MCID: OCY002
MIFTS: 14

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 53 71
Oomd2 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant
autosomal recessive

Miscellaneous:
carrier males are fertile


HPO:

31
oocyte maturation defect 2:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 616780
MeSH 41 D007247
SNOMED-CT via HPO 65 263681008 258211005 6738008

Summaries for Oocyte Maturation Defect 2

UniProtKB/Swiss-Prot : 71 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, and has symptoms including female infertility An important gene associated with Oocyte Maturation Defect 2 is TUBB8 (Tubulin Beta 8 Class VIII).

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:

53
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:

31
# Description HPO Frequency HPO Source Accession
1 female infertility 31 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:

71 (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
# 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.1249G> A (p.Asp417Asn) single nucleotide variant Pathogenic rs869025272 GRCh38 Chromosome 10, 47143: 47143
3 TUBB8 NM_177987.2(TUBB8): c.5G> A (p.Arg2Lys) single nucleotide variant Pathogenic rs869025273 GRCh38 Chromosome 10, 49234: 49234
4 TUBB8 NM_177987.2(TUBB8): c.1088T> C (p.Met363Thr) single nucleotide variant Pathogenic rs869025611 GRCh37 Chromosome 10, 93244: 93244
5 TUBB8 NM_177987.2(TUBB8): c.900G> A (p.Met300Ile) single nucleotide variant Pathogenic rs869025612 GRCh37 Chromosome 10, 93432: 93432
6 TUBB8 NM_177987.2(TUBB8): c.785G> A (p.Arg262Gln) single nucleotide variant Pathogenic rs869025610 GRCh38 Chromosome 10, 47607: 47607
7 TUBB8 NM_177987.2(TUBB8): c.527C> T (p.Ser176Leu) single nucleotide variant Pathogenic rs869025609 GRCh38 Chromosome 10, 47865: 47865
8 TUBB8 NM_177987.2(TUBB8): c.713C> T (p.Thr238Met) single nucleotide variant Pathogenic rs1057520306 GRCh38 Chromosome 10, 47679: 47679
9 TUBB8 NM_177987.2(TUBB8): c.80_100del21 (p.Glu27_Ala33del) deletion Pathogenic rs1057520307 GRCh37 Chromosome 10, 94810: 94830
10 TUBB8 NM_177987.2(TUBB8): c.426dupG (p.Thr143Aspfs) duplication Pathogenic rs782246853 GRCh38 Chromosome 10, 47966: 47966

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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