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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

Disease Browser
Parent Node: Hirschsprung Disease (D006627)
Parent Node: Waardenburg Syndrome (D014849)
..Starting node ..Waardenburg Syndrome, Type 4b (C567680)
Child Nodes:
Sister Nodes:
..ABCD syndrome (C535334)
..Anophthalmos with limb anomalies (C537769)
..Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
..Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome (C538657)
..Waardenburg syndrome type 2 (C536463)
..Waardenburg syndrome type 2A (C536464)
..Waardenburg syndrome type 2B (C536465)
..Waardenburg Syndrome, Type 2C (C564684)
..Waardenburg Syndrome, Type 2D (C563839)
..Waardenburg syndrome, type 4 (C536467) 1
..Waardenburg Syndrome, Type 4b (C567680)
..Waardenburg Syndrome, Type 4c (C567679)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11688

Name:

Waardenburg Syndrome, Type 4b

Definition:

Alternative IDs:

OMIM:613265

ParentIDs:

MESH:D006627|MESH:D014849

TreeNumbers:

C06.198.439/C567680 |C06.405.469.158.701.439/C567680 |C16.131.077.938/C567680 |C16.131.314.439/C567680

Synonyms:

Waardenburg Syndrome, Type 4b, With Hirschsprung Disease |Waardenburg Syndrome, Type Ivb |WS4B

Slim Mappings:

Congenital abnormality|Digestive system disease

Reference:

MedGen: C567680
MeSH: C567680
OMIM: 613265;

Genes: EDN3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0002251	Aganglionic megacolon
4	HP:0000635	Blue irides
5	HP:0001100	Heterochromia iridis
6	HP:0001425	Heterogeneous
7	HP:0001053	Hypopigmented skin patches
8	HP:0002216	Premature graying of hair
9	HP:0000407	Sensorineural hearing impairment
10	HP:0002226	White eyebrow
11	HP:0002227	White eyelashes
12	HP:0002211	White forelock

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_207034.2(EDN3):c.277C>G (p.Arg93Gly)	1908	EDN3	Pathogenic	267606779	RCV000018131;	N	MedGen:C2750457,OMIM:613265	20	57876689	57876689	NM_207034.2:c.277C>G	NP_996917.1:p.Arg93Gly	NC_000020.10:g.57876689C>G	OMIM Allelic Variant:131242.0009	C2750457 613265 Waardenburg syndrome type 4B
NM_207034.2(EDN3):c.335A>G (p.His112Arg)	1908	EDN3	Pathogenic	267606778	RCV000018130;	N	MedGen:C2750457,OMIM:613265	20	57876747	57876747	NM_207034.2:c.335A>G	NP_996917.1:p.His112Arg	NC_000020.10:g.57876747A>G	OMIM Allelic Variant:131242.0008	C2750457 613265 Waardenburg syndrome type 4B
NM_207034.2(EDN3):c.476G>T (p.Cys159Phe)	1908	EDN3	Pathogenic	74315384	RCV000018124;	N	MedGen:C2750457,OMIM:613265	20	57896182	57896182	NM_207034.2:c.476G>T	NP_996917.1:p.Cys159Phe	NC_000020.10:g.57896182G>T	OMIM Allelic Variant:131242.0002	C2750457 613265 Waardenburg syndrome type 4B
NM_207034.2(EDN3):c.507C>A (p.Cys169Ter)	1908	EDN3	Pathogenic	74315385	RCV000018129;	N	MedGen:C2750457,OMIM:613265	20	57896213	57896213	NM_207034.2:c.507C>A	NP_996917.1:p.Cys169Ter	NC_000020.10:g.57896213C>A	OMIM Allelic Variant:131242.0007	C2750457 613265 Waardenburg syndrome type 4B