MCID: HNN001
MIFTS: 35

Hennekam Syndrome malady

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

Summaries for Hennekam Syndrome

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 lymphedema, and has symptoms including camptodactyly of fingers, syndactyly of fingers/interdigital palm and conductive deafness/hearing loss. An important gene associated with Hennekam Syndrome is CCBE1 (collagen and calcium binding EGF domains 1). Affiliated tissues include tongue, brain and kidney.

Description from OMIM:46 235510

Aliases & Classifications for Hennekam Syndrome

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Sources:
42NIH Rare Diseases, 48Orphanet, 20GeneTests, 22GTR, 60UMLS, 46OMIM, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
hennekam syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

hennekam syndrome 42 48
hennekam lymphangiectasia lymphedema syndrome 42 20 22 60
intestinal lymphagiectasia lymphedema intellectual deficit syndrome 42
lymphedema - lymphangiectasia - intellectual deficit 48
lymphangiectasies and lymphedema hennekam type 42
hennekam lymphangiectasia-lymphedema syndrome 46


External Ids:

SNOMED-CT via Orphanet57 234146006
OMIM46 235510
ICD10 via Orphanet26 Q87.8

Related Diseases for Hennekam Syndrome

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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
2lymphedema10.3
3craniosynostosis10.0
4cleft lip - retinopathy10.0

Clinical Features for Hennekam Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

235510

Clinical synopsis from OMIM:

235510

Symptoms:

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

Drugs & Therapeutics for Hennekam Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Hennekam Syndrome

Search CenterWatch for Hennekam Syndrome

Genetic Tests for Hennekam Syndrome

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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

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32MalaCards
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MalaCards organs/tissues related to Hennekam Syndrome:

32
Tongue, Brain, Kidney, Lung, Skin, B cells

Animal Models for Hennekam Syndrome or affiliated genes

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Publications for Hennekam Syndrome

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Genetic Variations for Hennekam Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Hennekam Syndrome:

62
id Symbol AA change Variation ID SNP ID
1CCBE1p.Cys75SerVAR_063746rs121908250
2CCBE1p.Cys102SerVAR_063747rs121908251
3CCBE1p.Arg158CysVAR_063748rs121908253
4CCBE1p.Cys174ArgVAR_063749rs121908254
5CCBE1p.Gly327ArgVAR_063750rs121908252

Expression for genes affiliated with Hennekam Syndrome

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

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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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Products for genes affiliated with Hennekam Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hennekam Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet