Details of Disease | DrugMAP

General Information of Disease (ID: DISDV6BC)

Disease Name	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
Synonyms	macrothrombocytopenia and mental retardation syndrome; macrothrombocytopenia and intellectual disability syndrome; TKS; TAKENOUCHI-Kosaki syndrome; Takenouchi-Kosaki syndrome
Disease Hierarchy	DIS6SVEE: Syndromic disease DISAWDAB: Congenital hematological disorder DISFXMTP: Syndromic constitutional thrombocytopenia DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISDV6BC: Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
Disease Identifiers	MONDO ID MONDO_0014757 UMLS CUI C4225222 OMIM ID 616737 MedGen ID 906646 Orphanet ID 487796 SNOMED CT ID 1172685001

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
CDC42	OT5QBC5M	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.