MCID: MYR005
MIFTS: 12

Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1

Categories: Fetal diseases, Nephrological diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1

MalaCards integrated aliases for Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1:

Name: Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1 12
Rokitansky Sequence 12 20
Congenital Absence of Uterus and Vagina 12
Mrkh Syndrome Type 1 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0112178

Summaries for Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1

Disease Ontology : 12 A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype.

MalaCards based summary : Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1, also known as rokitansky sequence, is related to mayer-rokitansky-kuster-hauser syndrome and renal hypodysplasia/aplasia 1. Affiliated tissues include uterus.

Related Diseases for Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1

Diseases in the Mayer-Rokitansky-Kuster-Hauser Syndrome family:

Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1

Diseases related to Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 mayer-rokitansky-kuster-hauser syndrome 11.6
2 renal hypodysplasia/aplasia 1 10.2
3 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 10.2
4 amenorrhea 10.2
5 gonadal dysgenesis 10.2
6 cleft palate, isolated 9.9
7 macrostomia, isolated 9.9
8 ventricular septal defect 9.9
9 heart septal defect 9.9
10 renal dysplasia 9.9
11 microtia 9.9

Graphical network of the top 20 diseases related to Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1:



Diseases related to Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1

Symptoms & Phenotypes for Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1

Drugs & Therapeutics for Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1

Search Clinical Trials , NIH Clinical Center for Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1

Genetic Tests for Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1

Anatomical Context for Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1

MalaCards organs/tissues related to Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1:

40
Uterus

Publications for Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1

Articles related to Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1:

# Title Authors PMID Year
1
Facio-auriculo-vertebral sequence in association with DiGeorge sequence, Rokitansky sequence, and Dandy-Walker malformation: case report. 61
14692650 2003
2
Bilateral femoral hypoplasia associated with Rokitansky sequence: another example of a mesodermal malformation spectrum? 61
8116669 1994
3
Oculo-auriculo-vertebral complex and uncommon associated anomalies: report on 8 unrelated Brazilian patients. 61
1481833 1992
4
Rokitansky sequence in association with the facio-auriculo-vertebral sequence: part of a mesodermal malformation spectrum? 61
2240024 1990

Variations for Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1

Expression for Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1

Search GEO for disease gene expression data for Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1.

Pathways for Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1

GO Terms for Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1

Sources for Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1

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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