MCID: HNN005
MIFTS: 31

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 57 75 73
Hennekam Lymphangiectasia-Lymphedema Syndrome 57 29 13 6
Hklls1 57 75
Lymphedema-Lymphangiectasia-Mental Retardation Syndrome 75
Syndrome, Lymphangiectasia-Lymphedema, Hennekam, Type 1 40
Hennekam Lymphangiectasia Lymphedema Syndrome 73
Lymphatic Dysplasia, Generalized 57
Generalized Lymphatic Dysplasia 75
Lymphangiectasis, Intestinal 44
Hennekam Syndrome 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

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


Classifications:



Summaries for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

OMIM : 57 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 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, and related phenotypes are malar flattening and hypertelorism

UniProtKB/Swiss-Prot : 75 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:

57
Head And Neck Eyes:
hypertelorism
glaucoma
periorbital edema
epicanthal folds

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
horizontal clavicles

Skeletal Spine:
scoliosis
spina bifida occulta

Abdomen Gastrointestinal:
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 Ears:
low-set ears
hearing loss, conductive
hearing loss, sensorineural

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

Head And Neck Mouth:
narrow palate
microstomia
gingival hypertrophy

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

GenitourinaryInternal GenitaliaMale:
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:

32 (show top 50) (show all 59)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 hypertelorism 32 HP:0000316
3 low-set ears 32 HP:0000369
4 pectus excavatum 32 HP:0000767
5 intellectual disability 32 HP:0001249
6 seizures 32 HP:0001250
7 scoliosis 32 HP:0002650
8 narrow palate 32 HP:0000189
9 gingival overgrowth 32 HP:0000212
10 delayed skeletal maturation 32 HP:0002750
11 depressed nasal bridge 32 HP:0005280
12 wide nasal bridge 32 HP:0000431
13 umbilical hernia 32 HP:0001537
14 smooth philtrum 32 HP:0000319
15 sensorineural hearing impairment 32 HP:0000407
16 ectopic kidney 32 HP:0000086
17 retrognathia 32 HP:0000278
18 delayed eruption of teeth 32 HP:0000684
19 short palm 32 HP:0004279
20 epicanthus 32 HP:0000286
21 short foot 32 HP:0001773
22 cryptorchidism 32 HP:0000028
23 lymphedema 32 HP:0001004
24 flat face 32 HP:0012368
25 horseshoe kidney 32 HP:0000085
26 atrial septal defect 32 HP:0001631
27 broad forehead 32 HP:0000337
28 hypoplastic iliac wing 32 HP:0002866
29 coronal craniosynostosis 32 HP:0004440
30 small hand 32 HP:0200055
31 glaucoma 32 HP:0000501
32 narrow mouth 32 HP:0000160
33 conductive hearing impairment 32 HP:0000405
34 bilateral single transverse palmar creases 32 HP:0007598
35 vesicoureteral reflux 32 HP:0000076
36 ventricular septal defect 32 HP:0001629
37 talipes equinovarus 32 HP:0001762
38 rectal prolapse 32 HP:0002035
39 spina bifida occulta 32 HP:0003298
40 periorbital edema 32 HP:0100539
41 cutaneous finger syndactyly 32 HP:0010554
42 hydronephrosis 32 HP:0000126
43 pachygyria 32 HP:0001302
44 conical incisor 32 HP:0011065
45 hyperactivity 32 HP:0000752
46 pleural effusion 32 HP:0002202
47 hypoalbuminemia 32 HP:0003073
48 protein-losing enteropathy 32 HP:0002243
49 erysipelas 32 HP:0001055
50 oligodontia 32 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 29 CCBE1

Anatomical Context for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

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

41
Kidney, Bone, Thyroid

Publications for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

Articles related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1:

# Title Authors Year
1
Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3. ( 28985353 )
2017

Variations for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

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

75
# 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
(show top 50) (show all 280)
# 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.223T> A (p.Cys75Ser) single nucleotide variant Pathogenic rs121908250 GRCh38 Chromosome 18, 59480228: 59480228
3 CCBE1 NM_133459.3(CCBE1): c.305G> C (p.Cys102Ser) single nucleotide variant Pathogenic rs121908251 GRCh37 Chromosome 18, 57136800: 57136800
4 CCBE1 NM_133459.3(CCBE1): c.305G> C (p.Cys102Ser) single nucleotide variant Pathogenic rs121908251 GRCh38 Chromosome 18, 59469568: 59469568
5 CCBE1 NM_133459.3(CCBE1): c.979G> C (p.Gly327Arg) single nucleotide variant Pathogenic rs121908252 GRCh37 Chromosome 18, 57105351: 57105351
6 CCBE1 NM_133459.3(CCBE1): c.979G> C (p.Gly327Arg) single nucleotide variant Pathogenic rs121908252 GRCh38 Chromosome 18, 59438119: 59438119
7 CCBE1 NM_133459.3(CCBE1): c.683_684insT (p.Leu229Profs) insertion Pathogenic rs563023244 GRCh38 Chromosome 18, 59448074: 59448075
8 CCBE1 NM_133459.3(CCBE1): c.683_684insT (p.Leu229Profs) insertion Pathogenic rs563023244 GRCh37 Chromosome 18, 57115306: 57115307
9 CCBE1 NM_133459.3(CCBE1): c.520T> C (p.Cys174Arg) single nucleotide variant Pathogenic rs121908254 GRCh37 Chromosome 18, 57134004: 57134004
10 CCBE1 NM_133459.3(CCBE1): c.520T> C (p.Cys174Arg) single nucleotide variant Pathogenic rs121908254 GRCh38 Chromosome 18, 59466772: 59466772
11 CCBE1 NM_133459.3(CCBE1): c.*14C> T single nucleotide variant Uncertain significance rs72958116 GRCh38 Chromosome 18, 59435894: 59435894
12 CCBE1 NM_133459.3(CCBE1): c.*14C> T single nucleotide variant Uncertain significance rs72958116 GRCh37 Chromosome 18, 57103126: 57103126
13 CCBE1 NM_133459.3(CCBE1): c.988-10A> G single nucleotide variant Likely benign rs115490148 GRCh38 Chromosome 18, 59436151: 59436151
14 CCBE1 NM_133459.3(CCBE1): c.988-10A> G single nucleotide variant Likely benign rs115490148 GRCh37 Chromosome 18, 57103383: 57103383
15 CCBE1 NM_133459.3(CCBE1): c.837C> T (p.Pro279=) single nucleotide variant Uncertain significance rs61745250 GRCh37 Chromosome 18, 57106987: 57106987
16 CCBE1 NM_133459.3(CCBE1): c.837C> T (p.Pro279=) single nucleotide variant Uncertain significance rs61745250 GRCh38 Chromosome 18, 59439755: 59439755
17 CCBE1 NM_133459.3(CCBE1): c.775+12A> G single nucleotide variant Benign rs1893788 GRCh37 Chromosome 18, 57115203: 57115203
18 CCBE1 NM_133459.3(CCBE1): c.775+12A> G single nucleotide variant Benign rs1893788 GRCh38 Chromosome 18, 59447971: 59447971
19 CCBE1 NM_133459.3(CCBE1): c.*4940A> T single nucleotide variant Uncertain significance rs374031151 GRCh38 Chromosome 18, 59430968: 59430968
20 CCBE1 NM_133459.3(CCBE1): c.*4940A> T single nucleotide variant Uncertain significance rs374031151 GRCh37 Chromosome 18, 57098200: 57098200
21 CCBE1 NM_133459.3(CCBE1): c.*4846G> A single nucleotide variant Likely benign rs141622451 GRCh38 Chromosome 18, 59431062: 59431062
22 CCBE1 NM_133459.3(CCBE1): c.*4846G> A single nucleotide variant Likely benign rs141622451 GRCh37 Chromosome 18, 57098294: 57098294
23 CCBE1 NM_133459.3(CCBE1): c.*4553_*4555delAAT deletion Uncertain significance rs553910582 GRCh38 Chromosome 18, 59431353: 59431355
24 CCBE1 NM_133459.3(CCBE1): c.*4553_*4555delAAT deletion Uncertain significance rs553910582 GRCh37 Chromosome 18, 57098585: 57098587
25 CCBE1 NM_133459.3(CCBE1): c.*4180A> G single nucleotide variant Likely benign rs556156318 GRCh38 Chromosome 18, 59431728: 59431728
26 CCBE1 NM_133459.3(CCBE1): c.*4180A> G single nucleotide variant Likely benign rs556156318 GRCh37 Chromosome 18, 57098960: 57098960
27 CCBE1 NM_133459.3(CCBE1): c.*3893C> T single nucleotide variant Uncertain significance rs192002000 GRCh37 Chromosome 18, 57099247: 57099247
28 CCBE1 NM_133459.3(CCBE1): c.*3893C> T single nucleotide variant Uncertain significance rs192002000 GRCh38 Chromosome 18, 59432015: 59432015
29 CCBE1 NM_133459.3(CCBE1): c.*3703G> A single nucleotide variant Uncertain significance rs886054044 GRCh38 Chromosome 18, 59432205: 59432205
30 CCBE1 NM_133459.3(CCBE1): c.*3703G> A single nucleotide variant Uncertain significance rs886054044 GRCh37 Chromosome 18, 57099437: 57099437
31 CCBE1 NM_133459.3(CCBE1): c.*3668_*3676delGCCTGTAAT deletion Uncertain significance rs886054045 GRCh38 Chromosome 18, 59432232: 59432240
32 CCBE1 NM_133459.3(CCBE1): c.*3668_*3676delGCCTGTAAT deletion Uncertain significance rs886054045 GRCh37 Chromosome 18, 57099464: 57099472
33 CCBE1 NM_133459.3(CCBE1): c.*3623A> C single nucleotide variant Uncertain significance rs886054046 GRCh38 Chromosome 18, 59432285: 59432285
34 CCBE1 NM_133459.3(CCBE1): c.*3623A> C single nucleotide variant Uncertain significance rs886054046 GRCh37 Chromosome 18, 57099517: 57099517
35 CCBE1 NM_133459.3(CCBE1): c.*3475G> C single nucleotide variant Likely benign rs17769805 GRCh38 Chromosome 18, 59432433: 59432433
36 CCBE1 NM_133459.3(CCBE1): c.*3475G> C single nucleotide variant Likely benign rs17769805 GRCh37 Chromosome 18, 57099665: 57099665
37 CCBE1 NM_133459.3(CCBE1): c.*3257A> G single nucleotide variant Uncertain significance rs548992924 GRCh38 Chromosome 18, 59432651: 59432651
38 CCBE1 NM_133459.3(CCBE1): c.*3257A> G single nucleotide variant Uncertain significance rs548992924 GRCh37 Chromosome 18, 57099883: 57099883
39 CCBE1 NM_133459.3(CCBE1): c.*3143T> C single nucleotide variant Uncertain significance rs886054047 GRCh38 Chromosome 18, 59432765: 59432765
40 CCBE1 NM_133459.3(CCBE1): c.*3143T> C single nucleotide variant Uncertain significance rs886054047 GRCh37 Chromosome 18, 57099997: 57099997
41 CCBE1 NM_133459.3(CCBE1): c.*3036C> G single nucleotide variant Likely benign rs75031007 GRCh38 Chromosome 18, 59432872: 59432872
42 CCBE1 NM_133459.3(CCBE1): c.*3036C> G single nucleotide variant Likely benign rs75031007 GRCh37 Chromosome 18, 57100104: 57100104
43 CCBE1 NM_133459.3(CCBE1): c.*2891G> A single nucleotide variant Uncertain significance rs886054048 GRCh38 Chromosome 18, 59433017: 59433017
44 CCBE1 NM_133459.3(CCBE1): c.*2891G> A single nucleotide variant Uncertain significance rs886054048 GRCh37 Chromosome 18, 57100249: 57100249
45 CCBE1 NM_133459.3(CCBE1): c.*2787T> C single nucleotide variant Likely benign rs538634534 GRCh38 Chromosome 18, 59433121: 59433121
46 CCBE1 NM_133459.3(CCBE1): c.*2787T> C single nucleotide variant Likely benign rs538634534 GRCh37 Chromosome 18, 57100353: 57100353
47 CCBE1 NM_133459.3(CCBE1): c.*2638delA deletion Benign rs5825337 GRCh38 Chromosome 18, 59433270: 59433270
48 CCBE1 NM_133459.3(CCBE1): c.*2638delA deletion Benign rs5825337 GRCh37 Chromosome 18, 57100502: 57100502
49 CCBE1 NM_133459.3(CCBE1): c.*2460T> C single nucleotide variant Uncertain significance rs76216795 GRCh38 Chromosome 18, 59433448: 59433448
50 CCBE1 NM_133459.3(CCBE1): c.*2460T> C single nucleotide variant Uncertain significance rs76216795 GRCh37 Chromosome 18, 57100680: 57100680

Expression for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

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Pathways for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

GO Terms for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

Sources for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

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