Peters plus syndrome

Summary
Synonym
  • Krause-Kivlin syndrome
  • Peters anomaly-short limb dwarfism syndrome
  • Peters-plus syndrome
Definition
A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability.
Super Class
syndrome
External Links
Disease Ontology
DOID:0080201
Mondo Disease Ontology
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
8708 B3GALT1 beta-1,3-galactosyltransferase 1
23275 POFUT2 protein O-fucosyltransferase 2
145173 B3GLCT beta 3-glucosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
381694 B3glct beta-3-glucosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
689765 B3glct beta 3-glucosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
33844 CG9109 uncharacterized protein
Displaying all 2 entries
Gene ID Gene Symbol Description Source
564156 b3glctb beta 3-glucosyltransferase b
799443 b3glcta beta 3-glucosyltransferase a
Displaying all 3 entries
Gene ID Gene Symbol Description Source Organism
780006 b3glct beta 3-glucosyltransferase Xenopus tropicalis (tropical clawed frog)
100127336 b3glct.L beta 3-glucosyltransferase L homeolog Xenopus laevis (African clawed frog)
108709947 b3glct.S beta 3-glucosyltransferase S homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
178968 ZC250.2 N-acetylgalactosaminide beta-1,3-galactosyltransferase
The Human Phenotype Ontology
Displaying entries 81 - 90 of 134 in total
HPO ID HPO Term
HP:0011220 Prominent forehead
HP:0012745 Short palpebral fissure
HP:0100819 Intestinal fistula
HP:0000007 Autosomal recessive inheritance
HP:0000059 Hypoplastic labia majora
HP:0000089 Renal hypoplasia
HP:0000200 Short lingual frenulum
HP:0000233 Thin vermilion border
HP:0000256 Macrocephaly
HP:0000260 Wide anterior fontanel
Displaying 1 entry
Gene ID Gene Symbol Description
145173 B3GLCT beta 3-glucosyltransferase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024