OOMD2
MCID: OCY002
MIFTS: 21

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 57 72 29 6
Oomd2 57 72
Oocyte Maturation Defect, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
carrier males are fertile


HPO:

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


Classifications:



External Ids:

OMIM® 57 616780
OMIM Phenotypic Series 57 PS615774
MeSH 44 D007247
SNOMED-CT via HPO 68 258211005 263681008 6738008

Summaries for Oocyte Maturation Defect 2

UniProtKB/Swiss-Prot : 72 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

More information from OMIM: 616780 PS615774

Related Diseases for Oocyte Maturation Defect 2

Symptoms & Phenotypes for Oocyte Maturation Defect 2

Human phenotypes related to Oocyte Maturation Defect 2:

31
# Description HPO Frequency HPO Source Accession
1 female infertility 31 HP:0008222
2 oocyte arrest at metaphase i 31 HP:0031516

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Female:
oocyte arrest at metaphase i
primary infertility
metaphase ii oocytes (in some patients)
spindle abnormal or undetectable

Clinical features from OMIM®:

616780 (Updated 05-Apr-2021)

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

Genetic tests related to Oocyte Maturation Defect 2:

# Genetic test Affiliating Genes
1 Oocyte Maturation Defect 2 29 TUBB8

Anatomical Context for Oocyte Maturation Defect 2

Publications for Oocyte Maturation Defect 2

Articles related to Oocyte Maturation Defect 2:

# Title Authors PMID Year
1
Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos. 57 6
27273344 2016
2
Mutations in TUBB8 and Human Oocyte Meiotic Arrest. 6 57
26789871 2016
3
Oocyte maturation arrest produced by TUBB8 mutations: impact of genetic disorders in infertility treatment. 6
32063091 2020
4
Rare homozygous mutation in TUBB8 associated with oocyte maturation defect-2 in a consanguineous mating family. 61
32316999 2020

Variations for Oocyte Maturation Defect 2

ClinVar genetic disease variations for Oocyte Maturation Defect 2:

6 (show all 42)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TUBB8 NM_177987.2(TUBB8):c.900G>A (p.Met300Ile) SNV Pathogenic 223146 rs869025612 GRCh37: 10:93432-93432
GRCh38: 10:47492-47492
2 TUBB8 NM_177987.2(TUBB8):c.785G>A (p.Arg262Gln) SNV Pathogenic 223144 rs869025610 GRCh37: 10:93547-93547
GRCh38: 10:47607-47607
3 TUBB8 NM_177987.2(TUBB8):c.1088T>C (p.Met363Thr) SNV Pathogenic 223145 rs869025611 GRCh37: 10:93244-93244
GRCh38: 10:47304-47304
4 TUBB8 NM_177987.2(TUBB8):c.426dup (p.Thr143fs) Duplication Pathogenic 378061 rs782246853 GRCh37: 10:93905-93906
GRCh38: 10:47965-47966
5 TUBB8 NM_177987.3(TUBB8):c.1203_1204insCT (p.Gly402fs) Insertion Pathogenic 977667 GRCh37: 10:93128-93129
GRCh38: 10:47188-47189
6 TUBB8 NM_177987.3(TUBB8):c.722G>A (p.Arg241His) SNV Pathogenic 977673 GRCh37: 10:93610-93610
GRCh38: 10:47670-47670
7 TUBB8 NM_177987.3(TUBB8):c.922G>A (p.Gly308Ser) SNV Pathogenic 996214 GRCh37: 10:93410-93410
GRCh38: 10:47470-47470
8 TUBB8 NM_177987.2(TUBB8):c.80_100del (p.Glu27_Ala33del) Deletion Pathogenic 378060 rs1057520307 GRCh37: 10:94810-94830
GRCh38: 10:48870-48890
9 TUBB8 NM_177987.3(TUBB8):c.713C>T SNV Pathogenic 378059 rs1057520306 GRCh37: 10:93619-93619
GRCh38: 10:47679-47679
10 TUBB8 NM_177987.2(TUBB8):c.5G>A (p.Arg2Lys) SNV Pathogenic 221270 rs869025273 GRCh37: 10:95174-95174
GRCh38: 10:49234-49234
11 TUBB8 NM_177987.2(TUBB8):c.686T>C (p.Val229Ala) SNV Pathogenic 221268 rs869025271 GRCh37: 10:93646-93646
GRCh38: 10:47706-47706
12 TUBB8 NM_177987.2(TUBB8):c.1249G>A (p.Asp417Asn) SNV Pathogenic 221269 rs869025272 GRCh37: 10:93083-93083
GRCh38: 10:47143-47143
13 TUBB8 NM_177987.3(TUBB8):c.527C>T SNV Pathogenic 223143 rs869025609 GRCh37: 10:93805-93805
GRCh38: 10:47865-47865
14 TUBB8 NM_177987.3(TUBB8):c.938C>T (p.Ala313Val) SNV Likely pathogenic 977674 GRCh37: 10:93394-93394
GRCh38: 10:47454-47454
15 TUBB8 NM_177987.3(TUBB8):c.1130T>C (p.Leu377Pro) SNV Likely pathogenic 977675 GRCh37: 10:93202-93202
GRCh38: 10:47262-47262
16 TUBB8 NM_177987.3(TUBB8):c.613G>A (p.Glu205Lys) SNV Likely pathogenic 977676 GRCh37: 10:93719-93719
GRCh38: 10:47779-47779
17 TUBB8 NM_177987.3(TUBB8):c.1045G>A (p.Val349Ile) SNV Likely pathogenic 977677 GRCh37: 10:93287-93287
GRCh38: 10:47347-47347
18 TUBB8 NM_177987.3(TUBB8):c.10A>C (p.Ile4Leu) SNV Likely pathogenic 977678 GRCh37: 10:95169-95169
GRCh38: 10:49229-49229
19 TUBB8 NM_177987.3(TUBB8):c.1139G>A (p.Arg380His) SNV Likely pathogenic 977679 GRCh37: 10:93193-93193
GRCh38: 10:47253-47253
20 TUBB8 NM_177987.3(TUBB8):c.893A>G (p.Asn298Ser) SNV Likely pathogenic 977680 GRCh37: 10:93439-93439
GRCh38: 10:47499-47499
21 TUBB8 NM_177987.3(TUBB8):c.940G>T (p.Ala314Ser) SNV Likely pathogenic 977681 GRCh37: 10:93392-93392
GRCh38: 10:47452-47452
22 TUBB8 NM_177987.3(TUBB8):c.728C>T (p.Pro243Leu) SNV Likely pathogenic 977668 GRCh37: 10:93604-93604
GRCh38: 10:47664-47664
23 TUBB8 NM_177987.3(TUBB8):c.292G>A (p.Gly98Arg) SNV Likely pathogenic 977669 GRCh37: 10:94040-94040
GRCh38: 10:48100-48100
24 TUBB8 NM_177987.3(TUBB8):c.1172G>A (p.Arg391His) SNV Likely pathogenic 977670 GRCh37: 10:93160-93160
GRCh38: 10:47220-47220
25 TUBB8 NM_177987.3(TUBB8):c.1073C>T (p.Pro358Leu) SNV Likely pathogenic 977671 GRCh37: 10:93259-93259
GRCh38: 10:47319-47319
26 TUBB8 NM_177987.3(TUBB8):c.535G>A (p.Val179Met) SNV Likely pathogenic 977672 GRCh37: 10:93797-93797
GRCh38: 10:47857-47857
27 TUBB8 NM_177987.3(TUBB8):c.735G>C (p.Gln245His) SNV Likely pathogenic 684762 rs1588270347 GRCh37: 10:93597-93597
GRCh38: 10:47657-47657
28 TUBB8 NM_177987.3(TUBB8):c.394G>T (p.Gly132Cys) SNV Likely pathogenic 977653 GRCh37: 10:93938-93938
GRCh38: 10:47998-47998
29 TUBB8 NM_177987.3(TUBB8):c.422G>C (p.Gly141Ala) SNV Likely pathogenic 977654 GRCh37: 10:93910-93910
GRCh38: 10:47970-47970
30 TUBB8 NM_177987.3(TUBB8):c.1189T>G (p.Trp397Gly) SNV Likely pathogenic 977655 GRCh37: 10:93143-93143
GRCh38: 10:47203-47203
31 TUBB8 NM_177987.3(TUBB8):c.1163T>C (p.Met388Thr) SNV Likely pathogenic 977656 GRCh37: 10:93169-93169
GRCh38: 10:47229-47229
32 TUBB8 NM_177987.3(TUBB8):c.367G>A (p.Glu123Lys) SNV Likely pathogenic 977657 GRCh37: 10:93965-93965
GRCh38: 10:48025-48025
33 TUBB8 NM_177987.3(TUBB8):c.539T>C (p.Val180Ala) SNV Likely pathogenic 977658 GRCh37: 10:93793-93793
GRCh38: 10:47853-47853
34 TUBB8 NM_177987.3(TUBB8):c.550A>G (p.Asn184Asp) SNV Likely pathogenic 977659 GRCh37: 10:93782-93782
GRCh38: 10:47842-47842
35 TUBB8 NM_177987.3(TUBB8):c.1242C>G (p.Asn414Lys) SNV Likely pathogenic 977660 GRCh37: 10:93090-93090
GRCh38: 10:47150-47150
36 TUBB8 NM_177987.3(TUBB8):c.1271A>G (p.Gln424Arg) SNV Likely pathogenic 977661 GRCh37: 10:93061-93061
GRCh38: 10:47121-47121
37 TUBB8 NM_177987.3(TUBB8):c.1178C>A (p.Ala393Asp) SNV Likely pathogenic 977662 GRCh37: 10:93154-93154
GRCh38: 10:47214-47214
38 TUBB8 NM_177987.3(TUBB8):c.629T>A (p.Ile210Lys) SNV Likely pathogenic 977663 GRCh37: 10:93703-93703
GRCh38: 10:47763-47763
39 TUBB8 NM_177987.3(TUBB8):c.136C>T (p.Arg46Cys) SNV Likely pathogenic 977664 GRCh37: 10:94774-94774
GRCh38: 10:48834-48834
40 TUBB8 NM_177987.3(TUBB8):c.544C>T (p.Pro182Ser) SNV Likely pathogenic 977665 GRCh37: 10:93788-93788
GRCh38: 10:47848-47848
41 TUBB8 NM_177987.3(TUBB8):c.594G>C (p.Glu198Asp) SNV Likely pathogenic 977666 GRCh37: 10:93738-93738
GRCh38: 10:47798-47798
42 TUBB8 NM_177987.3(TUBB8):c.845G>C (p.Arg282Pro) SNV Uncertain significance 805949 rs576662836 GRCh37: 10:93487-93487
GRCh38: 10:47547-47547

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

72 (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

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
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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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