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CLCRP2
MCID: CLC055
MIFTS: 20
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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:58
Inheritance:
autosomal recessive
Miscellaneous:
evidence of prenatal fractures one 7-year-old boy and 2 fetuses have been reported (last curated april 2015) HPO:33Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Bone diseases Eye diseases |
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UniProtKB/Swiss-Prot
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76
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). Affiliated tissues include bone, and related phenotypes are macrocephaly and hypertelorism
Description from OMIM:
616294
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Human phenotypes related to Cole-Carpenter Syndrome 2:33 (show all 25)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:616294 |
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MalaCards organs/tissues related to Cole-Carpenter Syndrome 2:42
Bone
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Genes related to Cole-Carpenter Syndrome 2 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Cole-Carpenter Syndrome 2:76
ClinVar genetic disease variations for Cole-Carpenter Syndrome 2:6
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Search
GEO
for disease gene expression data for Cole-Carpenter Syndrome 2.
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