PREMBL2
MCID: PRM251
MIFTS: 16

Preimplantation Embryonic Lethality 2 (PREMBL2)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Preimplantation Embryonic Lethality 2

MalaCards integrated aliases for Preimplantation Embryonic Lethality 2:

Name: Preimplantation Embryonic Lethality 2 57 72 29 6
Prembl2 57 72
Lethality, Embryonic, Preimplantation, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
males with biallelic mutations are fertile


HPO:

31
preimplantation embryonic lethality 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 617234
OMIM Phenotypic Series 57 PS616814
MeSH 44 D007247
SNOMED-CT via HPO 68 15296000 258211005 8619003

Summaries for Preimplantation Embryonic Lethality 2

UniProtKB/Swiss-Prot : 72 Preimplantation embryonic lethality 2: A rare cause of female primary infertility. In affected women, ovulation and fertilization proceed normally but embryos are arrested at early stages of development. Inheritance is autosomal recessive.

MalaCards based summary : Preimplantation Embryonic Lethality 2, is also known as prembl2. An important gene associated with Preimplantation Embryonic Lethality 2 is PADI6 (Peptidyl Arginine Deiminase 6). Related phenotypes are infertility and preimplantation lethality

More information from OMIM: 617234 PS616814

Related Diseases for Preimplantation Embryonic Lethality 2

Diseases in the Preimplantation Embryonic Lethality 1 family:

Preimplantation Embryonic Lethality 2

Symptoms & Phenotypes for Preimplantation Embryonic Lethality 2

Human phenotypes related to Preimplantation Embryonic Lethality 2:

31
# Description HPO Frequency HPO Source Accession
1 infertility 31 HP:0000789
2 preimplantation lethality 31 HP:0032479

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Female:
primary infertility due to recurrent early embryonic arrest

Prenatal Manifestations:
recurrent early embryonic arrest

Clinical features from OMIM®:

617234 (Updated 05-Apr-2021)

Drugs & Therapeutics for Preimplantation Embryonic Lethality 2

Search Clinical Trials , NIH Clinical Center for Preimplantation Embryonic Lethality 2

Genetic Tests for Preimplantation Embryonic Lethality 2

Genetic tests related to Preimplantation Embryonic Lethality 2:

# Genetic test Affiliating Genes
1 Preimplantation Embryonic Lethality 2 29 PADI6

Anatomical Context for Preimplantation Embryonic Lethality 2

Publications for Preimplantation Embryonic Lethality 2

Articles related to Preimplantation Embryonic Lethality 2:

# Title Authors PMID Year
1
Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest. 6 57
27545678 2016

Variations for Preimplantation Embryonic Lethality 2

ClinVar genetic disease variations for Preimplantation Embryonic Lethality 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PADI6 NM_207421.4(PADI6):c.1141C>T (p.Gln381Ter) SNV Pathogenic 372228 rs1057517681 GRCh37: 1:17720537-17720537
GRCh38: 1:17394041-17394041
2 PADI6 NM_207421.4(PADI6):c.970C>T (p.Gln324Ter) SNV Pathogenic 372231 rs1057517683 GRCh37: 1:17718616-17718616
GRCh38: 1:17392121-17392121
3 PADI6 NM_207421.4(PADI6):c.2007_2008AG[1] (p.Glu670fs) Microsatellite Pathogenic 372229 rs1057517682 GRCh37: 1:17727856-17727857
GRCh38: 1:17401360-17401361
4 PADI6 NM_207421.4(PADI6):c.1618G>A (p.Gly540Arg) SNV Pathogenic 372232 rs1057517684 GRCh37: 1:17722159-17722159
GRCh38: 1:17395663-17395663
5 PADI6 NM_207421.4(PADI6):c.633T>A (p.His211Gln) SNV Pathogenic 372230 rs775156958 GRCh37: 1:17708541-17708541
GRCh38: 1:17382046-17382046

UniProtKB/Swiss-Prot genetic disease variations for Preimplantation Embryonic Lethality 2:

72
# Symbol AA change Variation ID SNP ID
1 PADI6 p.His211Gln VAR_078106 rs775156958
2 PADI6 p.Gly540Arg VAR_078107 rs105751768

Expression for Preimplantation Embryonic Lethality 2

Search GEO for disease gene expression data for Preimplantation Embryonic Lethality 2.

Pathways for Preimplantation Embryonic Lethality 2

GO Terms for Preimplantation Embryonic Lethality 2

Sources for Preimplantation Embryonic Lethality 2

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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