MCID: MLL009
MIFTS: 24

Mullerian Aplasia

Categories: Rare diseases, Reproductive diseases, Nephrological diseases, Ear diseases

Aliases & Classifications for Mullerian Aplasia

MalaCards integrated aliases for Mullerian Aplasia:

Name: Mullerian Aplasia 53
Congenital Absence of the Uterus and Vagina 53
Mayer-Rokitansky-Kuster-Hauser Syndrome 53
Congenital Absence of Uterus and Vagina 53
Rokitansky Kuster Hauser Syndrome 73
Genital Renal Ear Syndrome 53
Mullerian Dysgenesis 53
Rokitansky Syndrome 53
Müllerian Agenesis 53
Mrkh Syndrome 53

Classifications:



External Ids:

UMLS 73 C1698581

Summaries for Mullerian Aplasia

MalaCards based summary : Mullerian Aplasia, also known as congenital absence of the uterus and vagina, is related to mullerian aplasia and hyperandrogenism and hypoplastic thumb mullerian aplasia. An important gene associated with Mullerian Aplasia is H19 (H19, Imprinted Maternally Expressed Transcript
Methylation of H19 and its imprinted control region (H19 ICR1) in Mullerian aplasia.
Dysfunction Pattern: Epigenetics). The drugs Tacrolimus and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include uterus, cervix and ovary, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 76 Müllerian agenesis, also known as Mayer–Rokitansky–Küster–Hauser syndrome (MRKH) or vaginal agenesis, is... more...

Related Diseases for Mullerian Aplasia

Diseases related to Mullerian Aplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mullerian aplasia and hyperandrogenism 32.8 LOC105376845 WNT4
2 hypoplastic thumb mullerian aplasia 12.3
3 michels caskey syndrome 11.8
4 mayer-rokitansky-kuster-hauser syndrome 11.7
5 endometriosis 9.3 H19 WNT4

Graphical network of the top 20 diseases related to Mullerian Aplasia:



Diseases related to Mullerian Aplasia

Symptoms & Phenotypes for Mullerian Aplasia

GenomeRNAi Phenotypes related to Mullerian Aplasia according to GeneCards Suite gene sharing:

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.55 WNT4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.55 WNT4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.55 KLHL4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.55 KLHL4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.55 WNT4
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.55 KLHL4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.55 WNT4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.55 KLHL4
9 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.55 WNT4
10 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.55 KLHL4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.55 WNT4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.55 KLHL4 WNT4
13 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.55 KLHL4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.55 WNT4
15 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.55 WNT4
16 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.55 KLHL4
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.35 WNT4
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.35 KLHL4
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.35 WNT4 KLHL4
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.35 WNT4

Drugs & Therapeutics for Mullerian Aplasia

Drugs for Mullerian Aplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tacrolimus Approved, Investigational Phase 3 104987-11-3 445643 439492
2 Immunosuppressive Agents Phase 3,Not Applicable
3 Calcineurin Inhibitors Phase 3
4
Mycophenolic acid Approved Not Applicable 24280-93-1 446541
5
Mycophenolate mofetil Approved, Investigational Not Applicable 128794-94-5 5281078

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Uterus Transplantation From Live Donors and From Deceased Donors - Clinical Study Recruiting NCT03277430 Phase 3 Tacrolimus
2 Assessment of Quality of Global and Sexual Life and Impact of Surgical and Non Surgical Vaginal Aplasia in Patients With a Rokitansky Syndrome Unknown status NCT01911884 Not Applicable
3 Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser Syndrome Recruiting NCT02967822
4 Uterine Transplantation and Pregnancy Induction in Women Affected by Absolute Uterine Infertility Recruiting NCT02656550 Not Applicable

Search NIH Clinical Center for Mullerian Aplasia

Genetic Tests for Mullerian Aplasia

Anatomical Context for Mullerian Aplasia

MalaCards organs/tissues related to Mullerian Aplasia:

41
Uterus, Cervix, Ovary

Publications for Mullerian Aplasia

Articles related to Mullerian Aplasia:

# Title Authors Year
1
Identification and functional analysis of a novel LHX1 mutation associated with congenital absence of the uterus and vagina. ( 28061432 )
2017
2
HOXA10 and HOXA13 sequence variations in human female genital malformations including congenital absence of the uterus and vagina. ( 23376215 )
2013
3
Genomic imbalances associated with mullerian aplasia. ( 18039948 )
2008
4
Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina. ( 12794695 )
2003
5
The N314D polymorphism of the GALT gene is not associated with congenital absence of the uterus and vagina. ( 12606594 )
2003
6
Role for anti-MA1llerian hormone in congenital absence of the uterus and vagina. ( 11223848 )
2001

Variations for Mullerian Aplasia

Expression for Mullerian Aplasia

Search GEO for disease gene expression data for Mullerian Aplasia.

Pathways for Mullerian Aplasia

GO Terms for Mullerian Aplasia

Sources for Mullerian Aplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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