HKLLS1
MCID: HNN005
MIFTS: 40

Hennekam Lymphangiectasia-Lymphedema Syndrome 1 (HKLLS1)

Categories: Gastrointestinal diseases, 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 72 29 6 70
Hennekam Lymphangiectasia-Lymphedema Syndrome 57 36 29 13
Hklls1 57 72
Lymphedema-Lymphangiectasia-Mental Retardation Syndrome 72
Syndrome, Lymphangiectasia-Lymphedema, Hennekam, Type 1 39
Hennekam Lymphangiectasia Lymphedema Syndrome 70
Lymphatic Dysplasia, Generalized 57
Generalized Lymphatic Dysplasia 72
Lymphangiectasis, Intestinal 44
Hennekam Syndrome 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

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


Classifications:



Summaries for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

KEGG : 36 Hennekam lymphangiectasia-lymphedema syndrome (HKLLS) is characterized by congenital lymphedema, lymphangiectasia, unusual facial morphology, and variable intellectual disabilities. Mutations in CCBE1, an extracellular matrix protein essential for the development of the lymphatic vasculature, have been found responsible for the syndrome. As a second cause for HKLLS, the mutations in FAT4 has been described.

MalaCards based summary : Hennekam Lymphangiectasia-Lymphedema Syndrome 1, also known as hennekam lymphangiectasia-lymphedema syndrome, is related to hennekam syndrome and van maldergem 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), and among its related pathways/superpathways is Hippo signaling pathway - multiple species. The drug Complement System Proteins has been mentioned in the context of this disorder. Affiliated tissues include kidney, thyroid and bone, and related phenotypes are intellectual disability and scoliosis

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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Hennekam lymphangiectasia-lymphedema syndrome 1: A form of Hennekam lymphangiectasia-lymphedema syndrome, 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 some manifest mental retardation. HKLLS1 inheritance is autosomal recessive.

Related Diseases for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

Diseases in the Hennekam Lymphangiectasia-Lymphedema Syndrome 1 family:

Hennekam Lymphangiectasia-Lymphedema Syndrome 2 Hennekam Lymphangiectasia-Lymphedema Syndrome 3

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

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 hennekam syndrome 29.6 FAT4 CCBE1
2 van maldergem syndrome 29.6 FAT4 CCBE1
3 lymphatic malformation 6 11.6
4 menke-hennekam syndrome 2 11.6
5 menke-hennekam syndrome 1 11.6
6 piezo1-related generalized lymphatic dysplasia with non-immune hydrops fetalis 11.5
7 ephb4-related lymphatic-related hydrops fetalis 11.4
8 menke-hennekam syndrome 11.3
9 ausems wittebol-post hennekam syndrome 11.2
10 cleft lip-retinopathy syndrome 11.2
11 lymphangiectasia, intestinal 11.2
12 hennekam lymphangiectasia-lymphedema syndrome 2 10.9
13 hennekam lymphangiectasia-lymphedema syndrome 3 10.9
14 autosomal recessive disease 10.3
15 hypertelorism 10.3
16 protein-losing enteropathy 10.3
17 hydrops fetalis, nonimmune 10.3
18 lymphatic malformation 7 10.3
19 hereditary lymphedema i 10.3
20 lymphangiectasis 10.3
21 alacrima, achalasia, and mental retardation syndrome 10.3
22 primary lymphedema 10.2
23 immune hydrops fetalis 10.2
24 van maldergem syndrome 1 10.1
25 agammaglobulinemia 10.1
26 congenital lymphedema 10.1
27 lymphatic malformation 1 10.1
28 ascites, chylous 10.1
29 deficiency anemia 10.1
30 iron deficiency anemia 10.1
31 iron metabolism disease 10.1
32 primary intestinal lymphangiectasia 10.1
33 down syndrome 9.9
34 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 9.9
35 hemangioma 9.9
36 chromosomal triplication 9.9
37 lymphangiomatosis 9.9
38 hereditary stomatocytosis 9.9
39 pelvic organ prolapse 9.9
40 vesicoureteral reflux 1 9.9
41 otopalatodigital syndrome, type i 9.9
42 chylothorax, congenital 9.9
43 chromosome 16p13.3 deletion syndrome, proximal 9.9
44 van maldergem syndrome 2 9.9
45 microcephaly 9.9
46 erysipelas 9.9
47 hemopericardium 9.9
48 pericardial effusion 9.9
49 hypertrophic pyloric stenosis 9.9
50 pyloric stenosis 9.9

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

Human phenotypes related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1:

31 (show top 50) (show all 59)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 scoliosis 31 HP:0002650
3 delayed skeletal maturation 31 HP:0002750
4 depressed nasal bridge 31 HP:0005280
5 narrow palate 31 HP:0000189
6 gingival overgrowth 31 HP:0000212
7 hypertelorism 31 HP:0000316
8 wide nasal bridge 31 HP:0000431
9 umbilical hernia 31 HP:0001537
10 smooth philtrum 31 HP:0000319
11 sensorineural hearing impairment 31 HP:0000407
12 lymphedema 31 HP:0001004
13 flat face 31 HP:0012368
14 cryptorchidism 31 HP:0000028
15 retrognathia 31 HP:0000278
16 low-set ears 31 HP:0000369
17 horseshoe kidney 31 HP:0000085
18 ectopic kidney 31 HP:0000086
19 epicanthus 31 HP:0000286
20 pectus excavatum 31 HP:0000767
21 atrial septal defect 31 HP:0001631
22 talipes equinovarus 31 HP:0001762
23 glaucoma 31 HP:0000501
24 delayed eruption of teeth 31 HP:0000684
25 narrow mouth 31 HP:0000160
26 conductive hearing impairment 31 HP:0000405
27 bilateral single transverse palmar creases 31 HP:0007598
28 vesicoureteral reflux 31 HP:0000076
29 hydronephrosis 31 HP:0000126
30 malar flattening 31 HP:0000272
31 ventricular septal defect 31 HP:0001629
32 broad forehead 31 HP:0000337
33 rectal prolapse 31 HP:0002035
34 spina bifida occulta 31 HP:0003298
35 periorbital edema 31 HP:0100539
36 small hand 31 HP:0200055
37 cutaneous finger syndactyly 31 HP:0010554
38 pachygyria 31 HP:0001302
39 hypoalbuminemia 31 HP:0003073
40 conical incisor 31 HP:0011065
41 short foot 31 HP:0001773
42 short palm 31 HP:0004279
43 pleural effusion 31 HP:0002202
44 hirsutism 31 HP:0001007
45 hyperactivity 31 HP:0000752
46 pericardial effusion 31 HP:0001698
47 erysipelas 31 HP:0001055
48 oligodontia 31 HP:0000677
49 camptodactyly 31 HP:0012385
50 hypoplastic iliac wing 31 HP:0002866

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
mental retardation (sometimes)
focal parietal pachygyria

Head And Neck Mouth:
narrow palate
microstomia
gingival hypertrophy

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

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary Kidneys:
horseshoe kidney
ectopic kidney
hydronephrosis
renal lymphangiectasia

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

Genitourinary Ureters:
vesicoureteral reflux
duplicated ureter

Skin Nails Hair Hair:
hirsutism

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

Endocrine Features:
thyroid lymphangiectasia

Skeletal:
delayed bone age

Skeletal Pelvis:
hypoplastic iliac wings

Muscle Soft Tissue:
lymphedema (lower extremities)

Skeletal Spine:
scoliosis
spina bifida occulta

Head And Neck Eyes:
hypertelorism
glaucoma
periorbital edema
epicanthal folds

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

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

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
horizontal clavicles

Skeletal Feet:
talipes equinovarus
small feet

Laboratory Abnormalities:
hypoalbuminemia

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity

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

Skeletal Skull:
coronal craniosynostosis

Respiratory Lung:
pleural lymphangiectasia
pleural effusions

Head And Neck Nose:
flat, broad nasal bridge

Growth Other:
growth retardation, mild

Immunology:
hypoglobulinemia

Clinical features from OMIM®:

235510 (Updated 05-Apr-2021)

UMLS symptoms related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1:


seizures

Drugs & Therapeutics for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

Drugs for Hennekam Lymphangiectasia-Lymphedema Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Complement System Proteins

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Transcriptome and Metabolic Analyses of CHAPLE Disease Patients With or Without Eculizumab Treatment Recruiting NCT03950804 Eculizumab Injection

Search 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 1 29 CCBE1
2 Hennekam Lymphangiectasia-Lymphedema Syndrome 29

Anatomical Context for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

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

40
Kidney, Thyroid, Bone, Endothelial

Publications for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

Articles related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1:

(show all 20)
# Title Authors PMID Year
1
Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. 6 57
19911200 2010
2
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. 57 6
19935664 2009
3
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. 57 61
24913602 2014
4
Further delineation of Hennekam syndrome. 57
14564208 2003
5
Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia. 57
12794699 2003
6
Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review. 57
12376947 2002
7
Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: further case of Hennekam syndrome with a severe phenotype. 57
12124738 2002
8
Early death in two sisters with Hennekam syndrome. 57
10925377 2000
9
Craniosynostosis and kidney malformation in a case of Hennekam syndrome. 57
7645602 1995
10
Protein-losing gastroenteropathy with facial anomaly and growth retardation: a mild case of Hennekam syndrome. 57
8465855 1993
11
Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face: confirmation of the Hennekam syndrome. 57
1897580 1991
12
Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation. 57
2624276 1989
13
[Variant analysis of CCBE1 gene in a case of Hennekam lymphangiectasia-lymphedema syndrome type 1]. 61
32472549 2020
14
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. 61
31633297 2020
15
An additional case of Hennekam lymphangiectasia-lymphedema syndrome caused by loss-of-function mutation in ADAMTS3. 61
30450763 2018
16
Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1. 61
30564329 2018
17
Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3. 61
28985353 2017
18
Neuron-specific knockdown of the Drosophila fat induces reduction of life span, deficient locomotive ability, shortening of motoneuron terminal branches and defects in axonal targeting. 61
28488382 2017
19
Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome. 61
27345729 2016
20
CCBE1 enhances lymphangiogenesis via A disintegrin and metalloprotease with thrombospondin motifs-3-mediated vascular endothelial growth factor-C activation. 61
24552833 2014

Variations for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

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

6 (show top 50) (show all 229)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CCBE1 NM_133459.4(CCBE1):c.223T>A (p.Cys75Ser) SNV Pathogenic 445 rs121908250 GRCh37: 18:57147460-57147460
GRCh38: 18:59480228-59480228
2 CCBE1 NM_133459.4(CCBE1):c.305G>C (p.Cys102Ser) SNV Pathogenic 446 rs121908251 GRCh37: 18:57136800-57136800
GRCh38: 18:59469568-59469568
3 CCBE1 NM_133459.4(CCBE1):c.979G>C (p.Gly327Arg) SNV Pathogenic 447 rs121908252 GRCh37: 18:57105351-57105351
GRCh38: 18:59438119-59438119
4 CCBE1 NM_133459.4(CCBE1):c.683_684insT (p.Leu229fs) Insertion Pathogenic 448 rs563023244 GRCh37: 18:57115306-57115307
GRCh38: 18:59448074-59448075
5 CCBE1 NM_133459.4(CCBE1):c.520T>C (p.Cys174Arg) SNV Pathogenic 450 rs121908254 GRCh37: 18:57134004-57134004
GRCh38: 18:59466772-59466772
6 CCBE1 NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys) SNV Pathogenic 449 rs121908253 GRCh37: 18:57134052-57134052
GRCh38: 18:59466820-59466820
7 CCBE1 NM_133459.4(CCBE1):c.843A>T (p.Pro281=) SNV Conflicting interpretations of pathogenicity 735571 rs191592668 GRCh37: 18:57106981-57106981
GRCh38: 18:59439749-59439749
8 CCBE1 NM_133459.4(CCBE1):c.966G>A (p.Ala322=) SNV Conflicting interpretations of pathogenicity 811360 rs144169027 GRCh37: 18:57105364-57105364
GRCh38: 18:59438132-59438132
9 CCBE1 NM_133459.4(CCBE1):c.1052A>G (p.Glu351Gly) SNV Uncertain significance 888598 GRCh37: 18:57103309-57103309
GRCh38: 18:59436077-59436077
10 CCBE1 NM_133459.4(CCBE1):c.1036C>T (p.Arg346Cys) SNV Uncertain significance 888599 GRCh37: 18:57103325-57103325
GRCh38: 18:59436093-59436093
11 CCBE1 NM_133459.4(CCBE1):c.1017A>G (p.Leu339=) SNV Uncertain significance 720411 rs765502530 GRCh37: 18:57103344-57103344
GRCh38: 18:59436112-59436112
12 CCBE1 NM_133459.4(CCBE1):c.1003T>C (p.Phe335Leu) SNV Uncertain significance 888600 GRCh37: 18:57103358-57103358
GRCh38: 18:59436126-59436126
13 CCBE1 NM_133459.4(CCBE1):c.1000T>G (p.Ser334Ala) SNV Uncertain significance 888601 GRCh37: 18:57103361-57103361
GRCh38: 18:59436129-59436129
14 CCBE1 NM_133459.4(CCBE1):c.342T>C (p.Tyr114=) SNV Uncertain significance 888652 GRCh37: 18:57136763-57136763
GRCh38: 18:59469531-59469531
15 CCBE1 NM_133459.4(CCBE1):c.287C>G (p.Ala96Gly) SNV Uncertain significance 888653 GRCh37: 18:57136818-57136818
GRCh38: 18:59469586-59469586
16 CCBE1 NM_133459.4(CCBE1):c.259C>T (p.Pro87Ser) SNV Uncertain significance 888654 GRCh37: 18:57147424-57147424
GRCh38: 18:59480192-59480192
17 CCBE1 NM_133459.4(CCBE1):c.171C>T (p.Tyr57=) SNV Uncertain significance 888655 GRCh37: 18:57363902-57363902
GRCh38: 18:59696670-59696670
18 CCBE1 NM_133459.4(CCBE1):c.131+10G>A SNV Uncertain significance 888656 GRCh37: 18:57364434-57364434
GRCh38: 18:59697202-59697202
19 CCBE1 NM_133459.4(CCBE1):c.*4282G>A SNV Uncertain significance 889420 GRCh37: 18:57098858-57098858
GRCh38: 18:59431626-59431626
20 CCBE1 NM_133459.4(CCBE1):c.*4215A>T SNV Uncertain significance 889421 GRCh37: 18:57098925-57098925
GRCh38: 18:59431693-59431693
21 CCBE1 NM_133459.4(CCBE1):c.*4173A>G SNV Uncertain significance 889422 GRCh37: 18:57098967-57098967
GRCh38: 18:59431735-59431735
22 CCBE1 NM_133459.4(CCBE1):c.*3147T>C SNV Uncertain significance 889482 GRCh37: 18:57099993-57099993
GRCh38: 18:59432761-59432761
23 CCBE1 NM_133459.4(CCBE1):c.*2953C>A SNV Uncertain significance 889483 GRCh37: 18:57100187-57100187
GRCh38: 18:59432955-59432955
24 CCBE1 NM_133459.4(CCBE1):c.*2121C>T SNV Uncertain significance 889544 GRCh37: 18:57101019-57101019
GRCh38: 18:59433787-59433787
25 CCBE1 NM_133459.4(CCBE1):c.*1190C>T SNV Uncertain significance 889608 GRCh37: 18:57101950-57101950
GRCh38: 18:59434718-59434718
26 CCBE1 NM_133459.4(CCBE1):c.*1021T>A SNV Uncertain significance 889609 GRCh37: 18:57102119-57102119
GRCh38: 18:59434887-59434887
27 CCBE1 NM_133459.4(CCBE1):c.*938G>T SNV Uncertain significance 889610 GRCh37: 18:57102202-57102202
GRCh38: 18:59434970-59434970
28 CCBE1 NM_133459.4(CCBE1):c.*1725G>A SNV Uncertain significance 327667 rs886054064 GRCh37: 18:57101415-57101415
GRCh38: 18:59434183-59434183
29 CCBE1 NM_133459.4(CCBE1):c.*1933del Deletion Uncertain significance 327664 rs886054061 GRCh37: 18:57101207-57101207
GRCh38: 18:59433975-59433975
30 CCBE1 NM_133459.4(CCBE1):c.*3788T>A SNV Uncertain significance 327604 rs886054042 GRCh37: 18:57099352-57099352
GRCh38: 18:59432120-59432120
31 CCBE1 NM_133459.4(CCBE1):c.*3893C>T SNV Uncertain significance 327601 rs192002000 GRCh37: 18:57099247-57099247
GRCh38: 18:59432015-59432015
32 CCBE1 NM_133459.4(CCBE1):c.1058A>G (p.Gln353Arg) SNV Uncertain significance 327703 rs192224843 GRCh37: 18:57103303-57103303
GRCh38: 18:59436071-59436071
33 CCBE1 NM_133459.4(CCBE1):c.*645T>C SNV Uncertain significance 327687 rs886054070 GRCh37: 18:57102495-57102495
GRCh38: 18:59435263-59435263
34 CCBE1 NM_133459.4(CCBE1):c.*2903G>C SNV Uncertain significance 327624 rs181044048 GRCh37: 18:57100237-57100237
GRCh38: 18:59433005-59433005
35 CCBE1 NM_133459.4(CCBE1):c.*803C>G SNV Uncertain significance 327684 rs755405287 GRCh37: 18:57102337-57102337
GRCh38: 18:59435105-59435105
36 CCBE1 NM_133459.4(CCBE1):c.*2210T>C SNV Uncertain significance 327647 rs886054054 GRCh37: 18:57100930-57100930
GRCh38: 18:59433698-59433698
37 CCBE1 NM_133459.4(CCBE1):c.*4940A>T SNV Uncertain significance 327584 rs374031151 GRCh37: 18:57098200-57098200
GRCh38: 18:59430968-59430968
38 CCBE1 NM_133459.4(CCBE1):c.*2297_*2298insT Insertion Uncertain significance 327644 rs886054053 GRCh37: 18:57100842-57100843
GRCh38: 18:59433610-59433611
39 FAT4 NM_024582.4(FAT4):c.913A>T (p.Ile305Phe) SNV Uncertain significance 523012 rs1553958385 GRCh37: 4:126238479-126238479
GRCh38: 4:125317324-125317324
40 FAT4 NM_024582.4(FAT4):c.13393G>A (p.Val4465Met) SNV Uncertain significance 587591 rs1215405311 GRCh37: 4:126411370-126411370
GRCh38: 4:125490215-125490215
41 CCBE1 NM_133459.4(CCBE1):c.260C>A (p.Pro87Gln) SNV Uncertain significance 625905 rs756973760 GRCh37: 18:57147423-57147423
GRCh38: 18:59480191-59480191
42 CCBE1 NM_133459.4(CCBE1):c.*1991_*1994del Deletion Uncertain significance 327660 rs886054060 GRCh37: 18:57101146-57101149
GRCh38: 18:59433914-59433917
43 CCBE1 NM_133459.4(CCBE1):c.1157G>C (p.Gly386Ala) SNV Uncertain significance 327702 rs766519876 GRCh37: 18:57103204-57103204
GRCh38: 18:59435972-59435972
44 CCBE1 NM_133459.4(CCBE1):c.*2299T>A SNV Uncertain significance 327643 rs886054052 GRCh37: 18:57100841-57100841
GRCh38: 18:59433609-59433609
45 CCBE1 NM_133459.4(CCBE1):c.*739A>T SNV Uncertain significance 327686 rs886054069 GRCh37: 18:57102401-57102401
GRCh38: 18:59435169-59435169
46 CCBE1 NM_133459.4(CCBE1):c.*2912G>T SNV Uncertain significance 327623 rs559362654 GRCh37: 18:57100228-57100228
GRCh38: 18:59432996-59432996
47 CCBE1 NM_133459.4(CCBE1):c.*2058G>A SNV Uncertain significance 327652 rs886054055 GRCh37: 18:57101082-57101082
GRCh38: 18:59433850-59433850
48 CCBE1 NM_133459.4(CCBE1):c.*1655T>A SNV Uncertain significance 327669 rs187649543 GRCh37: 18:57101485-57101485
GRCh38: 18:59434253-59434253
49 CCBE1 NM_133459.4(CCBE1):c.-30G>C SNV Uncertain significance 327711 rs777317997 GRCh37: 18:57364604-57364604
GRCh38: 18:59697372-59697372
50 CCBE1 NM_133459.4(CCBE1):c.*261T>C SNV Uncertain significance 327695 rs886054072 GRCh37: 18:57102879-57102879
GRCh38: 18:59435647-59435647

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

72
# 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

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

Pathways related to Hennekam Lymphangiectasia-Lymphedema Syndrome 1 according to KEGG:

36
# Name Kegg Source Accession
1 Hippo signaling pathway - multiple species hsa04392

GO Terms for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 8.62 FAT4 CCBE1

Sources for Hennekam Lymphangiectasia-Lymphedema Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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