Details of Disease

General Information of Disease (ID: DISARMUU)

Disease Name Cleft palate with or without ankyloglossia, X-linked
Synonyms
X-linked cleft palate; cleft palate X-linked; cleft palate, X-linked; CPX; cleft palate with ankyloglossia; cleft palate with or without ankyloglossia, X-linked; X-linked cleft palate and ankyloglossia
Definition
X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.
Disease Hierarchy
DIS6G5TF: Cleft palate
DISARMUU: Cleft palate with or without ankyloglossia, X-linked
Disease Identifiers
MONDO ID
MONDO_0010560
UMLS CUI
C1844830
OMIM ID
303400
MedGen ID
375520
Orphanet ID
324601

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
EBP TT4VQZX Limited Genetic Variation [1]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CPOX OTIAY121 Limited Genetic Variation [1]
CPXCR1 OT92BHK1 Strong Genetic Variation [2]
KLHL4 OTEFI623 Strong Biomarker [3]
TBX22 OTT1RM26 Definitive X-linked recessive [4]
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References

1 Alternative splicing, phylogenetic analysis, and craniofacial expression of zebrafish tbx22.Dev Dyn. 2009 Jun;238(6):1605-12. doi: 10.1002/dvdy.21962.
2 Physical and transcriptional mapping of the X-linked cleft palate and ankyloglossia (CPX) critical region.Hum Genet. 2001 Jun;108(6):537-45. doi: 10.1007/s004390100518.
3 Identification and characterization of KLHL4, a novel human homologue of the Drosophila Kelch gene that maps within the X-linked cleft palate and Ankyloglossia (CPX) critical region.Genomics. 2001 Mar 1;72(2):128-36. doi: 10.1006/geno.2000.6478.
4 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.