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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Thrombocytopenia (D013921)
..Starting node ..Thrombocytopenia 1 (C564052)
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:

10990

Name:

Thrombocytopenia 1

Definition:

Alternative IDs:

OMIM:313900

ParentIDs:

MESH:D013921|MESH:D040181

TreeNumbers:

C15.378.140.855/C564052 |C16.320.322/C564052

Synonyms:

THC |THC1 |Thrombocytopenia, X-Linked |Thrombocytopenia, X-Linked, 1 |THROMBOCYTOPENIA, X-LINKED, 1 THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, INCLUDED |X-Linked Thrombocytopenia |XLT

Slim Mappings:

Blood disease|Genetic disease (inborn)

Reference:

MedGen: C564052
MeSH: C564052
OMIM: 313900;

Genes: WAS;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0003011	Abnormality of the musculature
3	HP:0000978	Bruising susceptibility
4	HP:0001905	Congenital thrombocytopenia
5	HP:0005537	Decreased mean platelet volume
6	HP:0000964	Eczema
7	HP:0000421	Epistaxis
8	HP:0003261	Increased circulating IgA level
9	HP:0003212	Increased circulating IgE level
10	HP:0004854	Intermittent thrombocytopenia
11	HP:0005261	Joint hemorrhage
12	HP:0000967	Petechiae

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_000377.2(WAS):c.134C>T (p.Thr45Met)	7454	WAS	Pathogenic	132630273	RCV000011872;	N	MedGen:C1839163,OMIM:313900,ORPHA:852	X	48542673	48542673	NM_000377.2:c.134C>T	NP_000368.1:p.Thr45Met	NC_000023.10:g.48542673C>T	OMIM Allelic Variant:300392.0010	C1839163 313900 Thrombocytopenia, X-linked
NM_000377.2(WAS):c.167C>T (p.Ala56Val)	7454	WAS	Pathogenic	132630269	RCV000011865;	N	MedGen:C1839163,OMIM:313900,ORPHA:852	X	48542706	48542706	NM_000377.2:c.167C>T	NP_000368.1:p.Ala56Val	NC_000023.10:g.48542706C>T	OMIM Allelic Variant:300392.0004	C1839163 313900 Thrombocytopenia, X-linked
NM_000377.2(WAS):c.538C>A (p.His180Asn)	7454	WAS	Likely benign	145040665	RCV000030596; RCV000122270;	N	MedGen:C1839163,OMIM:313900,ORPHA:852; MedGen:CN169374	X	48544502	48544502	NM_000377.2:c.538C>A	NP_000368.1:p.His180Asn	NC_000023.10:g.48544502C>A	-	CN169374 not specified; C1839163 313900 Thrombocytopenia, X-linked
NM_000377.2(WAS):c.707C>G (p.Ala236Gly)	7454	WAS	Pathogenic	132630270	RCV000011866;	N	MedGen:C1839163,OMIM:313900,ORPHA:852	X	48545317	48545317	NM_000377.2:c.707C>G	NP_000368.1:p.Ala236Gly	NC_000023.10:g.48545317C>G	OMIM Allelic Variant:300392.0005	C1839163 313900 Thrombocytopenia, X-linked