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Hennekam lymphangiectasia-lymphedema syndrome

MedGen UID:
137946
•Concept ID:
C0340834
•
Disease or Syndrome
Synonyms: Hennekam syndrome; Intestinal lymphagiectasia lymphedema intellectual deficit syndrome; Lymphangiectasies and lymphedema Hennekam type
SNOMED CT: Hennekam lymphangiectasia-lymphedema syndrome (234146006); Hennekam syndrome (234146006); Lymphedema, lymphangiectasia, intellectual disability syndrome (234146006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016256
OMIM®: 235510
OMIM® Phenotypic series: PS235510
Orphanet: ORPHA2136

Definition

A rare syndromic lymphedema characterized by the association of primary lymphedema, intestinal lymphangiectasia, intellectual deficit and unusual facial characteristics. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHennekam lymphangiectasia-lymphedema syndrome
Follow this link to review classifications for Hennekam lymphangiectasia-lymphedema syndrome in Orphanet.

Professional guidelines

PubMed

In-silico assessment of high-risk non-synonymous SNPs in ADAMTS3 gene associated with Hennekam syndrome and their impact on protein stability and function.
Shinwari K, Wu Y, Rehman HM, Xiao N, Bolkov M, Tuzankina I, Chereshnev V
BMC Bioinformatics 2023 Jun 15;24(1):251. doi: 10.1186/s12859-023-05361-6. PMID: 37322437Free PMC Article

Recent clinical studies

Etiology

In-silico assessment of high-risk non-synonymous SNPs in ADAMTS3 gene associated with Hennekam syndrome and their impact on protein stability and function.
Shinwari K, Wu Y, Rehman HM, Xiao N, Bolkov M, Tuzankina I, Chereshnev V
BMC Bioinformatics 2023 Jun 15;24(1):251. doi: 10.1186/s12859-023-05361-6. PMID: 37322437Free PMC Article
An approach to familial lymphoedema.
Jones GE, Mansour S
Clin Med (Lond) 2017 Dec;17(6):552-557. doi: 10.7861/clinmedicine.17-6-552. PMID: 29196357Free PMC Article
Indocyanine green lymphography and lymphaticovenous anastomosis for generalized lymphatic dysplasia with pleural effusion and ascites in neonates.
Mihara M, Hara H, Shibasaki J, Seki Y, Hayashi A, Iida T, Adachi S, Uchida Y, Kaneko H, Haragi M, Murakami A
Ann Vasc Surg 2015 Aug;29(6):1111-22. Epub 2015 May 27 doi: 10.1016/j.avsg.2015.02.013. PMID: 26025477
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.
Alders M, Al-Gazali L, Cordeiro I, Dallapiccola B, Garavelli L, Tuysuz B, Salehi F, Haagmans MA, Mook OR, Majoie CB, Mannens MM, Hennekam RC
Hum Genet 2014 Sep;133(9):1161-7. Epub 2014 Jun 7 doi: 10.1007/s00439-014-1456-y. PMID: 24913602

Diagnosis

Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome.
Boone PM, Paterson S, Mohajeri K, Zhu W, Genetti CA, Tai DJC, Nori N, Agrawal PB, Bacino CA, Bi W, Talkowski ME, Hogan BM, Rodan LH
Am J Med Genet A 2020 Jan;182(1):189-194. Epub 2019 Oct 21 doi: 10.1002/ajmg.a.61392. PMID: 31633297Free PMC Article
An approach to familial lymphoedema.
Jones GE, Mansour S
Clin Med (Lond) 2017 Dec;17(6):552-557. doi: 10.7861/clinmedicine.17-6-552. PMID: 29196357Free PMC Article
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.
Frosk P, Chodirker B, Simard L, El-Matary W, Hanlon-Dearman A, Schwartzentruber J, Majewski J; FORGE Canada Consortium, Rockman-Greenberg C
BMC Med Genet 2015 Apr 30;16:28. doi: 10.1186/s12881-015-0175-0. PMID: 25925991Free PMC Article
Hennekam syndrome: a rare cause of primary lymphedema.
Elmansour I, Chiheb S, Benchikhi H
Dermatol Online J 2014 Aug 17;20(8) PMID: 25148287
Octreotide in Hennekam syndrome-associated intestinal lymphangiectasia.
Al Sinani S, Rawahi YA, Abdoon H
World J Gastroenterol 2012 Nov 21;18(43):6333-7. doi: 10.3748/wjg.v18.i43.6333. PMID: 23180957Free PMC Article

Therapy

Octreotide in Hennekam syndrome-associated intestinal lymphangiectasia.
Al Sinani S, Rawahi YA, Abdoon H
World J Gastroenterol 2012 Nov 21;18(43):6333-7. doi: 10.3748/wjg.v18.i43.6333. PMID: 23180957Free PMC Article

Prognosis

In-silico assessment of high-risk non-synonymous SNPs in ADAMTS3 gene associated with Hennekam syndrome and their impact on protein stability and function.
Shinwari K, Wu Y, Rehman HM, Xiao N, Bolkov M, Tuzankina I, Chereshnev V
BMC Bioinformatics 2023 Jun 15;24(1):251. doi: 10.1186/s12859-023-05361-6. PMID: 37322437Free PMC Article
Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, In Silico Analysis.
Shinwari K, Guojun L, Deryabina SS, Bolkov MA, Tuzankina IA, Chereshnev VA
ScientificWorldJournal 2021;2021:6642626. Epub 2021 Jun 10 doi: 10.1155/2021/6642626. PMID: 34234628Free PMC Article
Hennekam syndrome: an uncommon cause of chylous ascites and intestinal lymphangiectasia in the tropics.
Menon J, Venkatesh V, Thirunavukkarasu B, Lal SB
BMJ Case Rep 2019 Jul 19;12(7) doi: 10.1136/bcr-2019-229419. PMID: 31326900Free PMC Article
Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.
Brouillard P, Dupont L, Helaers R, Coulie R, Tiller GE, Peeden J, Colige A, Vikkula M
Hum Mol Genet 2017 Nov 1;26(21):4095-4104. doi: 10.1093/hmg/ddx297. PMID: 28985353
CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.
Shah S, Conlin LK, Gomez L, Aagenaes Ø, Eiklid K, Knisely AS, Mennuti MT, Matthews RP, Spinner NB, Bull LN
PLoS One 2013;8(9):e75770. Epub 2013 Sep 26 doi: 10.1371/journal.pone.0075770. PMID: 24086631Free PMC Article

Clinical prediction guides

In-silico assessment of high-risk non-synonymous SNPs in ADAMTS3 gene associated with Hennekam syndrome and their impact on protein stability and function.
Shinwari K, Wu Y, Rehman HM, Xiao N, Bolkov M, Tuzankina I, Chereshnev V
BMC Bioinformatics 2023 Jun 15;24(1):251. doi: 10.1186/s12859-023-05361-6. PMID: 37322437Free PMC Article
Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, In Silico Analysis.
Shinwari K, Guojun L, Deryabina SS, Bolkov MA, Tuzankina IA, Chereshnev VA
ScientificWorldJournal 2021;2021:6642626. Epub 2021 Jun 10 doi: 10.1155/2021/6642626. PMID: 34234628Free PMC Article
Intestinal lymphangiectasia in a 3-month-old girl: A case report of Hennekam syndrome caused by CCBE1 mutation.
Fattorusso A, Pieri ES, Dell'Isola GB, Prontera P, Mencaroni E, Stangoni G, Esposito S
Medicine (Baltimore) 2020 Jul 2;99(27):e20995. doi: 10.1097/MD.0000000000020995. PMID: 32629717Free PMC Article
Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.
Brouillard P, Dupont L, Helaers R, Coulie R, Tiller GE, Peeden J, Colige A, Vikkula M
Hum Mol Genet 2017 Nov 1;26(21):4095-4104. doi: 10.1093/hmg/ddx297. PMID: 28985353
CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.
Shah S, Conlin LK, Gomez L, Aagenaes Ø, Eiklid K, Knisely AS, Mennuti MT, Matthews RP, Spinner NB, Bull LN
PLoS One 2013;8(9):e75770. Epub 2013 Sep 26 doi: 10.1371/journal.pone.0075770. PMID: 24086631Free PMC Article

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