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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/610443
http://purl.bioontology.org/ontology/OMIM/610443
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|---|---|
| Preferred Name | KOOLEN-DE VRIES SYNDROME |
| Synonyms |
MICRODELETION 17q21.31 SYNDROME
KDVS
CHROMOSOME 17q21.31 DELETION SYNDROME
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MICRODELETION 17q21.31 SYNDROME
KDVS
CHROMOSOME 17q21.31 DELETION SYNDROME
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|---|---|
| prefLabel | KOOLEN-DE VRIES SYNDROME
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| Gene Symbol |
KDVS
MSL1V1
KANSL1
KIAA1267
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| Scope Statement | Caused by mutation in the KAT8 regulatory NSL complex subunit 1 gene (KANSL1, 612452.0001) [MOLECULAR BASIS]
Contiguous gene syndrome caused by microdeletion (600-800kb) of chromosome 17q21.31 encompassing genes CRHR1 (122561), MAPT (157140), STH (607067), IMP5 (608284), and KANSL1 (612452) [MOLECULAR BASIS]
Contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism [MISCELLANEOUS]
De novo mutation Estimated prevalence of 1 in 16,000 [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 17q21.31
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 610443
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1864871
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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