MCID: PRM251
MIFTS: 12

Preimplantation Embryonic Lethality 2

Categories: Genetic diseases, Fetal diseases

Aliases & Classifications for Preimplantation Embryonic Lethality 2

MalaCards integrated aliases for Preimplantation Embryonic Lethality 2:

Name: Preimplantation Embryonic Lethality 2 57 75 6
Prembl2 57 75
Lethality, Embryonic, Preimplantation, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
males with biallelic mutations are fertile


HPO:

32
preimplantation embryonic lethality 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 617234
MeSH 44 D007247
SNOMED-CT via HPO 69 258211005

Summaries for Preimplantation Embryonic Lethality 2

UniProtKB/Swiss-Prot : 75 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).

Description from OMIM: 617234

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

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Female:
primary infertility due to recurrent early embryonic arrest

Prenatal Manifestations:
recurrent early embryonic arrest


Clinical features from OMIM:

617234

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

Anatomical Context for Preimplantation Embryonic Lethality 2

Publications for Preimplantation Embryonic Lethality 2

Variations for Preimplantation Embryonic Lethality 2

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

75
# Symbol AA change Variation ID SNP ID
1 PADI6 p.His211Gln VAR_078106 rs775156958
2 PADI6 p.Gly540Arg VAR_078107 rs1057517684Preimplantation

ClinVar genetic disease variations for Preimplantation Embryonic Lethality 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PADI6 NM_207421.4(PADI6): c.1141C> T (p.Gln381Ter) single nucleotide variant Pathogenic rs1057517681 GRCh38 Chromosome 1, 17394041: 17394041
2 PADI6 NM_207421.4(PADI6): c.1141C> T (p.Gln381Ter) single nucleotide variant Pathogenic rs1057517681 GRCh37 Chromosome 1, 17720537: 17720537
3 PADI6 NM_207421.4(PADI6): c.2009_2010delAG (p.Glu670Glyfs) deletion Pathogenic rs1057517682 GRCh38 Chromosome 1, 17401362: 17401363
4 PADI6 NM_207421.4(PADI6): c.2009_2010delAG (p.Glu670Glyfs) deletion Pathogenic rs1057517682 GRCh37 Chromosome 1, 17727858: 17727859
5 PADI6 NM_207421.4(PADI6): c.633T> A (p.His211Gln) single nucleotide variant Pathogenic rs775156958 GRCh38 Chromosome 1, 17382046: 17382046
6 PADI6 NM_207421.4(PADI6): c.633T> A (p.His211Gln) single nucleotide variant Pathogenic rs775156958 GRCh37 Chromosome 1, 17708541: 17708541
7 PADI6 NM_207421.4(PADI6): c.970C> T (p.Gln324Ter) single nucleotide variant Pathogenic rs1057517683 GRCh37 Chromosome 1, 17718616: 17718616
8 PADI6 NM_207421.4(PADI6): c.970C> T (p.Gln324Ter) single nucleotide variant Pathogenic rs1057517683 GRCh38 Chromosome 1, 17392121: 17392121
9 PADI6 NM_207421.4(PADI6): c.1618G> A (p.Gly540Arg) single nucleotide variant Pathogenic rs1057517684 GRCh38 Chromosome 1, 17395663: 17395663
10 PADI6 NM_207421.4(PADI6): c.1618G> A (p.Gly540Arg) single nucleotide variant Pathogenic rs1057517684 GRCh37 Chromosome 1, 17722159: 17722159

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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