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:
23Genetics Home Reference, 45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Hennekam Syndrome:

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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Orphanet51 2136
ICD10 via Orphanet28 Q87.8
UMLS via Orphanet66 C0340834

Summaries for Hennekam Syndrome

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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.

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 FAT4 (FAT Atypical Cadherin 4). Affiliated tissues include kidney, tongue and b cells.

Wikipedia:68 Hennekam syndrome also known as Hennekam lymphangiectasia–lymphedema syndrome and intestinal... more...

Related Diseases for Hennekam Syndrome

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Graphical network of 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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Anatomical Context for Hennekam Syndrome

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MalaCards organs/tissues related to Hennekam Syndrome:

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

Animal Models for Hennekam Syndrome or affiliated genes

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Publications for Hennekam Syndrome

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Articles related to Hennekam Syndrome:

(show all 17)
idTitleAuthorsYear
1
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature. (25925991)
2015
2
Hennekam syndrome: a rare and often ignored cause of intestinal lymphangiectasia. (24870712)
2014
3
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. (24913602)
2014
4
Hennekam syndrome: a rare cause of primary lymphedema. (25148287)
2014
5
Octreotide in Hennekam syndrome-associated intestinal lymphangiectasia. (23180957)
2012
6
Cutaneous manifestations and massive genital involvement in Hennekam syndrome. (16780470)
2006
7
Further delineation of Hennekam syndrome. (14564208)
2003
8
Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia. (12794699)
2003
9
Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review. (12376947)
2002
10
Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: further case of Hennekam syndrome with a severe phenotype. (12124738)
2002
11
Early death in two sisters with Hennekam syndrome. (10925377)
2000
12
Two brothers with Hennekam syndrome and cerebral abnormalities. (10649792)
2000
13
Lymphoscintigraphic manifestations of Hennekam syndrome--a case report. (10609768)
1999
14
Expansion of the phenotype in Hennekam syndrome: a case with new manifestations. (9217224)
1997
15
Craniosynostosis and kidney malformation in a case of Hennekam syndrome. (7645602)
1995
16
Protein-losing gastroenteropathy with facial anomaly and growth retardation: a mild case of Hennekam syndrome. (8465855)
1993
17
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:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1FAT4NM_024582.4(FAT4): c.7041_7046dupTGGAAC (p.Thr2349_Ile2350insGlyThr)duplicationPathogenicrs587777724GRCh37Chr 4, 126355422: 126355427
2FAT4NM_024582.4(FAT4): c.1195delC (p.Leu399Serfs)deletionPathogenicrs587777725GRCh37Chr 4, 126238761: 126238761
3FAT4NM_001291303.1(FAT4): c.12851C> T (p.Ser4284Phe)single nucleotide variantPathogenicrs199682210GRCh38Chr 4, 125487373: 125487373
4FAT4NM_001291303.1(FAT4): c.7204A> C (p.Arg2402=)single nucleotide variantPathogenicrs587777726GRCh38Chr 4, 125446297: 125446297
5CCBE1NM_133459.3(CCBE1): c.223T> A (p.Cys75Ser)single nucleotide variantPathogenicrs121908250GRCh37Chr 18, 57147460: 57147460
6CCBE1NM_133459.3(CCBE1): c.305G> C (p.Cys102Ser)single nucleotide variantPathogenicrs121908251GRCh37Chr 18, 57136800: 57136800
7CCBE1NM_133459.3(CCBE1): c.979G> C (p.Gly327Arg)single nucleotide variantPathogenicrs121908252GRCh37Chr 18, 57105351: 57105351
8CCBE1NM_133459.3(CCBE1): c.683_684insT (p.Leu229Profs)insertionPathogenicrs563023244GRCh38Chr 18, 59448074: 59448075
9CCBE1NM_133459.3(CCBE1): c.472C> T (p.Arg158Cys)single nucleotide variantPathogenicrs121908253GRCh37Chr 18, 57134052: 57134052
10CCBE1NM_133459.3(CCBE1): c.520T> C (p.Cys174Arg)single nucleotide variantPathogenicrs121908254GRCh37Chr 18, 57134004: 57134004
11FAT4NM_024582.4(FAT4): c.7123G> A (p.Glu2375Lys)single nucleotide variantPathogenicrs398122955GRCh37Chr 4, 126355504: 126355504

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

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

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