CPSQ1
MCID: CRB125
MIFTS: 22

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 57 29 13 6 72
Cpsq1 57 74
Autosomal Recessive Symmetric Spastic Cerebral Palsy 1 74
Palsy, Cerebral, Spastic Quadriplegic, Type 1 40
Cerebral Palsy, Spastic Quadriplegic 1 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
genetic heterogeneity


HPO:

32
cerebral palsy, spastic quadriplegic, 1:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course infantile onset


Classifications:



External Ids:

MeSH 44 D002547
UMLS 72 C2751938

Summaries for Cerebral Palsy, Spastic Quadriplegic, 1

OMIM : 57 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 : 74 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:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 hyperreflexia 32 HP:0001347
4 scoliosis 32 HP:0002650
5 global developmental delay 32 HP:0001263
6 microcephaly 32 HP:0000252
7 flexion contracture 32 HP:0001371
8 spastic tetraplegia 32 HP:0002510
9 babinski sign 32 HP:0003487
10 cerebral palsy 32 HP:0100021
11 spastic diplegia 32 HP:0001264

Symptoms via clinical synopsis from OMIM:

57
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 29 GAD1

Anatomical Context for Cerebral Palsy, Spastic Quadriplegic, 1

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

41
Brain

Publications for Cerebral Palsy, Spastic Quadriplegic, 1

Articles related to Cerebral Palsy, Spastic Quadriplegic, 1:

(show all 11)
# Title Authors PMID Year
1
Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders. 8 71
15571623 2004
2
Symmetry of neurological signs in Pakistani patients with probable inherited spastic cerebral palsy. 8 71
9084927 1997
3
Practice parameter: diagnostic assessment of the child with cerebral palsy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. 71
15037681 2004
4
A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25. 8
9973289 1999
5
The aetiology of cerebral palsy. 8
8200323 1994
6
A five-year prospective study of the health of children in different ethnic groups, with particular reference to the effect of inbreeding. 8
8044647 1993
7
Genetic aspects of cerebral palsy. 8
1544520 1992
8
Intrapartum asphyxia: a rare cause of cerebral palsy. 8
3351675 1988
9
Trends in birth prevalence of cerebral palsy. 8
3592729 1987
10
Recurrence risks in families of children with symmetrical spasticity. 8
870357 1977
11
Identical syndromes of cerebral palsy in the same family. 8
5824822 1969

Variations for Cerebral Palsy, Spastic Quadriplegic, 1

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GAD1 NM_000817.3(GAD1): c.35C> G (p.Ser12Cys) single nucleotide variant Pathogenic rs121918345 2:171675136-171675136 2:170818626-170818626
2 GAD1 NM_000817.3(GAD1): c.1672C> T (p.Pro558Ser) single nucleotide variant Likely pathogenic rs774953382 2:171716279-171716279 2:170859769-170859769
3 GAD1 NM_000817.3(GAD1): c.399T> C (p.Asp133=) single nucleotide variant Conflicting interpretations of pathogenicity rs112737041 2:171687554-171687554 2:170831044-170831044
4 GAD1 NM_000817.3(GAD1): c.865C> T (p.Gln289Ter) single nucleotide variant Uncertain significance 2:171702129-171702129 2:170845619-170845619
5 GAD1 NM_000817.3(GAD1): c.1334C> T (p.Ser445Phe) single nucleotide variant Uncertain significance 2:171710453-171710453 2:170853943-170853943
6 GAD1 NM_000817.3(GAD1): c.34T> A (p.Ser12Thr) single nucleotide variant Uncertain significance 2:171675135-171675135 2:170818625-170818625
7 GAD1 NM_000817.3(GAD1): c.266G> A (p.Arg89Gln) single nucleotide variant Uncertain significance 2:171686105-171686105 2:170829595-170829595
8 GAD1 NM_000817.3(GAD1): c.1251_1252delinsTT (p.Val418Phe) indel Uncertain significance 2:171709290-171709291 2:170852780-170852781
9 GAD1 NM_000817.3(GAD1): c.1002+4T> G single nucleotide variant Uncertain significance 2:171702577-171702577 2:170846067-170846067
10 GAD1 NM_000817.3(GAD1): c.1611+5G> A single nucleotide variant Uncertain significance 2:171715408-171715408 2:170858898-170858898

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

74
# Symbol AA change Variation ID SNP ID
1 GAD1 p.Ser12Cys VAR_031021 rs121918345

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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73 UMLS via Orphanet
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