Details of Disease | DrugMAP

General Information of Disease (ID: DISUXA2M)

Disease Name	KBG syndrome
Synonyms	short stature, characteristic facies, macrodontia, intellectual disability, and skeletal anomalies; short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies; macrodontia, intellectual disability, characteristic facies, short stature, and skeletal anomalies; macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies; KBGS; short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome; KBG syndrome
Definition	KBG syndrome is a rare condition characterized by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISH7SDF: Syndromic intellectual disability DISD715V: Hereditary neurological disease DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISUXA2M: KBG syndrome
Disease Identifiers	MONDO ID MONDO_0007846 MESH ID C537015 UMLS CUI C0220687 OMIM ID 148050 MedGen ID 66317 Orphanet ID 2332 SNOMED CT ID 711156009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ANKRD11	OTV0V70M	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.