Details of Disease

General Information of Disease (ID: DISWR677)

Disease Name KAT6B-related multiple congenital anomalies syndrome
Synonyms KAT6B-related disorder
Definition The obsoletion of this term has been reversed in the Mondo release of January 2024.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
DISWR677: KAT6B-related multiple congenital anomalies syndrome
Disease Identifiers
MONDO ID
MONDO_0036042
UMLS CUI
C5680266
MedGen ID
1843234
Orphanet ID
597749

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
KAT6B TTH4VJL Definitive Autosomal dominant [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KAT6B OTMUDTAH Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.