OOMD4
MCID: OCY005
MIFTS: 19

Oocyte Maturation Defect 4 (OOMD4)

Categories: Fetal diseases, Genetic diseases, Reproductive diseases

Aliases & Classifications for Oocyte Maturation Defect 4

MalaCards integrated aliases for Oocyte Maturation Defect 4:

Name: Oocyte Maturation Defect 4 57 72 29 6
Oomd4 57 72
Oocyte Maturation Defect, Type 4 39

Characteristics:

OMIM®:

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

Miscellaneous:
carrier males are fertile
phenotypic variability observed in affected females


HPO:

31
oocyte maturation defect 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 617743
OMIM Phenotypic Series 57 PS615774
MeSH 44 D007247
SNOMED-CT via HPO 68 15296000 258211005 8619003

Summaries for Oocyte Maturation Defect 4

OMIM® : 57 Oocyte maturation defects due to mutation in PATL2 show phenotypic variability, with some oocytes exhibiting maturation arrest at the germinal vesicle stage and others at the metaphase I stage. In some patients, a few oocytes progress to polar body I; those oocytes either undergo fertilization failure or, in those that are fertilized, early embryonic arrest (Chen et al., 2017). (617743) (Updated 20-May-2021)

MalaCards based summary : Oocyte Maturation Defect 4, is also known as oomd4. An important gene associated with Oocyte Maturation Defect 4 is PATL2 (PAT1 Homolog 2). Related phenotype is infertility.

UniProtKB/Swiss-Prot : 72 Oocyte maturation defect 4: An infertility disorder characterized by oocyte maturation arrest that can occur at different stages of maturation. Some oocytes exhibit maturation arrest at the germinal vesicle stage and others at the metaphase I stage. Oocytes progressing to polar body I either undergo fertilization failure or, in those that are fertilized, early embryonic arrest.

Related Diseases for Oocyte Maturation Defect 4

Symptoms & Phenotypes for Oocyte Maturation Defect 4

Human phenotypes related to Oocyte Maturation Defect 4:

31
# Description HPO Frequency HPO Source Accession
1 infertility 31 HP:0000789

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Internal Genitalia Female:
infertility
oocyte maturation arrest in germinal vesicle stage
oocyte maturation arrest in metaphase i
oocyte maturation arrest in polar body 1 (pb1) stage (in some patients)
abnormal pb1 oocytes with large polar body (in some patients)
more

Clinical features from OMIM®:

617743 (Updated 20-May-2021)

Drugs & Therapeutics for Oocyte Maturation Defect 4

Search Clinical Trials , NIH Clinical Center for Oocyte Maturation Defect 4

Genetic Tests for Oocyte Maturation Defect 4

Genetic tests related to Oocyte Maturation Defect 4:

# Genetic test Affiliating Genes
1 Oocyte Maturation Defect 4 29 PATL2

Anatomical Context for Oocyte Maturation Defect 4

Publications for Oocyte Maturation Defect 4

Articles related to Oocyte Maturation Defect 4:

# Title Authors PMID Year
1
Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2. 6 57
28965844 2017
2
Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest. 57 6
28965849 2017

Variations for Oocyte Maturation Defect 4

ClinVar genetic disease variations for Oocyte Maturation Defect 4:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PATL2 NM_001330283.1(PATL2):c.-10T>A SNV Pathogenic 444048 rs752734259 GRCh37: 15:44964312-44964312
GRCh38: 15:44672114-44672114
2 PATL2 NM_001145112.1(PATL2):c.223-14_223-2del Deletion Pathogenic 444049 rs751701388 GRCh37: 15:44966430-44966442
GRCh38: 15:44674232-44674244
3 PATL2 NM_001145112.1(PATL2):c.1224+2T>C SNV Pathogenic 444050 rs1555385717 GRCh37: 15:44961176-44961176
GRCh38: 15:44668978-44668978
4 PATL2 NM_001387263.1(PATL2):c.931-1G>A SNV Pathogenic 1033333 GRCh37: 15:44961612-44961612
GRCh38: 15:44669414-44669414
5 PATL2 NM_001145112.1(PATL2):c.478C>T (p.Arg160Ter) SNV Likely pathogenic 444045 rs548527219 GRCh37: 15:44964623-44964623
GRCh38: 15:44672425-44672425
6 PATL2 NM_001145112.1(PATL2):c.649T>A (p.Tyr217Asn) SNV Likely pathogenic 549488 rs1361024832 GRCh37: 15:44964221-44964221
GRCh38: 15:44672023-44672023
7 PATL2 NM_001330283.1(PATL2):c.-2T>G SNV Likely pathogenic 549492 rs1156737044 GRCh37: 15:44964304-44964304
GRCh38: 15:44672106-44672106
8 PATL2 NM_001145112.1(PATL2):c.784C>T (p.Arg262Ter) SNV Likely pathogenic 444047 rs1351320025 GRCh37: 15:44962067-44962067
GRCh38: 15:44669869-44669869
9 PATL2 NM_001145112.1(PATL2):c.1108G>A (p.Gly370Arg) SNV Uncertain significance 444046 rs1397500378 GRCh37: 15:44961294-44961294
GRCh38: 15:44669096-44669096
10 PATL2 NM_001145112.1(PATL2):c.839G>A (p.Arg280Gln) SNV Uncertain significance 444052 rs569729547 GRCh37: 15:44962012-44962012
GRCh38: 15:44669814-44669814
11 PATL2 NM_001145112.1(PATL2):c.953T>C (p.Ile318Thr) SNV Uncertain significance 444051 rs1011539285 GRCh37: 15:44961589-44961589
GRCh38: 15:44669391-44669391

UniProtKB/Swiss-Prot genetic disease variations for Oocyte Maturation Defect 4:

72
# Symbol AA change Variation ID SNP ID
1 PATL2 p.Leu189Arg VAR_080257 rs115673704
2 PATL2 p.Tyr217Asn VAR_080258 rs136102483

Expression for Oocyte Maturation Defect 4

Search GEO for disease gene expression data for Oocyte Maturation Defect 4.

Pathways for Oocyte Maturation Defect 4

GO Terms for Oocyte Maturation Defect 4

Sources for Oocyte Maturation Defect 4

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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