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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

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Disease Browser
Parent Node: Thrombocytopenia (D013921)
..Starting node ..Congenital amegakaryocytic thrombocytopenia (C535982)
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:

2597

Name:

Congenital amegakaryocytic thrombocytopenia

Definition:

Alternative IDs:

OMIM:604498

ParentIDs:

MESH:D013921

TreeNumbers:

C15.378.140.855/C535982

Synonyms:

Amegakaryocytic Thrombocytopenia, Congenital |CAMT

Slim Mappings:

Blood disease

Reference:

MedGen: C535982
MeSH: C535982
OMIM: 604498;

Genes: MPL;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0004859	Amegakaryocytic thrombocytopenia
3	HP:0001320	Cerebellar vermis hypoplasia
4	HP:0005548	Megakaryocytopenia
5	HP:0001876	Pancytopenia
6	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_005373.2(MPL):c.305G>C (p.Arg102Pro)	4352	MPL	Pathogenic	28928907	RCV000015221; RCV000121539;	N	MedGen:C1327915,OMIM:604498,ORPHA:3319; MedGen:CN169374	1	43804305	43804305	NM_005373.2:c.305G>C	NP_005364.1:p.Arg102Pro	NC_000001.10:g.43804305G>C	OMIM Allelic Variant:159530.0005	C1327915 604498 Congenital amegakaryocytic thrombocytopenia; CN169374 not specified
NM_005373.2(MPL):c.556C>T (p.Gln186Ter)	4352	MPL	Pathogenic	121913610	RCV000015217;	N	MedGen:C1327915,OMIM:604498,ORPHA:3319	1	43805106	43805106	NM_005373.2:c.556C>T	NP_005364.1:p.Gln186Ter	NC_000001.10:g.43805106C>T	OMIM Allelic Variant:159530.0001	C1327915 604498 Congenital amegakaryocytic thrombocytopenia
NM_005373.2(MPL):c.769C>T (p.Arg257Cys)	4352	MPL	Pathogenic	121913611	RCV000015219;	N	MedGen:C1327915,OMIM:604498,ORPHA:3319	1	43805713	43805713	NM_005373.2:c.769C>T	NP_005364.1:p.Arg257Cys	NC_000001.10:g.43805713C>T	OMIM Allelic Variant:159530.0003	C1327915 604498 Congenital amegakaryocytic thrombocytopenia
NM_005373.2(MPL):c.823C>A (p.Pro275Thr)	4352	MPL	Pathogenic	28928908	RCV000015224;	N	MedGen:C1327915,OMIM:604498,ORPHA:3319	1	43805767	43805767	NM_005373.2:c.823C>A	NP_005364.1:p.Pro275Thr	NC_000001.10:g.43805767C>A	OMIM Allelic Variant:159530.0008	C1327915 604498 Congenital amegakaryocytic thrombocytopenia
NM_005373.2(MPL):c.1473G>A (p.Trp491Ter)	4352	MPL	Pathogenic	121913613	RCV000015222;	N	MedGen:C1327915,OMIM:604498,ORPHA:3319	1	43814938	43814938	NM_005373.2:c.1473G>A	NP_005364.1:p.Trp491Ter	NC_000001.10:g.43814938G>A	OMIM Allelic Variant:159530.0006	C1327915 604498 Congenital amegakaryocytic thrombocytopenia
NM_005373.2(MPL):c.1904C>T (p.Pro635Leu)	4352	MPL	Pathogenic	121913612	RCV000015220;	N	MedGen:C1327915,OMIM:604498,ORPHA:3319	1	43818439	43818439	NM_005373.2:c.1904C>T	NP_005364.1:p.Pro635Leu	NC_000001.10:g.43818439C>T	OMIM Allelic Variant:159530.0004	C1327915 604498 Congenital amegakaryocytic thrombocytopenia