MCID: HNN001
MIFTS: 25

Hennekam Syndrome malady

Genetic diseases, Rare diseases categories
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Summaries for Hennekam Syndrome

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Genetics Home Reference:21 Hennekam syndrome is an inherited disorder resulting from malformation of the lymphatic system, which is part of both the circulatory system and immune system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body.

MalaCards based summary: Hennekam Syndrome, also known as hennekam lymphangiectasia lymphedema syndrome, is related to hennekam lymphangiectasia-lymphedema syndrome 2 and ausems wittebol-post hennekam syndrome. An important gene associated with Hennekam Syndrome is CCBE1 (collagen and calcium binding EGF domains 1). Affiliated tissues include kidney.

Wikipedia:65 Hennekam syndrome also known as Hennekam lymphangiectasia?lymphedema syndrome and intestinal... more...

Aliases & Classifications for Hennekam Syndrome

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Hennekam Syndrome, Aliases & Descriptions:

Name: Hennekam Syndrome 42 21
Hennekam Lymphangiectasia Lymphedema Syndrome 42 20 22 62
Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome 42
Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome 21
Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome 21
 
Lymphangiectasies and Lymphedema Hennekam Type 42
Hennekam Lymphangiectasia-Lymphedema Syndrome 21
Lymphatic Dysplasia, Generalized 62
Generalized Lymphatic Dysplasia 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Related Diseases for Hennekam Syndrome

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Diseases related to Hennekam Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1hennekam lymphangiectasia-lymphedema syndrome 210.7
2ausems wittebol-post hennekam syndrome10.4
3lymphedema10.4
4mental retardation10.3
5cleft lip - retinopathy10.2
6chylous ascites10.1
7non-immune hydrops fetalis10.1
8immune hydrops fetalis10.1
9craniosynostosis10.1
10cerebritis10.1
11congenital pulmonary lymphangiectasia10.1
12hydrops fetalis10.1
13hennekam lymphangiectasia-lymphedema syndrome 110.1

Graphical network of diseases related to Hennekam Syndrome:



Diseases related to hennekam syndrome

Symptoms for Hennekam Syndrome

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Drugs & Therapeutics for Hennekam Syndrome

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Drug clinical trials:

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Genetic Tests for Hennekam Syndrome

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Genetic tests related to Hennekam Syndrome:

id Genetic test Affiliating Genes
1 Hennekam Lymphangiectasia-Lymphedema Syndrome20 22 CCBE1

Anatomical Context for Hennekam Syndrome

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MalaCards organs/tissues related to Hennekam Syndrome:

32
Kidney

Animal Models for Hennekam Syndrome or affiliated genes

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Publications for Hennekam Syndrome

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Articles related to Hennekam Syndrome:

(show all 16)
idTitleAuthorsYear
1
Hennekam syndrome: a rare and often ignored cause of intestinal lymphangiectasia. (24870712)
2014
2
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. (24913602)
2014
3
Hennekam syndrome: a rare cause of primary lymphedema. (25148287)
2014
4
Octreotide in Hennekam syndrome-associated intestinal lymphangiectasia. (23180957)
2012
5
Cutaneous manifestations and massive genital involvement in Hennekam syndrome. (16780470)
2006
6
Further delineation of Hennekam syndrome. (14564208)
2003
7
Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia. (12794699)
2003
8
Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review. (12376947)
2002
9
Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: further case of Hennekam syndrome with a severe phenotype. (12124738)
2002
10
Early death in two sisters with Hennekam syndrome. (10925377)
2000
11
Two brothers with Hennekam syndrome and cerebral abnormalities. (10649792)
2000
12
Lymphoscintigraphic manifestations of Hennekam syndrome--a case report. (10609768)
1999
13
Expansion of the phenotype in Hennekam syndrome: a case with new manifestations. (9217224)
1997
14
Craniosynostosis and kidney malformation in a case of Hennekam syndrome. (7645602)
1995
15
Protein-losing gastroenteropathy with facial anomaly and growth retardation: a mild case of Hennekam syndrome. (8465855)
1993
16
Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face: confirmation of the Hennekam syndrome. (1897580)
1991

Variations for Hennekam Syndrome

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Expression for genes affiliated with Hennekam Syndrome

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Expression patterns in normal tissues for genes affiliated with Hennekam Syndrome

Search GEO for disease gene expression data for Hennekam Syndrome.

Pathways for genes affiliated with Hennekam Syndrome

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Compounds for genes affiliated with Hennekam Syndrome

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GO Terms for genes affiliated with Hennekam Syndrome

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Products for genes affiliated with Hennekam Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Hennekam Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet