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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: Waardenburg Syndrome (D014849)
..Starting node ..Waardenburg syndrome type 2A (C536464)
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:

11682

Name:

Waardenburg syndrome type 2A

Definition:

Alternative IDs:

OMIM:193510

ParentIDs:

MESH:D014849

TreeNumbers:

C16.131.077.938/C536464

Synonyms:

Waardenburg Syndrome, Type 2A |Waardenburg Syndrome, Type IIA |Waardenburg Syndrome Without Dystopia Canthorum |WS2 |WS2A

Slim Mappings:

Congenital abnormality

Reference:

MedGen: C536464
MeSH: C536464
OMIM: 193510;

Genes: MITF;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001022	Albinism
3	HP:0008527	Congenital sensorineural hearing impairment
4	HP:0001100	Heterochromia iridis
5	HP:0001425	Heterogeneous
6	HP:0007990	Hypoplastic iris stroma
7	HP:0007443	Partial albinism
8	HP:0002216	Premature graying of hair
9	HP:0000664	Synophrys
10	HP:0000430	Underdeveloped nasal alae
11	HP:0003828	Variable expressivity
12	HP:0002226	White eyebrow
13	HP:0002227	White eyelashes
14	HP:0002211	White forelock
15	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_198159.2(MITF):c.943C>T (p.Arg315Ter)	4286	MITF	Pathogenic	104893746	RCV000015346;	N	MedGen:C1860339,OMIM:193510	3	70005611	70005611	NM_198159.2:c.943C>T	NP_937802.1:p.Arg315Ter	NC_000003.11:g.70005611C>T	OMIM Allelic Variant:156845.0007	C1860339 193510 Waardenburg syndrome type 2A
NM_198159.2(MITF):c.1051T>C (p.Ser351Pro)	4286	MITF	Pathogenic	104893744	RCV000015343;	N	MedGen:C1860339,OMIM:193510	3	70008461	70008461	NM_198159.2:c.1051T>C	NP_937802.1:p.Ser351Pro	NC_000003.11:g.70008461T>C	OMIM Allelic Variant:156845.0004	C1860339 193510 Waardenburg syndrome type 2A
NM_198159.2(MITF):c.1195T>C (p.Ser399Pro)	4286	MITF	Pathogenic	104893747	RCV000015347;	N	MedGen:C1860339,OMIM:193510	3	70014031	70014031	NM_198159.2:c.1195T>C	NP_937802.1:p.Ser399Pro	NC_000003.11:g.70014031T>C	OMIM Allelic Variant:156845.0008	C1860339 193510 Waardenburg syndrome type 2A