MCID: HNN001
MIFTS: 41

Hennekam Syndrome malady

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

Aliases & Classifications for Hennekam Syndrome

Aliases & Descriptions for Hennekam Syndrome:

Name: Hennekam Syndrome 12 50 25 56 14
Hennekam Lymphangiectasia-Lymphedema Syndrome 12 24 25 13
Hennekam Lymphangiectasia Lymphedema Syndrome 50 29 42 69
Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome 25 56
Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome 50
Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome 25
Lymphedem-Lymphangiectasia-Intellectual Disability Syndrome 12
Lymphangiectasies and Lymphedema Hennekam Type 50
Generalized Lymphatic Dysplasia 25

Characteristics:

Orphanet epidemiological data:

56
hennekam syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060366
MeSH 42 C537255
SNOMED-CT 64 234146006
Orphanet 56 ORPHA2136
UMLS via Orphanet 70 C0340834
ICD10 via Orphanet 34 Q87.8
UMLS 69 C0340834

Summaries for Hennekam Syndrome

NIH Rare Diseases : 50 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. 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 Phospholipase-C Pathway. Affiliated tissues include skin, eye and kidney, and related phenotypes are digestive/alimentary and immune system

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.

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.

Wikipedia : 71 Hennekam syndrome also known as intestinal lymphagiectasia–lymphedema–mental retardation syndrome,... more...

Related Diseases for Hennekam Syndrome

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

(show all 35)
id Related Disease Score Top Affiliating Genes
1 hennekam lymphangiectasia-lymphedema syndrome 2 12.7
2 ausems wittebol-post hennekam syndrome 11.8
3 cleft lip-retinopathy syndrome 10.9
4 hennekam lymphangiectasia-lymphedema syndrome 1 10.7
5 congenital myasthenic syndrome associated with acetylcholine receptor deficiency 10.2 FLT4 VEGFC
6 celiac disease 5 10.2 ALB CCBE1
7 lysteria monocytoigeneses meningitis 10.2 FLT4 PROX1
8 hypomelanosis of ito 10.2 FLT4 PROX1
9 pilomyxoid astrocytoma 10.2 FLT4 PROX1
10 keratosis follicularis spinulosa decalvans 10.1 FLT4 PROX1
11 trichodysplasia-xeroderma 10.1 ALB FLT4
12 cycloplegia 10.1 FLT4 PROX1
13 lumbar spinal canal and spinal cord meningioma 10.1 CCBE1 FLT4 VEGFC
14 lymphedema 10.1
15 oculodentodigital dysplasia 10.1 FLT4 PROX1 VEGFC
16 renal adenoma 10.1 FLT4 PROX1 VEGFC
17 benign familial neonatal epilepsy 10.1 FLT4 PROX1 VEGFC
18 peripheral vascular disease 10.0 ALB EGF
19 idiopathic peripheral autonomic neuropathy 10.0 ALB SERPINA1
20 porencephaly, cerebellar hypoplasia, and internal malformations 9.9 ALB SERPINA1
21 lymphoma, large-cell, immunoblastic 9.9 CCBE1 FLT4 PROX1 VEGFC
22 bile duct cystadenocarcinoma 9.9 ALB SERPINA1
23 central cervical cord syndrome 9.9 FLT4 PROX1
24 acute cervicitis 9.9 ALB SERPINA1
25 klinefelter's syndrome 9.9 ALB SERPINA1
26 hemolytic-uremic syndrome 9.9 ALB SERPINA1
27 stuttering 9.9 CCBE1 CDH17 EGF FAT4
28 kidney rhabdoid cancer 9.8 KITLG SERPINA1
29 vulvar sarcoma 9.8 ALB SERPINA1
30 craniosynostosis 9.8
31 van maldergem syndrome 9.8
32 cerebritis 9.8
33 hydrops fetalis 9.8
34 chromosome 18 pericentric inversion 8.9 ALB CCBE1 EGF FAT4 FLT4 KITLG
35 acrofacial dysostosis, patagonia type 8.7 ALB CCBE1 CDH17 EGF FAT4 FLT4

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



Diseases related to Hennekam Syndrome

Symptoms & Phenotypes for Hennekam Syndrome

MGI Mouse Phenotypes related to Hennekam Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.63 ALB EGF FAT4 FLT4 KITLG PROX1
2 immune system MP:0005387 9.5 CCBE1 CDH17 EGF FLT4 KITLG PROX1
3 liver/biliary system MP:0005370 9.02 ALB CCBE1 FLT4 KITLG PROX1

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

Genetic tests related to Hennekam Syndrome:

id Genetic test Affiliating Genes
1 Hennekam Lymphangiectasia-Lymphedema Syndrome 29 24 CCBE1

Anatomical Context for Hennekam Syndrome

MalaCards organs/tissues related to Hennekam Syndrome:

39
Skin, Eye, Kidney

Publications for Hennekam Syndrome

Articles related to Hennekam Syndrome:

(show all 20)
id Title Authors Year
1
Intestinal Lymphangiestasia with Hennekam Syndrome. ( 26863383 )
2016
2
A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression. ( 26686525 )
2016
3
Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome. ( 27345729 )
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: a rare cause of primary lymphedema. ( 25148287 )
2014
6
Hennekam syndrome: a rare and often ignored cause of intestinal lymphangiectasia. ( 24870712 )
2014
7
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. ( 24913602 )
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

ClinVar genetic disease variations for Hennekam Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CCBE1 NM_133459.3(CCBE1): c.223T> A (p.Cys75Ser) single nucleotide variant Pathogenic rs121908250 GRCh37 Chromosome 18, 57147460: 57147460
2 CCBE1 NM_133459.3(CCBE1): c.305G> C (p.Cys102Ser) single nucleotide variant Pathogenic rs121908251 GRCh37 Chromosome 18, 57136800: 57136800
3 CCBE1 NM_133459.3(CCBE1): c.979G> C (p.Gly327Arg) single nucleotide variant Pathogenic rs121908252 GRCh37 Chromosome 18, 57105351: 57105351
4 CCBE1 NM_133459.3(CCBE1): c.683_684insT (p.Leu229Profs) insertion Pathogenic rs563023244 GRCh38 Chromosome 18, 59448074: 59448075
5 CCBE1 NM_133459.3(CCBE1): c.472C> T (p.Arg158Cys) single nucleotide variant Pathogenic rs121908253 GRCh37 Chromosome 18, 57134052: 57134052
6 CCBE1 NM_133459.3(CCBE1): c.520T> C (p.Cys174Arg) single nucleotide variant Pathogenic rs121908254 GRCh37 Chromosome 18, 57134004: 57134004

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:

(show all 14)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.9 CDH17 EGF FLT4 KITLG VEGFC
2
Show member pathways
12.73 EGF FLT4 KITLG VEGFC
3
Show member pathways
12.71 EGF FLT4 KITLG VEGFC
4
Show member pathways
12.35 EGF FLT4 KITLG VEGFC
5
Show member pathways
12.24 EGF FLT4 KITLG VEGFC
6 12.09 EGF FLT4 KITLG VEGFC
7
Show member pathways
12.05 EGF FLT4 VEGFC
8
Show member pathways
12.03 EGF FLT4 VEGFC
9 11.41 EGF FLT4 KITLG VEGFC
10 11.27 FLT4 PROX1 VEGFC
11 11.19 EGF KITLG
12 11.15 ALB EGF KITLG PROX1 SERPINA1
13 10.79 FLT4 VEGFC
14
Show member pathways
10.57 FLT4 VEGFC

GO Terms for Hennekam Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.63 ALB CCBE1 EGF KITLG SERPINA1 VEGFC
2 extracellular region GO:0005576 9.5 ALB CCBE1 EGF FLT4 KITLG SERPINA1
3 platelet alpha granule lumen GO:0031093 8.92 ALB EGF SERPINA1 VEGFC

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.77 EGF FLT4 KITLG PROX1 VEGFC
2 angiogenesis GO:0001525 9.71 EGF FLT4 VEGFC
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.65 EGF KITLG VEGFC
4 positive regulation of endothelial cell proliferation GO:0001938 9.58 FLT4 PROX1 VEGFC
5 respiratory gaseous exchange GO:0007585 9.55 CCBE1 FLT4
6 positive regulation of vascular endothelial growth factor production GO:0010575 9.52 CCBE1 FLT4
7 sprouting angiogenesis GO:0002040 9.51 CCBE1 FLT4
8 positive regulation of endothelial cell migration GO:0010595 9.5 CCBE1 FLT4 PROX1
9 respiratory system process GO:0003016 9.49 CCBE1 FLT4
10 embryonic retina morphogenesis in camera-type eye GO:0060059 9.46 EGF PROX1
11 platelet degranulation GO:0002576 9.46 ALB EGF SERPINA1 VEGFC
12 venous blood vessel morphogenesis GO:0048845 9.43 CCBE1 PROX1
13 positive regulation of lymphangiogenesis GO:1901492 9.26 CCBE1 VEGFC
14 lymph vessel development GO:0001945 9.13 CCBE1 FLT4 PROX1
15 lymphangiogenesis GO:0001946 8.8 CCBE1 FLT4 PROX1

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

id Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.26 CCBE1 CDH17 EGF FAT4
2 growth factor activity GO:0008083 8.8 EGF KITLG VEGFC

Sources for Hennekam Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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