Details of Disease

General Information of Disease (ID: DISNODDM)

Disease Name Kleefstra syndrome 1
Synonyms chromosome 9q34.3 deletion syndrome; Kleefstra syndrome; 9q-syndrome; KLEFS1; Kleefstra syndrome 1
Definition An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3.
Disease Hierarchy
DISHH9SN: Kleefstra syndrome
DISNODDM: Kleefstra syndrome 1
Disease Identifiers
MONDO ID
MONDO_0027407
MESH ID
C563043
UMLS CUI
C0795833
OMIM ID
610253
MedGen ID
208639

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
EHMT1 TTOFXD7 Strong Autosomal dominant [1]
EHMT1 TTOFXD7 Definitive Genetic Variation [2]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GATAD2B OTJL128N Limited Biomarker [3]
MED13L OTSP1W0F Limited Genetic Variation [4]
EHMT1 OT6QC8GK Strong Autosomal dominant [1]
GOLGA6A OTHU9MRX Strong Genetic Variation [5]
RCBTB1 OTAYELI8 Strong Genetic Variation [5]
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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 Otopathology in Kleefstra Syndrome: A Case Report.Laryngoscope. 2020 Aug;130(8):2028-2033. doi: 10.1002/lary.28380. Epub 2019 Nov 21.
3 Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities.Am J Med Genet A. 2017 Jul;173(7):1821-1830. doi: 10.1002/ajmg.a.38280. Epub 2017 May 12.
4 Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.Eur J Med Genet. 2017 Sep;60(9):451-464. doi: 10.1016/j.ejmg.2017.06.004. Epub 2017 Jun 21.
5 Biochemical validation of EHMT1 missense mutations in Kleefstra syndrome.J Hum Genet. 2018 May;63(5):555-562. doi: 10.1038/s10038-018-0413-3. Epub 2018 Feb 19.