KEGG DISEASE: Shashi-Pena syndrome

KEGG

DISEASE: Shashi-Pena syndrome

Entry

H02855                      Disease

Name

Shashi-Pena syndrome

Supergrp

Neurodevelopmental disorder with histone modification defect [DS:H02803]
Neurodevelopmental disorder with dysmorphic facies [DS:H02535]
Syndromic neurodevelopmental disorder [DS:H02459]

Description

Shashi-Pena syndrome (SHAPNS) is characterized by distinctive facial features accompanied by variable further clinical findings. Dental anomalies may include early eruption and loss of teeth as well as small and fragile teeth. Most affected individuals have infantile hypotonia. Macrosomia and macrocephaly are also common. Affected individuals can have variable developmental delay. It has been reported that mutations in ASXL2 cause this syndrome. ASXL2 is one of three Polycomb group protein genes that act as histone methyltransferases and are implicated in embryogenesis. ASXL2 has been reported to regulate skeletal, lipid, and glucose homeostasis and cardiac development.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02855  Shashi-Pena syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06523  Epigenetic regulation by Polycomb complexes
   H02855  Shashi-Pena syndrome

Network

nt06523 Epigenetic regulation by Polycomb complexes

Gene

ASXL2 [HSA:55252] [KO:K11471]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM, Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkila S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortum F

Title

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

Journal

Am J Hum Genet 99:991-999 (2016)
DOI:10.1016/j.ajhg.2016.08.017

Reference

Authors

Izawa T, Rohatgi N, Fukunaga T, Wang QT, Silva MJ, Gardner MJ, McDaniel ML, Abumrad NA, Semenkovich CF, Teitelbaum SL, Zou W

Title

ASXL2 Regulates Glucose, Lipid, and Skeletal Homeostasis.

Journal

Cell Rep 11:1625-37 (2015)
DOI:10.1016/j.celrep.2015.05.019

Reference

Authors

Porter JM, Pena LDM, Spillmann RC, Johnson A, Shashi V

Title

Shashi-Pena Syndrome.

Journal

GeneReviews(1993)

LinkDB

» Japanese version

DBGET integrated database retrieval system