ZFIN Human Disease: high molecular weight kininogen deficiency

OBO ID: DOID:0111676

Term Name:	high molecular weight kininogen deficiency		Search Ontology:
Synonyms:	congenital high-molecular-weight kininogen deficiency Fitzgerald trait HMWK deficiency
Definition:	A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in the KNG1 gene on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by the KNG1 gene. (2)
References:	GARD:2684 MESH:C537060 NCI:C98946 OMIM:228960 ORDO:483 SNOMEDCT_US_2023_03_01:27312002 UMLS_CUI:C0272340
Ontology:	Human Disease ( DOID:0111676 )

Relationships

is a type of:	autosomal recessive disease blood coagulation disease autosomal recessive disease blood coagulation disease Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
KNG1	kng1	[High molecular weight kininogen deficiency]	228960
		[Kininogen deficiency]	228960

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None