CLCRP2
MCID: CLC055
MIFTS: 24
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Cole-Carpenter Syndrome 2 (CLCRP2)
Categories:
Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Cole-Carpenter Syndrome 2:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
variable features present evidence of prenatal fractures HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases Bone diseases |
UniProtKB/Swiss-Prot :
73
Cole-Carpenter syndrome 2: A form of Cole-Carpenter syndrome, a disorder characterized by features of osteogenesis imperfecta such as bone deformities and severe bone fragility with frequent fractures, in association with craniosynostosis, ocular proptosis, hydrocephalus, growth failure and distinctive facial features. Craniofacial findings include marked frontal bossing, midface hypoplasia, and micrognathia. Despite the craniosynostosis and hydrocephalus, intellectual development is normal. CLCRP2 inheritance is autosomal recessive.
MalaCards based summary : Cole-Carpenter Syndrome 2, is also known as clcrp2. An important gene associated with Cole-Carpenter Syndrome 2 is SEC24D (SEC24 Homolog D, COPII Coat Complex Component). Related phenotypes are macrocephaly and frontal bossing OMIM® : 57 Cole-Carpenter syndrome-2 (CLCRP2) is a skeletal dysplasia associated with low bone mass or an osteogenesis imperfecta-like syndrome. It is characterized by bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features such as marked frontal bossing, midface hypoplasia, and micrognathia (summary by Takeyari et al., 2018). (616294) (Updated 05-Mar-2021) |
Human phenotypes related to Cole-Carpenter Syndrome 2:31 (show all 26)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:616294 (Updated 05-Mar-2021) |
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Articles related to Cole-Carpenter Syndrome 2:
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ClinVar genetic disease variations for Cole-Carpenter Syndrome 2:6 (show all 11)
UniProtKB/Swiss-Prot genetic disease variations for Cole-Carpenter Syndrome 2:73
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Search
GEO
for disease gene expression data for Cole-Carpenter Syndrome 2.
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