Preferred Label : Cerebral palsy, spastic quadriplegic, 1;
Obsolete resource : true;
Moved to : 612900; 619026;
Symbol : CPSQ1;
CISMeF acronym : CPSQ1;
Type : Phenotype, molecular basis known;
Description : 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). - Genetic
Heterogeneity of Spastic Quadriplegic Cerebral Palsy See also CPSQ2 (612900), caused
by deletion of the ANKRD15 gene (KANK1; 607704) inherited on the paternal allele.
Related phenotypes that were formerly classified in the CPSQ series include spastic
paraplegia-47 (SPG47; 614066), spastic paraplegia-50 (SPG50; 612936), spastic paraplegia-51
(SPG51; 613744), and spastic paraplegia-52 (614067).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the glutamate decarboxylase 1 gene (GAD1, 605363.0001);
Prefixed ID : 603513;
Origin ID : 603513;
UMLS CUI : C2751938;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
