Details of Disease | DrugMAP

General Information of Disease (ID: DISO56WE)

Disease Name	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Synonyms	GPI deficiency; glycosylphosphatidylinositol deficiency; glycosylphosphatidylinositol biosynthesis defect 1; congenital disorder of glycosylation due to PIGM deficiency; GPID; PIGM-CDG
Definition	The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.
Disease Hierarchy	DISAWDAB: Congenital hematological disorder DIS1DL2M: Inherited blood coagulation disorder DISOXMGQ: Inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation DISO56WE: Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Disease Identifiers	MONDO ID MONDO_0012465 UMLS CUI C5201145 OMIM ID 610293 MedGen ID 1684821 Orphanet ID 83639

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PIGW	OTT9SMTF	Supportive	Autosomal recessive	[1]
PIGM	OTY98K40	Moderate	Autosomal recessive	[2]
PIGY	OTI3B2HB	Strong	Autosomal recessive	[3]
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References

1	A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia. Am J Med Genet A. 2016 Dec;170(12):3319-3322. doi: 10.1002/ajmg.a.37950. Epub 2016 Sep 14.
2	Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation. Mol Genet Metab. 2019 Sep-Oct;128(1-2):151-161. doi: 10.1016/j.ymgme.2019.08.003. Epub 2019 Aug 14.
3	Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies. Hum Mol Genet. 2015 Nov 1;24(21):6146-59. doi: 10.1093/hmg/ddv331. Epub 2015 Aug 20.