CSYN
MCID: CSY001
MIFTS: 58
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C Syndrome (CSYN)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for C Syndrome:
Characteristics:Orphanet epidemiological data:58
c syndrome
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: early childhood; HPO:31
c syndrome:
Clinical modifier death in infancy Inheritance autosomal dominant inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Bone diseases
ICD10:
33
Orphanet: 58
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NIH Rare Diseases :
52
C syndrome , also known as Opitz trigonocephaly syndrome, is characterized by trigonocephaly , severe intellectual disability , hypotonia , variable cardiac defects, redundant (extra folds of) skin, joint and limb abnormalities, and unusual facial features such as upslanted palpebral fissures (upward pointing outside corners of the eyes), epicanthal folds , depressed nasal bridge, and low-set, posteriorly rotated ears. This condition is genetically heterogeneous, meaning that there is evidence of more than one type of inheritance. While many cases are sporadic, autosomal recessive , autosomal dominant , and germline mosaicism have all been suggested. At least some cases of C syndrome have been caused by dysfunction of the CD96 gene .
MalaCards based summary : C Syndrome, also known as opitz trigonocephaly syndrome, is related to inherited metabolic disorder and mucopolysaccharidosis iii, and has symptoms including seizures An important gene associated with C Syndrome is CD96 (CD96 Molecule), and among its related pathways/superpathways are MAPK signaling pathway and Adherens junction. Affiliated tissues include skin, bone and eye, and related phenotypes are intellectual disability and depressed nasal bridge Disease Ontology : 12 A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has material basis in heterozygous mutation in CD96 on chromosome 3q13.1-q13.2. OMIM : 56 The C syndrome, also known as Opitz trigonocephaly syndrome, is a malformation syndrome characterized by trigonocephaly, severe mental retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears (summary by Kaname et al., 2007). C syndrome shows phenotypic overlap with Bohring-Opitz syndrome, or C-like syndrome (605039), a disorder with more severe features than C syndrome, caused by heterozygous mutation in the ASXL1 gene (612990) on chromosome 20q11. (211750) KEGG : 36 Trigonocephaly is a rare form of craniosynostosis characterized by the premature closure of the metopic suture. It has been reported that mutations in FGFR1 and FREM1 can be associated with trigonocephaly. UniProtKB/Swiss-Prot : 73 C syndrome: A syndrome characterized by trigonocephaly, severe mental retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears. Wikipedia : 74 Trigonocephaly is a congenital condition of premature fusion of the metopic suture (from Greek metopon,... more... |
Human phenotypes related to C Syndrome:58 31 (show top 50) (show all 82)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:211750UMLS symptoms related to C Syndrome:seizures GenomeRNAi Phenotypes related to C Syndrome according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to C Syndrome:45 (show all 11)
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Interventional clinical trials:
Cochrane evidence based reviews: opitz trigonocephaly syndrome |
MalaCards organs/tissues related to C Syndrome:40
Skin,
Bone,
Eye,
Kidney,
Heart,
Brain,
Endothelial
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Articles related to C Syndrome:(show top 50) (show all 74)
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ClinVar genetic disease variations for C Syndrome:6 (show top 50) (show all 84)
UniProtKB/Swiss-Prot genetic disease variations for C Syndrome:73
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Pathways related to C Syndrome according to KEGG:36
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Cellular components related to C Syndrome according to GeneCards Suite gene sharing:
Biological processes related to C Syndrome according to GeneCards Suite gene sharing:(show all 12)
Molecular functions related to C Syndrome according to GeneCards Suite gene sharing:
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