Details of Disease

General Information of Disease (ID: DISCW45F)

Disease Name X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Synonyms
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome; chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, X-linked dominant
Definition A rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISYKSRF: Genetic disease
DISCW45F: X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Disease Identifiers
MONDO ID
MONDO_0010463
UMLS CUI
C3275476
OMIM ID
300863
MedGen ID
477107
Orphanet ID
163966

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
HDAC6 TT5ZKDI Limited Biomarker [1]
HDAC6 TT5ZKDI Moderate X-linked [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HDAC6 OT9W9MXQ Moderate X-linked [2]
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References

1 De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. Am J Hum Genet. 2016 Sep 1;99(3):711-719. doi: 10.1016/j.ajhg.2016.06.029. Epub 2016 Aug 18.
2 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.