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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: Hirschsprung Disease (D006627)
Parent Node: Waardenburg Syndrome (D014849)
..Starting node ..Waardenburg Syndrome, Type 4c (C567679)
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:

11689

Name:

Waardenburg Syndrome, Type 4c

Definition:

Alternative IDs:

OMIM:613266

ParentIDs:

MESH:D006627|MESH:D014849

TreeNumbers:

C06.198.439/C567679 |C06.405.469.158.701.439/C567679 |C16.131.077.938/C567679 |C16.131.314.439/C567679

Synonyms:

WAARDENBURG SYNDROME, TYPE IVC |WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4C |Waardenburg Syndrome With Hirschsprung Disease, Type 4c Waardenburg Syndrome, Type Ivc |WS4C

Slim Mappings:

Congenital abnormality|Digestive system disease

Reference:

MedGen: C567679
MeSH: C567679
OMIM: 613266;

Genes: SOX10;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002251	Aganglionic megacolon
3	HP:0000458	Anosmia	HP:0040283
4	HP:0000635	Blue irides
5	HP:0000028	Cryptorchidism
6	HP:0001100	Heterochromia iridis
7	HP:0001425	Heterogeneous
8	HP:0000135	Hypogonadism
9	HP:0001053	Hypopigmented skin patches
10	HP:0007732	Lacrimal gland hypoplasia	HP:0040283
11	HP:0002216	Premature graying of hair
12	HP:0000407	Sensorineural hearing impairment
13	HP:0002226	White eyebrow
14	HP:0002227	White eyelashes
15	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_006941.3(SOX10):c.1129C>T (p.Gln377Ter)	-1	-	Pathogenic	74315520	RCV000007826; RCV000007827;	N	MedGen:C2750452,OMIM:613266; MedGen:CN069053	22	38369774	38369774	NM_006941.3:c.1129C>T	NP_008872.1:p.Gln377Ter	NC_000022.10:g.38369774G>A	OMIM Allelic Variant:602229.0010	CN069053 Waardenburg syndrome type 2E, with neurologic involvement; C2750452 613266 Waardenburg syndrome type 4C
NM_006941.3(SOX10):c.698-740_1085del1128insCCT	-1	-	Pathogenic	-1	RCV000007829;	N	MedGen:C2750452,OMIM:613266	22	38369818	38370945	NM_006941.3:c.698-740_1085del1128insCCT			OMIM Allelic Variant:602229.0012,dbVar:nssv3761608,dbVar:nsv1067867	C2750452 613266 Waardenburg syndrome type 4C
NM_006941.3(SOX10):c.1077_1078delGA (p.Glu359Aspfs)	-1	-	Pathogenic	397515367	RCV000007820;	N	MedGen:C2750452,OMIM:613266	22	38369825	38369826	NM_006941.3:c.1077_1078delGA	NP_008872.1:p.Glu359Aspfs	NC_000022.10:g.38369825_38369826delTC	OMIM Allelic Variant:602229.0004	C2750452 613266 Waardenburg syndrome type 4C
NM_006941.3(SOX10):c.621C>G (p.Tyr207Ter)	-1	-	Pathogenic	281797260	RCV000007825;	N	MedGen:C2750452,OMIM:613266	22	38373950	38373950	NM_006941.3:c.621C>G	NP_008872.1:p.Tyr207Ter	NC_000022.10:g.38373950G>C	OMIM Allelic Variant:602229.0009	C2750452 613266 Waardenburg syndrome type 4C
NM_006941.3(SOX10):c.565G>T (p.Glu189Ter)	-1	-	Pathogenic	74315514	RCV000007817;	N	MedGen:C2750452,OMIM:613266	22	38374006	38374006	NM_006941.3:c.565G>T	NP_008872.1:p.Glu189Ter	NC_000022.10:g.38374006C>A	OMIM Allelic Variant:602229.0001	C2750452 613266 Waardenburg syndrome type 4C
NM_006941.3(SOX10):c.482_483insGCTCCT (p.Arg161_Met162insLeuLeu)	-1	-	Pathogenic	397515366	RCV000007819;	N	MedGen:C2750452,OMIM:613266	22	38374088	38374089	NM_006941.3:c.482_483insGCTCCT	NP_008872.1:p.Arg161_Met162insLeuLeu	NC_000022.10:g.38374088_38374089insAGGAGC	OMIM Allelic Variant:602229.0003	C2750452 613266 Waardenburg syndrome type 4C
NM_006941.3(SOX10):c.470C>T (p.Ala157Val)	-1	-	Pathogenic	121909117	RCV000007833;	N	MedGen:C2750452,OMIM:613266	22	38374101	38374101	NM_006941.3:c.470C>T	NP_008872.1:p.Ala157Val	NC_000022.10:g.38374101G>A	OMIM Allelic Variant:602229.0016	C2750452 613266 Waardenburg syndrome type 4C
NM_006941.3(SOX10):c.271_275delCCCGT (p.Pro91Alafs)	-1	-	Likely pathogenic	483353057	RCV000119814;	N	MedGen:C2750452,OMIM:613266	22	38379517	38379521	NM_006941.3:c.271_275delCCCGT	NP_008872.1:p.Pro91Alafs	NC_000022.10:g.38379517_38379521delACGGG	-	C2750452 613266 Waardenburg syndrome type 4C
NM_006941.3(SOX10):c.249C>G (p.Tyr83Ter)	-1	-	Pathogenic	73415876	RCV000007818;	N	MedGen:C2750452,OMIM:613266	22	38379543	38379543	NM_006941.3:c.249C>G	NP_008872.1:p.Tyr83Ter	NC_000022.10:g.38379543G>C	OMIM Allelic Variant:602229.0002	C2750452 613266 Waardenburg syndrome type 4C