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RKH SYNDROME
MCID: MYR002
MIFTS: 61
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Mayer-Rokitansky-Kuster-Hauser Syndrome (RKH SYNDROME)
Categories:
Ear diseases, Fetal diseases, Nephrological diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Mayer-Rokitansky-Kuster-Hauser Syndrome:
Characteristics:Orphanet epidemiological data:59
mayer-rokitansky-küster-hauser syndrome type 1
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adolescent,Antenatal; Age of death: normal life expectancy;
mayer-rokitansky-küster-hauser syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Worldwide); Age of onset: Adolescent,Antenatal; Age of death: normal life expectancy; HPO:32
mayer-rokitansky-kuster-hauser syndrome:
Inheritance autosomal recessive inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Fetal diseases Rare diseases Anatomical: Nephrological diseases Reproductive diseases Ear diseases
ICD10:
34
Orphanet: 59
Rare renal diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Developmental anomalies during embryogenesis
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OMIM
:
57
Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by utero-vaginal atresia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Anomalies of the genital tract range from upper vaginal atresia to total mullerian agenesis with urinary tract abnormalities. It has an incidence of approximately 1 in 5,000 newborn girls (Cheroki et al., 2006).
The abnormality of sexual development in MRKH syndrome is the same as that in the MURCS association (601076), in which cervicothoracic somite anomalies, unilateral renal agenesis, and conductive deafness are also seen. Mullerian aplasia and hyperandrogenism (158330) is caused by mutation in the WNT4 gene (603490). Familial cases of unilateral or bilateral renal agenesis in combination with mullerian anomalies have also been reported (see urogenital adysplasia, 191830). (277000)
MalaCards based summary : Mayer-Rokitansky-Kuster-Hauser Syndrome, also known as mrkh syndrome, is related to murcs association and hypoplastic thumb mullerian aplasia. An important gene associated with Mayer-Rokitansky-Kuster-Hauser Syndrome is LHX1 (LIM Homeobox 1), and among its related pathways/superpathways are Wnt signaling pathway and PI3K-Akt signaling pathway. The drugs Tacrolimus and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include uterus, ovary and cervix, and related phenotypes are ectopic kidney and abnormal form of the vertebral bodies Genetics Home Reference : 25 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, although external genitalia are normal. 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 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 : 75 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. Wikipedia : 76 Müllerian agenesis, also known as Mayer�??Rokitansky�??Küster�??Hauser syndrome (MRKH) or vaginal... more... |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:277000Human phenotypes related to Mayer-Rokitansky-Kuster-Hauser Syndrome:59 32 (show all 14)
GenomeRNAi Phenotypes related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to GeneCards Suite gene sharing:26 (show all 36)
MGI Mouse Phenotypes related to Mayer-Rokitansky-Kuster-Hauser Syndrome:46 (show all 12)
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Drugs for Mayer-Rokitansky-Kuster-Hauser Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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Genetic tests related to Mayer-Rokitansky-Kuster-Hauser Syndrome:
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MalaCards organs/tissues related to Mayer-Rokitansky-Kuster-Hauser Syndrome:41
Uterus,
Ovary,
Cervix,
Kidney,
Breast,
Lung,
Colon
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Articles related to Mayer-Rokitansky-Kuster-Hauser Syndrome:(show top 50) (show all 162)
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Genes related to Mayer-Rokitansky-Kuster-Hauser Syndrome (0 elite genes):(show all 15) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Mayer-Rokitansky-Kuster-Hauser Syndrome:6
Copy number variations for Mayer-Rokitansky-Kuster-Hauser Syndrome from CNVD:7
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Search
GEO
for disease gene expression data for Mayer-Rokitansky-Kuster-Hauser Syndrome.
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Pathways related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to KEGG:37
Pathways related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to GeneCards Suite gene sharing:(show all 25)
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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 82)
Molecular functions related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to GeneCards Suite gene sharing:
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