MCID: HNN001
MIFTS: 48

Hennekam Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Skin diseases, Fetal diseases, Blood diseases, Immune diseases

Aliases & Classifications for Hennekam Syndrome

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Sources:
11Disease Ontology, 46NIH Rare Diseases, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 23GeneTests, 12diseasecard, 25GTR, 37MeSH, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Hennekam Syndrome:

Name: Hennekam Syndrome 11 46 24 13 52
Hennekam Lymphangiectasia-Lymphedema Syndrome 11 23 24 12
Hennekam Lymphangiectasia Lymphedema Syndrome 46 25 37 66
Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome 24 52
Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome 46
 
Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome 24
Lymphedem-Lymphangiectasia-Intellectual Disability Syndrome 11
Lymphangiectasies and Lymphedema Hennekam Type 46
Generalized Lymphatic Dysplasia 24

Characteristics:

Orphanet epidemiological data:

52
hennekam syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

Classifications:



External Ids:

Disease Ontology11 DOID:0060366
MeSH37 C537255
Orphanet52 ORPHA2136
SNOMED-CT60 234146006
ICD10 via Orphanet29 Q87.8
UMLS via Orphanet67 C0340834

Summaries for Hennekam Syndrome

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NIH Rare Diseases:46 Hennekam syndrome is a rare condition that affects the lymphatic system. signs and symptoms of the condition are generally noticeable at birth and vary significantly from person to person, even within the same family. affected people generally experience lymphangiectasia (lymphatic vessels that are abnormally expanded), lymphedema, and distinctive facial features (i.e. a flattened appearance to the middle of the face, puffy eyelids, widely spaced eyes, small ears, and a small mouth). other common features include intellectual disability, growth delay, respiratory problems, camptodactyly (permanently bent fingers and toes) and cutaneous syndactyly (fusion of the skin between the fingers and toes). hennekam syndrome is caused by changes (mutations) in the ccbe1 or fat4 genes and is inherited in an autosomal recessive manner. treatment is based on the signs and symptoms present in each person. last updated: 2/17/2016

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, and has symptoms including malar flattening, hypertelorism and low-set, posteriorly rotated ears. An important gene associated with Hennekam Syndrome is CCBE1 (Collagen And Calcium Binding EGF Domains 1), and among its related pathways are VEGFR3 signaling in lymphatic endothelium and VEGF binds to VEGFR leading to receptor dimerization. Affiliated tissues include skin, eye and kidney, and related mouse phenotypes are liver/biliary system and digestive/alimentary.

Disease Ontology:11 A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. it is inherited in an autosomal recessive pattern. most individuals with hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. congenital extremity and genital lymphedema is present in most patients.

Genetics Home Reference:24 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.

Wikipedia:69 Hennekam syndrome also known as Hennekam lymphangiectasia–lymphedema syndrome and intestinal... more...

Related Diseases for Hennekam Syndrome

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

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1hennekam lymphangiectasia-lymphedema syndrome 212.7
2ausems wittebol-post hennekam syndrome11.9
3cleft lip-retinopathy syndrome11.0
4hennekam lymphangiectasia-lymphedema syndrome 110.9
5synpolydactyly10.5CCBE1, FAT4
6lymphocytes absent10.4FLT4, PROX1
7silicosiderosis10.3FLT4, PROX1
8calcaneonavicular coalition10.3FLT4, VEGFC
9congenital cystic eye multiple ocular and intracranial anomalies10.3FLT4, PROX1
10hyperlucent lung10.3FLT4, PROX1
11epidermolysis bullosa10.3FLT4, PROX1
12diamond-blackfan anemia 410.2ALB, CCBE1
13ocular melanoma10.2FLT4, PROX1
14lymphedema10.2
15pediatric infratentorial ependymoma10.2FLT4, VEGFC
16chikungunya10.2FLT4, PROX1
17polysyndactyly with cardiac malformation10.1ALB, SERPINA1
18horner's syndrome10.1ALB, SERPINA1
19hyperuricemia10.1ALB, SERPINA1
20duodenal disease10.0ALB, SERPINA1
21carbohydrate metabolic disorder10.0EGF, FAT4
22leydig cell tumor10.0FLT4, PROX1, VEGFC
23sweat gland cancer10.0ALB, SERPINA1
24acute liver failure9.9ALB, EGF
25contagious pustular dermatitis9.9ALB, SERPINA1
26intracranial hemorrhage in brain cerebrovascular malformations9.9FLT4, PROX1, VEGFC
27central nervous system adult germ cell tumor9.9ALB, SERPINA1
28craniosynostosis9.9
29van maldergem syndrome9.9
30cerebritis9.9
31hydrops fetalis9.9
32hepatic coma9.9ALB, SERPINA1
33pericoronitis9.8KITLG, SERPINA1
34pulpitis9.8ALB, EGF
35acute gonococcal cervicitis9.8ALB, CCBE1, SERPINA1
36laryngeal tuberculosis9.7ALB, SERPINA1
37lymphopenia9.6ALB, SERPINA1
38eczematous dermatitis of eyelid9.4ALB, SERPINA1
39lymphoid leukemia9.4CCBE1, FAT4, FLT4, PROX1, VEGFC
40orofaciodigital syndrome vii6.9ALB, CCBE1, EGF, FAT4, FLT4, KITLG

Graphical network of the top 20 diseases related to Hennekam Syndrome:



Diseases related to hennekam syndrome

Symptoms for Hennekam Syndrome

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HPO human phenotypes related to Hennekam Syndrome:

(show all 46)
id Description Frequency HPO Source Accession
1 malar flattening hallmark (90%) HP:0000272
2 hypertelorism hallmark (90%) HP:0000316
3 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
4 delayed eruption of teeth hallmark (90%) HP:0000684
5 lymphedema hallmark (90%) HP:0001004
6 lymphopenia hallmark (90%) HP:0001888
7 abnormal facial shape hallmark (90%) HP:0001999
8 malabsorption hallmark (90%) HP:0002024
9 decreased antibody level in blood hallmark (90%) HP:0004313
10 depressed nasal bridge hallmark (90%) HP:0005280
11 abnormality of dental morphology hallmark (90%) HP:0006482
12 external ear malformation hallmark (90%) HP:0008572
13 reduced number of teeth hallmark (90%) HP:0009804
14 increased number of teeth hallmark (90%) HP:0011069
15 cognitive impairment hallmark (90%) HP:0100543
16 lymphangioma hallmark (90%) HP:0100764
17 abnormality of the genital system typical (50%) HP:0000078
18 gingival overgrowth typical (50%) HP:0000212
19 epicanthus typical (50%) HP:0000286
20 broad forehead typical (50%) HP:0000337
21 narrow chest typical (50%) HP:0000774
22 erysipelas typical (50%) HP:0001055
23 seizures typical (50%) HP:0001250
24 ascites typical (50%) HP:0001541
25 splenomegaly typical (50%) HP:0001744
26 recurrent respiratory infections typical (50%) HP:0002205
27 lymphadenopathy typical (50%) HP:0002716
28 narrow mouth occasional (7.5%) HP:0000160
29 short philtrum occasional (7.5%) HP:0000322
30 micrognathia occasional (7.5%) HP:0000347
31 conductive hearing impairment occasional (7.5%) HP:0000405
32 glaucoma occasional (7.5%) HP:0000501
33 craniosynostosis occasional (7.5%) HP:0001363
34 abnormality of the pericardium occasional (7.5%) HP:0001697
35 abnormality of the foot occasional (7.5%) HP:0001760
36 hydrops fetalis occasional (7.5%) HP:0001789
37 pyloric stenosis occasional (7.5%) HP:0002021
38 respiratory insufficiency occasional (7.5%) HP:0002093
39 abnormality of the pleura occasional (7.5%) HP:0002103
40 abnormality of neuronal migration occasional (7.5%) HP:0002269
41 hypocalcemia occasional (7.5%) HP:0002901
42 finger syndactyly occasional (7.5%) HP:0006101
43 arteriovenous malformation occasional (7.5%) HP:0100026
44 camptodactyly of finger occasional (7.5%) HP:0100490
45 abnormal localization of kidney occasional (7.5%) HP:0100542
46 benign neoplasm of the central nervous system occasional (7.5%) HP:0100835

Drugs & Therapeutics for Hennekam Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hennekam Syndrome


Cochrane evidence based reviews: hennekam lymphangiectasia lymphedema syndrome

Genetic Tests for Hennekam Syndrome

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Genetic tests related to Hennekam Syndrome:

id Genetic test Affiliating Genes
1 Hennekam Lymphangiectasia-Lymphedema Syndrome25 23 CCBE1

Anatomical Context for Hennekam Syndrome

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MalaCards organs/tissues related to Hennekam Syndrome:

34
Skin, Eye, Kidney

Animal Models for Hennekam Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Hennekam Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.0ALB, CCBE1, FLT4, KITLG, PROX1
2MP:00053817.3ALB, EGF, FAT4, FLT4, KITLG, PROX1
3MP:00053877.3CCBE1, EGF, FLT4, KITLG, PROX1, VEGFC

Publications for Hennekam Syndrome

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Articles related to Hennekam Syndrome:

(show all 20)
idTitleAuthorsYear
1
A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression. (26686525)
2016
2
Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome. (27345729)
2016
3
Intestinal Lymphangiestasia with Hennekam Syndrome. (26863383)
2016
4
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature. (25925991)
2015
5
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. (24913602)
2014
6
Hennekam syndrome: a rare cause of primary lymphedema. (25148287)
2014
7
Hennekam syndrome: a rare and often ignored cause of intestinal lymphangiectasia. (24870712)
2014
8
Octreotide in Hennekam syndrome-associated intestinal lymphangiectasia. (23180957)
2012
9
Cutaneous manifestations and massive genital involvement in Hennekam syndrome. (16780470)
2006
10
Further delineation of Hennekam syndrome. (14564208)
2003
11
Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia. (12794699)
2003
12
Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review. (12376947)
2002
13
Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: further case of Hennekam syndrome with a severe phenotype. (12124738)
2002
14
Early death in two sisters with Hennekam syndrome. (10925377)
2000
15
Two brothers with Hennekam syndrome and cerebral abnormalities. (10649792)
2000
16
Lymphoscintigraphic manifestations of Hennekam syndrome--a case report. (10609768)
1999
17
Expansion of the phenotype in Hennekam syndrome: a case with new manifestations. (9217224)
1997
18
Craniosynostosis and kidney malformation in a case of Hennekam syndrome. (7645602)
1995
19
Protein-losing gastroenteropathy with facial anomaly and growth retardation: a mild case of Hennekam syndrome. (8465855)
1993
20
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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Search GEO for disease gene expression data for Hennekam Syndrome.

Pathways for genes affiliated with Hennekam Syndrome

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Pathways related to Hennekam Syndrome according to GeneCards Suite gene sharing:

(show all 15)
idSuper pathwaysScoreTop Affiliating Genes
19.7FLT4, VEGFC
2
Show member pathways
9.7FLT4, VEGFC
39.5EGF, FLT4
4
Show member pathways
9.2FLT4, PROX1, VEGFC
5
Show member pathways
9.2EGF, FLT4, VEGFC
69.2EGF, FLT4, VEGFC
78.8EGF, KITLG, VEGFC
8
Show member pathways
8.3EGF, FLT4, KITLG, VEGFC
9
Show member pathways
8.3EGF, FLT4, KITLG, VEGFC
108.3EGF, FLT4, KITLG, VEGFC
11
Show member pathways
8.3EGF, FLT4, KITLG, VEGFC
12
Show member pathways
8.3EGF, FLT4, KITLG, VEGFC
138.3EGF, FLT4, KITLG, VEGFC
14
Show member pathways
8.3EGF, FLT4, KITLG, VEGFC
157.5ALB, EGF, KITLG, PROX1, SERPINA1

GO Terms for genes affiliated with Hennekam Syndrome

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Cellular components related to Hennekam Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.0ALB, EGF, SERPINA1, VEGFC
2extracellular spaceGO:00056157.3ALB, CCBE1, EGF, KITLG, SERPINA1, VEGFC
3extracellular regionGO:00055766.9ALB, EGF, FLT4, KITLG, SERPINA1, VEGFC

Biological processes related to Hennekam Syndrome according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of lymphangiogenesisGO:190149210.3CCBE1, VEGFC
2respiratory system processGO:000301610.3CCBE1, FLT4
3sprouting angiogenesisGO:000204010.2CCBE1, FLT4
4venous blood vessel morphogenesisGO:004884510.2CCBE1, PROX1
5lymph vessel developmentGO:000194510.2FLT4, PROX1
6respiratory gaseous exchangeGO:000758510.0CCBE1, FLT4
7positive regulation of vascular endothelial growth factor productionGO:001057510.0CCBE1, FLT4
8positive regulation of endothelial cell migrationGO:00105959.8CCBE1, FLT4, PROX1
9lymphangiogenesisGO:00019469.8CCBE1, FLT4, PROX1
10positive regulation of MAP kinase activityGO:00434069.2EGF, KITLG
11positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.1EGF, KITLG, VEGFC
12platelet degranulationGO:00025768.8ALB, EGF, SERPINA1, VEGFC
13positive regulation of cell proliferationGO:00082847.9EGF, FLT4, KITLG, PROX1, VEGFC

Molecular functions related to Hennekam Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.4EGF, KITLG
2growth factor activityGO:00080838.8EGF, KITLG, VEGFC

Sources for Hennekam Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet