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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: Abnormalities, Multiple (D000015)
Parent Node: Ductus Arteriosus, Patent (D004374)
..Starting node ..Char syndrome (C566815)
Child Nodes:
Sister Nodes:
..Aortic aneurysm, familial thoracic 4 (C537784)
..Char syndrome (C566815)
..Gorlin Chaudhry Moss syndrome (C537290)
..Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth (C538341)
..Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies (C565782)
..Ramos Arroyo Clark syndrome (C535286)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2057

Name:

Char syndrome

Definition:

Alternative IDs:

OMIM:169100

ParentIDs:

MESH:D000015|MESH:D004374

TreeNumbers:

C14.240.400.340/C566815 |C14.280.400.340/C566815 |C16.131.077/C566815 |C16.131.240.400.340/C566815

Synonyms:

CHAR |Patent Ductus Arteriosus With Facial Dysmorphism And Abnormal Fifth Digits

Slim Mappings:

Cardiovascular disease|Congenital abnormality

Reference:

MedGen: C566815
MeSH: C566815
OMIM: 169100;

Genes: TFAP2B;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000337	Broad forehead
3	HP:0000455	Broad nasal tip
4	HP:0004209	Clinodactyly of the 5th finger
5	HP:0009244	Distal/middle symphalangism of 5th finger
6	HP:0001263	Global developmental delay
7	HP:0002553	Highly arched eyebrow
8	HP:0000316	Hypertelorism
9	HP:0001256	Intellectual disability, mild
10	HP:0000369	Low-set ears
11	HP:0025234	Parasomnia
12	HP:0001643	Patent ductus arteriosus
13	HP:0000411	Protruding ear
14	HP:0000508	Ptosis
15	HP:0000322	Short philtrum
16	HP:0000486	Strabismus
17	HP:0000574	Thick eyebrow
18	HP:0000207	Triangular mouth

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_000417.2(IL2RA):c.497G>A (p.Ser166Asn)	3559	IL2RA	Pathogenic	796051887	RCV000185641;	N	MedGen:C1853392,OMIM:606367,ORPHA:169100	10	6063527	6063527	NM_000417.2:c.497G>A	NP_000408.1:p.Ser166Asn	NC_000010.10:g.6063527C>T	OMIM Allelic Variant:147730.0006	C1868570 169100 Char syndrome; C1853392 606367 Interleukin 2 receptor, alpha, deficiency of
NM_000417.2(IL2RA):c.122A>C (p.Tyr41Ser)	3559	IL2RA	Pathogenic	796051888	RCV000185642;	N	MedGen:C1853392,OMIM:606367,ORPHA:169100	10	6067931	6067931	NM_000417.2:c.122A>C	NP_000408.1:p.Tyr41Ser	NC_000010.10:g.6067931T>G	OMIM Allelic Variant:147730.0007	C1868570 169100 Char syndrome; C1853392 606367 Interleukin 2 receptor, alpha, deficiency of
NM_003221.3(TFAP2B):c.218C>G (p.Pro73Arg)	7021	TFAP2B	Pathogenic	80338910	RCV000008510;	N	MedGen:C1868570,OMIM:169100,ORPHA:46627	6	50791256	50791256	NM_003221.3:c.218C>G	NP_003212.2:p.Pro73Arg	NC_000006.11:g.50791256C>G	OMIM Allelic Variant:601601.0006	C1868570 169100 Char syndrome
NM_003221.3(TFAP2B):c.444C>A (p.Asp148Glu)	7021	TFAP2B	Benign	13216733	RCV000020530;	N	MedGen:C1868570,OMIM:169100,ORPHA:46627	6	50791482	50791482	NM_003221.3:c.444C>A	NP_003212.2:p.Asp148Glu	NC_000006.11:g.50791482C>A	-	C1868570 169100 Char syndrome
NM_003221.3(TFAP2B):c.601+5G>A	7021	TFAP2B	Pathogenic	80338911	RCV000020531;	N	MedGen:C1868570,OMIM:169100,ORPHA:46627	6	50796397	50796397	NM_003221.3:c.601+5G>A		NC_000006.11:g.50796397G>A	-	C1868570 169100 Char syndrome
NM_003221.3(TFAP2B):c.706C>T (p.Arg236Cys)	7021	TFAP2B	Pathogenic	80338912	RCV000008507;	N	MedGen:C1868570,OMIM:169100,ORPHA:46627	6	50803878	50803878	NM_003221.3:c.706C>T	NP_003212.2:p.Arg236Cys	NC_000006.11:g.50803878C>A,NC_000006.11:g.50803878C>T	OMIM Allelic Variant:601601.0003	C1868570 169100 Char syndrome
NM_003221.3(TFAP2B):c.706C>A (p.Arg236Ser)	7021	TFAP2B	Pathogenic	80338912	RCV000008508;	N	MedGen:C1868570,OMIM:169100,ORPHA:46627	6	50803878	50803878	NM_003221.3:c.706C>A	NP_003212.2:p.Arg236Ser	NC_000006.11:g.50803878C>A,NC_000006.11:g.50803878C>T	OMIM Allelic Variant:601601.0004	C1868570 169100 Char syndrome
NM_003221.3(TFAP2B):c.772T>G (p.Ser258Ala)	7021	TFAP2B	Benign	2817394	RCV000020532;	N	MedGen:C1868570,OMIM:169100,ORPHA:46627	6	50803944	50803944	NM_003221.3:c.772T>G	NP_003212.2:p.Ser258Ala	NC_000006.11:g.50803944T>G	-	C1868570 169100 Char syndrome
NM_003221.3(TFAP2B):c.822-1G>C	7021	TFAP2B	Pathogenic	80338916	RCV000020533;	N	MedGen:C1868570,OMIM:169100,ORPHA:46627	6	50805687	50805687	NM_003221.3:c.822-1G>C		NC_000006.11:g.50805687G>C	-	C1868570 169100 Char syndrome
NM_003221.3(TFAP2B):c.824C>A (p.Ala275Asp)	7021	TFAP2B	Pathogenic	80338914	RCV000008505;	N	MedGen:C1868570,OMIM:169100,ORPHA:46627	6	50805690	50805690	NM_003221.3:c.824C>A	NP_003212.2:p.Ala275Asp	NC_000006.11:g.50805690C>A	OMIM Allelic Variant:601601.0001	C1868570 169100 Char syndrome
NM_003221.3(TFAP2B):c.854G>A (p.Arg285Gln)	7021	TFAP2B	Pathogenic	80338915	RCV000008509;	N	MedGen:C1868570,OMIM:169100,ORPHA:46627	6	50805720	50805720	NM_003221.3:c.854G>A	NP_003212.2:p.Arg285Gln	NC_000006.11:g.50805720G>A	OMIM Allelic Variant:601601.0005	C1868570 169100 Char syndrome
NM_003221.3(TFAP2B):c.898C>T (p.Arg300Cys)	7021	TFAP2B	Pathogenic	80338917	RCV000008506;	N	MedGen:C1868570,OMIM:169100,ORPHA:46627	6	50805764	50805764	NM_003221.3:c.898C>T	NP_003212.2:p.Arg300Cys	NC_000006.11:g.50805764C>T	OMIM Allelic Variant:601601.0002	C1868570 169100 Char syndrome