Details of Disease | DrugMAP

General Information of Disease (ID: DISIUM7O)

Disease Name	Peters plus syndrome
Synonyms	Peters anomaly with short-limb dwarfism; Peters anomaly with short limb dwarfism; Krause-Kivlin syndrome; Peters anomaly-short limb dwarfism syndrome; Peters-plus syndrome; Krause-van Schooneveld-Kivlin syndrome
Definition	An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.
Disease Hierarchy	DISB52BH: Eye disorder DIS6SVEE: Syndromic disease DISTBQZF: Disorder of fucoglycosan synthesis DISMT2VZ: Cardiogenetic disease DISMFQKM: Developmental anomaly of metabolic origin DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISIUM7O: Peters plus syndrome
Disease Identifiers	MONDO ID MONDO_0009856 MESH ID C537617 UMLS CUI C0796012 OMIM ID 261540 MedGen ID 163204 Orphanet ID 709 SNOMED CT ID 449817000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADAMTS20	OTU0EKLN	Strong	Biomarker	[1]
ADAMTS9	OTV3Q0DS	Strong	Biomarker	[1]
B3GALT1	OTWIRR5U	Strong	Biomarker	[2]
POFUT2	OT1MNJFZ	Strong	Genetic Variation	[3]
B3GLCT	OTXH6KOQ	Definitive	Autosomal recessive	[4]
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References

1	ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome.Hum Mol Genet. 2019 Dec 15;28(24):4053-4066. doi: 10.1093/hmg/ddz225.
2	Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet. 2006 Sep;79(3):562-6. doi: 10.1086/507567. Epub 2006 Jul 19.
3	Analyzing the Effects of O-Fucosylation on Secretion of ADAMTS Proteins Using Cell-Based Assays.Methods Mol Biol. 2020;2043:25-43. doi: 10.1007/978-1-4939-9698-8_3.
4	Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats. J Biol Chem. 2008 Mar 21;283(12):7354-60. doi: 10.1074/jbc.M710251200. Epub 2008 Jan 16.