CPSQ1
MCID: CRB125
MIFTS: 19

Cerebral Palsy, Spastic Quadriplegic, 1 (CPSQ1)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Cerebral Palsy, Spastic Quadriplegic, 1

MalaCards integrated aliases for Cerebral Palsy, Spastic Quadriplegic, 1:

Name: Cerebral Palsy, Spastic Quadriplegic, 1 58 30 13 6 74
Cpsq1 58 76
Autosomal Recessive Symmetric Spastic Cerebral Palsy 1 76
Palsy, Cerebral, Spastic Quadriplegic, Type 1 41
Cerebral Palsy, Spastic Quadriplegic 1 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
genetic heterogeneity


HPO:

33
cerebral palsy, spastic quadriplegic, 1:
Onset and clinical course infantile onset
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Cerebral Palsy, Spastic Quadriplegic, 1

OMIM : 58 Cerebral palsy (CP) is defined as a nonprogressive but not unchanging disorder of posture or movement, caused by an abnormality of the brain and first evident at the stage of rapid brain development (Hughes and Newton, 1992). The most common forms result from factors surrounding difficulties before or at birth, such as severe perinatal asphyxia, congenital infection, prematurity, and multiple pregnancy (Blair and Stanley, 1988; Stanley, 1994). More rarely, familial clustering or absence of pre- or postpartum events indicate that there are genetic forms of the disorder (Lynex et al., 2004). Cerebral palsy can be classified according to the type of movement disorder: spastic cerebral palsy accounts for approximately 60% of cases and can be subdivided into hemiplegic, diplegic, quadriplegic, and monoplegic types, whereas other forms include athetoid/dyskinetic, ataxic (605388), and mixed (Gustavson et al., 1969). (603513)

MalaCards based summary : Cerebral Palsy, Spastic Quadriplegic, 1, is also known as cpsq1. An important gene associated with Cerebral Palsy, Spastic Quadriplegic, 1 is GAD1 (Glutamate Decarboxylase 1). Affiliated tissues include brain, and related phenotypes are intellectual disability and seizures

UniProtKB/Swiss-Prot : 76 Cerebral palsy, spastic quadriplegic 1: A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest symmetrical, non-progressive spasticity and no adverse perinatal history or obvious underlying alternative diagnosis. Developmental delay, mental retardation and sometimes epilepsy can be part of the clinical picture.

Related Diseases for Cerebral Palsy, Spastic Quadriplegic, 1

Symptoms & Phenotypes for Cerebral Palsy, Spastic Quadriplegic, 1

Human phenotypes related to Cerebral Palsy, Spastic Quadriplegic, 1:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 seizures 33 HP:0001250
3 hyperreflexia 33 HP:0001347
4 scoliosis 33 HP:0002650
5 global developmental delay 33 HP:0001263
6 microcephaly 33 HP:0000252
7 flexion contracture 33 HP:0001371
8 spastic tetraplegia 33 HP:0002510
9 babinski sign 33 HP:0003487
10 cerebral palsy 33 HP:0100021
11 spastic diplegia 33 HP:0001264

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hyperreflexia
hypertonia
mental retardation
extensor plantar responses
spastic quadriplegia
more
Head And Neck Head:
microcephaly

Skeletal Spine:
scoliosis

Skeletal Limbs:
contractures

Clinical features from OMIM:

603513

Drugs & Therapeutics for Cerebral Palsy, Spastic Quadriplegic, 1

Search Clinical Trials , NIH Clinical Center for Cerebral Palsy, Spastic Quadriplegic, 1

Genetic Tests for Cerebral Palsy, Spastic Quadriplegic, 1

Genetic tests related to Cerebral Palsy, Spastic Quadriplegic, 1:

# Genetic test Affiliating Genes
1 Cerebral Palsy, Spastic Quadriplegic, 1 30 GAD1

Anatomical Context for Cerebral Palsy, Spastic Quadriplegic, 1

MalaCards organs/tissues related to Cerebral Palsy, Spastic Quadriplegic, 1:

42
Brain

Publications for Cerebral Palsy, Spastic Quadriplegic, 1

Variations for Cerebral Palsy, Spastic Quadriplegic, 1

UniProtKB/Swiss-Prot genetic disease variations for Cerebral Palsy, Spastic Quadriplegic, 1:

76
# Symbol AA change Variation ID SNP ID
1 GAD1 p.Ser12Cys VAR_031021 rs121918345

ClinVar genetic disease variations for Cerebral Palsy, Spastic Quadriplegic, 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GAD1 NM_000817.2(GAD1): c.35C> G (p.Ser12Cys) single nucleotide variant Pathogenic rs121918345 GRCh37 Chromosome 2, 171675136: 171675136
2 GAD1 NM_000817.2(GAD1): c.35C> G (p.Ser12Cys) single nucleotide variant Pathogenic rs121918345 GRCh38 Chromosome 2, 170818626: 170818626
3 GAD1 NM_000817.2(GAD1): c.399T> C (p.Asp133=) single nucleotide variant Conflicting interpretations of pathogenicity rs112737041 GRCh38 Chromosome 2, 170831044: 170831044
4 GAD1 NM_000817.2(GAD1): c.399T> C (p.Asp133=) single nucleotide variant Conflicting interpretations of pathogenicity rs112737041 GRCh37 Chromosome 2, 171687554: 171687554
5 GAD1 NM_000817.2(GAD1): c.1672C> T (p.Pro558Ser) single nucleotide variant Likely pathogenic rs774953382 GRCh37 Chromosome 2, 171716279: 171716279
6 GAD1 NM_000817.2(GAD1): c.1672C> T (p.Pro558Ser) single nucleotide variant Likely pathogenic rs774953382 GRCh38 Chromosome 2, 170859769: 170859769
7 GAD1 NM_000817.2(GAD1): c.865C> T (p.Gln289Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 170845619: 170845619
8 GAD1 NM_000817.2(GAD1): c.865C> T (p.Gln289Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 171702129: 171702129
9 GAD1 NM_000817.2(GAD1): c.1334C> T (p.Ser445Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 170853943: 170853943
10 GAD1 NM_000817.2(GAD1): c.1334C> T (p.Ser445Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 171710453: 171710453

Expression for Cerebral Palsy, Spastic Quadriplegic, 1

Search GEO for disease gene expression data for Cerebral Palsy, Spastic Quadriplegic, 1.

Pathways for Cerebral Palsy, Spastic Quadriplegic, 1

GO Terms for Cerebral Palsy, Spastic Quadriplegic, 1

Sources for Cerebral Palsy, Spastic Quadriplegic, 1

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75 UMLS via Orphanet
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