MCID: OCY002
MIFTS: 15

Oocyte Maturation Defect 2

Categories: Genetic diseases, Reproductive diseases

Aliases & Classifications for Oocyte Maturation Defect 2

MalaCards integrated aliases for Oocyte Maturation Defect 2:

Name: Oocyte Maturation Defect 2 57 75 6
Oomd2 57 75
Oocyte Maturation Defect, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive

Miscellaneous:
carrier males are fertile


HPO:

32
oocyte maturation defect 2:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616780
MeSH 44 D007247
SNOMED-CT via HPO 69 263681008 258211005 6738008

Summaries for Oocyte Maturation Defect 2

UniProtKB/Swiss-Prot : 75 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 phenotype is female infertility.

Description from OMIM: 616780

Related Diseases for Oocyte Maturation Defect 2

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 2

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Oocyte Maturation Defect 2:

32
# Description HPO Frequency HPO Source Accession
1 female infertility 32 HP:0008222

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:

75 (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
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
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 GRCh38 Chromosome 10, 47304: 47304
8 TUBB8 NM_177987.2(TUBB8): c.1088T> C (p.Met363Thr) single nucleotide variant Pathogenic rs869025611 GRCh37 Chromosome 10, 93244: 93244
9 TUBB8 NM_177987.2(TUBB8): c.900G> A (p.Met300Ile) single nucleotide variant Pathogenic rs869025612 GRCh37 Chromosome 10, 93432: 93432
10 TUBB8 NM_177987.2(TUBB8): c.900G> A (p.Met300Ile) single nucleotide variant Pathogenic rs869025612 GRCh38 Chromosome 10, 47492: 47492
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

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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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