C Syndrome (CSYN)

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Disease Ontology 12 DOID:0111581 OMIM 56 211750 KEGG 36 H01008 H01207 MeSH 43 C537418 D003398 SNOMED-CT 67 715409005 ICD10 via Orphanet 33 Q87.8

UMLS via Orphanet 72 C0796095 Orphanet 58 ORPHA1308 MedGen 41 C0796095 SNOMED-CT via HPO 68 111266001 123983008 128602000 128613002 14760008 157265008 17190001 17268007 18735004 201093004 204878001 204962002 205131007 22066006 224958001 225595004 228156007 237836003 246545002 246799009 247578003 249310005 249321001 249729002 253251006 253549006 258211005 263681008 271611007 27272007 276662009 28740008 301348000 30288003 311897005 313307000 32113001 32958008 36440009 367510009 391987005 398151007 398152000 398309008 40159009 41729002 432788009 441787004 441798003 54711002 58588007 63567004 64217002 708670007 74370006 80212005 80515008 81793007 82525005 83330001 84757009 86203003 87979003 8800006 91138005 91175000 95427009 95515009 9634000 more UMLS 71 C0796095

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 cleft lip/palate and retinitis pigmentosa, 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, eye and bone, and related phenotypes are short neck and intellectual disability

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...

Clinical features from OMIM:

211750

Search NIH Clinical Center for C Syndrome

Search GEO for disease gene expression data for C Syndrome.