MCID: SPS207
MIFTS: 20

Spastic Paraplegia and Psychomotor Retardation with or Without Seizures

Categories: Genetic diseases, Neuronal diseases, Fetal 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). Related phenotypes are microcephaly and sensorineural hearing impairment

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:

32 (show all 28)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 occasional (7.5%) HP:0000252
2 sensorineural hearing impairment 32 very rare (1%) HP:0000407
3 strabismus 32 HP:0000486
4 myopia 32 occasional (7.5%) HP:0000545
5 retinal dystrophy 32 HP:0000556
6 intellectual disability 32 HP:0001249
7 seizures 32 very rare (1%) HP:0001250
8 ataxia 32 HP:0001251
9 muscular hypotonia 32 HP:0001252
10 global developmental delay 32 HP:0001263
11 generalized hypotonia 32 HP:0001290
12 dystonia 32 occasional (7.5%) HP:0001332
13 obesity 32 occasional (7.5%) HP:0001513
14 talipes equinovarus 32 very rare (1%) HP:0001762
15 cerebral atrophy 32 HP:0002059
16 lower limb spasticity 32 very rare (1%) HP:0002061
17 hypoplasia of the corpus callosum 32 occasional (7.5%) HP:0002079
18 generalized myoclonic seizures 32 occasional (7.5%) HP:0002123
19 broad-based gait 32 HP:0002136
20 developmental regression 32 HP:0002376
21 waddling gait 32 very rare (1%) HP:0002515
22 inability to walk 32 occasional (7.5%) HP:0002540
23 scoliosis 32 occasional (7.5%) HP:0002650
24 kyphosis 32 occasional (7.5%) HP:0002808
25 hip dislocation 32 occasional (7.5%) HP:0002827
26 lumbar hyperlordosis 32 HP:0002938
27 short stature 32 occasional (7.5%) HP:0004322
28 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...

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 16)
# 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

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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