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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: Diseases (C)
Parent Node: Hirschsprung Disease (D006627)
Parent Node: Pigmentation Disorders (D010859)
Parent Node: Waardenburg syndrome, type 4 (C536467)
..Starting node ..WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
Child Nodes:
Sister Nodes:
..WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11687

Name:

WAARDENBURG SYNDROME, TYPE 4A

Definition:

Alternative IDs:

ParentIDs:

MESH:C536467|MESH:D006627|MESH:D010859

TreeNumbers:

C06.198.439/277580 |C06.405.469.158.701.439/277580 |C16.131.077.938/C536467/277580 |C16.131.314.439/277580 |C17.800.621/277580

Synonyms:

Slim Mappings:

Congenital abnormality|Digestive system disease|Skin disease

Reference:

MedGen: 277580
MeSH: 277580
OMIM: 277580;

Genes: EDNRB;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0002271	obsolete Autonomic dysregulation
4	HP:0002251	Aganglionic megacolon
5	HP:0001251	Ataxia
6	HP:0000635	Blue irides
7	HP:0001263	Global developmental delay
8	HP:0001100	Heterochromia iridis
9	HP:0001425	Heterogeneous
10	HP:0001053	Hypopigmented skin patches
11	HP:0001252	Hypotonia
12	HP:0002415	Leukodystrophy
13	HP:0000639	Nystagmus
14	HP:0001271	Polyneuropathy
15	HP:0002216	Premature graying of hair
16	HP:0000407	Sensorineural hearing impairment
17	HP:0002313	Spastic paraparesis
18	HP:0002226	White eyebrow
19	HP:0002227	White eyelashes
20	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_000115.3(EDNRB):c.828G>T (p.Trp276Cys)	-1	-	Pathogenic;risk factor	104894387	RCV000018112; RCV000018113;	N	MedGen:C1838564,OMIM:600155; MedGen:C1848519,OMIM:277580	13	78475316	78475316	NM_000115.3:c.828G>T	NP_000106.1:p.Trp276Cys	NC_000013.10:g.78475316C>A	OMIM Allelic Variant:131244.0001	C1838564 600155 Hirschsprung disease 2; C1848519 277580 Waardenburg syndrome type 4A
NM_000115.3(EDNRB):c.757C>T (p.Arg253Ter)	-1	-	Pathogenic	104894390	RCV000018119;	N	MedGen:C1848519,OMIM:277580	13	78477335	78477335	NM_000115.3:c.757C>T	NP_000106.1:p.Arg253Ter	NC_000013.10:g.78477335G>A	OMIM Allelic Variant:131244.0007	C1848519 277580 Waardenburg syndrome type 4A
NM_000115.3(EDNRB):c.548C>G (p.Ala183Gly)	-1	-	Pathogenic	104894388	RCV000018114;	N	MedGen:C1848519,OMIM:277580	13	78477678	78477678	NM_000115.3:c.548C>G	NP_000106.1:p.Ala183Gly	NC_000013.10:g.78477678G>C	OMIM Allelic Variant:131244.0002	C1848519 277580 Waardenburg syndrome type 4A