MCID: HNN005
MIFTS: 33

Hennekam Lymphangiectasia-Lymphedema Syndrome 1

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

MalaCards integrated aliases for Hennekam Lymphangiectasia-Lymphedema Syndrome 1:

Name: Hennekam Lymphangiectasia-Lymphedema Syndrome 1 53 71 69
Hennekam Lymphangiectasia-Lymphedema Syndrome 53 28 13
Hklls1 53 71
Lymphedema-Lymphangiectasia-Mental Retardation Syndrome 71
Hennekam Lymphangiectasia Lymphedema Syndrome 69
Lymphatic Dysplasia, Generalized 53
Generalized Lymphatic Dysplasia 71
Lymphangiectasis, Intestinal 41
Hennekam Syndrome 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
hennekam lymphangiectasia-lymphedema syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

OMIM : 53 Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014). (235510)

MalaCards based summary : Hennekam Lymphangiectasia-Lymphedema Syndrome 1, also known as hennekam lymphangiectasia-lymphedema syndrome, is related to hennekam syndrome and ausems wittebol-post hennekam syndrome, and has symptoms including seizures, periorbital edema and malar flattening. An important gene associated with Hennekam Lymphangiectasia-Lymphedema Syndrome 1 is CCBE1 (Collagen And Calcium Binding EGF Domains 1). Affiliated tissues include kidney, bone and thyroid.

UniProtKB/Swiss-Prot : 71 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.

Related Diseases for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

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



Diseases related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1

Symptoms & Phenotypes for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
mental retardation (sometimes)
focal parietal pachygyria

Head And Neck Ears:
low-set ears
hearing loss, conductive
hearing loss, sensorineural

Skeletal Spine:
scoliosis
spina bifida occulta

Abdomen Gastroin testinal:
umbilical hernia
rectal prolapse
protein-losing enteropathy
intestinal lymphangiectasia

Genitourinary Kidneys:
ectopic kidney
horseshoe kidney
hydronephrosis
renal lymphangiectasia

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
pericardial lymphangiectasia
pericardial effusions

Genitourinary Ureters:
vesicoureteral reflux
duplicated ureter

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity

Skin Nails Hair Skin:
erysipelas
bilateral single palmar creases

Skeletal Hands:
camptodactyly
small hands
cutaneous syndactyly (fingers 2,3,4,5)
bilateral single palmar creases

Skeletal:
delayed bone age

Skeletal Pelvis:
hypoplastic iliac wings

Respiratory Lung:
pleural lymphangiectasia
pleural effusions

Endocrine Features:
thyroid lymphangiectasia

Head And Neck Eyes:
periorbital edema
hypertelorism
glaucoma
epicanthal folds

Chest RibsSternum Clavicles And Scapulae:
pectus excavatum
horizontal clavicles

Head And Neck Mouth:
narrow palate
microstomia
gingival hypertrophy

Head And Neck Face:
smooth philtrum
retrognathia
flat face
broad forehead
lymphedematous facies

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Skull:
coronal craniosynostosis

Skeletal Feet:
talipes equinovarus
small feet

Laboratory Abnormalities:
hypoalbuminemia

Head And Neck Teeth:
oligodontia
peg-shaped incisors
delayed eruption

Skin Nails Hair Hair:
hirsutism

Head And Neck Nose:
flat, broad nasal bridge

Growth Other:
growth retardation, mild

Muscle Soft Tissue:
lymphedema (lower extremities)

Immunology:
hypoglobulinemia


Clinical features from OMIM:

235510

Human phenotypes related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1:

31 (show top 50) (show all 59)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 periorbital edema 31 HP:0100539
3 malar flattening 31 HP:0000272
4 hypertelorism 31 HP:0000316
5 low-set ears 31 HP:0000369
6 pectus excavatum 31 HP:0000767
7 intellectual disability 31 HP:0001249
8 scoliosis 31 HP:0002650
9 narrow palate 31 HP:0000189
10 gingival overgrowth 31 HP:0000212
11 delayed skeletal maturation 31 HP:0002750
12 depressed nasal bridge 31 HP:0005280
13 wide nasal bridge 31 HP:0000431
14 umbilical hernia 31 HP:0001537
15 smooth philtrum 31 HP:0000319
16 sensorineural hearing impairment 31 HP:0000407
17 ectopic kidney 31 HP:0000086
18 retrognathia 31 HP:0000278
19 delayed eruption of teeth 31 HP:0000684
20 short palm 31 HP:0004279
21 epicanthus 31 HP:0000286
22 short foot 31 HP:0001773
23 cryptorchidism 31 HP:0000028
24 lymphedema 31 HP:0001004
25 flat face 31 HP:0012368
26 horseshoe kidney 31 HP:0000085
27 atrial septal defect 31 HP:0001631
28 broad forehead 31 HP:0000337
29 hypoplastic iliac wing 31 HP:0002866
30 coronal craniosynostosis 31 HP:0004440
31 small hand 31 HP:0200055
32 glaucoma 31 HP:0000501
33 narrow mouth 31 HP:0000160
34 conductive hearing impairment 31 HP:0000405
35 bilateral single transverse palmar creases 31 HP:0007598
36 vesicoureteral reflux 31 HP:0000076
37 ventricular septal defect 31 HP:0001629
38 talipes equinovarus 31 HP:0001762
39 rectal prolapse 31 HP:0002035
40 spina bifida occulta 31 HP:0003298
41 cutaneous finger syndactyly 31 HP:0010554
42 hydronephrosis 31 HP:0000126
43 pachygyria 31 HP:0001302
44 conical incisor 31 HP:0011065
45 hyperactivity 31 HP:0000752
46 pleural effusion 31 HP:0002202
47 hypoalbuminemia 31 HP:0003073
48 protein-losing enteropathy 31 HP:0002243
49 erysipelas 31 HP:0001055
50 oligodontia 31 HP:0000677

UMLS symptoms related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1:


seizures

Drugs & Therapeutics for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

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

Cochrane evidence based reviews: lymphangiectasis, intestinal

Genetic Tests for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

Genetic tests related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1:

# Genetic test Affiliating Genes
1 Hennekam Lymphangiectasia-Lymphedema Syndrome 28 CCBE1

Anatomical Context for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

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

38
Kidney, Bone, Thyroid

Publications for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

Articles related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1:

# Title Authors Year
1
Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. ( 26333996 )
2015
2
CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalis. ( 22239599 )
2012
3
Nonimmune hydrops fetalis due to generalized lymphatic dysplasia in an infant with Robertsonian trisomy 21. ( 16450276 )
2006
4
Primary lymphatic dysplasia in children: chylothorax, chylous ascites, and generalized lymphatic dysplasia. ( 3769996 )
1986

Variations for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

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

71
# Symbol AA change Variation ID SNP ID
1 CCBE1 p.Cys75Ser VAR_063746 rs121908250
2 CCBE1 p.Cys102Ser VAR_063747 rs121908251
3 CCBE1 p.Arg158Cys VAR_063748 rs121908253
4 CCBE1 p.Cys174Arg VAR_063749 rs121908254
5 CCBE1 p.Gly327Arg VAR_063750 rs121908252

ClinVar genetic disease variations for Hennekam Lymphangiectasia-Lymphedema Syndrome 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CCBE1 NM_133459.3(CCBE1): c.223T> A (p.Cys75Ser) single nucleotide variant Pathogenic rs121908250 GRCh37 Chromosome 18, 57147460: 57147460
2 CCBE1 NM_133459.3(CCBE1): c.305G> C (p.Cys102Ser) single nucleotide variant Pathogenic rs121908251 GRCh37 Chromosome 18, 57136800: 57136800
3 CCBE1 NM_133459.3(CCBE1): c.979G> C (p.Gly327Arg) single nucleotide variant Pathogenic rs121908252 GRCh37 Chromosome 18, 57105351: 57105351
4 CCBE1 NM_133459.3(CCBE1): c.683_684insT (p.Leu229Profs) insertion Pathogenic rs563023244 GRCh38 Chromosome 18, 59448074: 59448075
5 CCBE1 NM_133459.3(CCBE1): c.520T> C (p.Cys174Arg) single nucleotide variant Pathogenic rs121908254 GRCh37 Chromosome 18, 57134004: 57134004

Expression for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

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

Pathways for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

GO Terms for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

Sources for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....