KEGG DISEASE: Preimplantation embryonic lethality

KEGG

DISEASE: Preimplantation embryonic lethality

Entry

H02335                      Disease

Name

Preimplantation embryonic lethality

Supergrp

Oocyte/zygote/embryo maturation arrest [DS:H01897]

Description

Preimplantation embryonic lethality (PREMBL), also known as early embryonic arrest, is one of the major causes of female infertility. Recently, a mutation in TLE6, which encodes a protein participating in the subcortical maternal complex (SCMC), was reported to cause this disease. The SCMC is composed of maternally expressed proteins and required for early embryonic cell division. Mutations in PADI6 have also been identified in individuals with PREMBL.

Category

Reproductive system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
16 Diseases of the genitourinary system
  Diseases of the female genital system
   GA31  Female infertility
    H02335  Preimplantation embryonic lethality

Pathway

Notch signaling pathway

Wnt signaling pathway

Gene

(PREMBL1) TLE6 [HSA:79816] [KO:K04497]
(PREMBL2) PADI6 [HSA:353238] [KO:K01481]

Other DBs

ICD-11:

OMIM:

Reference

PMID:26537248 (TLE6)

Authors

Alazami AM, Awad SM, Coskun S, Al-Hassan S, Hijazi H, Abdulwahab FM, Poizat C, Alkuraya FS

Title

TLE6 mutation causes the earliest known human embryonic lethality.

Journal

Genome Biol 16:240 (2015)
DOI:10.1186/s13059-015-0792-0

Reference

PMID:27545678 (PADI6)

Authors

Xu Y, Shi Y, Fu J, Yu M, Feng R, Sang Q, Liang B, Chen B, Qu R, Li B, Yan Z, Mao X, Kuang Y, Jin L, He L, Sun X, Wang L

Title

Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest.

Journal

Am J Hum Genet 99:744-752 (2016)
DOI:10.1016/j.ajhg.2016.06.024

LinkDB

» Japanese version

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