Details of Disease

General Information of Disease (ID: DISCN11I)

Disease Name Cleft soft palate
Synonyms cleft velum palatinum; cleft soft palate; soft cleft palate; cleft velum
Definition Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.
Disease Hierarchy
DIS6G5TF: Cleft palate
DISCN11I: Cleft soft palate
Disease Identifiers
MONDO ID
MONDO_0007338
MESH ID
C562950
UMLS CUI
C0432098
OMIM ID
119570
MedGen ID
98471
HPO ID
HP:0000185
Orphanet ID
99772
SNOMED CT ID
253997002

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
CDH1 TTLAWO6 Moderate Autosomal dominant [1]
------------------------------------------------------------------------------------
This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CDH1 OTFJMXPM Moderate Autosomal dominant [1]
CALML3 OTM8DNQU Strong Biomarker [2]
COTL1 OT6YCNLF Strong Biomarker [2]
CSRP3 OTECBJMV Strong Biomarker [2]
DNAJC5 OTCZDXAL Strong Genetic Variation [2]
SATB2 OT2W80XC Strong Biomarker [3]
GRHL3 OT1V4ZEH Definitive SusceptibilityMutation [4]
------------------------------------------------------------------------------------
⏷ Show the Full List of 7 DOT(s)

References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 A Comparative Study of Oral Microbiota in Infants with Complete Cleft Lip and Palate or Cleft Soft Palate.Biomed Res Int. 2017;2017:1460243. doi: 10.1155/2017/1460243. Epub 2017 Mar 14.
3 Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development.Am J Hum Genet. 2006 Oct;79(4):668-78. doi: 10.1086/508214. Epub 2006 Aug 30.
4 A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.Am J Hum Genet. 2016 Apr 7;98(4):744-54. doi: 10.1016/j.ajhg.2016.02.014. Epub 2016 Mar 24.