SPPRS
MCID: SPS207
MIFTS: 24

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 58 76 30 6
Spastic Paraplegia-Psychomotor Retardation-Seizures Syndrome 60 38
Spprs 58 76
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome 60
Spprs Syndrome 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
spastic paraplegia and psychomotor retardation with or without seizures:
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 76 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 : 58 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)

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:

60 33 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
2 progressive spastic paraplegia 60 33 hallmark (90%) Very frequent (99-80%) HP:0007020
3 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
4 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
5 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
6 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
7 scoliosis 60 33 occasional (7.5%) Frequent (79-30%) HP:0002650
8 kyphosis 60 33 occasional (7.5%) Frequent (79-30%) HP:0002808
9 delayed speech and language development 60 33 frequent (33%) Frequent (79-30%) HP:0000750
10 sensorineural hearing impairment 60 33 very rare (1%) Frequent (79-30%) HP:0000407
11 generalized myoclonic seizures 60 33 occasional (7.5%) Frequent (79-30%) HP:0002123
12 myopia 60 33 occasional (7.5%) Frequent (79-30%) HP:0000545
13 dystonia 60 33 occasional (7.5%) Frequent (79-30%) HP:0001332
14 waddling gait 60 33 very rare (1%) Frequent (79-30%) HP:0002515
15 hip dislocation 60 33 occasional (7.5%) Frequent (79-30%) HP:0002827
16 deeply set eye 60 33 frequent (33%) Frequent (79-30%) HP:0000490
17 downturned corners of mouth 60 33 frequent (33%) Frequent (79-30%) HP:0002714
18 difficulty walking 60 33 frequent (33%) Frequent (79-30%) HP:0002355
19 retinal dystrophy 60 33 frequent (33%) Frequent (79-30%) HP:0000556
20 unsteady gait 60 33 frequent (33%) Frequent (79-30%) HP:0002317
21 muscular hypotonia of the trunk 60 33 frequent (33%) Frequent (79-30%) HP:0008936
22 exophoria 60 33 frequent (33%) Frequent (79-30%) HP:0025313
23 absent pubertal growth spurt 60 33 frequent (33%) Frequent (79-30%) HP:0031087
24 obesity 60 33 occasional (7.5%) Occasional (29-5%) HP:0001513
25 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
26 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
27 generalized tonic-clonic seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0002069
28 urinary incontinence 60 33 occasional (7.5%) Occasional (29-5%) HP:0000020
29 hypoplasia of the corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0002079
30 cerebral atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002059
31 structural foot deformity 60 33 occasional (7.5%) Occasional (29-5%) HP:0010219
32 focal myoclonic seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0011166
33 cerebral white matter atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0012762
34 puberty and gonadal disorders 60 33 occasional (7.5%) Occasional (29-5%) HP:0008373
35 delayed peripheral myelination 60 33 occasional (7.5%) Occasional (29-5%) HP:0011401
36 inability to walk 33 occasional (7.5%) HP:0002540
37 delayed myelination 33 occasional (7.5%) HP:0012448
38 seizures 60 33 very rare (1%) Very frequent (99-80%) HP:0001250
39 lower limb spasticity 60 33 very rare (1%) Frequent (79-30%) HP:0002061
40 talipes equinovarus 33 very rare (1%) HP:0001762
41 muscular hypotonia 33 HP:0001252
42 spasticity 60 Frequent (79-30%)
43 developmental regression 33 HP:0002376
44 strabismus 33 HP:0000486
45 fasciculations 60 Excluded (0%)
46 generalized hypotonia 33 HP:0001290
47 lumbar hyperlordosis 33 HP:0002938
48 broad-based gait 33 HP:0002136
49 abnormality of the musculature of the lower limbs 60 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
intellectual disability
ataxia
spasticity
seizures (in some patients)
hypoplastic corpus callosum (in some patients)
more
Muscle Soft Tissue:
hypotonia

Growth Height:
short stature (in some patients)

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

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

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

Skeletal Feet:
foot deformities (in some patients)

Clinical features from OMIM:

616756

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 30 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:

42
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 Year
1
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. ( 26424145 )
2015
2
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. ( 26437029 )
2015

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 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 HACE1 NM_020771.3(HACE1): c.655C> T (p.Arg219Ter) single nucleotide variant Pathogenic rs869025280 GRCh38 Chromosome 6, 104796988: 104796988
2 HACE1 NM_020771.3(HACE1): c.655C> T (p.Arg219Ter) single nucleotide variant Pathogenic rs869025280 GRCh37 Chromosome 6, 105244863: 105244863
3 HACE1 NM_020771.3(HACE1): c.2242C> T (p.Arg748Ter) single nucleotide variant Pathogenic rs869025281 GRCh38 Chromosome 6, 104750442: 104750442
4 HACE1 NM_020771.3(HACE1): c.2242C> T (p.Arg748Ter) single nucleotide variant Pathogenic rs869025281 GRCh37 Chromosome 6, 105198317: 105198317
5 HACE1 NM_020771.3(HACE1): c.2019_2020insTTTAGGTATTTTTAGGTATT (p.Pro674Phefs) insertion Pathogenic rs869025282 GRCh38 Chromosome 6, 104771384: 104771385
6 HACE1 NM_020771.3(HACE1): c.2019_2020insTTTAGGTATTTTTAGGTATT (p.Pro674Phefs) insertion Pathogenic rs869025282 GRCh37 Chromosome 6, 105219259: 105219260
7 HACE1 NM_020771.3(HACE1): c.2490_2492delTCT (p.Leu832del) deletion Pathogenic rs869025283 GRCh38 Chromosome 6, 104744181: 104744183
8 HACE1 NM_020771.3(HACE1): c.2490_2492delTCT (p.Leu832del) deletion Pathogenic rs869025283 GRCh37 Chromosome 6, 105192056: 105192058
9 HACE1 NM_020771.3(HACE1): c.1852_1853delCA (p.Gln618Valfs) deletion Pathogenic rs751809418 GRCh37 Chromosome 6, 105224627: 105224628
10 HACE1 NM_020771.3(HACE1): c.1852_1853delCA (p.Gln618Valfs) deletion Pathogenic rs751809418 GRCh38 Chromosome 6, 104776752: 104776753
11 HACE1 NM_020771.3(HACE1): c.454C> T (p.Gln152Ter) single nucleotide variant Pathogenic rs869025284 GRCh38 Chromosome 6, 104833122: 104833122
12 HACE1 NM_020771.3(HACE1): c.454C> T (p.Gln152Ter) single nucleotide variant Pathogenic rs869025284 GRCh37 Chromosome 6, 105280997: 105280997
13 HACE1 NM_020771.3(HACE1): c.805C> T (p.Arg269Ter) single nucleotide variant Pathogenic rs750371878 GRCh38 Chromosome 6, 104796666: 104796666
14 HACE1 NM_020771.3(HACE1): c.805C> T (p.Arg269Ter) single nucleotide variant Pathogenic rs750371878 GRCh37 Chromosome 6, 105244541: 105244541
15 HACE1 NM_020771.3(HACE1): c.240C> A (p.Cys80Ter) single nucleotide variant Pathogenic rs761086584 GRCh38 Chromosome 6, 104849228: 104849228
16 HACE1 NM_020771.3(HACE1): c.240C> A (p.Cys80Ter) single nucleotide variant Pathogenic rs761086584 GRCh37 Chromosome 6, 105297103: 105297103
17 HACE1 NM_020771.3(HACE1): c.1396C> T (p.Gln466Ter) single nucleotide variant Pathogenic rs1337798545 GRCh37 Chromosome 6, 105232873: 105232873
18 HACE1 NM_020771.3(HACE1): c.1396C> T (p.Gln466Ter) single nucleotide variant Pathogenic rs1337798545 GRCh38 Chromosome 6, 104784998: 104784998

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...

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