MCID: HNN001
MIFTS: 50

Hennekam Syndrome

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

Aliases & Classifications for Hennekam Syndrome

MalaCards integrated aliases for Hennekam Syndrome:

Name: Hennekam Syndrome 12 76 53 25 59 15
Hennekam Lymphangiectasia Lymphedema Syndrome 53 44 73
Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome 25 59
Hennekam Lymphangiectasia-Lymphedema Syndrome 12 25
Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome 53
Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome 25
Lymphedem-Lymphangiectasia-Intellectual Disability Syndrome 12
Lymphangiectasies and Lymphedema Hennekam Type 53
Generalized Lymphatic Dysplasia 25

Characteristics:

Orphanet epidemiological data:

59
hennekam syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



Summaries for Hennekam Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Hennekam Syndrome, also known as hennekam lymphangiectasia lymphedema syndrome, is related to van maldergem syndrome 1 and chylothorax, congenital. An important gene associated with Hennekam Syndrome is CCBE1 (Collagen And Calcium Binding EGF Domains 1), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and Pathways in cancer. Affiliated tissues include skin, eye and kidney, and related phenotypes are hypertelorism and low-set ears

Disease Ontology : 12 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 : 25 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 : 76 Hennekam syndrome also known as intestinal lymphagiectasia–lymphedema–mental retardation syndrome, is an... more...

Related Diseases for Hennekam Syndrome

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



Diseases related to Hennekam Syndrome

Symptoms & Phenotypes for Hennekam Syndrome

Human phenotypes related to Hennekam Syndrome:

59 32 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
3 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
4 delayed eruption of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000684
5 lymphedema 59 32 hallmark (90%) Very frequent (99-80%) HP:0001004
6 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
7 mild postnatal growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001530
8 lymphopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001888
9 malabsorption 59 32 hallmark (90%) Very frequent (99-80%) HP:0002024
10 decreased antibody level in blood 59 32 hallmark (90%) Very frequent (99-80%) HP:0004313
11 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
12 abnormality of dental morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0006482
13 external ear malformation 59 32 hallmark (90%) Very frequent (99-80%) HP:0008572
14 reduced number of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0009804
15 increased number of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0011069
16 flat face 59 32 hallmark (90%) Very frequent (99-80%) HP:0012368
17 lymphangioma 59 32 hallmark (90%) Very frequent (99-80%) HP:0100764
18 gingival overgrowth 59 32 frequent (33%) Frequent (79-30%) HP:0000212
19 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
20 broad forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000337
21 glaucoma 59 32 frequent (33%) Frequent (79-30%) HP:0000501
22 narrow chest 59 32 frequent (33%) Frequent (79-30%) HP:0000774
23 erysipelas 59 32 frequent (33%) Frequent (79-30%) HP:0001055
24 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
25 ascites 59 32 frequent (33%) Frequent (79-30%) HP:0001541
26 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
27 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
28 lymphadenopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002716
29 horseshoe kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000085
30 ectopic kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000086
31 narrow mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000160
32 retrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000278
33 short philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000322
34 conductive hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000405
35 pachygyria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001302
36 craniosynostosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001363
37 pericardial effusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0001698
38 abnormality of the foot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001760
39 hydrops fetalis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001789
40 pyloric stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002021
41 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
42 sparse axillary hair 59 32 occasional (7.5%) Occasional (29-5%) HP:0002215
43 hypocalcemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002901
44 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
45 pulmonary lymphangiectasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0006521
46 chylothorax 59 32 occasional (7.5%) Occasional (29-5%) HP:0010310
47 arteriovenous malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0100026
48 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
49 benign neoplasm of the central nervous system 59 32 occasional (7.5%) Occasional (29-5%) HP:0100835
50 abnormal facial shape 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Hennekam Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.92 ADAMTS3 ALB DCHS1 EGF FAT4 FLT4
2 cardiovascular system MP:0005385 9.91 ADAMTS3 DCHS1 FAT4 FLT4 KITLG PROX1
3 immune system MP:0005387 9.91 ADAMTS3 CCBE1 CDH17 EGF FLT4 GJC2
4 mortality/aging MP:0010768 9.65 FLT4 GJC2 KITLG PROX1 VEGFC ADAMTS3
5 liver/biliary system MP:0005370 9.63 ADAMTS3 ALB CCBE1 FLT4 KITLG PROX1
6 normal MP:0002873 9.17 ADAMTS2 ALB CCBE1 EGF FLT4 GJC2

Drugs & Therapeutics for Hennekam Syndrome

Search Clinical Trials , NIH Clinical Center for Hennekam Syndrome

Cochrane evidence based reviews: hennekam lymphangiectasia lymphedema syndrome

Genetic Tests for Hennekam Syndrome

Anatomical Context for Hennekam Syndrome

MalaCards organs/tissues related to Hennekam Syndrome:

41
Skin, Eye, Kidney

Publications for Hennekam Syndrome

Articles related to Hennekam Syndrome:

(show all 25)
# Title Authors Year
1
Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes. ( 29681106 )
2018
2
Protein Losing Enteropathy in Hennekam Syndrome. ( 29327272 )
2018
3
Hennekam Syndrome: A Case Report. ( 29560340 )
2018
4
A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression. ( 26686525 )
2016
5
Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome. ( 27345729 )
2016
6
Intestinal Lymphangiestasia with Hennekam Syndrome. ( 26863383 )
2016
7
[A complicated case study: Hennekam syndrome]. ( 25616299 )
2015
8
A Rare Cause of Chylothorax: Hennekam Syndrome. ( 29404075 )
2015
9
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature. ( 25925991 )
2015
10
Hennekam syndrome: a rare cause of primary lymphedema. ( 25148287 )
2014
11
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. ( 24913602 )
2014
12
Hennekam syndrome: a rare and often ignored cause of intestinal lymphangiectasia. ( 24870712 )
2014
13
Octreotide in Hennekam syndrome-associated intestinal lymphangiectasia. ( 23180957 )
2012
14
Cutaneous manifestations and massive genital involvement in Hennekam syndrome. ( 16780470 )
2006
15
Further delineation of Hennekam syndrome. ( 14564208 )
2003
16
Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia. ( 12794699 )
2003
17
Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: further case of Hennekam syndrome with a severe phenotype. ( 12124738 )
2002
18
Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review. ( 12376947 )
2002
19
Early death in two sisters with Hennekam syndrome. ( 10925377 )
2000
20
Two brothers with Hennekam syndrome and cerebral abnormalities. ( 10649792 )
2000
21
Lymphoscintigraphic manifestations of Hennekam syndrome--a case report. ( 10609768 )
1999
22
Expansion of the phenotype in Hennekam syndrome: a case with new manifestations. ( 9217224 )
1997
23
Craniosynostosis and kidney malformation in a case of Hennekam syndrome. ( 7645602 )
1995
24
Protein-losing gastroenteropathy with facial anomaly and growth retardation: a mild case of Hennekam syndrome. ( 8465855 )
1993
25
Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face: confirmation of the Hennekam syndrome. ( 1897580 )
1991

Variations for Hennekam Syndrome

Expression for Hennekam Syndrome

Search GEO for disease gene expression data for Hennekam Syndrome.

Pathways for Hennekam Syndrome

GO Terms for Hennekam Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.7 ADAMTS2 ADAMTS3 ALB CCBE1 EGF KITLG
2 extracellular region GO:0005576 9.56 ADAMTS2 ADAMTS3 ALB CCBE1 EGF FLT4
3 platelet alpha granule lumen GO:0031093 8.8 ALB EGF VEGFC

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.93 CDH17 DCHS1 FAT4 KITLG
2 angiogenesis GO:0001525 9.8 EGF FLT4 VEGFC
3 positive regulation of cell proliferation GO:0008284 9.8 EGF FLT4 KITLG PROX1 VEGFC
4 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.75 CDH17 DCHS1 FAT4
5 platelet degranulation GO:0002576 9.74 ALB EGF VEGFC
6 kidney development GO:0001822 9.73 DCHS1 FAT4 PROX1
7 lung development GO:0030324 9.71 ADAMTS2 CCBE1 PROX1
8 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.7 EGF KITLG VEGFC
9 positive regulation of endothelial cell proliferation GO:0001938 9.67 FLT4 PROX1 VEGFC
10 collagen fibril organization GO:0030199 9.62 ADAMTS2 ADAMTS3
11 digestive tract development GO:0048565 9.61 DCHS1 FAT4
12 respiratory gaseous exchange GO:0007585 9.61 CCBE1 FLT4
13 hippo signaling GO:0035329 9.6 DCHS1 FAT4
14 sprouting angiogenesis GO:0002040 9.59 CCBE1 FLT4
15 positive regulation of vascular endothelial growth factor production GO:0010575 9.58 CCBE1 FLT4
16 respiratory system process GO:0003016 9.55 CCBE1 FLT4
17 embryonic retina morphogenesis in camera-type eye GO:0060059 9.51 EGF PROX1
18 positive regulation of endothelial cell migration GO:0010595 9.5 CCBE1 FLT4 PROX1
19 nephron development GO:0072006 9.48 DCHS1 FAT4
20 venous blood vessel morphogenesis GO:0048845 9.46 CCBE1 PROX1
21 ossification involved in bone maturation GO:0043931 9.43 DCHS1 FAT4
22 positive regulation of vascular endothelial growth factor signaling pathway GO:1900748 9.37 ADAMTS3 CCBE1
23 condensed mesenchymal cell proliferation GO:0072137 9.26 DCHS1 FAT4
24 positive regulation of lymphangiogenesis GO:1901492 9.16 CCBE1 VEGFC
25 lymph vessel development GO:0001945 9.13 CCBE1 FLT4 PROX1
26 lymphangiogenesis GO:0001946 8.8 CCBE1 FLT4 PROX1

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

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.13 EGF KITLG VEGFC
2 calcium ion binding GO:0005509 9.02 CCBE1 CDH17 DCHS1 EGF FAT4

Sources for Hennekam Syndrome

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10 dbSNP
11 DGIdb
17 ExPASy
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32 HPO
33 ICD10
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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