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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 ..Macrothrombocytopenia progressive deafness (C537831)
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:

6674

Name:

Macrothrombocytopenia progressive deafness

Definition:

Alternative IDs:

OMIM:600208

ParentIDs:

MESH:D006319|MESH:D013921

TreeNumbers:

C09.218.458.341.887/C537831 |C10.597.751.418.341.887/C537831 |C15.378.140.855/C537831 |C23.888.592.763.393.341.887/C537831

Synonyms:

Brodie Chole Griffin syndrome |Macrothrombocytopenia and Progressive Sensorineural Deafness

Slim Mappings:

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

Reference:

MedGen: C537831
MeSH: C537831
OMIM: 600208;

Genes: MYH9;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000478	Abnormality of the eye
3	HP:0000079	Abnormality of the urinary system
4	HP:0000978	Bruising susceptibility
5	HP:0001902	Giant platelets
6	HP:0040185	Macrothrombocytopenia
7	HP:0000408	Progressive sensorineural hearing impairment
8	HP:0003010	Prolonged bleeding time

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	Disease_hgmd
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