Mayer-Rokitansky-Kuster-Hauser Syndrome malady
Categories: Genetic diseases, Nephrological diseases, Reproductive diseases, Fetal diseases, Rare diseases, Ear diseases
Aliases & Descriptions for Mayer-Rokitansky-Kuster-Hauser Syndrome:
Orphanet epidemiological data:52
congenital absence of uterus and vagina:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adolescent,Antenatal; Age of death: normal life expectancy
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Worldwide); Age of onset: Adolescent,Antenatal; Age of death: normal life expectancy
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Nephrological diseases, Reproductive diseases, Ear diseases
Rare renal diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Developmental anomalies during embryogenesis
OMIM:50 Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by utero-vaginal atresia in an otherwise phenotypically... (277000) more...
MalaCards based summary: Mayer-Rokitansky-Kuster-Hauser Syndrome, also known as mrkh syndrome, is related to mullerian aplasia and hyperandrogenism and rokitansky sequence, and has symptoms including abnormality of female internal genitalia, abnormal form of the vertebral bodies and abnormality of the sacrum. An important gene associated with Mayer-Rokitansky-Kuster-Hauser Syndrome is WNT4 (Wnt Family Member 4), and among its related pathways are Negative regulation of TCF-dependent signaling by WNT ligand antagonists and Wnt signaling network. Affiliated tissues include uterus, ovary and breast, and related mouse phenotypes are muscle and limbs/digits/tail.
Genetics Home Reference:24 Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder that occurs in females and mainly affects the reproductive system. This condition causes the vagina and uterus to be underdeveloped or absent. Affected women usually do not have menstrual periods due to the absent uterus. Often, the first noticeable sign of MRKH syndrome is that menstruation does not begin by age 16 (primary amenorrhea). Women with MRKH syndrome have a female chromosome pattern (46,XX) and normally functioning ovaries. They also have normal female external genitalia and normal breast and pubic hair development. Although women with this condition are usually unable to carry a pregnancy, they may be able to have children through assisted reproduction.
UniProtKB/Swiss-Prot:68 Rokitansky-Kuster-Hauser syndrome: Characterized by utero-vaginal atresia in otherwise phenotypically normal female with a normal 46,XX karyotype. Anomalies of the genital tract range from upper vaginal atresia to total Muellerian agenesis with urinary tract abnormalities. It has an incidence of approximately 1 in 5'000 newborn girls.
Symptoms by clinical synopsis from OMIM:277000
Clinical features from OMIM:277000
Symptoms:52 (show all 10)
HPO human phenotypes related to Mayer-Rokitansky-Kuster-Hauser Syndrome:(show all 8)
MalaCards organs/tissues related to Mayer-Rokitansky-Kuster-Hauser Syndrome:34
Uterus, Ovary, Breast, Kidney, Cervix, Lung, Colon
MGI Mouse Phenotypes related to Mayer-Rokitansky-Kuster-Hauser Syndrome:39 (show all 12)
Articles related to Mayer-Rokitansky-Kuster-Hauser Syndrome:(show top 50) (show all 102)
Copy number variations for Mayer-Rokitansky-Kuster-Hauser Syndrome from CNVD:6
Search GEO for disease gene expression data for Mayer-Rokitansky-Kuster-Hauser Syndrome.
Pathways related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to GeneCards Suite gene sharing:(show all 19)
Cellular components related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to GeneCards Suite gene sharing:(show top 50) (show all 70)
Molecular functions related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet