Details of Disease | DrugMAP

General Information of Disease (ID: DISIQGJQ)

Disease Name	Hennekam syndrome
Synonyms	intestinal lymphagiectasia lymphedema intellectual deficit syndrome; lymphangiectasies and lymphedema Hennekam type; lymphedem-lymphangiectasia-intellectual disability syndrome; lymphedema-lymphangiectasia-intellectual disability syndrome; Hennekam lymphangiectasia lymphedema syndrome; Hennekam lymphangiectasia-lymphedema syndrome
Definition	Hennekam syndrome is characterized by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS4D8VL: Lymphatic malformation DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISIQGJQ: Hennekam syndrome
Disease Identifiers	MONDO ID MONDO_0016256 MESH ID C537255 UMLS CUI C0340834 MedGen ID 137946 Orphanet ID 2136 SNOMED CT ID 234146006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADAMTS3	OT2U6VF5	Supportive	Autosomal recessive	[1]
CCBE1	OTO4UIDB	Supportive	Autosomal recessive	[2]
FAT4	OT7QONNV	Supportive	Autosomal recessive	[3]
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References

1	Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3. Hum Mol Genet. 2017 Nov 1;26(21):4095-4104. doi: 10.1093/hmg/ddx297.
2	Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. Nat Genet. 2009 Dec;41(12):1272-4. doi: 10.1038/ng.484.
3	Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. Hum Genet. 2014 Sep;133(9):1161-7. doi: 10.1007/s00439-014-1456-y. Epub 2014 Jun 7.