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:
10Disease Ontology, 45NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 11diseasecard, 22GeneTests, 24GTR, 65UMLS, 27ICD10, 36MeSH, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Hennekam Syndrome:

Name: Hennekam Syndrome 10 45 23 12 51
Hennekam Lymphangiectasia-Lymphedema Syndrome 10 11 22 23
Hennekam Lymphangiectasia Lymphedema Syndrome 45 24 65
Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome 23 51
Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome 45
 
Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome 23
Lymphedem-Lymphangiectasia-Intellectual Disability Syndrome 10
Lymphangiectasies and Lymphedema Hennekam Type 45
Generalized Lymphatic Dysplasia 23

Characteristics:

Orphanet epidemiological data:

51
hennekam syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

Classifications:



External Ids:

Disease Ontology10 DOID:0060366
ICD1027 Q87.8
MeSH36 C537255
Orphanet51 2136
ICD10 via Orphanet28 Q87.8
UMLS via Orphanet66 C0340834
UMLS65 C0340834

Summaries for Hennekam Syndrome

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NIH Rare Diseases:45 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 Vemurafenib Pathway, Pharmacodynamics and VEGFR3 signaling in lymphatic endothelium. Affiliated tissues include skin, eye and kidney, and related mouse phenotypes are liver/biliary system and digestive/alimentary.

Disease Ontology:10 A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It in 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:23 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:68 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 213.1
2ausems wittebol-post hennekam syndrome12.3
3cleft lip-retinopathy syndrome11.4
4hennekam lymphangiectasia-lymphedema syndrome 111.3
5uv-sensitive syndrome10.3CCBE1, FAT4
6lipoma10.3
7thromboangiitis obliterans10.3
8congenital hypothyroidism10.3
9low tension glaucoma10.3
10hypothyroidism10.3
11liposarcoma10.3
12hypertensive encephalopathy10.3
13accessory navicular bone10.3
14rat bite fever10.3
15encephalopathy10.3
16tufted hair folliculitis10.2FLT4, PROX1
17hemangioma thrombocytopenia syndrome10.2FLT4, PROX1
18compensatory emphysema10.2FLT4, PROX1
19seminal vesicle acute gonorrhea10.1FLT4, PROX1
20congenital megalo-ureter10.1FLT4, VEGFC
21congenital methemoglobinemia10.1ALB, EGF
22hematologic cancer9.9FLT4, PROX1
23hemopericardium9.9ALB, SERPINA1
24peritoneal serous papillary adenocarcinoma9.9ALB, SERPINA1
25allergic urticaria9.9ALB, SERPINA1
26diphtheria9.9EGF, SERPINA1
27vulvar melanoma9.8ALB, SERPINA1
28adult endodermal sinus tumor9.8ALB, SERPINA1
29autosomal recessive type iv ehlers-danlos syndrome9.8FLT4, PROX1, VEGFC
30myoma9.8FLT4, PROX1, VEGFC
31pyomyositis9.8ALB, SERPINA1
32frontotemporal dementia and/or amyotrophic lateral sclerosis 49.8EGF, VEGFC
33diffuse scleroderma9.8ALB, SERPINA1
34optic nerve disease9.7ALB, SERPINA1
3515q13.3 microduplication syndrome9.7ALB, CCBE1, FAT4, FLT4
36uterine corpus epithelioid leiomyosarcoma9.7ALB, SERPINA1
37esophageal cancer9.6ALB, EGF, VEGFC
38rectum signet ring adenocarcinoma9.5ALB, SERPINA1
39lymphoblastic lymphoma9.4CCBE1, FAT4, FLT4, PROX1, VEGFC
40orofaciodigital syndrome iii8.2ALB, CCBE1, EGF, FAT4, FLT4, PROX1

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



Diseases related to hennekam syndrome

Symptoms for Hennekam Syndrome

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Symptoms:

 51 (show all 52)
  • facial dysmorphism
  • flat face
  • hypertelorism
  • broad nose/nasal bridge
  • depressed nasal bridge
  • tooth shape anomaly
  • supernumerary teeth/polyodontia
  • anodontia/oligodontia/hypodontia
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • external ear anomalies
  • low set ears/posteriorly rotated ears
  • malabsorption/chronic diarrhea/steatorrhea
  • lymphangioma/lymphatic malformations
  • lymphedema
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • agammaglobulinemia/hypogammaglobulinemia/b-cell deficiency
  • lymphopenia
  • autosomal recessive inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • broad forehead
  • epicanthic folds
  • anomalies of tongue, gingiva and oral mucosa
  • thickened/hypertrophic/fibromatous gingivae
  • narrow rib cage/thorax
  • erysipela
  • ascitis
  • splenomegaly
  • repeat respiratory infections
  • lymphadenopathy/polyadenopathies
  • late puberty/hypogonadism/hypogenitalism
  • seizures/epilepsy/absences/spasms/status epilepticus
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • craniostenosis/craniosynostosis/sutural synostosis
  • micrognathia/retrognathia/micrognathism/retrognathism
  • glaucoma
  • microstomia/little mouth
  • short philtrum
  • conductive deafness/hearing loss
  • syndactyly of fingers/interdigital palm
  • camptodactyly of fingers
  • foot anomalies
  • gastric/pyloric stenosis
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • arteriovenous malformations/vascular malformations (excluding port-wine stains)
  • ectopic/horseshoe/fused kidneys
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • hypocalcemia
  • benign tumor of the brain/nervous system
  • early death/lethality
  • hydrops fetalis

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

Genetic Tests for Hennekam Syndrome

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Genetic tests related to Hennekam Syndrome:

id Genetic test Affiliating Genes
1 Hennekam Lymphangiectasia-Lymphedema Syndrome22 CCBE1

Anatomical Context for Hennekam Syndrome

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MalaCards organs/tissues related to Hennekam Syndrome:

33
Skin, Eye, Kidney, Brain, Lung, Tongue, B cells

Animal Models for Hennekam Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Hennekam Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.8ALB, CCBE1, FLT4, PROX1
2MP:00053818.2ALB, EGF, FAT4, FLT4, PROX1
3MP:00028737.9ALB, CCBE1, EGF, FLT4, PROX1

Publications for Hennekam Syndrome

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Articles related to Hennekam Syndrome:

(show all 17)
idTitleAuthorsYear
1
Fever-induced recurrent rhabdomyolysis due to a novel mutation in the ryanodine receptor type 1 gene. (25081049)
2014
2
The prevalence of post-traumatic stress disorder in patients with burn injuries and their quality of life. (25363198)
2014
3
High expression of miR-21 in triple-negative breast cancers was correlated with a poor prognosis and promoted tumor cell in vitro proliferation. (24930006)
2014
4
Protein kinase D2 and heat shock protein 90 beta are required for BCL6-associated zinc finger protein mRNA stabilization induced by vascular endothelial growth factor-A. (23515950)
2013
5
Eosinophilic endocarditis and Strongyloides stercoralis. (23672985)
2013
6
The effect of decreasing the dosage of cyclosporine A 0.05% on dry eye disease after 1 year of twice-daily therapy. (21407074)
2011
7
The missing medullary sponge kidney. (19644481)
2009
8
Polysomnography and self-reported sleep, pain, fatigue, and anxiety in children with active and inactive juvenile rheumatoid arthritis. (18073234)
2008
9
Increased atypical PKC activity in endurance-trained human skeletal muscle. (14651992)
2003
10
Treatment of hemophilia B in mice with nonautologous somatic gene therapeutics. (11873243)
2002
11
A new genetic isolate of gray platelet syndrome (GPS): clinical, cellular, and hematologic characteristics. (11708859)
2001
12
COX-2 is expressed in human pulmonary, colonic, and mammary tumors. (11135226)
2000
13
Role of botulinum toxin A in surgically overcorrected exotropia. (10532570)
1999
14
Selection of quarter horses affected with hyperkalemic periodic paralysis by show judges. (8188514)
1994
15
Biochemical and cytochemical studies of preadipocyte differentiation in serum-free culture of porcine stromal-vascular cells: interaction of dexamethasone and growth hormone. (1502874)
1992
16
Duodenal obstruction in advanced pancreatic carcinoma: how effective is gastroenterostomy in palliation? (1704358)
1990
17
Treatment of eyelid carcinoma. (9626089)
1965

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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GO Terms for genes affiliated with Hennekam Syndrome

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of vascular endothelial growth factor productionGO:001057510.1CCBE1, FLT4
2lymph vessel developmentGO:00019459.9FLT4, PROX1
3kidney developmentGO:00018229.9FAT4, PROX1
4peptidyl-tyrosine phosphorylationGO:00181089.8EGF, FLT4
5venous blood vessel morphogenesisGO:00488459.7CCBE1, PROX1
6platelet degranulationGO:00025769.4EGF, VEGFC
7vascular endothelial growth factor receptor signaling pathwayGO:00480108.9EGF, FLT4, VEGFC
8blood coagulationGO:00075968.4EGF, SERPINA1, VEGFC

Sources for Hennekam Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet