PREMBL1
MCID: PRM252
MIFTS: 25

Preimplantation Embryonic Lethality 1 (PREMBL1)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Preimplantation Embryonic Lethality 1

MalaCards integrated aliases for Preimplantation Embryonic Lethality 1:

Name: Preimplantation Embryonic Lethality 1 57 72 6
Preimplantation Embryonic Lethality 57 36 29 6
Prembl1 57 72
Lethality, Embryonic, Preimplantation, Type 1 39
Lethality, Embryonic, Preimplantation 39
Prembl 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
males with biallelic mutations are fertile


HPO:

31
preimplantation embryonic lethality 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 616814
OMIM Phenotypic Series 57 PS616814
KEGG 36 H02335
MeSH 44 D007247
SNOMED-CT via HPO 68 258211005 6738008

Summaries for Preimplantation Embryonic Lethality 1

OMIM® : 57 Maternal genes play a critical role in the very early stages of embryonic development because of the lag in transcribing genes derived from the male pronucleus. TLE6 mutations are a rare cause of human female-limited fertility and appear to represent the earliest known human embryonic lethality that is due to a single gene mutation. In affected women, ovulation proceeds normally and the retrieved oocytes appear normal, but zygote formation is severely impaired (Alazami et al., 2015). (616814) (Updated 20-May-2021)

MalaCards based summary : Preimplantation Embryonic Lethality 1, also known as preimplantation embryonic lethality, is related to preimplantation embryonic lethality 2 and glaucoma, primary open angle. An important gene associated with Preimplantation Embryonic Lethality 1 is TLE6 (TLE Family Member 6, Subcortical Maternal Complex Member). Related phenotype is female infertility.

KEGG : 36 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 has also been identified in individuals with PREMBL.

UniProtKB/Swiss-Prot : 72 Preimplantation embryonic lethality 1: A rare cause of female primary infertility. In affected women, ovulation proceeds normally and the retrieved oocytes appear normal, but zygote formation and division are severely impaired. Inheritance is autosomal recessive.

Related Diseases for Preimplantation Embryonic Lethality 1

Diseases in the Preimplantation Embryonic Lethality 1 family:

Preimplantation Embryonic Lethality 2

Diseases related to Preimplantation Embryonic Lethality 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 preimplantation embryonic lethality 2 11.9
2 glaucoma, primary open angle 10.1
3 yemenite deaf-blind hypopigmentation syndrome 10.1
4 open-angle glaucoma 10.1
5 gestational trophoblastic neoplasm 9.5 TLE6 NLRP5

Graphical network of the top 20 diseases related to Preimplantation Embryonic Lethality 1:



Diseases related to Preimplantation Embryonic Lethality 1

Symptoms & Phenotypes for Preimplantation Embryonic Lethality 1

Human phenotypes related to Preimplantation Embryonic Lethality 1:

31
# Description HPO Frequency HPO Source Accession
1 female infertility 31 HP:0008222

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Internal Genitalia Female:
primary infertility due to failure of zygote formation

Prenatal Manifestations:
failure of zygote formation (in some patients)
failure of division of zygotes

Clinical features from OMIM®:

616814 (Updated 20-May-2021)

Drugs & Therapeutics for Preimplantation Embryonic Lethality 1

Search Clinical Trials , NIH Clinical Center for Preimplantation Embryonic Lethality 1

Genetic Tests for Preimplantation Embryonic Lethality 1

Genetic tests related to Preimplantation Embryonic Lethality 1:

# Genetic test Affiliating Genes
1 Preimplantation Embryonic Lethality 29

Anatomical Context for Preimplantation Embryonic Lethality 1

Publications for Preimplantation Embryonic Lethality 1

Articles related to Preimplantation Embryonic Lethality 1:

# Title Authors PMID Year
1
TLE6 mutation causes the earliest known human embryonic lethality. 6 57
26537248 2015
2
Targeted disruption of Noc4l leads to preimplantation embryonic lethality in mice. 61
28012024 2017
3
Expression of phosphatidylcholine biosynthetic enzymes during early embryogenesis in the amphibian Bufo arenarum. 61
24229731 2015
4
Geminin escapes degradation in G1 of mouse pluripotent cells and mediates the expression of Oct4, Sox2, and Nanog. 61
21497086 2011
5
Lack of WDR36 leads to preimplantation embryonic lethality in mice and delays the formation of small subunit ribosomal RNA in human cells in vitro. 61
21051332 2011
6
Intestinal differentiation in zebrafish requires Cdx1b, a functional equivalent of mammalian Cdx2. 61
18804112 2008
7
Cdx2 is essential for axial elongation in mouse development. 61
15136723 2004
8
The embryonic lethality of homozygous lethal yellow mice (Ay/Ay) is associated with the disruption of a novel RNA-binding protein. 61
8319910 1993

Variations for Preimplantation Embryonic Lethality 1

ClinVar genetic disease variations for Preimplantation Embryonic Lethality 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TLE6 NM_001143986.2(TLE6):c.1529C>A (p.Ser510Tyr) SNV Pathogenic 222026 rs767222404 GRCh37: 19:2993572-2993572
GRCh38: 19:2993574-2993574
2 TLE6 NM_001143986.2(TLE6):c.1133del (p.Ala378fs) Deletion Pathogenic 453260 rs776453307 GRCh37: 19:2989672-2989672
GRCh38: 19:2989674-2989674
3 TLE6 NM_001143986.2(TLE6):c.806del (p.Lys269fs) Deletion Pathogenic 1031158 GRCh37: 19:2989122-2989122
GRCh38: 19:2989124-2989124
4 NLRP5 NM_153447.4(NLRP5):c.2274_2275del (p.Trp759fs) Deletion Likely pathogenic 812688 GRCh37: 19:56539872-56539873
GRCh38: 19:56028506-56028507
5 TLE6 NM_001143986.2(TLE6):c.805_806del (p.Lys269fs) Deletion Likely pathogenic 812696 GRCh37: 19:2989122-2989123
GRCh38: 19:2989124-2989125

UniProtKB/Swiss-Prot genetic disease variations for Preimplantation Embryonic Lethality 1:

72
# Symbol AA change Variation ID SNP ID
1 TLE6 p.Ser510Tyr VAR_076246 rs767222404

Expression for Preimplantation Embryonic Lethality 1

Search GEO for disease gene expression data for Preimplantation Embryonic Lethality 1.

Pathways for Preimplantation Embryonic Lethality 1

GO Terms for Preimplantation Embryonic Lethality 1

Cellular components related to Preimplantation Embryonic Lethality 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell cortex GO:0005938 8.62 TLE6 NLRP5

Biological processes related to Preimplantation Embryonic Lethality 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.16 TLE6 NLRP5
2 regulation of cell division GO:0051302 8.96 TLE6 NLRP5
3 establishment of spindle localization GO:0051293 8.62 TLE6 NLRP5

Sources for Preimplantation Embryonic Lethality 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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