OOMD2
MCID: OCY002
MIFTS: 15

Oocyte Maturation Defect 2 (OOMD2)

Categories: Fetal diseases, Genetic diseases, Reproductive diseases

Aliases & Classifications for Oocyte Maturation Defect 2

MalaCards integrated aliases for Oocyte Maturation Defect 2:

Name: Oocyte Maturation Defect 2 58 76 6
Oomd2 58 76
Oocyte Maturation Defect, Type 2 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
carrier males are fertile


HPO:

33
oocyte maturation defect 2:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 616780
MeSH 45 D007247
SNOMED-CT via HPO 70 258211005 263681008 6738008

Summaries for Oocyte Maturation Defect 2

UniProtKB/Swiss-Prot : 76 Oocyte maturation defect 2: An autosomal dominant infertility disorder caused by defective oocyte maturation. Oocytes are arrested at metaphase I, and have an abnormal or no detectable spindle on polarization microscopy.

MalaCards based summary : Oocyte Maturation Defect 2, is also known as oomd2. An important gene associated with Oocyte Maturation Defect 2 is TUBB8 (Tubulin Beta 8 Class VIII). Related phenotypes are female infertility and oocyte arrest at metaphase i

Description from OMIM: 616780

Related Diseases for Oocyte Maturation Defect 2

Symptoms & Phenotypes for Oocyte Maturation Defect 2

Human phenotypes related to Oocyte Maturation Defect 2:

33
# Description HPO Frequency HPO Source Accession
1 female infertility 33 HP:0008222
2 oocyte arrest at metaphase i 33 HP:0031516

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Female:
primary infertility
oocyte arrest at metaphase i
metaphase ii oocytes (in some patients)
spindle abnormal or undetectable

Clinical features from OMIM:

616780

Drugs & Therapeutics for Oocyte Maturation Defect 2

Search Clinical Trials , NIH Clinical Center for Oocyte Maturation Defect 2

Genetic Tests for Oocyte Maturation Defect 2

Anatomical Context for Oocyte Maturation Defect 2

Publications for Oocyte Maturation Defect 2

Variations for Oocyte Maturation Defect 2

UniProtKB/Swiss-Prot genetic disease variations for Oocyte Maturation Defect 2:

76 (show all 13)
# Symbol AA change Variation ID SNP ID
1 TUBB8 p.Arg2Lys VAR_076898 rs869025273
2 TUBB8 p.Ser176Leu VAR_076900 rs869025609
3 TUBB8 p.Ile210Val VAR_076901 rs781853492
4 TUBB8 p.Val229Ala VAR_076902 rs869025271
5 TUBB8 p.Thr238Met VAR_076903 rs105752030
6 TUBB8 p.Val255Met VAR_076904 rs782269374
7 TUBB8 p.Arg262Gln VAR_076905 rs869025610
8 TUBB8 p.Arg262Trp VAR_076906 rs782486119
9 TUBB8 p.Thr285Pro VAR_076907
10 TUBB8 p.Met300Ile VAR_076908 rs869025612
11 TUBB8 p.Asn348Ser VAR_076909 rs127006866
12 TUBB8 p.Met363Thr VAR_076910 rs869025611
13 TUBB8 p.Asp417Asn VAR_076911 rs869025272

ClinVar genetic disease variations for Oocyte Maturation Defect 2:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 TUBB8 NM_177987.2(TUBB8): c.686T> C (p.Val229Ala) single nucleotide variant Pathogenic rs869025271 GRCh38 Chromosome 10, 47706: 47706
2 TUBB8 NM_177987.2(TUBB8): c.686T> C (p.Val229Ala) single nucleotide variant Pathogenic rs869025271 GRCh37 Chromosome 10, 93646: 93646
3 TUBB8 NM_177987.2(TUBB8): c.1249G> A (p.Asp417Asn) single nucleotide variant Pathogenic rs869025272 GRCh38 Chromosome 10, 47143: 47143
4 TUBB8 NM_177987.2(TUBB8): c.1249G> A (p.Asp417Asn) single nucleotide variant Pathogenic rs869025272 GRCh37 Chromosome 10, 93083: 93083
5 TUBB8 NM_177987.2(TUBB8): c.5G> A (p.Arg2Lys) single nucleotide variant Pathogenic rs869025273 GRCh38 Chromosome 10, 49234: 49234
6 TUBB8 NM_177987.2(TUBB8): c.5G> A (p.Arg2Lys) single nucleotide variant Pathogenic rs869025273 GRCh37 Chromosome 10, 95174: 95174
7 TUBB8 NM_177987.2(TUBB8): c.1088T> C (p.Met363Thr) single nucleotide variant Pathogenic rs869025611 GRCh37 Chromosome 10, 93244: 93244
8 TUBB8 NM_177987.2(TUBB8): c.1088T> C (p.Met363Thr) single nucleotide variant Pathogenic rs869025611 GRCh38 Chromosome 10, 47304: 47304
9 TUBB8 NM_177987.2(TUBB8): c.900G> A (p.Met300Ile) single nucleotide variant Pathogenic rs869025612 GRCh38 Chromosome 10, 47492: 47492
10 TUBB8 NM_177987.2(TUBB8): c.900G> A (p.Met300Ile) single nucleotide variant Pathogenic rs869025612 GRCh37 Chromosome 10, 93432: 93432
11 TUBB8 NM_177987.2(TUBB8): c.785G> A (p.Arg262Gln) single nucleotide variant Pathogenic rs869025610 GRCh38 Chromosome 10, 47607: 47607
12 TUBB8 NM_177987.2(TUBB8): c.785G> A (p.Arg262Gln) single nucleotide variant Pathogenic rs869025610 GRCh37 Chromosome 10, 93547: 93547
13 TUBB8 NM_177987.2(TUBB8): c.527C> T (p.Ser176Leu) single nucleotide variant Pathogenic rs869025609 GRCh38 Chromosome 10, 47865: 47865
14 TUBB8 NM_177987.2(TUBB8): c.527C> T (p.Ser176Leu) single nucleotide variant Pathogenic rs869025609 GRCh37 Chromosome 10, 93805: 93805
15 TUBB8 NM_177987.2(TUBB8): c.713C> T (p.Thr238Met) single nucleotide variant Pathogenic rs1057520306 GRCh38 Chromosome 10, 47679: 47679
16 TUBB8 NM_177987.2(TUBB8): c.713C> T (p.Thr238Met) single nucleotide variant Pathogenic rs1057520306 GRCh37 Chromosome 10, 93619: 93619
17 TUBB8 NM_177987.2(TUBB8): c.80_100del21 (p.Glu27_Ala33del) deletion Pathogenic rs1057520307 GRCh37 Chromosome 10, 94810: 94830
18 TUBB8 NM_177987.2(TUBB8): c.80_100del21 (p.Glu27_Ala33del) deletion Pathogenic rs1057520307 GRCh38 Chromosome 10, 48870: 48890
19 TUBB8 NM_177987.2(TUBB8): c.426dupG (p.Thr143Aspfs) duplication Pathogenic rs782246853 GRCh38 Chromosome 10, 47966: 47966
20 TUBB8 NM_177987.2(TUBB8): c.426dupG (p.Thr143Aspfs) duplication Pathogenic rs782246853 GRCh37 Chromosome 10, 93906: 93906

Expression for Oocyte Maturation Defect 2

Search GEO for disease gene expression data for Oocyte Maturation Defect 2.

Pathways for Oocyte Maturation Defect 2

GO Terms for Oocyte Maturation Defect 2

Sources for Oocyte Maturation Defect 2

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
Content
Loading form....