MCID: HNN005
MIFTS: 45

Hennekam Lymphangiectasia-Lymphedema Syndrome 1 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Skin diseases, Fetal diseases, Blood diseases, Immune diseases

Aliases & Classifications for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

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Aliases & Descriptions for Hennekam Lymphangiectasia-Lymphedema Syndrome 1:

Name: Hennekam Lymphangiectasia-Lymphedema Syndrome 1 51 69 67
Hennekam Syndrome 11 47 25 53 69 13
Hennekam Lymphangiectasia-Lymphedema Syndrome 11 24 25 12
Hennekam Lymphangiectasia Lymphedema Syndrome 47 26 38 67
Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome 25 53
Generalized Lymphatic Dysplasia 25 69
Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome 47
 
Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome 25
Lymphedem-Lymphangiectasia-Intellectual Disability Syndrome 11
Lymphedema-Lymphangiectasia-Mental Retardation Syndrome 69
Lymphangiectasies and Lymphedema Hennekam Type 47
Lymphangiectasis, Intestinal 38
Hklls1 69

Characteristics:

Orphanet epidemiological data:

53
hennekam syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

63
hennekam lymphangiectasia-lymphedema syndrome 1:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 235510
Disease Ontology11 DOID:0060366
Orphanet53 ORPHA2136
SNOMED-CT61 234146006
UMLS via Orphanet68 C0340834
ICD10 via Orphanet30 Q87.8
MedGen36 C0340834

Summaries for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

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OMIM:51 Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic... (235510) more...

MalaCards based summary: Hennekam Lymphangiectasia-Lymphedema Syndrome 1, also known as hennekam 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 Lymphangiectasia-Lymphedema Syndrome 1 is CCBE1 (Collagen And Calcium Binding EGF Domains 1), and among its related pathways are VEGFR3 signaling in lymphatic endothelium and VEGF binds to VEGFR leading to receptor dimerization. Affiliated tissues include kidney, skin and thyroid, and related mouse phenotypes are immune system and digestive/alimentary.

Disease Ontology:11 A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients.

Genetics Home Reference:25 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.

UniProtKB/Swiss-Prot:69 Hennekam lymphangiectasia-lymphedema syndrome 1: A generalized lymph-vessels dysplasia characterized by intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia and face. In addition, affected individuals have unusual facies and severe mental retardation.

Wikipedia:70 Hennekam syndrome also known as Hennekam lymphangiectasia–lymphedema syndrome and intestinal... more...

Related Diseases for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

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Diseases in the Hennekam Lymphangiectasia-Lymphedema Syndrome 1 family:

Hennekam Lymphangiectasia-Lymphedema Syndrome 2

Diseases related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1hennekam lymphangiectasia-lymphedema syndrome 212.7
2ausems wittebol-post hennekam syndrome11.8
3lymphangiectasia, intestinal11.0
4cleft lip-retinopathy syndrome10.9
5synpolydactyly10.4CCBE1, FAT4
6diamond-blackfan anemia 410.3ALB, CCBE1
7lymphocytes absent10.3FLT4, PROX1
8silicosiderosis10.3FLT4, PROX1
9calcaneonavicular coalition10.3FLT4, VEGFC
10congenital cystic eye multiple ocular and intracranial anomalies10.3FLT4, PROX1
11hyperlucent lung10.2FLT4, PROX1
12epidermolysis bullosa10.2FLT4, PROX1
13ocular melanoma10.2FLT4, PROX1
14pediatric infratentorial ependymoma10.1FLT4, VEGFC
15polysyndactyly with cardiac malformation10.1ALB, SERPINA1
16horner's syndrome10.1ALB, SERPINA1
17chikungunya10.1FLT4, PROX1
18hyperuricemia10.1ALB, SERPINA1
19duodenal disease10.1ALB, SERPINA1
20lymphedema10.1
21sweat gland cancer10.0ALB, SERPINA1
22contagious pustular dermatitis10.0ALB, SERPINA1
23central nervous system adult germ cell tumor10.0ALB, SERPINA1
24leydig cell tumor10.0FLT4, PROX1, VEGFC
25hepatic coma9.9ALB, SERPINA1
26acute liver failure9.9ALB, EGF
27intracranial hemorrhage in brain cerebrovascular malformations9.9FLT4, PROX1, VEGFC
28carbohydrate metabolic disorder9.9EGF, FAT4
29acute gonococcal cervicitis9.9ALB, CCBE1, SERPINA1
30pericoronitis9.8KITLG, SERPINA1
31laryngeal tuberculosis9.8ALB, SERPINA1
32craniosynostosis9.8
33van maldergem syndrome9.8
34cerebritis9.8
35hydrops fetalis9.8
36pulpitis9.8ALB, EGF
37lymphopenia9.7ALB, SERPINA1
38eczematous dermatitis of eyelid9.5ALB, SERPINA1
39lymphoid leukemia9.4CCBE1, FAT4, FLT4, PROX1, VEGFC
40orofaciodigital syndrome vii7.3ALB, CCBE1, EGF, FAT4, FLT4, KITLG

Graphical network of the top 20 diseases related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1:



Diseases related to hennekam lymphangiectasia-lymphedema syndrome 1

Symptoms for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

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Symptoms by clinical synopsis from OMIM:

235510

Clinical features from OMIM:

235510

Human phenotypes related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1:

 63 (show all 92)
id Description HPO Frequency HPO Source Accession
1 malar flattening63 hallmark (90%) HP:0000272
2 hypertelorism63 hallmark (90%) HP:0000316
3 low-set, posteriorly rotated ears63 hallmark (90%) HP:0000368
4 delayed eruption of teeth63 hallmark (90%) HP:0000684
5 lymphedema63 hallmark (90%) HP:0001004
6 lymphopenia63 hallmark (90%) HP:0001888
7 abnormal facial shape63 hallmark (90%) HP:0001999
8 malabsorption63 hallmark (90%) HP:0002024
9 decreased antibody level in blood63 hallmark (90%) HP:0004313
10 depressed nasal bridge63 hallmark (90%) HP:0005280
11 abnormality of dental morphology63 hallmark (90%) HP:0006482
12 external ear malformation63 hallmark (90%) HP:0008572
13 reduced number of teeth63 hallmark (90%) HP:0009804
14 increased number of teeth63 hallmark (90%) HP:0011069
15 cognitive impairment63 hallmark (90%) HP:0100543
16 lymphangioma63 hallmark (90%) HP:0100764
17 abnormality of the genital system63 typical (50%) HP:0000078
18 gingival overgrowth63 typical (50%) HP:0000212
19 epicanthus63 typical (50%) HP:0000286
20 broad forehead63 typical (50%) HP:0000337
21 narrow chest63 typical (50%) HP:0000774
22 erysipelas63 typical (50%) HP:0001055
23 seizures63 typical (50%) HP:0001250
24 ascites63 typical (50%) HP:0001541
25 splenomegaly63 typical (50%) HP:0001744
26 recurrent respiratory infections63 typical (50%) HP:0002205
27 lymphadenopathy63 typical (50%) HP:0002716
28 narrow mouth63 occasional (7.5%) HP:0000160
29 short philtrum63 occasional (7.5%) HP:0000322
30 micrognathia63 occasional (7.5%) HP:0000347
31 conductive hearing impairment63 occasional (7.5%) HP:0000405
32 glaucoma63 occasional (7.5%) HP:0000501
33 craniosynostosis63 occasional (7.5%) HP:0001363
34 abnormality of the pericardium63 occasional (7.5%) HP:0001697
35 abnormality of the foot63 occasional (7.5%) HP:0001760
36 hydrops fetalis63 occasional (7.5%) HP:0001789
37 pyloric stenosis63 occasional (7.5%) HP:0002021
38 respiratory insufficiency63 occasional (7.5%) HP:0002093
39 abnormality of the pleura63 occasional (7.5%) HP:0002103
40 abnormality of neuronal migration63 occasional (7.5%) HP:0002269
41 hypocalcemia63 occasional (7.5%) HP:0002901
42 finger syndactyly63 occasional (7.5%) HP:0006101
43 arteriovenous malformation63 occasional (7.5%) HP:0100026
44 camptodactyly of finger63 occasional (7.5%) HP:0100490
45 abnormal localization of kidney63 occasional (7.5%) HP:0100542
46 benign neoplasm of the central nervous system63 occasional (7.5%) HP:0100835
47 cryptorchidism63 HP:0000028
48 vesicoureteral reflux63 HP:0000076
49 horseshoe kidney63 HP:0000085
50 ectopic kidney63 HP:0000086
51 hydronephrosis63 HP:0000126
52 narrow palate63 HP:0000189
53 retrognathia63 HP:0000278
54 smooth philtrum63 HP:0000319
55 low-set ears63 HP:0000369
56 sensorineural hearing impairment63 HP:0000407
57 wide nasal bridge63 HP:0000431
58 oligodontia63 HP:0000677
59 hyperactivity63 HP:0000752
60 pectus excavatum63 HP:0000767
61 hirsutism63 HP:0001007
62 intellectual disability63 HP:0001249
63 pachygyria63 HP:0001302
64 mild postnatal growth retardation63 HP:0001530
65 umbilical hernia63 HP:0001537
66 ventricular septal defect63 HP:0001629
67 atria septal defect63 HP:0001631
68 pericardial effusion63 HP:0001698
69 talipes equinovarus63 HP:0001762
70 short foot63 HP:0001773
71 rectal prolapse63 HP:0002035
72 pleural effusion63 HP:0002202
73 protein-losing enteropathy63 HP:0002243
74 intestinal lymphangiectasia63 HP:0002593
75 scoliosis63 HP:0002650
76 delayed skeletal maturation63 HP:0002750
77 hypoplastic iliac wing63 HP:0002866
78 hypoalbuminemia63 HP:0003073
79 spina bifida occulta63 HP:0003298
80 short palm63 HP:0004279
81 coronal craniosynostosis63 HP:0004440
82 pericardial lymphangiectasia63 HP:0005183
83 pleural lymphangiectasia63 HP:0006531
84 bilateral single transverse palmar creases63 HP:0007598
85 thyroid lymphangiectasia63 HP:0008229
86 joint contracture of the hand63 HP:0009473
87 cutaneous finger syndactyly63 HP:0010554
88 conical incisor63 HP:0011065
89 flat face63 HP:0012368
90 camptodactyly63 HP:0012385
91 periorbital edema63 HP:0100539
92 small hand63 HP:0200055

UMLS symptoms related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1:


seizures, periorbital edema

Drugs & Therapeutics for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hennekam Lymphangiectasia-Lymphedema Syndrome 1


Cochrane evidence based reviews: lymphangiectasis, intestinal

Genetic Tests for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

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Genetic tests related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1:

id Genetic test Affiliating Genes
1 Hennekam Lymphangiectasia-Lymphedema Syndrome26 24 CCBE1

Anatomical Context for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

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MalaCards organs/tissues related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1:

35
Kidney, Skin, Thyroid

Animal Models for Hennekam Lymphangiectasia-Lymphedema Syndrome 1 or affiliated genes

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MGI Mouse Phenotypes related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.2CCBE1, EGF, FLT4, KITLG, PROX1, VEGFC
2MP:00053818.1ALB, EGF, FAT4, FLT4, KITLG, PROX1
3MP:00053707.9ALB, CCBE1, FLT4, KITLG, PROX1

Publications for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

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Variations for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

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UniProtKB/Swiss-Prot genetic disease variations for Hennekam Lymphangiectasia-Lymphedema Syndrome 1:

69
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 Lymphangiectasia-Lymphedema Syndrome 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CCBE1NM_133459.3(CCBE1): c.223T> A (p.Cys75Ser)SNVPathogenicrs121908250GRCh37Chr 18, 57147460: 57147460
2CCBE1NM_133459.3(CCBE1): c.305G> C (p.Cys102Ser)SNVPathogenicrs121908251GRCh37Chr 18, 57136800: 57136800
3CCBE1NM_133459.3(CCBE1): c.979G> C (p.Gly327Arg)SNVPathogenicrs121908252GRCh37Chr 18, 57105351: 57105351
4CCBE1NM_133459.3(CCBE1): c.683_684insT (p.Leu229Profs)insertionPathogenicrs563023244GRCh38Chr 18, 59448074: 59448075
5CCBE1NM_133459.3(CCBE1): c.472C> T (p.Arg158Cys)SNVPathogenicrs121908253GRCh37Chr 18, 57134052: 57134052
6CCBE1NM_133459.3(CCBE1): c.520T> C (p.Cys174Arg)SNVPathogenicrs121908254GRCh37Chr 18, 57134004: 57134004

Expression for genes affiliated with Hennekam Lymphangiectasia-Lymphedema Syndrome 1

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Search GEO for disease gene expression data for Hennekam Lymphangiectasia-Lymphedema Syndrome 1.

Pathways for genes affiliated with Hennekam Lymphangiectasia-Lymphedema Syndrome 1

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Pathways related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1 according to GeneCards Suite gene sharing:

(show all 15)
idSuper pathwaysScoreTop Affiliating Genes
19.7FLT4, VEGFC
2
Show member pathways
9.7FLT4, VEGFC
39.4EGF, FLT4
4
Show member pathways
9.2FLT4, PROX1, VEGFC
5
Show member pathways
9.1EGF, FLT4, VEGFC
69.1EGF, FLT4, VEGFC
78.7EGF, KITLG, VEGFC
8
Show member pathways
8.2EGF, FLT4, KITLG, VEGFC
9
Show member pathways
8.2EGF, FLT4, KITLG, VEGFC
108.2EGF, FLT4, KITLG, VEGFC
11
Show member pathways
8.2EGF, FLT4, KITLG, VEGFC
12
Show member pathways
8.2EGF, FLT4, KITLG, VEGFC
138.2EGF, FLT4, KITLG, VEGFC
14
Show member pathways
8.2EGF, FLT4, KITLG, VEGFC
157.5ALB, EGF, KITLG, PROX1, SERPINA1

GO Terms for genes affiliated with Hennekam Lymphangiectasia-Lymphedema Syndrome 1

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Cellular components related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.1ALB, EGF, SERPINA1, VEGFC
2extracellular spaceGO:00056157.3ALB, CCBE1, EGF, KITLG, SERPINA1, VEGFC
3extracellular regionGO:00055766.9ALB, EGF, FLT4, KITLG, SERPINA1, VEGFC

Biological processes related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1 according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of lymphangiogenesisGO:190149210.3CCBE1, VEGFC
2respiratory system processGO:000301610.3CCBE1, FLT4
3sprouting angiogenesisGO:000204010.3CCBE1, FLT4
4venous blood vessel morphogenesisGO:004884510.2CCBE1, PROX1
5lymph vessel developmentGO:000194510.2FLT4, PROX1
6respiratory gaseous exchangeGO:000758510.1CCBE1, FLT4
7positive regulation of vascular endothelial growth factor productionGO:00105759.9CCBE1, FLT4
8positive regulation of endothelial cell migrationGO:00105959.8CCBE1, FLT4, PROX1
9lymphangiogenesisGO:00019469.8CCBE1, FLT4, PROX1
10positive regulation of MAP kinase activityGO:00434069.1EGF, KITLG
11positive regulation of peptidyl-tyrosine phosphorylationGO:00507318.9EGF, KITLG, VEGFC
12platelet degranulationGO:00025768.8ALB, EGF, SERPINA1, VEGFC
13positive regulation of cell proliferationGO:00082847.8EGF, FLT4, KITLG, PROX1, VEGFC

Molecular functions related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.3EGF, KITLG
2growth factor activityGO:00080838.7EGF, KITLG, VEGFC

Sources for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet