MCID: HNN001
MIFTS: 28

Hennekam Syndrome malady

Neuronal, Cardiovascular, Skin, Fetal, Gastrointestinal, Immune categories

Summaries for Hennekam Syndrome

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Hennekam syndrome also known as Hennekam lymphangiectasia–lymphedema syndrome and intestinal... more...

MalaCards: Hennekam Syndrome, also known as hennekam lymphangiectasia lymphedema syndrome, is related to ausems wittebol-post hennekam syndrome and intestinal lymphangiectasia, and has symptoms including facial dysmorphism, flat face and hypertelorism. An important gene associated with Hennekam Syndrome is CCBE1 (collagen and calcium binding EGF domains 1). Affiliated tissues include kidney.

Description from OMIM:47 235510

Aliases & Classifications for Hennekam Syndrome

Sources:
43NIH Rare Diseases, 49Orphanet, 20GeneTests, 22GTR, 61UMLS, 47OMIM, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Cardiovascular, Skin, Gastrointestinal, Immune


Characteristics (Orphanet epidemiological data):

49
hennekam syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

hennekam syndrome 43 49
hennekam lymphangiectasia lymphedema syndrome 43 20 22 61
intestinal lymphagiectasia lymphedema intellectual deficit syndrome 43
lymphedema - lymphangiectasia - intellectual deficit 49
lymphangiectasies and lymphedema hennekam type 43
hennekam lymphangiectasia-lymphedema syndrome 47


External Ids:

OMIM47 235510
ICD10 via Orphanet26 Q87.8

Related Diseases for Hennekam Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Hennekam Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1ausems wittebol-post hennekam syndrome10.3
2intestinal lymphangiectasia10.3
3chylothorax, congenital10.0
4congenital pulmonary lymphangiectasia10.0
5hydrops fetalis10.0
6mass syndrome10.0
7cleft lip - retinopathy10.0

Graphical network of diseases related to Hennekam Syndrome:



Diseases related to hennekam syndrome

Clinical Features for Hennekam Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

235510

Clinical synopsis from OMIM:

235510

Symptoms:

49 (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

Drugs & Therapeutics for Hennekam Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Hennekam Syndrome

Drug clinical trials:

Search ClinicalTrials for Hennekam Syndrome

Search NIH Clinical Center for Hennekam Syndrome

Search CenterWatch for Hennekam Syndrome

Genetic Tests for Hennekam Syndrome

Sources:
20GeneTests, 22GTR
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Genetic tests related to Hennekam Syndrome:

id Genetic test Affiliating Genes
1 Hennekam Lymphangiectasia-lymphedema Syndrome20 22 CCBE1

Anatomical Context for Hennekam Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Hennekam Syndrome:

33
Kidney

Animal Models for Hennekam Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Hennekam Syndrome

Sources:
51PubMed
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Articles related to Hennekam Syndrome:

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

Genetic Variations for Hennekam Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Hennekam Syndrome:

63
id Symbol AA change Variation SNP ID
1CCBE1p.Cys75SerVAR_063746rs121908250
2CCBE1p.Cys102SerVAR_063747rs121908251
3CCBE1p.Arg158CysVAR_063748rs121908253
4CCBE1p.Cys174ArgVAR_063749rs121908254
5CCBE1p.Gly327ArgVAR_063750rs121908252

Expression for genes affiliated with Hennekam Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hennekam Syndrome

Search GEO for disease gene expression data for Hennekam Syndrome.

Pathways for genes affiliated with Hennekam Syndrome

Compounds for genes affiliated with Hennekam Syndrome

GO Terms for genes affiliated with Hennekam Syndrome

Products for genes affiliated with Hennekam Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hennekam Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet