CPSQ1
MCID: CRB125
MIFTS: 25

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 56 29 13 6 71
Cpsq1 56 73
Autosomal Recessive Symmetric Spastic Cerebral Palsy 1 73
Palsy, Cerebral, Spastic Quadriplegic, Type 1 39
Cerebral Palsy, Spastic Quadriplegic 1 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
genetic heterogeneity


HPO:

31
cerebral palsy, spastic quadriplegic, 1:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course infantile onset


Classifications:



Summaries for Cerebral Palsy, Spastic Quadriplegic, 1

OMIM : 56 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 global developmental delay

UniProtKB/Swiss-Prot : 73 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:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 global developmental delay 31 HP:0001263
3 scoliosis 31 HP:0002650
4 microcephaly 31 HP:0000252
5 flexion contracture 31 HP:0001371
6 spastic tetraplegia 31 HP:0002510
7 hyperreflexia 31 HP:0001347
8 cerebral palsy 31 HP:0100021
9 babinski sign 31 HP:0003487
10 spastic diplegia 31 HP:0001264
11 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis

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

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:

40
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. 6 56
15571623 2004
2
Symmetry of neurological signs in Pakistani patients with probable inherited spastic cerebral palsy. 6 56
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. 6
15037681 2004
4
A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25. 56
9973289 1999
5
The aetiology of cerebral palsy. 56
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. 56
8044647 1993
7
Genetic aspects of cerebral palsy. 56
1544520 1992
8
Intrapartum asphyxia: a rare cause of cerebral palsy. 56
3351675 1988
9
Trends in birth prevalence of cerebral palsy. 56
3592729 1987
10
Recurrence risks in families of children with symmetrical spasticity. 56
870357 1977
11
Identical syndromes of cerebral palsy in the same family. 56
5824822 1969

Variations for Cerebral Palsy, Spastic Quadriplegic, 1

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

6 (show top 50) (show all 76) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GAD1 NM_000817.3(GAD1):c.35C>G (p.Ser12Cys)SNV Pathogenic 5060 rs121918345 2:171675136-171675136 2:170818626-170818626
2 GAD1 NM_000817.3(GAD1):c.1402T>G (p.Trp468Gly)SNV Likely pathogenic 800908 2:171710521-171710521 2:170854011-170854011
3 GAD1 NM_000817.3(GAD1):c.399T>C (p.Asp133=)SNV Conflicting interpretations of pathogenicity 332230 rs112737041 2:171687554-171687554 2:170831044-170831044
4 GAD1 NM_000817.3(GAD1):c.1173C>T (p.Asn391=)SNV Conflicting interpretations of pathogenicity 332235 rs34856125 2:171705849-171705849 2:170849339-170849339
5 GAD1 NM_000817.3(GAD1):c.1251C>T (p.Leu417=)SNV Conflicting interpretations of pathogenicity 332236 rs35426017 2:171709290-171709290 2:170852780-170852780
6 GAD1 NM_000817.3(GAD1):c.807G>A (p.Pro269=)SNV Conflicting interpretations of pathogenicity 332232 rs34100397 2:171702071-171702071 2:170845561-170845561
7 GAD1 NM_000817.3(GAD1):c.1252G>T (p.Val418Phe)SNV Uncertain significance 332237 rs143058194 2:171709291-171709291 2:170852781-170852781
8 GAD1 NM_000817.3(GAD1):c.1290G>A (p.Met430Ile)SNV Uncertain significance 332238 rs761887714 2:171710409-171710409 2:170853899-170853899
9 GAD1 NM_000817.3(GAD1):c.*394G>ASNV Uncertain significance 332245 rs746308188 2:171716786-171716786 2:170860276-170860276
10 GAD1 NM_000817.3(GAD1):c.*1205G>ASNV Uncertain significance 332253 rs45537831 2:171717597-171717597 2:170861087-170861087
11 GAD1 NM_000817.3(GAD1):c.-29A>GSNV Uncertain significance 332224 rs551237040 2:171675073-171675073 2:170818563-170818563
12 GAD1 NM_000817.3(GAD1):c.*431G>ASNV Uncertain significance 332246 rs780421116 2:171716823-171716823 2:170860313-170860313
13 GAD1 NM_013445.3(GAD1):c.-292T>CSNV Uncertain significance 332213 rs754019434 2:171673334-171673334 2:170816824-170816824
14 GAD1 NM_013445.3(GAD1):c.-259G>ASNV Uncertain significance 332214 rs545676026 2:171673367-171673367 2:170816857-170816857
15 GAD1 NM_000817.3(GAD1):c.-53C>ASNV Uncertain significance 332222 rs886055097 2:171675049-171675049 2:170818539-170818539
16 GAD1 NM_000817.3(GAD1):c.17C>T (p.Pro6Leu)SNV Uncertain significance 332225 rs886055098 2:171675118-171675118 2:170818608-170818608
17 GAD1 NM_000817.3(GAD1):c.380A>T (p.Tyr127Phe)SNV Uncertain significance 332229 rs141004978 2:171687535-171687535 2:170831025-170831025
18 GAD1 NM_000817.3(GAD1):c.867+9G>ASNV Uncertain significance 332233 rs369785577 2:171702140-171702140 2:170845630-170845630
19 GAD1 NM_013445.3(GAD1):c.-401T>GSNV Uncertain significance 332212 rs375137598 2:171673225-171673225 2:170816715-170816715
20 GAD1 NM_000817.3(GAD1):c.*764G>TSNV Uncertain significance 332249 rs886055100 2:171717156-171717156 2:170860646-170860646
21 GAD1 NM_000817.3(GAD1):c.-176G>CSNV Uncertain significance 332216 rs886055095 2:171673446-171673446 2:170816936-170816936
22 GAD1 NM_000817.3(GAD1):c.-161G>ASNV Uncertain significance 332218 rs886055096 2:171673461-171673461 2:170816951-170816951
23 GAD1 NM_000817.3(GAD1):c.-161G>TSNV Uncertain significance 332219 rs886055096 2:171673461-171673461 2:170816951-170816951
24 GAD1 NM_000817.3(GAD1):c.265C>T (p.Arg89Trp)SNV Uncertain significance 332227 rs150841255 2:171686104-171686104 2:170829594-170829594
25 GAD1 NM_000817.3(GAD1):c.1525G>C (p.Glu509Gln)SNV Uncertain significance 849804 2:171715317-171715317 2:170858807-170858807
26 GAD1 NM_000817.3(GAD1):c.1638G>C (p.Met546Ile)SNV Uncertain significance 843952 2:171716245-171716245 2:170859735-170859735
27 GAD1 NM_013445.3(GAD1):c.-399G>TSNV Uncertain significance 892920 2:171673227-171673227 2:170816717-170816717
28 GAD1 NM_013445.3(GAD1):c.-296C>TSNV Uncertain significance 892921 2:171673330-171673330 2:170816820-170816820
29 GAD1 NM_013445.3(GAD1):c.-280C>TSNV Uncertain significance 893728 2:171673346-171673346 2:170816836-170816836
30 GAD1 NM_013445.3(GAD1):c.-230T>CSNV Uncertain significance 893729 2:171673396-171673396 2:170816886-170816886
31 GAD1 NM_000817.3(GAD1):c.-91G>CSNV Uncertain significance 893994 2:171673531-171673531 2:170817021-170817021
32 GAD1 NM_000817.3(GAD1):c.865C>T (p.Gln289Ter)SNV Uncertain significance 565722 rs1181224255 2:171702129-171702129 2:170845619-170845619
33 GAD1 NM_000817.3(GAD1):c.1334C>T (p.Ser445Phe)SNV Uncertain significance 580637 rs1169710215 2:171710453-171710453 2:170853943-170853943
34 GAD1 NM_000817.3(GAD1):c.34T>A (p.Ser12Thr)SNV Uncertain significance 648983 2:171675135-171675135 2:170818625-170818625
35 GAD1 NM_000817.3(GAD1):c.266G>A (p.Arg89Gln)SNV Uncertain significance 648089 2:171686105-171686105 2:170829595-170829595
36 GAD1 NM_000817.3(GAD1):c.1251_1252delinsTT (p.Val418Phe)indel Uncertain significance 640674 2:171709290-171709291 2:170852780-170852781
37 GAD1 NM_000817.3(GAD1):c.1002+4T>GSNV Uncertain significance 660060 2:171702577-171702577 2:170846067-170846067
38 GAD1 NM_000817.3(GAD1):c.1611+5G>ASNV Uncertain significance 648176 2:171715408-171715408 2:170858898-170858898
39 GAD1 NM_000817.3(GAD1):c.268C>T (p.Arg90Cys)SNV Uncertain significance 332228 rs373042715 2:171686107-171686107 2:170829597-170829597
40 GAD1 NM_000817.3(GAD1):c.682A>C (p.Ile228Leu)SNV Uncertain significance 332231 rs45566933 2:171700598-171700598 2:170844088-170844088
41 GAD1 NM_000817.3(GAD1):c.1614G>C (p.Val538=)SNV Uncertain significance 332243 rs886055099 2:171716221-171716221 2:170859711-170859711
42 GAD1 NM_000817.3(GAD1):c.147C>T (p.Gly49=)SNV Uncertain significance 894403 2:171685986-171685986 2:170829476-170829476
43 GAD1 NM_000817.3(GAD1):c.264C>G (p.Phe88Leu)SNV Uncertain significance 894404 2:171686103-171686103 2:170829593-170829593
44 GAD1 NM_000817.3(GAD1):c.933A>G (p.Ile311Met)SNV Uncertain significance 892957 2:171702281-171702281 2:170845771-170845771
45 GAD1 NM_000817.3(GAD1):c.1200C>T (p.Thr400=)SNV Uncertain significance 893183 2:171709239-171709239 2:170852729-170852729
46 GAD1 NM_000817.3(GAD1):c.*242A>CSNV Uncertain significance 894030 2:171716634-171716634 2:170860124-170860124
47 GAD1 NM_000817.3(GAD1):c.*419T>GSNV Uncertain significance 894430 2:171716811-171716811 2:170860301-170860301
48 GAD1 NM_000817.3(GAD1):c.*561A>CSNV Uncertain significance 894431 2:171716953-171716953 2:170860443-170860443
49 GAD1 NM_000817.3(GAD1):c.*737G>ASNV Uncertain significance 894432 2:171717129-171717129 2:170860619-170860619
50 GAD1 NM_000817.3(GAD1):c.*989C>TSNV Uncertain significance 892999 2:171717381-171717381 2:170860871-170860871

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

73
# Symbol AA change Variation ID SNP ID
1 GAD1 p.Ser12Cys VAR_031021 rs121918345

Expression for Cerebral Palsy, Spastic Quadriplegic, 1

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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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