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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Craniofacial Abnormalities (D019465)
Parent Node: Genital Diseases, Male (D005832)
Parent Node: Lymphangiectasis, Intestinal (D008201)
Parent Node: Lymphedema (D008209)
..Starting node ..Hennekam lymphangiectasia lymphedema syndrome (C537255)
Child Nodes:
Sister Nodes:
..Aagenaes syndrome (C535330)
..CHOANAL ATRESIA AND LYMPHEDEMA (OMIM:613611)
..Dahlberg Borer Newcomer syndrome (C535769)
..Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
..Elephantiasis (D004604)
..Elephantiasis, Filarial (D004605)
..German Syndrome (C562543)
..Hennekam lymphangiectasia lymphedema syndrome (C537255)
..Hypotrichosis-Lymphedema-Telangiectasia Syndrome (C564327)
..Irons Bhan syndrome (C535539)
..Lymphedema and Cerebral Arteriovenous Anomaly (C563612)
..Lymphedema distichiasis syndrome (C537710)
..Lymphedema, Cardiac Septal Defects, And Characteristic Facies (C567398)
..Lymphedema, Congenital Recessive (C565432)
..Lymphedema, Hereditary, IB (C567452)
..LYMPHEDEMA, HEREDITARY, IC (OMIM:613480)
..Lymphedema, Hereditary, II (C562467)
..Lymphedema, microcephaly and chorioretinopathy syndrome (C537711)
..Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus (C567188)
..Non-Filarial Lymphedema (D062846)
..Waldmann disease (C536567)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5070

Name:

Hennekam lymphangiectasia lymphedema syndrome

Definition:

Alternative IDs:

OMIM:235510

ParentIDs:

MESH:D005832|MESH:D008201|MESH:D008209|MESH:D019465

TreeNumbers:

C05.660.207/C537255 |C12.294/C537255 |C15.604.360.500/C537255 |C15.604.451.500/C537255 |C15.604.496/C537255 |C16.131.482.500/C537255 |C16.131.621.207/C537255

Synonyms:

Hennekam Lymphangiectasia-Lymphedema Syndrome |HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 |HKLLS1 |Lymphangiectasies and lymphedema Hennekam type |Lymphatic Dysplasia, Generalized

Slim Mappings:

Congenital abnormality|Lymphatic disease|Musculoskeletal disease|Urogenital disease (male)

Reference:

MedGen: C537255
MeSH: C537255
OMIM: 235510;

Genes: CCBE1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001631	Atrial septal defect
3	HP:0007598	Bilateral single transverse palmar creases
4	HP:0000337	Broad forehead
5	HP:0012385	Camptodactyly
6	HP:0000405	Conductive hearing impairment
7	HP:0011065	Conical incisor
8	HP:0004440	Coronal craniosynostosis
9	HP:0000028	Cryptorchidism
10	HP:0010554	Cutaneous finger syndactyly
11	HP:0000684	Delayed eruption of teeth
12	HP:0002750	Delayed skeletal maturation
13	HP:0005280	Depressed nasal bridge
14	HP:0000086	Ectopic kidney
15	HP:0000286	Epicanthus
16	HP:0001055	Erysipelas
17	HP:0012368	Flat face
18	HP:0000212	Gingival overgrowth
19	HP:0000501	Glaucoma
20	HP:0001007	Hirsutism
21	HP:0000085	Horseshoe kidney
22	HP:0000126	Hydronephrosis
23	HP:0000752	Hyperactivity
24	HP:0000316	Hypertelorism
25	HP:0003073	Hypoalbuminemia
26	HP:0002866	Hypoplastic iliac wing
27	HP:0001249	Intellectual disability
28	HP:0002593	Intestinal lymphangiectasia
29	HP:0009473	Joint contracture of the hand
30	HP:0000369	Low-set ears
31	HP:0001004	Lymphedema
32	HP:0000272	Malar flattening
33	HP:0001530	Mild postnatal growth retardation
34	HP:0000160	Narrow mouth
35	HP:0000189	Narrow palate
36	HP:0000677	Oligodontia
37	HP:0001302	Pachygyria
38	HP:0000767	Pectus excavatum
39	HP:0001698	Pericardial effusion
40	HP:0005183	Pericardial lymphangiectasia
41	HP:0100539	Periorbital edema
42	HP:0002202	Pleural effusion
43	HP:0006531	Pleural lymphangiectasia
44	HP:0002243	Protein-losing enteropathy
45	HP:0002035	Rectal prolapse
46	HP:0000278	Retrognathia
47	HP:0002650	Scoliosis
48	HP:0001250	Seizure
49	HP:0000407	Sensorineural hearing impairment
50	HP:0001773	Short foot
51	HP:0004279	Short palm
52	HP:0200055	Small hand
53	HP:0000319	Smooth philtrum
54	HP:0003298	Spina bifida occulta
55	HP:0001762	Talipes equinovarus
56	HP:0008229	Thyroid lymphangiectasia
57	HP:0001537	Umbilical hernia
58	HP:0001629	Ventricular septal defect
59	HP:0000076	Vesicoureteral reflux
60	HP:0000431	Wide nasal bridge

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_133459.3(CCBE1):c.979G>C (p.Gly327Arg)	147372	CCBE1	Pathogenic	121908252	RCV000000476;	N	MedGen:C0340834,OMIM:235510,ORPHA:2136,SNOMED CT:234146006	18	57105351	57105351	NM_133459.3:c.979G>C	NP_597716.1:p.Gly327Arg	NC_000018.9:g.57105351C>G	OMIM Allelic Variant:612753.0003,UniProtKB (variants):VAR_063750	C0340834 235510 Hennekam lymphangiectasia-lymphedema syndrome
NM_133459.3(CCBE1):c.683_684insT (p.Leu229Profs)	147372	CCBE1	Pathogenic	563023244	RCV000000477;	N	MedGen:C0340834,OMIM:235510,ORPHA:2136,SNOMED CT:234146006	18	57115306	57115307	NM_133459.3:c.683_684insT	NP_597716.1:p.Leu229Profs	NC_000018.9:g.57115306_57115307insA	OMIM Allelic Variant:612753.0004	C0340834 235510 Hennekam lymphangiectasia-lymphedema syndrome
NM_133459.3(CCBE1):c.520T>C (p.Cys174Arg)	147372	CCBE1	Pathogenic	121908254	RCV000000479;	N	MedGen:C0340834,OMIM:235510,ORPHA:2136,SNOMED CT:234146006	18	57134004	57134004	NM_133459.3:c.520T>C	NP_597716.1:p.Cys174Arg	NC_000018.9:g.57134004A>G	OMIM Allelic Variant:612753.0006,UniProtKB (variants):VAR_063749	C0340834 235510 Hennekam lymphangiectasia-lymphedema syndrome
NM_133459.3(CCBE1):c.472C>T (p.Arg158Cys)	147372	CCBE1	Pathogenic	121908253	RCV000000478;	N	MedGen:C0340834,OMIM:235510,ORPHA:2136,SNOMED CT:234146006	18	57134052	57134052	NM_133459.3:c.472C>T	NP_597716.1:p.Arg158Cys	NC_000018.9:g.57134052G>A	OMIM Allelic Variant:612753.0005,UniProtKB (variants):VAR_063748	C0340834 235510 Hennekam lymphangiectasia-lymphedema syndrome
NM_133459.3(CCBE1):c.305G>C (p.Cys102Ser)	147372	CCBE1	Pathogenic	121908251	RCV000000475;	N	MedGen:C0340834,OMIM:235510,ORPHA:2136,SNOMED CT:234146006	18	57136800	57136800	NM_133459.3:c.305G>C	NP_597716.1:p.Cys102Ser	NC_000018.9:g.57136800C>G	OMIM Allelic Variant:612753.0002,UniProtKB (variants):VAR_063747	C0340834 235510 Hennekam lymphangiectasia-lymphedema syndrome
NM_133459.3(CCBE1):c.223T>A (p.Cys75Ser)	147372	CCBE1	Pathogenic	121908250	RCV000000474;	N	MedGen:C0340834,OMIM:235510,ORPHA:2136,SNOMED CT:234146006	18	57147460	57147460	NM_133459.3:c.223T>A	NP_597716.1:p.Cys75Ser	NC_000018.9:g.57147460A>T	OMIM Allelic Variant:612753.0001,UniProtKB (variants):VAR_063746	C0340834 235510 Hennekam lymphangiectasia-lymphedema syndrome