MCID: HNN001
MIFTS: 46

Hennekam Syndrome

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

Aliases & Classifications for Hennekam Syndrome

MalaCards integrated aliases for Hennekam Syndrome:

Name: Hennekam Syndrome 12 74 52 25 58 15
Hennekam Lymphangiectasia Lymphedema Syndrome 52 43 71
Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome 25 58
Hennekam Lymphangiectasia-Lymphedema Syndrome 12 25
Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome 52
Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome 25
Lymphedem-Lymphangiectasia-Intellectual Disability Syndrome 12
Lymphangiectasies and Lymphedema Hennekam Type 52
Generalized Lymphatic Dysplasia 25

Characteristics:

Orphanet epidemiological data:

58
hennekam syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare circulatory system diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare immunological diseases


Summaries for Hennekam Syndrome

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. The characteristic signs and symptoms of Hennekam syndrome are lymphatic vessels that are abnormally expanded (lymphangiectasia), particularly the vessels that transport lymph fluid to and from the intestines; puffiness or swelling caused by a buildup of fluid (lymphedema); and unusual facial features. Lymphangiectasia often impedes the flow of lymph fluid and can cause the affected vessels to break open (rupture). In the intestines, ruptured vessels can lead to accumulation of lymph fluid, which interferes with the absorption of nutrients, fats, and proteins. Accumulation of lymph fluid in the abdomen can cause swelling (chylous ascites). Lymphangiectasia can also affect the kidneys, thyroid gland, the outer covering of the lungs (the pleura), the membrane covering the heart (pericardium), or the skin. The lymphedema in Hennekam syndrome is often noticeable at birth and usually affects the face and limbs. Severely affected infants may have extensive swelling caused by fluid accumulation before birth (hydrops fetalis). The lymphedema usually affects one side of the body more severely than the other (asymmetric) and slowly worsens over time. Facial features of people with Hennekam syndrome may include a flattened appearance to the middle of the face and the bridge of the nose, puffy eyelids, widely spaced eyes (hypertelorism), small ears, and a small mouth with overgrowth of the gums (gingival hypertrophy). Affected individuals may also have an unusually small head (microcephaly) and premature fusion of the skull bones (craniosynostosis). Individuals with Hennekam syndrome often have intellectual disability that ranges from mild to severe, although most are on the mild end of the range and some have normal intellect. Many individuals with Hennekam syndrome have growth delay, respiratory problems, permanently bent fingers and toes (camptodactyly), or fusion of the skin between the fingers and toes (cutaneous syndactyly). Abnormalities found in a few individuals with Hennekam syndrome include a moderate to severe shortage of red blood cells (anemia) resulting from an inadequate amount (deficiency) of iron in the bloodstream, multiple spleens (polysplenia), misplaced kidneys, genital anomalies, a soft out-pouching around the belly-button (umbilical hernia), heart abnormalities, hearing loss, excessive body hair growth (hirsutism), a narrow upper chest that may have a sunken appearance (pectus excavatum), an abnormal side-to-side curvature of the spine (scoliosis), and inward- and upward-turning feet (clubfeet). The signs and symptoms of Hennekam syndrome vary widely among affected individuals, even those within the same family. Life expectancy depends on the severity of the condition and can vary from death in childhood to survival into adulthood.

MalaCards based summary : Hennekam Syndrome, also known as hennekam lymphangiectasia lymphedema syndrome, is related to hennekam lymphangiectasia-lymphedema syndrome 1 and hereditary lymphedema i. An important gene associated with Hennekam Syndrome is CCBE1 (Collagen And Calcium Binding EGF Domains 1), and among its related pathways/superpathways are Angiogenesis (CST) and HIF1Alpha Pathway. Affiliated tissues include skin, eye and kidney, and related phenotypes are intellectual disability and depressed nasal bridge

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.

NIH Rare Diseases : 52 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.

Wikipedia : 74 Hennekam syndrome also known as intestinal lymphagiectasia-lymphedema-mental retardation syndrome, is an... more...

Related Diseases for Hennekam Syndrome

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

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 hennekam lymphangiectasia-lymphedema syndrome 1 33.1 FAT4 CCBE1
2 hereditary lymphedema i 30.9 VEGFC SOX18 PROX1 FOXC2 FLT4 CCBE1
3 congenital lymphedema 30.8 VEGFC FOXC2 FLT4
4 lymphangioma 30.6 VEGFC PROX1 FLT4
5 van maldergem syndrome 2 30.4 FAT4 DCHS1
6 van maldergem syndrome 30.2 WWC2 FBXL7 FAT4 DCHS1 CCBE1
7 hydrops fetalis, nonimmune 30.2 FLT4 EPHB4
8 primary lymphedema 30.1 VEGFC GJC2 FOXC2 FLT4 EPHB4
9 chylothorax, congenital 29.6 VEGFC SOX18 PROX1 GJC2 FOXC2 FLT4
10 hennekam lymphangiectasia-lymphedema syndrome 3 13.2
11 menke-hennekam syndrome 2 12.6
12 menke-hennekam syndrome 1 12.6
13 piezo1-related generalized lymphatic dysplasia with non-immune hydrops fetalis 12.5
14 lymphatic malformation 6 12.3
15 ausems wittebol-post hennekam syndrome 12.2
16 ephb4-related lymphatic-related hydrops fetalis 11.6
17 cleft lip-retinopathy syndrome 11.3
18 lymphangiectasis 10.7
19 thumb deformity 10.5 EP300 CREBBP
20 autosomal recessive disease 10.4
21 cholestasis-lymphedema syndrome 10.4 SOX18 CCBE1
22 rubinstein-taybi syndrome 1 10.4 EP300 CREBBP
23 human t-cell leukemia virus type 2 10.4 EP300 CREBBP
24 yellow nail syndrome 10.4 SOX18 FOXC2
25 hypertelorism 10.4
26 alacrima, achalasia, and mental retardation syndrome 10.4
27 protein-losing enteropathy 10.4
28 kaposiform hemangioendothelioma 10.3 PROX1 FLT4
29 lymphatic malformation 5 10.3 SOX18 FOXC2 CCBE1
30 skin angiosarcoma 10.3 FLT4 EPHB4
31 breast angiosarcoma 10.3 PROX1 FLT4
32 gorham's disease 10.3 VEGFC FLT4
33 klippel-trenaunay-weber syndrome 10.3 SOX18 FOXC2 FLT4
34 lymphangiosarcoma 10.3 VEGFC PROX1 FLT4
35 lymphangitis 10.3 VEGFC PROX1 FLT4
36 hypotrichosis-lymphedema-telangiectasia syndrome 10.3 SOX18 PROX1 FOXC2
37 lymphatic malformation 1 10.3 VEGFC GJC2 FLT4
38 van maldergem syndrome 1 10.2
39 capillary lymphangioma 10.2 PROX1 FLT4
40 ascites, chylous 10.2
41 hennekam lymphangiectasia-lymphedema syndrome 2 10.2
42 deficiency anemia 10.2
43 iron deficiency anemia 10.2
44 iron metabolism disease 10.2
45 agammaglobulinemia 10.2
46 primary intestinal lymphangiectasia 10.2
47 hereditary lymphedema 10.1 VEGFC SOX18 FOXC2 FLT4 CCBE1
48 immune hydrops fetalis 10.1
49 cystic lymphangioma 10.1 PROX1 FOXC2
50 human t-cell leukemia virus type 1 10.0 EP300 CREBBP

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:

58 31 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
5 malabsorption 58 31 hallmark (90%) Very frequent (99-80%) HP:0002024
6 lymphedema 58 31 hallmark (90%) Very frequent (99-80%) HP:0001004
7 flat face 58 31 hallmark (90%) Very frequent (99-80%) HP:0012368
8 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
9 external ear malformation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008572
10 delayed eruption of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000684
11 increased number of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0011069
12 lymphopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001888
13 reduced number of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009804
14 abnormality of dental morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0006482
15 lymphangioma 58 31 hallmark (90%) Very frequent (99-80%) HP:0100764
16 mild postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001530
17 decreased circulating antibody level 31 hallmark (90%) HP:0004313
18 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
19 gingival overgrowth 58 31 frequent (33%) Frequent (79-30%) HP:0000212
20 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
21 ascites 58 31 frequent (33%) Frequent (79-30%) HP:0001541
22 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
23 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
24 broad forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000337
25 narrow chest 58 31 frequent (33%) Frequent (79-30%) HP:0000774
26 lymphadenopathy 58 31 frequent (33%) Frequent (79-30%) HP:0002716
27 erysipelas 58 31 frequent (33%) Frequent (79-30%) HP:0001055
28 seizure 31 frequent (33%) HP:0001250
29 hydrops fetalis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001789
30 arteriovenous malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0100026
31 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
32 retrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000278
33 horseshoe kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000085
34 ectopic kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000086
35 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
36 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
37 benign neoplasm of the central nervous system 58 31 occasional (7.5%) Occasional (29-5%) HP:0100835
38 short philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000322
39 hypocalcemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002901
40 abnormality of the foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001760
41 craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001363
42 pyloric stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002021
43 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
44 camptodactyly of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0100490
45 pachygyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001302
46 pericardial effusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0001698
47 sparse axillary hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002215
48 chylothorax 58 31 occasional (7.5%) Occasional (29-5%) HP:0010310
49 pulmonary lymphangiectasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006521
50 seizures 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Hennekam Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.27 ADAMTS3 CREBBP DCHS1 EP300 EPHB4 FAT4
2 growth/size/body region MP:0005378 10.15 ADAMTS2 ADAMTS3 CREBBP DCHS1 EP300 EPHB4
3 mortality/aging MP:0010768 10.13 ADAMTS3 CCBE1 CREBBP DCHS1 EP300 EPHB4
4 immune system MP:0005387 10.1 ADAMTS3 CCBE1 CREBBP EP300 EPHB4 FLT4
5 digestive/alimentary MP:0005381 10.09 ADAMTS3 CREBBP DCHS1 EP300 FAT4 FLT4
6 embryo MP:0005380 10.06 ADAMTS3 CREBBP DCHS1 EP300 EPHB4 FAT4
7 normal MP:0002873 9.9 ADAMTS2 CCBE1 CREBBP EP300 FJX1 FLT4
8 renal/urinary system MP:0005367 9.56 ADAMTS3 DCHS1 EP300 EPHB4 FAT4 FJX1
9 respiratory system MP:0005388 9.17 ADAMTS2 CREBBP DCHS1 EP300 FAT4 FOXC2

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:

40
Skin, Eye, Kidney, Lung, Bone, Spleen, Heart

Publications for Hennekam Syndrome

Articles related to Hennekam Syndrome:

(show top 50) (show all 60)
# Title Authors PMID Year
1
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. 6 61
24913602 2014
2
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. 61 6
19935664 2009
3
Further delineation of Hennekam syndrome. 6 61
14564208 2003
4
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. 6
24056717 2013
5
Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance. 6
22473091 2012
6
Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. 6
19911200 2010
7
Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation. 6
2624276 1989
8
[Variant analysis of CCBE1 gene in a case of Hennekam lymphangiectasia-lymphedema syndrome type 1]. 61
32472549 2020
9
Atypical cadherin FAT4 orchestrates lymphatic endothelial cell polarity in response to flow. 61
32182215 2020
10
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. 61
31633297 2020
11
Hennekam syndrome: an uncommon cause of chylous ascites and intestinal lymphangiectasia in the tropics. 61
31326900 2019
12
Intestinal lymphangiectasia-A novel finding in Van Maldergem syndrome challenging the role of lymphedema for the distinction from Hennekam syndrome. 61
31063239 2019
13
Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP. 61
30892814 2019
14
Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1. 61
30564329 2018
15
An additional case of Hennekam lymphangiectasia-lymphedema syndrome caused by loss-of-function mutation in ADAMTS3. 61
30450763 2018
16
From fish embryos to human patients: lymphangiogenesis in development and disease. 61
29800868 2018
17
Protein Losing Enteropathy in Hennekam Syndrome. 61
29327272 2018
18
Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes. 61
29681106 2018
19
Hennekam Syndrome: A Case Report. 61
29560340 2018
20
Intestinal Lymphangiestasia With Hennekam Syndrome. 61
26863383 2017
21
Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3. 61
28985353 2017
22
Dachsous1-Fat4 Signaling Controls Endothelial Cell Polarization During Lymphatic Valve Morphogenesis-Brief Report. 61
28705793 2017
23
Neuron-specific knockdown of the Drosophila fat induces reduction of life span, deficient locomotive ability, shortening of motoneuron terminal branches and defects in axonal targeting. 61
28488382 2017
24
Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome. 61
27345729 2016
25
A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression. 61
26686525 2016
26
Functional Dissection of the CCBE1 Protein: A Crucial Requirement for the Collagen Repeat Domain. 61
25814692 2015
27
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature. 61
25925991 2015
28
A Rare Cause of Chylothorax: Hennekam Syndrome. 61
29404075 2015
29
[A complicated case study: Hennekam syndrome]. 61
25616299 2015
30
Hennekam syndrome: a rare cause of primary lymphedema. 61
25148287 2014
31
Variable clinical presentation in primary lymphoedema: report of two cases. 61
24619057 2014
32
Hennekam syndrome: a rare and often ignored cause of intestinal lymphangiectasia. 61
24870712 2014
33
CCBE1 enhances lymphangiogenesis via A disintegrin and metalloprotease with thrombospondin motifs-3-mediated vascular endothelial growth factor-C activation. 61
24552833 2014
34
Ccbe1 regulates Vegfc-mediated induction of Vegfr3 signaling during embryonic lymphangiogenesis. 61
24523457 2014
35
[Enigmatic lymphatic diseases involving the lung]. 61
23561737 2013
36
The secreted lymphangiogenic factor CCBE1 is essential for fetal liver erythropoiesis. 61
23426945 2013
37
Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations. 61
23653581 2013
38
[Hennekam syndrome: a case report and review of literature]. 61
23856108 2013
39
Octreotide in Hennekam syndrome-associated intestinal lymphangiectasia. 61
23180957 2012
40
CCBE1 is essential for mammalian lymphatic vascular development and enhances the lymphangiogenic effect of vascular endothelial growth factor-C in vivo. 61
21778431 2011
41
Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome? 61
20583147 2010
42
[A case of Hennekam syndrome presenting with massive pericardial effusion]. 61
18984984 2008
43
Congenital lymphoedema, bronchiectasis and seizure: case report. 61
18663889 2008
44
Congenital pulmonary lymphangiectasis sequence: a rare, heterogeneous, and lethal etiology for prenatal pleural effusion. 61
16941717 2006
45
Cutaneous manifestations and massive genital involvement in Hennekam syndrome. 61
16780470 2006
46
[Exudative enteropathy in congenital lymphedema-lymphangiectasia syndrome]. 61
16432772 2006
47
[Recurrent chylothorax -- a fifteen years long history]. 61
15300315 2004
48
Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia. 61
12794699 2003
49
Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review. 61
12376947 2002
50
Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: further case of Hennekam syndrome with a severe phenotype. 61
12124738 2002

Variations for Hennekam Syndrome

Expression for Hennekam Syndrome

Search GEO for disease gene expression data for Hennekam Syndrome.

Pathways for Hennekam Syndrome

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

# Super pathways Score Top Affiliating Genes
1 10.97 VEGFC PROX1 FLT4 EP300 CREBBP
2 10.86 VEGFC EP300 CREBBP
3
Show member pathways
10.36 VEGFC FLT4

GO Terms for Hennekam Syndrome

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 10.08 WWC2 SOX18 PROX1 FOXC2 EP300 CREBBP
2 positive regulation of transcription, DNA-templated GO:0045893 10.04 SOX18 PROX1 FOXC2 EP300 CREBBP
3 angiogenesis GO:0001525 9.8 VEGFC SOX18 FLT4 EPHB4 CCBE1
4 positive regulation of endothelial cell proliferation GO:0001938 9.77 VEGFC PROX1 FLT4
5 kidney development GO:0001822 9.76 PROX1 FOXC2 FAT4 DCHS1
6 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.75 VEGFC FOXC2 FLT4
7 Notch signaling pathway GO:0007219 9.73 FOXC2 FAT4 EP300 CREBBP
8 collagen fibril organization GO:0030199 9.71 FOXC2 ADAMTS3 ADAMTS2
9 sprouting angiogenesis GO:0002040 9.65 VEGFC FLT4 CCBE1
10 embryonic heart tube development GO:0035050 9.63 SOX18 FOXC2
11 positive regulation of transcription of Notch receptor target GO:0007221 9.63 EP300 CREBBP
12 vascular endothelial growth factor signaling pathway GO:0038084 9.62 VEGFC FLT4
13 protein acetylation GO:0006473 9.62 EP300 CREBBP
14 lung development GO:0030324 9.62 PROX1 EP300 CCBE1 ADAMTS2
15 respiratory system process GO:0003016 9.61 FLT4 CCBE1
16 nephron development GO:0072006 9.61 FAT4 DCHS1
17 ossification involved in bone maturation GO:0043931 9.58 FAT4 DCHS1
18 positive regulation of vascular endothelial growth factor signaling pathway GO:1900748 9.57 CCBE1 ADAMTS3
19 venous blood vessel morphogenesis GO:0048845 9.56 PROX1 CCBE1
20 positive regulation of endothelial cell migration GO:0010595 9.56 PROX1 FOXC2 FLT4 CCBE1
21 lymphatic endothelial cell differentiation GO:0060836 9.55 SOX18 PROX1
22 condensed mesenchymal cell proliferation GO:0072137 9.52 FAT4 DCHS1
23 endocardium formation GO:0060214 9.51 SOX18 PROX1
24 N-terminal peptidyl-lysine acetylation GO:0018076 9.49 EP300 CREBBP
25 heart morphogenesis GO:0003007 9.46 FOXC2 FAT4 EPHB4 DCHS1
26 positive regulation of lymphangiogenesis GO:1901492 9.37 VEGFC CCBE1
27 lymph vessel development GO:0001945 9.35 SOX18 PROX1 FOXC2 FLT4 CCBE1
28 lymphangiogenesis GO:0001946 9.02 SOX18 PROX1 FOXC2 FLT4 CCBE1

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

# Name GO ID Score Top Affiliating Genes
1 peptide-lysine-N-acetyltransferase activity GO:0061733 8.62 EP300 CREBBP

Sources for Hennekam Syndrome

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