MCID: HNN001
MIFTS: 33

Hennekam Syndrome malady

Rare diseases, Neuronal diseases, Cardiovascular diseases, Skin diseases, Fetal diseases categories

Aliases & Classifications for Hennekam Syndrome

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Sources:
21Genetics Home Reference, 41NIH Rare Diseases, 47Orphanet, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Hennekam Syndrome, Aliases & Descriptions:

Name: Hennekam Syndrome 41 21 47
Lymphedema - Lymphangiectasia - Intellectual Disability 41 47
Hennekam Lymphangiectasia Lymphedema Syndrome 41 60
Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome 41
Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome 21
 
Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome 21
Lymphangiectasies and Lymphedema Hennekam Type 41
Hennekam Lymphangiectasia-Lymphedema Syndrome 21
Generalized Lymphatic Dysplasia 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
hennekam syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

Orphanet47 2136
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C0340834

Summaries for Hennekam Syndrome

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Genetics Home Reference:21 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.

MalaCards based summary: Hennekam Syndrome, also known as lymphedema - lymphangiectasia - intellectual disability, is related to hennekam lymphangiectasia-lymphedema syndrome 1 and hennekam lymphangiectasia-lymphedema syndrome 2, 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). Affiliated tissues include kidney, brain and lung, and related mouse phenotype cellular.

Wikipedia:63 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 13)
idRelated DiseaseScoreTop Affiliating Genes
1hennekam lymphangiectasia-lymphedema syndrome 110.9
2hennekam lymphangiectasia-lymphedema syndrome 210.8
3ausems wittebol-post hennekam syndrome10.6
4lymphedema10.4
5mental retardation10.3
6chylous ascites10.1
7non-immune hydrops fetalis10.1
8immune hydrops fetalis10.1
9craniosynostosis10.1
10cerebritis10.1
11van maldergem syndrome10.1
12congenital pulmonary lymphangiectasia10.1
13hydrops fetalis10.1

Graphical network of diseases related to Hennekam Syndrome:



Diseases related to hennekam syndrome

Symptoms for Hennekam Syndrome

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Symptoms:

 47 (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 45)
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 malabsorption hallmark (90%) HP:0002024
8 hypogammaglobulinemia hallmark (90%) HP:0004313
9 depressed nasal bridge hallmark (90%) HP:0005280
10 abnormality of dental morphology hallmark (90%) HP:0006482
11 external ear malformation hallmark (90%) HP:0008572
12 reduced number of teeth hallmark (90%) HP:0009804
13 increased number of teeth hallmark (90%) HP:0011069
14 cognitive impairment hallmark (90%) HP:0100543
15 lymphangioma hallmark (90%) HP:0100764
16 abnormality of the genital system typical (50%) HP:0000078
17 gingival overgrowth typical (50%) HP:0000212
18 epicanthus typical (50%) HP:0000286
19 broad forehead typical (50%) HP:0000337
20 narrow chest typical (50%) HP:0000774
21 erysipelas typical (50%) HP:0001055
22 seizures typical (50%) HP:0001250
23 ascites typical (50%) HP:0001541
24 splenomegaly typical (50%) HP:0001744
25 recurrent respiratory infections typical (50%) HP:0002205
26 lymphadenopathy typical (50%) HP:0002716
27 narrow mouth occasional (7.5%) HP:0000160
28 short philtrum occasional (7.5%) HP:0000322
29 micrognathia occasional (7.5%) HP:0000347
30 conductive hearing impairment occasional (7.5%) HP:0000405
31 glaucoma occasional (7.5%) HP:0000501
32 craniosynostosis occasional (7.5%) HP:0001363
33 abnormality of the pericardium occasional (7.5%) HP:0001697
34 abnormality of the foot occasional (7.5%) HP:0001760
35 hydrops fetalis occasional (7.5%) HP:0001789
36 pyloric stenosis occasional (7.5%) HP:0002021
37 respiratory insufficiency occasional (7.5%) HP:0002093
38 abnormality of the pleura occasional (7.5%) HP:0002103
39 abnormality of neuronal migration occasional (7.5%) HP:0002269
40 hypocalcemia occasional (7.5%) HP:0002901
41 finger syndactyly occasional (7.5%) HP:0006101
42 arteriovenous malformation occasional (7.5%) HP:0100026
43 camptodactyly of finger occasional (7.5%) HP:0100490
44 abnormal localization of kidney occasional (7.5%) HP:0100542
45 benign neoplasm of the central nervous system occasional (7.5%) HP:0100835

Drugs & Therapeutics for Hennekam Syndrome

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Drug clinical trials:

Search ClinicalTrials for Hennekam Syndrome

Search NIH Clinical Center for Hennekam Syndrome

Genetic Tests for Hennekam Syndrome

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Anatomical Context for Hennekam Syndrome

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MalaCards organs/tissues related to Hennekam Syndrome:

31
Kidney, Brain, Lung, Skin, B cells, Tongue

Animal Models for Hennekam Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Hennekam Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053849.1CCBE1, FAT4

Publications for Hennekam Syndrome

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Articles related to Hennekam Syndrome:

(show all 16)
idTitleAuthorsYear
1
Hennekam syndrome: a rare and often ignored cause of intestinal lymphangiectasia. (24870712)
2014
2
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. (24913602)
2014
3
Hennekam syndrome: a rare cause of primary lymphedema. (25148287)
2014
4
Octreotide in Hennekam syndrome-associated intestinal lymphangiectasia. (23180957)
2012
5
Cutaneous manifestations and massive genital involvement in Hennekam syndrome. (16780470)
2006
6
Further delineation of Hennekam syndrome. (14564208)
2003
7
Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia. (12794699)
2003
8
Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review. (12376947)
2002
9
Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: further case of Hennekam syndrome with a severe phenotype. (12124738)
2002
10
Early death in two sisters with Hennekam syndrome. (10925377)
2000
11
Two brothers with Hennekam syndrome and cerebral abnormalities. (10649792)
2000
12
Lymphoscintigraphic manifestations of Hennekam syndrome--a case report. (10609768)
1999
13
Expansion of the phenotype in Hennekam syndrome: a case with new manifestations. (9217224)
1997
14
Craniosynostosis and kidney malformation in a case of Hennekam syndrome. (7645602)
1995
15
Protein-losing gastroenteropathy with facial anomaly and growth retardation: a mild case of Hennekam syndrome. (8465855)
1993
16
Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face: confirmation of the Hennekam syndrome. (1897580)
1991

Variations for Hennekam Syndrome

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Clinvar genetic disease variations for Hennekam Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1CCBE1NM_133459.3(CCBE1): c.223T> A (p.Cys75Ser)single nucleotide variantPathogenicrs121908250GRCh37Chr 18, 57147460: 57147460
2CCBE1NM_133459.3(CCBE1): c.305G> C (p.Cys102Ser)single nucleotide variantPathogenicrs121908251GRCh37Chr 18, 57136800: 57136800
3CCBE1NM_133459.3(CCBE1): c.979G> C (p.Gly327Arg)single nucleotide variantPathogenicrs121908252GRCh37Chr 18, 57105351: 57105351
4CCBE1CCBE1, 1-BP INS, 683TinsertionPathogenic
5CCBE1NM_133459.3(CCBE1): c.472C> T (p.Arg158Cys)single nucleotide variantPathogenicrs121908253GRCh37Chr 18, 57134052: 57134052
6CCBE1NM_133459.3(CCBE1): c.520T> C (p.Cys174Arg)single nucleotide variantPathogenicrs121908254GRCh37Chr 18, 57134004: 57134004

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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Compounds for genes affiliated with Hennekam Syndrome

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GO Terms for genes affiliated with Hennekam Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:00055099.1CCBE1, FAT4

Products for genes affiliated with Hennekam Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hennekam Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet