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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: Blood Coagulation Disorders, Inherited (D025861)
Parent Node: Coagulation Protein Disorders (D020147)
Parent Node: Hemorrhagic Disorders (D006474)
..Starting node ..Factor X Deficiency (D005171)
Child Nodes:
Sister Nodes:
..Afibrinogenemia (D000347) 3
..Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells (C538539)
..Anti-plasmin deficiency, congenital (C537777)
..Antithrombin, Familial Hemorrhagic Diathesis due to (C565947)
..Bernard-Soulier Syndrome (D001606) 5
..Disseminated Intravascular Coagulation (D004211)
..Factor V Deficiency (D005166) 4
..Factor VII Deficiency (D005168)
..Factor X Deficiency (D005171)
..Factor XI Deficiency (D005173)
..Factor XII Deficiency (D005175)
..Factor XIII Deficiency (D005177) 2
..Hemophilia A (D006467) 5
..Hemophilia B (D002836)
..HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
..Hemostatic Disorders (D020141) 48
..Hypoprothrombinemias (D007020) 2
..Plasminogen Activator Inhibitor-1 Deficiency (C567640)
..Platelet Storage Pool Deficiency (D010981) 5
..Purpura, Thrombocytopenic, Idiopathic (D016553)
..Thrombasthenia (D013915) 3
..Thrombocythemia, Essential (D013920)
..Vitamin K Deficiency (D014813) 1
..von Willebrand Diseases (D014842) 6
..Waterhouse-Friderichsen Syndrome (D014884) 1
..Wiskott-Aldrich Syndrome (D014923) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4104

Name:

Factor X Deficiency

Definition:

Blood coagulation disorder usually inherited as an autosomal recessive trait, though it can be acquired. It is characterized by defective activity in both the intrinsic and extrinsic pathways, impaired thromboplastin time, and impaired prothrombin consumption.

Alternative IDs:

OMIM:227600

ParentIDs:

MESH:D006474|MESH:D020147|MESH:D025861

TreeNumbers:

C15.378.100.100.320 |C15.378.100.141.320 |C15.378.463.320 |C16.320.099.320

Synonyms:

Slim Mappings:

Blood disease|Genetic disease (inborn)

Reference:

MedGen: D005171
MeSH: D005171
OMIM: 227600;

Genes: F10;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003011	Abnormality of the musculature
3	HP:0000421	Epistaxis
4	HP:0000225	Gingival bleeding
5	HP:0002170	Intracranial hemorrhage
6	HP:0012233	Intramuscular hematoma
7	HP:0005261	Joint hemorrhage
8	HP:0000132	Menorrhagia
9	HP:0003645	Prolonged partial thromboplastin time
10	HP:0008151	Prolonged prothrombin time
11	HP:0008321	Reduced factor X activity
12	HP:0003828	Variable expressivity

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_000504.3(F10):c.424G>A (p.Glu142Lys)	2159	F10	Pathogenic	61753266	RCV000012841;	N	MedGen:C0015519,OMIM:227600,SNOMED CT:76642003	13	113795286	113795286	NM_000504.3:c.424G>A	NP_000495.1:p.Glu142Lys	NC_000013.10:g.113795286G>A	OMIM Allelic Variant:613872.0007	C0015519 227600 Factor X deficiency
NM_000504.3(F10):c.813delC (p.Leu272Terfs)	2159	F10	Pathogenic	387906506	RCV000012834;	N	MedGen:C0015519,OMIM:227600,SNOMED CT:76642003	13	113801758	113801758	NM_000504.3:c.813delC	NP_000495.1:p.Leu272Terfs	NC_000013.10:g.113801758delC	OMIM Allelic Variant:613872.0002	C0015519 227600 Factor X deficiency
NM_000504.3(F10):c.859A>T (p.Arg287Trp)	2159	F10	Pathogenic	121964948	RCV000012839;	N	MedGen:C0015519,OMIM:227600,SNOMED CT:76642003	13	113801804	113801804	NM_000504.3:c.859A>T	NP_000495.1:p.Arg287Trp	NC_000013.10:g.113801804A>T	OMIM Allelic Variant:613872.0014	C0015519 227600 Factor X deficiency
NM_000504.3(F10):c.1096C>T (p.Arg366Cys)	2159	F10	Pathogenic	104894392	RCV000012833;	N	MedGen:C0015519,OMIM:227600,SNOMED CT:76642003	13	113803460	113803460	NM_000504.3:c.1096C>T	NP_000495.1:p.Arg366Cys	NC_000013.10:g.113803460C>T	OMIM Allelic Variant:613872.0001	C0015519 227600 Factor X deficiency