frequent (79-30%) HP:0002515
13 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
14 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
15 hip dislocation 58 31 occasional (7.5%) Frequent (79-30%) HP:0002827
16 dystonia 58 31 occasional (7.5%) Frequent (79-30%) HP:0001332
17 retinal dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000556
18 unsteady gait 58 31 frequent (33%) Frequent (79-30%) HP:0002317
19 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
20 muscular hypotonia of the trunk 58 31 frequent (33%) Frequent (79-30%) HP:0008936
21 exophoria 58 31 frequent (33%) Frequent (79-30%) HP:0025313
22 absent pubertal growth spurt 58 31 frequent (33%) Frequent (79-30%) HP:0031087
23 generalized myoclonic seizure 31 occasional (7.5%) HP:0002123
24 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
25 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
26 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
27 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
28 cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002059
29 urinary incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000020
30 cerebral white matter atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012762
31 structural foot deformity 58 31 occasional (7.5%) Occasional (29-5%) HP:0010219
32 puberty and gonadal disorders 58 31 occasional (7.5%) Occasional (29-5%) HP:0008373
33 delayed peripheral myelination 58 31 occasional (7.5%) Occasional (29-5%) HP:0011401
34 inability to walk 31 occasional (7.5%) HP:0002540
35 delayed myelination 31 occasional (7.5%) HP:0012448
36 bilateral tonic-clonic seizure 31 occasional (7.5%) HP:0002069
37 focal myoclonic seizure 31 occasional (7.5%) HP:0011166
38 lower limb spasticity 58 31 very rare (1%) Frequent (79-30%) HP:0002061
39 talipes equinovarus 31 very rare (1%) HP:0001762
40 seizure 31 very rare (1%) HP:0001250
41 seizures 58 Very frequent (99-80%)
42 spasticity 58 Frequent (79-30%)
43 developmental regression 31 HP:0002376
44 strabismus 31 HP:0000486
45 generalized myoclonic seizures 58 Frequent (79-30%)
46 fasciculations 58 Excluded (0%)
47 broad-based gait 31 HP:0002136
48 generalized tonic-clonic seizures 58 Occasional (29-5%)
49 generalized hypotonia 31 HP:0001290
50 lumbar hyperlordosis 31 HP:0002938

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability
spasticity
ataxia
seizures (in some patients)
hypoplastic corpus callosum (in some patients)
more
Muscle Soft Tissue:
hypotonia

Growth Height:
short stature (in some patients)

Skeletal Feet:
foot deformities (in some patients)

Genitourinary External Genitalia Male:
hypoplastic genitalia (in some patients)

Skeletal Pelvis:
hip dislocation (in some patients)

Head And Neck Eyes:
strabismus
myopia (in some patients)
retinal dystrophy (in some patients)

Skeletal Spine:
scoliosis (in some patients)
kyphosis (in some patients)

Head And Neck Head:
microcephaly (in some patients)
large head circumference at birth (in some patients)

Head And Neck Ears:
sensorineural hearing loss (in some patients)

Growth Weight:
obesity (in some patients)
increased weight (in some patients)

Clinical features from OMIM®:

616756 (Updated 20-May-2021)

Drugs & Therapeutics for Spastic Paraplegia and Psychomotor Retardation with or Without...

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia and Psychomotor Retardation with or Without Seizures

Genetic Tests for Spastic Paraplegia and Psychomotor Retardation with or Without...

Genetic tests related to Spastic Paraplegia and Psychomotor Retardation with or Without Seizures:

# Genetic test Affiliating Genes
1 Spastic Paraplegia and Psychomotor Retardation with or Without Seizures 29 HACE1

Anatomical Context for Spastic Paraplegia and Psychomotor Retardation with or Without...

MalaCards organs/tissues related to Spastic Paraplegia and Psychomotor Retardation with or Without Seizures:

40
Eye

Publications for Spastic Paraplegia and Psychomotor Retardation with or Without...

Articles related to Spastic Paraplegia and Psychomotor Retardation with or Without Seizures:

# Title Authors PMID Year
1
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. 57 6
26424145 2015
2
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. 57 6
26437029 2015
3
Interactive Effects of Copper Pipe, Stagnation, Corrosion Control, and Disinfectant Residual Influenced Reduction of Legionella pneumophila during Simulations of the Flint Water Crisis. 61
32899686 2020
4
HACE1, RAC1, and what else in the pathogenesis of SPPRS? 61
31321299 2019
5
HACE1 deficiency leads to structural and functional neurodevelopmental defects. 61
31321300 2019

Variations for Spastic Paraplegia and Psychomotor Retardation with or Without...

ClinVar genetic disease variations for Spastic Paraplegia and Psychomotor Retardation with or Without Seizures:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HACE1 NM_020771.4(HACE1):c.454C>T (p.Gln152Ter) SNV Pathogenic 221294 rs869025284 GRCh37: 6:105280997-105280997
GRCh38: 6:104833122-104833122
2 HACE1 NM_020771.4(HACE1):c.655C>T (p.Arg219Ter) SNV Pathogenic 221289 rs869025280 GRCh37: 6:105244863-105244863
GRCh38: 6:104796988-104796988
3 HACE1 NM_020771.4(HACE1):c.1852_1853del (p.Gln618fs) Deletion Pathogenic 221293 rs751809418 GRCh37: 6:105224627-105224628
GRCh38: 6:104776752-104776753
4 HACE1 NM_020771.4(HACE1):c.240C>A (p.Cys80Ter) SNV Pathogenic 221296 rs761086584 GRCh37: 6:105297103-105297103
GRCh38: 6:104849228-104849228
5 HACE1 NM_020771.4(HACE1):c.1396C>T (p.Gln466Ter) SNV Pathogenic 548455 rs1337798545 GRCh37: 6:105232873-105232873
GRCh38: 6:104784998-104784998
6 HACE1 NM_020771.4(HACE1):c.1712C>A (p.Ser571Ter) SNV Pathogenic 802254 rs1582418143 GRCh37: 6:105224952-105224952
GRCh38: 6:104777077-104777077
7 HACE1 NM_020771.4(HACE1):c.2487_2489TCT[1] (p.Leu832del) Microsatellite Pathogenic 221292 rs869025283 GRCh37: 6:105192056-105192058
GRCh38: 6:104744181-104744183
8 HACE1 NM_020771.3(HACE1):c.2019_2020insTTTAGGTATTTTTAGGTATT (p.Pro674Phefs) Microsatellite Pathogenic 221291 GRCh37: 6:105219259-105219260
GRCh38: 6:104771384-104771385
9 HACE1 NM_020771.4(HACE1):c.805C>T (p.Arg269Ter) SNV Pathogenic 221295 rs750371878 GRCh37: 6:105244541-105244541
GRCh38: 6:104796666-104796666
10 HACE1 NM_020771.4(HACE1):c.2242C>T (p.Arg748Ter) SNV Pathogenic 221290 rs869025281 GRCh37: 6:105198317-105198317
GRCh38: 6:104750442-104750442
11 HACE1 NM_020771.4(HACE1):c.1351C>T (p.Arg451Trp) SNV Uncertain significance 1028189 GRCh37: 6:105232918-105232918
GRCh38: 6:104785043-104785043
12 HACE1 NM_020771.4(HACE1):c.402+5G>A SNV Uncertain significance 984703 GRCh37: 6:105291093-105291093
GRCh38: 6:104843218-104843218

Expression for Spastic Paraplegia and Psychomotor Retardation with or Without...

Search GEO for disease gene expression data for Spastic Paraplegia and Psychomotor Retardation with or Without Seizures.

Pathways for Spastic Paraplegia and Psychomotor Retardation with or Without...

GO Terms for Spastic Paraplegia and Psychomotor Retardation with or Without...

Sources for Spastic Paraplegia and Psychomotor Retardation with or Without...

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
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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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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