SPPRS
MCID: SPS207
MIFTS: 22

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 75 29 6
Spprs 57 75
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome 59
Spastic Paraplegia-Psychomotor Retardation-Seizures Syndrome 59
Spprs Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
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 : 75 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 spprs. 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 obesity and intellectual disability

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)

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

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001513
2 intellectual disability 59 32 Frequent (79-30%) HP:0001249
3 seizures 59 32 very rare (1%) Very frequent (99-80%) HP:0001250
4 ataxia 59 32 Frequent (79-30%) HP:0001251
5 scoliosis 59 32 occasional (7.5%) Frequent (79-30%) HP:0002650
6 kyphosis 59 32 occasional (7.5%) Frequent (79-30%) HP:0002808
7 global developmental delay 59 32 Very frequent (99-80%) HP:0001263
8 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
9 sensorineural hearing impairment 59 32 very rare (1%) Frequent (79-30%) HP:0000407
10 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
11 generalized myoclonic seizures 59 32 occasional (7.5%) Frequent (79-30%) HP:0002123
12 myopia 59 32 occasional (7.5%) Frequent (79-30%) HP:0000545
13 dystonia 59 32 occasional (7.5%) Frequent (79-30%) HP:0001332
14 waddling gait 59 32 very rare (1%) Frequent (79-30%) HP:0002515
15 hip dislocation 59 32 occasional (7.5%) Frequent (79-30%) HP:0002827
16 lower limb spasticity 59 32 very rare (1%) Frequent (79-30%) HP:0002061
17 hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002079
18 cerebral atrophy 59 32 Occasional (29-5%) HP:0002059
19 retinal dystrophy 59 32 Frequent (79-30%) HP:0000556
20 hypertelorism 59 Frequent (79-30%)
21 muscular hypotonia 32 HP:0001252
22 spasticity 59 Frequent (79-30%)
23 dysarthria 59 Frequent (79-30%)
24 developmental regression 32 HP:0002376
25 delayed speech and language development 59 Frequent (79-30%)
26 strabismus 32 HP:0000486
27 inability to walk 32 occasional (7.5%) HP:0002540
28 generalized tonic-clonic seizures 59 Occasional (29-5%)
29 talipes equinovarus 32 very rare (1%) HP:0001762
30 deeply set eye 59 Frequent (79-30%)
31 downturned corners of mouth 59 Frequent (79-30%)
32 fasciculations 59 Excluded (0%)
33 difficulty walking 59 Frequent (79-30%)
34 generalized hypotonia 32 HP:0001290
35 progressive spastic paraplegia 59 Very frequent (99-80%)
36 urinary incontinence 59 Occasional (29-5%)
37 lumbar hyperlordosis 32 HP:0002938
38 unsteady gait 59 Frequent (79-30%)
39 structural foot deformity 59 Occasional (29-5%)
40 broad-based gait 32 HP:0002136
41 muscular hypotonia of the trunk 59 Frequent (79-30%)
42 abnormality of the musculature of the lower limbs 59 Excluded (0%)
43 focal myoclonic seizures 59 Occasional (29-5%)
44 cerebral white matter atrophy 59 Occasional (29-5%)
45 exophoria 59 Frequent (79-30%)
46 absent pubertal growth spurt 59 Frequent (79-30%)
47 puberty and gonadal disorders 59 Occasional (29-5%)
48 delayed peripheral myelination 59 Occasional (29-5%)
49 delayed myelination 32 occasional (7.5%) HP:0012448

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:

41
Eye

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

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 GRCh37 Chromosome 6, 105232873: 105232873
18 HACE1 NM_020771.3(HACE1): c.1396C> T (p.Gln466Ter) single nucleotide variant Pathogenic 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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