PREMBL1
MCID: PRM252
MIFTS: 17

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 58 76 6
Prembl1 58 76
Lethality, Embryonic, Preimplantation, Type 1 41
Lethality, Embryonic, Preimplantation 41
Preimplantation Embryonic Lethality 58
Prembl 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
males with biallelic mutations are fertile


HPO:

33
preimplantation embryonic lethality 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 616814
MeSH 45 D007247
SNOMED-CT via HPO 70 258211005 6738008

Summaries for Preimplantation Embryonic Lethality 1

OMIM : 58 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)

MalaCards based summary : Preimplantation Embryonic Lethality 1, also known as prembl1, is related to preimplantation embryonic lethality 2. An important gene associated with Preimplantation Embryonic Lethality 1 is TLE6 (TLE Family Member 6, Subcortical Maternal Complex Member). Related phenotype is female infertility.

UniProtKB/Swiss-Prot : 76 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 12.8

Symptoms & Phenotypes for Preimplantation Embryonic Lethality 1

Human phenotypes related to Preimplantation Embryonic Lethality 1:

33
# Description HPO Frequency HPO Source Accession
1 female infertility 33 HP:0008222

Symptoms via clinical synopsis from OMIM:

58
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

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

Anatomical Context for Preimplantation Embryonic Lethality 1

Publications for Preimplantation Embryonic Lethality 1

Articles related to Preimplantation Embryonic Lethality 1:

# Title Authors Year
1
Targeted disruption of Noc4l leads to preimplantation embryonic lethality in mice. ( 28012024 )
2017
2
TLE6 mutation causes the earliest known human embryonic lethality. ( 26537248 )
2015
3
Lack of WDR36 leads to preimplantation embryonic lethality in mice and delays the formation of small subunit ribosomal RNA in human cells in vitro. ( 21051332 )
2011

Variations for Preimplantation Embryonic Lethality 1

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

76
# Symbol AA change Variation ID SNP ID
1 TLE6 p.Ser510Tyr VAR_076246 rs767222404

ClinVar genetic disease variations for Preimplantation Embryonic Lethality 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TLE6 NM_001143986.1(TLE6): c.1529C> A (p.Ser510Tyr) single nucleotide variant Pathogenic rs767222404 GRCh38 Chromosome 19, 2993574: 2993574
2 TLE6 NM_001143986.1(TLE6): c.1529C> A (p.Ser510Tyr) single nucleotide variant Pathogenic rs767222404 GRCh37 Chromosome 19, 2993572: 2993572
3 TLE6 NM_001143986.1(TLE6): c.1133delC (p.Ala378Glufs) deletion Pathogenic rs776453307 GRCh37 Chromosome 19, 2989672: 2989672
4 TLE6 NM_001143986.1(TLE6): c.1133delC (p.Ala378Glufs) deletion Pathogenic rs776453307 GRCh38 Chromosome 19, 2989674: 2989674

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

Sources for Preimplantation Embryonic Lethality 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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