MCID: HNN001
MIFTS: 39

Hennekam Syndrome malady

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

Summaries for Hennekam Syndrome

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 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 supernumerary teeth/polyodontia, lymphopenia and external ear anomalies. An important gene associated with Hennekam Syndrome is CCBE1 (collagen and calcium binding EGF domains 1). Affiliated tissues include kidney, b cells and skin.

Description from OMIM:48 235510

Aliases & Classifications for Hennekam Syndrome

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Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 50Orphanet, 63UMLS, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
hennekam syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

hennekam syndrome 44 22 50
hennekam lymphangiectasia lymphedema syndrome 44 21 23 63
hennekam lymphangiectasia-lymphedema syndrome 22 48
intestinal lymphagiectasia lymphedema intellectual deficit syndrome 44
intestinal lymphagiectasia-lymphedema-mental retardation syndrome 22
lymphedema-lymphangiectasia-intellectual disability syndrome 22
lymphedema - lymphangiectasia - intellectual disability 50
lymphangiectasies and lymphedema hennekam type 44
generalized lymphatic dysplasia 22


External Ids:

SNOMED-CT via Orphanet60 234146006
OMIM48 235510
ICD10 via Orphanet27 Q87.8
UMLS via Orphanet64 C0340834

Related Diseases for Hennekam Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Hennekam Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1ausems wittebol-post hennekam syndrome10.4
2lymphedema10.3
3mental retardation10.3
4intestinal lymphangiectasia10.3
5chylous ascites10.1
6non-immune hydrops fetalis10.1
7immune hydrops fetalis10.1
8cerebritis10.1
9craniosynostosis10.1
10congenital pulmonary lymphangiectasia10.1
11hydrops fetalis10.1
12cleft lip - retinopathy10.1

Graphical network of diseases related to Hennekam Syndrome:



Diseases related to hennekam syndrome

Symptoms for Hennekam Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

235510

Clinical features from OMIM:

235510

Symptoms:

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

Drugs & Therapeutics for Hennekam Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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21GeneTests, 23GTR
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Genetic tests related to Hennekam Syndrome:

id Genetic test Affiliating Genes
1 Hennekam Lymphangiectasia-Lymphedema Syndrome21 23 CCBE1

Anatomical Context for Hennekam Syndrome

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34MalaCards
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MalaCards organs/tissues related to Hennekam Syndrome:

34
Kidney, B cells, Skin, Brain, Tongue, Lung

Animal Models for Hennekam Syndrome or affiliated genes

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Publications for Hennekam Syndrome

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53PubMed
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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

Variations for Hennekam Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Hennekam Syndrome:

65
id Symbol AA change Variation ID SNP ID
1CCBE1p.Cys75SerVAR_063746rs121908250
2CCBE1p.Cys102SerVAR_063747rs121908251
3CCBE1p.Arg158CysVAR_063748rs121908253
4CCBE1p.Cys174ArgVAR_063749rs121908254
5CCBE1p.Gly327ArgVAR_063750rs121908252

Clinvar genetic disease variations for Hennekam Syndrome:

1
id Gene Name 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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2BioGPS, 16Gene 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet