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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: Hearing Loss, Sensorineural (D006319)
Parent Node: Thrombocytopenia (D013921)
..Starting node ..MYH9-Related Disorders (C535507)
Child Nodes:
Sister Nodes:
..Absent radii and thrombocytopenia (C536940)
..Acquired pure megakaryocytic aplasia (C538176)
..Congenital amegakaryocytic thrombocytopenia (C535982)
..Congenital disorder of glycosylation type 1X (C535751)
..DK Phocomelia Syndrome (C565618)
..Dyserythropoietic Anemia with Thrombocytopenia (C564525)
..Evan's syndrome (C536380)
..FORSYTHE-WAKELING SYNDROME (OMIM:613606)
..Gardner Morrisson Abbot syndrome (C535643)
..Giant Platelet Syndrome with Thrombocytopenia (C564237)
..Glycoprotein IA Deficiency (C566000)
..Jacobsen Distal 11q Deletion Syndrome (D054868) 1
..Kasabach-Merritt Syndrome (D059885) 1
..Macrothrombocytopenia progressive deafness (C537831)
..Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related (C567747)
..Macrothrombocytopenia, X-Linked (C564526)
..MYH9-Related Disorders (C535507)
..Oculootoradial syndrome (C535544)
..Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension (C563478)
..Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia (C565328)
..Spastic Paraplegia And Evans Syndrome (C566652)
..Tetraphocomelia-Thrombocytopenia Syndrome (C564771)
..Thrombasthenia-Thrombocytopenia, Hereditary (C566060)
..Thrombocytopenia 1 (C564052)
..THROMBOCYTOPENIA 2 (OMIM:188000)
..Thrombocytopenia 3 (C567487)
..Thrombocytopenia 4 (C567438)
..Thrombocytopenia absent ulnar syndrome (C536944)
..Thrombocytopenia chromosome breakage (C536519)
..Thrombocytopenia Robin sequence (C536898)
..Thrombocytopenia with Elevated Serum Iga and Renal Disease (C564051)
..Thrombocytopenia, cyclic (C536899)
..Thrombocytopenia, Neonatal Alloimmune (D054098)
..Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis (C564050)
..Thrombocytopenia, X-Linked, Intermittent (C564053)
..THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA (OMIM:300367)
..Thrombotic Microangiopathies (D057049) 9
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7627

Name:

MYH9-Related Disorders

Definition:

Alternative IDs:

OMIM:153640|OMIM:153650|OMIM:155100|OMIM:605249

ParentIDs:

MESH:D006319|MESH:D013921

TreeNumbers:

C09.218.458.341.887/C535507 |C10.597.751.418.341.887/C535507 |C15.378.140.855/C535507 |C23.888.592.763.393.341.887/C535507

Synonyms:

Slim Mappings:

Blood disease|Ear-nose-throat disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C535507
MeSH: C535507
OMIM: 153640;

Genes: MYH9;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000978	Bruising susceptibility
3	HP:0000519	Developmental cataract
4	HP:0001902	Giant platelets
5	HP:0000790	Hematuria
6	HP:0001757	High-frequency sensorineural hearing impairment
7	HP:0001757	High-frequency sensorineural hearing impairment	HP:0040284
8	HP:0040235	Leukocyte inclusion bodies
9	HP:0000132	Menorrhagia
10	HP:0000123	Nephritis
11	HP:0008264	Neutrophil inclusion bodies
12	HP:0003010	Prolonged bleeding time
13	HP:0000093	Proteinuria
14	HP:0003774	Stage 5 chronic kidney disease
15	HP:0001873	Thrombocytopenia

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_002473.5(MYH9):c.5797C>T (p.Arg1933Ter)	4627	MYH9	Pathogenic	80338835	RCV000015116; RCV000015117; RCV000015118; RCV000032227;	N	MedGen:C0340978,OMIM:155100; MedGen:C0403445,OMIM:153640,SNOMED CT:236422008; MedGen:C1854520,OMIM:605249; MedGen:CN073381	22	36678800	36678800	NM_002473.5:c.5797C>T	NP_002464.1:p.Arg1933Ter	NC_000022.10:g.36678800G>A	OMIM Allelic Variant:160775.0001	C0403445 153640 Fechtner syndrome; C0340978 155100 May-Hegglin anomaly; CN073381 MYH9 related disorders; C1854520 605249 Sebastian syndrome
NM_002473.5(MYH9):c.5521G>A (p.Glu1841Lys)	4627	MYH9	Pathogenic	80338834	RCV000015119; RCV000015120; RCV000032226;	N	MedGen:C0340978,OMIM:155100; MedGen:C0403445,OMIM:153640,SNOMED CT:236422008; MedGen:CN073381	22	36680520	36680520	NM_002473.5:c.5521G>A	NP_002464.1:p.Glu1841Lys	NC_000022.10:g.36680520C>T	OMIM Allelic Variant:160775.0002	C0403445 153640 Fechtner syndrome; C0340978 155100 May-Hegglin anomaly; CN073381 MYH9 related disorders
NM_002473.5(MYH9):c.4270G>C (p.Asp1424His)	4627	MYH9	Pathogenic	80338831	RCV000015123; RCV000032223;	N	MedGen:C0403445,OMIM:153640,SNOMED CT:236422008; MedGen:CN073381	22	36688106	36688106	NM_002473.5:c.4270G>C	NP_002464.1:p.Asp1424His	NC_000022.10:g.36688106C>A,NC_000022.10:g.36688106C>G,NC_000022.10:g.36688106C>T	OMIM Allelic Variant:160775.0005	C0403445 153640 Fechtner syndrome; CN073381 MYH9 related disorders
NM_002473.5(MYH9):c.4270G>A (p.Asp1424Asn)	4627	MYH9	Pathogenic	80338831	RCV000015134; RCV000015135; RCV000015137; RCV000015136; RCV000032222;	N	MedGen:C0340978,OMIM:155100; MedGen:C0403445,OMIM:153640,SNOMED CT:236422008; MedGen:C1834478,OMIM:600208,ORPHA:182050; MedGen:C1854520,OMIM:605249; MedGen:CN073381	22	36688106	36688106	NM_002473.5:c.4270G>A	NP_002464.1:p.Asp1424Asn	NC_000022.10:g.36688106C>A,NC_000022.10:g.36688106C>G,NC_000022.10:g.36688106C>T	OMIM Allelic Variant:160775.0010	C0403445 153640 Fechtner syndrome; C1834478 600208 Macrothrombocytopenia and progressive sensorineural deafness; C0340978 155100 May-Hegglin anomaly; CN073381 MYH9 related disorders; C1854520 605249 Sebastian syndrome
NM_002473.5(MYH9):c.3464C>T (p.Thr1155Ile)	4627	MYH9	Pathogenic	121913656	RCV000015124; RCV000015125;	N	MedGen:C0340978,OMIM:155100; MedGen:C0403445,OMIM:153640,SNOMED CT:236422008	22	36691572	36691572	NM_002473.5:c.3464C>T	NP_002464.1:p.Thr1155Ile	NC_000022.10:g.36691572G>A	OMIM Allelic Variant:160775.0007	C0403445 153640 Fechtner syndrome; C0340978 155100 May-Hegglin anomaly
NM_002473.5(MYH9):c.2105G>A (p.Arg702His)	4627	MYH9	Pathogenic	80338827	RCV000015132; RCV000015133; RCV000032217;	N	MedGen:C0398641,OMIM:153650,SNOMED CT:234485006; MedGen:C0403445,OMIM:153640,SNOMED CT:236422008; MedGen:CN073381	22	36702030	36702030	NM_002473.5:c.2105G>A	NP_002464.1:p.Arg702His	NC_000022.10:g.36702030C>T	OMIM Allelic Variant:160775.0009	C0398641 153650 Epstein syndrome; C0403445 153640 Fechtner syndrome; CN073381 MYH9 related disorders
NM_002473.5(MYH9):c.2104C>T (p.Arg702Cys)	4627	MYH9	Pathogenic	80338826	RCV000015129; RCV000015126; RCV000015128; RCV000015127; RCV000032216;	N	MedGen:C0340978,OMIM:155100; MedGen:C0398641,OMIM:153650,SNOMED CT:234485006; MedGen:C0403445,OMIM:153640,SNOMED CT:236422008; MedGen:C1854520,OMIM:605249; MedGen:CN073381	22	36702031	36702031	NM_002473.5:c.2104C>T	NP_002464.1:p.Arg702Cys	NC_000022.10:g.36702031G>A	OMIM Allelic Variant:160775.0006	C0398641 153650 Epstein syndrome; C0403445 153640 Fechtner syndrome; C0340978 155100 May-Hegglin anomaly; CN073381 MYH9 related disorders; C1854520 605249 Sebastian syndrome