Details of Disease | DrugMAP

General Information of Disease (ID: DISQJ9HK)

Disease Name	Hyperphosphatasia-intellectual disability syndrome
Synonyms	hyperphosphatasia with intellectual disability syndrome; hyperphosphatasia with mental retardation syndrome; HPMR; Mabry syndrome
Disease Hierarchy	DISPGGVL: Syndromic dyslipidemia DIS3LICD: Congenital limb malformation DISMFQKM: Developmental anomaly of metabolic origin DISOXMGQ: Inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation DISQJ9HK: Hyperphosphatasia-intellectual disability syndrome
Disease Identifiers	MONDO ID MONDO_0016596 MESH ID C565495 UMLS CUI C1855923 MedGen ID 383800 Orphanet ID 247262 SNOMED CT ID 33982008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PIGL	TTQA8DT	Supportive	Autosomal recessive	[1]
PIGL	TTQA8DT	Definitive	GermlineCausalMutation	[1]
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This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PGAP2	OTUW3SAX	Supportive	Autosomal recessive	[2]
PGAP3	OTH9A75E	Supportive	Autosomal recessive	[3]
PIGL	OTNAEAZ6	Supportive	Autosomal recessive	[1]
PIGO	OTGDOBO1	Supportive	Autosomal recessive	[4]
PIGV	OTI6LT46	Supportive	Autosomal recessive	[5]
PIGW	OTT9SMTF	Supportive	Autosomal recessive	[6]
PIGY	OTI3B2HB	Supportive	Autosomal recessive	[7]
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⏷ Show the Full List of 7 DOT(s)

References

1	Mutations in PIGL in a patient with Mabry syndrome. Am J Med Genet A. 2015 Apr;167A(4):777-85. doi: 10.1002/ajmg.a.36987. Epub 2015 Feb 23.
2	PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. Am J Hum Genet. 2013 Apr 4;92(4):584-9. doi: 10.1016/j.ajhg.2013.03.011.
3	Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation. Am J Hum Genet. 2014 Feb 6;94(2):278-87. doi: 10.1016/j.ajhg.2013.12.012. Epub 2014 Jan 16.
4	Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am J Hum Genet. 2012 Jul 13;91(1):146-51. doi: 10.1016/j.ajhg.2012.05.004. Epub 2012 Jun 7.
5	Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome. Eur J Hum Genet. 2014 Jun;22(6):762-7. doi: 10.1038/ejhg.2013.241. Epub 2013 Oct 16.
6	Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome. J Med Genet. 2014 Mar;51(3):203-7. doi: 10.1136/jmedgenet-2013-102156. Epub 2013 Dec 23.
7	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.