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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: Blood Coagulation Disorders, Inherited (D025861)
Parent Node: Coagulation Protein Disorders (D020147)
Parent Node: Hemorrhagic Disorders (D006474)
..Starting node ..Factor XII Deficiency (D005175)
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:

4106

Name:

Factor XII Deficiency

Definition:

An absence or reduced level of blood coagulation factor XII. It normally occurs in the absence of patient or family history of hemorrhagic disorders and is marked by prolonged clotting time.

Alternative IDs:

OMIM:234000

ParentIDs:

MESH:D006474|MESH:D020147|MESH:D025861

TreeNumbers:

C15.378.100.100.330 |C15.378.100.141.330 |C15.378.463.330 |C16.320.099.330

Synonyms:

Slim Mappings:

Blood disease|Genetic disease (inborn)

Reference:

MedGen: D005175
MeSH: D005175
OMIM: 234000;

Genes: F12;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003645	Prolonged partial thromboplastin time
3	HP:0005542	Prolonged whole-blood clotting time
4	HP:0004841	Reduced factor XII activity

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_000505.3(F12):c.1681-1G>A	2161	F12	Pathogenic	199988476	RCV000001225;	N	MedGen:C0015526,OMIM:234000,ORPHA:330,SNOMED CT:46981006	5	176829461	176829461	NM_000505.3:c.1681-1G>A		NC_000005.9:g.176829461C>T	OMIM Allelic Variant:610619.0003	C0015526 234000 Factor XII deficiency disease