MCID: OCY005
MIFTS: 13

Oocyte Maturation Defect 4

Categories: 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 75 6
Oomd4 57 75
Oocyte Maturation Defect, Type 4 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 617743
MeSH 44 D007247

Summaries for Oocyte Maturation Defect 4

UniProtKB/Swiss-Prot : 75 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.

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).

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)

Related Diseases for Oocyte Maturation Defect 4

Diseases in the Oocyte Maturation Defect 1 family:

Oocyte Maturation Defect 2 Oocyte Maturation Defect 3
Oocyte Maturation Defect 4

Symptoms & Phenotypes for Oocyte Maturation Defect 4

Symptoms via clinical synopsis from OMIM:

57
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

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

Anatomical Context for Oocyte Maturation Defect 4

Publications for Oocyte Maturation Defect 4

Variations for Oocyte Maturation Defect 4

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

75
# Symbol AA change Variation ID SNP ID
1 PATL2 p.Leu189Arg VAR_080257
2 PATL2 p.Tyr217Asn VAR_080258

ClinVar genetic disease variations for Oocyte Maturation Defect 4:

6
(show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 PATL2 NM_001145112.1(PATL2): c.478C> T (p.Arg160Ter) single nucleotide variant Pathogenic rs548527219 GRCh38 Chromosome 15, 44672425: 44672425
2 PATL2 NM_001145112.1(PATL2): c.478C> T (p.Arg160Ter) single nucleotide variant Pathogenic rs548527219 GRCh37 Chromosome 15, 44964623: 44964623
3 PATL2 NM_001145112.1(PATL2): c.1108G> A (p.Gly370Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 44669096: 44669096
4 PATL2 NM_001145112.1(PATL2): c.1108G> A (p.Gly370Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 44961294: 44961294
5 PATL2 NM_001145112.1(PATL2): c.784C> T (p.Arg262Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 44962067: 44962067
6 PATL2 NM_001145112.1(PATL2): c.784C> T (p.Arg262Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 44669869: 44669869
7 PATL2 NM_001145112.1(PATL2): c.558T> A (p.Tyr186Ter) single nucleotide variant Pathogenic rs752734259 GRCh38 Chromosome 15, 44672114: 44672114
8 PATL2 NM_001145112.1(PATL2): c.558T> A (p.Tyr186Ter) single nucleotide variant Pathogenic rs752734259 GRCh37 Chromosome 15, 44964312: 44964312
9 PATL2 NM_001145112.1(PATL2): c.223-14_223-2delCCCTCCTGTTCCA deletion Pathogenic
10 PATL2 NM_001145112.1(PATL2): c.1224+2T> C single nucleotide variant Pathogenic GRCh38 Chromosome 15, 44668978: 44668978
11 PATL2 NM_001145112.1(PATL2): c.1224+2T> C single nucleotide variant Pathogenic GRCh37 Chromosome 15, 44961176: 44961176
12 PATL2 NM_001145112.1(PATL2): c.953T> C (p.Ile318Thr) single nucleotide variant Pathogenic rs1011539285 GRCh38 Chromosome 15, 44669391: 44669391
13 PATL2 NM_001145112.1(PATL2): c.953T> C (p.Ile318Thr) single nucleotide variant Pathogenic rs1011539285 GRCh37 Chromosome 15, 44961589: 44961589
14 PATL2 NM_001145112.1(PATL2): c.839G> A (p.Arg280Gln) single nucleotide variant Pathogenic rs569729547 GRCh37 Chromosome 15, 44962012: 44962012
15 PATL2 NM_001145112.1(PATL2): c.839G> A (p.Arg280Gln) single nucleotide variant Pathogenic rs569729547 GRCh38 Chromosome 15, 44669814: 44669814

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 ExPASy
19 FMA
28 GO
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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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