MCID: HNN005
MIFTS: 26

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 54 24 71 69
Hklls1 24 71
Lymphedema-Lymphangiectasia-Mental Retardation Syndrome 71
Hennekam Lymphangiectasia Lymphedema Syndrome 69
Generalized Lymphatic Dysplasia 71
Lymphangiectasis, Intestinal 42
Hennekam Syndrome 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
hennekam lymphangiectasia-lymphedema syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

OMIM : 54
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 hklls1, is related to lymphedema, hereditary, iii and hennekam syndrome, and has symptoms including scoliosis, hirsutism and umbilical hernia. 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

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:

id Related Disease Score Top Affiliating Genes
1 lymphedema, hereditary, iii 11.6
2 hennekam syndrome 11.0
3 hennekam lymphangiectasia-lymphedema syndrome 2 10.9
4 lymphangiectasis 9.7

Symptoms & Phenotypes for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Spine:
scoliosis
spina bifida occulta

Skin Nails & Hair- Hair:
hirsutism

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

Head And Neck- Eyes:
epicanthal folds
hypertelorism
glaucoma
periorbital edema

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

Genitourinary- Kidneys:
hydronephrosis
horseshoe kidney
renal lymphangiectasia
ectopic kidney

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

Neurologic- Behavioral Psychiatric Manifestations:
hyperactivity

Genitourinary- Ureters:
vesicoureteral reflux
duplicated ureter

Laboratory- Abnormalities:
hypoalbuminemia

Head And Neck- Nose:
flat, broad nasal bridge

Respiratory- Lung:
pleural effusions
pleural lymphangiectasia

Growth- Other:
growth retardation, mild

Endocrine Features:
thyroid lymphangiectasia

Skeletal:
delayed bone age

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

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

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

Head And Neck- Mouth:
narrow palate
microstomia
gingival hypertrophy

Genitourinary- Internal Genitalia Male:
cryptorchidism

Skeletal- Feet:
talipes equinovarus
small feet

Chest- Ribs Sternum Clavicles And Scapulae:
pectus excavatum
horizontal clavicles

Skeletal- Pelvis:
hypoplastic iliac wings

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

Skeletal- Skull:
coronal craniosynostosis

Skin Nails & Hair- Skin:
erysipelas
bilateral single palmar creases

Muscle Soft Tissue:
lymphedema (lower extremities)

Immunology:
hypoglobulinemia


Clinical features from OMIM:

235510

Human phenotypes related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1:

32 (show top 50) (show all 59)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 hirsutism 32 HP:0001007
3 umbilical hernia 32 HP:0001537
4 seizures 32 HP:0001250
5 low-set ears 32 HP:0000369
6 depressed nasal bridge 32 HP:0005280
7 hypertelorism 32 HP:0000316
8 atrial septal defect 32 HP:0001631
9 glaucoma 32 HP:0000501
10 pachygyria 32 HP:0001302
11 retrognathia 32 HP:0000278
12 narrow palate 32 HP:0000189
13 hydronephrosis 32 HP:0000126
14 cryptorchidism 32 HP:0000028
15 camptodactyly 32 HP:0012385
16 talipes equinovarus 32 HP:0001762
17 broad forehead 32 HP:0000337
18 intellectual disability 32 HP:0001249
19 ventricular septal defect 32 HP:0001629
20 hyperactivity 32 HP:0000752
21 wide nasal bridge 32 HP:0000431
22 pectus excavatum 32 HP:0000767
23 horseshoe kidney 32 HP:0000085
24 vesicoureteral reflux 32 HP:0000076
25 spina bifida occulta 32 HP:0003298
26 pericardial effusion 32 HP:0001698
27 flat face 32 HP:0012368
28 hypoalbuminemia 32 HP:0003073
29 smooth philtrum 32 HP:0000319
30 epicanthus 32 HP:0000286
31 delayed skeletal maturation 32 HP:0002750
32 sensorineural hearing impairment 32 HP:0000407
33 oligodontia 32 HP:0000677
34 malar flattening 32 HP:0000272
35 periorbital edema 32 HP:0100539
36 pleural effusion 32 HP:0002202
37 coronal craniosynostosis 32 HP:0004440
38 pericardial lymphangiectasia 32 HP:0005183
39 intestinal lymphangiectasia 32 HP:0002593
40 lymphedema 32 HP:0001004
41 ectopic kidney 32 HP:0000086
42 hypoplastic iliac wing 32 HP:0002866
43 rectal prolapse 32 HP:0002035
44 protein-losing enteropathy 32 HP:0002243
45 delayed eruption of teeth 32 HP:0000684
46 erysipelas 32 HP:0001055
47 narrow mouth 32 HP:0000160
48 small hand 32 HP:0200055
49 gingival overgrowth 32 HP:0000212
50 pleural lymphangiectasia 32 HP:0006531

UMLS symptoms related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1:


seizures, periorbital edema

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:

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

Anatomical Context for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

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

39
Kidney, Bone, Thyroid

Publications for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

Variations for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

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

71
id 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
id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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