{"Name":"Mayer-Rokitansky-Kuster-Hauser syndrome","DiseaseID__c":"GARD:0005445","id":5445,"encodedName":"mayer-rokitansky-kuster-hauser-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Mayer-Rokitansky-Kuster-Hauser syndrome","Xref_IDs__c":"8793008; C0431648; C124853; DOID:0112177; MEDGEN:140915; MONDO:0017771; ORPHA:3109","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017771","Disease_Description__c":"A rare spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).","GARD_Name__c":"Mayer-Rokitansky-Kuster-Hauser syndrome","GARD_Synonym__c":"cauv; congenital absence of uterus and vagina; mayer rokitansky küster hauser syndrome; mayer-rokitansky-küster-hauser syndrome; mrkh; mrkh syndrome; mullerian aplasia/dysgenesis; rokitansky kuster hauser syndrome; rokitansky sequence; rokitansky syndrome","Curated_Disease_Description_Source__c":"ORPHA:3109","Curated_Disease_Description__c":"Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder that causes the vagina and uterus to be underdeveloped or absent. Without a uterus, affected women do not have menstrual periods. Often, the first noticeable sign of MRKH syndrome is that menstruation does not begin by age 15 (primary amenorrhea). Girls and women with MRKH syndrome have a 46,XX chromosome pattern. They have normal external genitalia and functioning ovaries. They also have normal breast and pubic hair development. Although women with this condition are unable to carry a pregnancy, they may be able to have children with the help of assisted reproductive technologies or a uterus transplant. MRKH syndrome is often divided into two types. MRKH syndrome type 1 affects only the reproductive organs. MRKH syndrome type 2 also affects other parts of the body. In this form of the condition, the kidneys may be abnormally formed or positioned, or one kidney may fail to develop (unilateral renal agenesis). Additionally, hearing loss, heart defects, or skeletal abnormalities, particularly of the spinal bones (vertebrae), can occur in those with MRKH syndrome type 2.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Teenager","SourceID__c":"ORPHA:3109","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017771","ORPHANET_ID__c":"ORPHA:3109","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de mayer-rokitansky-küster-hauser","Spanish_Description_Source__c":"ORPHA:3109","Spanish_Description__c":"El síndrome de Mayer-Rokitansky-Küster-Hauser (MRKH) describe un espectro de anomalías del conducto mulleriano caracterizado por aplasia congénita del útero y de los 2/3 superiores de la vagina en mujeres que por lo demás son fenotípicamente normales. Se clasifica bien como síndrome de MRKH tipo 1 (correspondiente a aplasia uterovaginal aislada) o como síndrome de MRKH de tipo 2 (aplasia uterovaginal asociada con otras malformaciones) (consulte estos términos).","Spanish_Disease_Name__c":"síndrome de mayer-rokitansky-küster-hauser","Spanish_GARD_Synonym__c":"síndrome de rokitansky; síndrome mrkh","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder that causes the vagina and uterus to be underdeveloped or absent. Without a uterus, affected women do not have menstrual periods. Often, the first noticeable sign of MRKH syndrome is that menstruation does not begin by age 15 (primary amenorrhea). Girls and women with MRKH syndrome have a 46,XX chromosome pattern. They have normal external genitalia and functioning ovaries. They also have normal breast and pubic hair development. Although women with this condition are unable to carry a pregnancy, they may be able to have children with the help of assisted reproductive technologies or a uterus transplant. MRKH syndrome is often divided into two types. MRKH syndrome type 1 affects only the reproductive organs. MRKH syndrome type 2 also affects other parts of the body. In this form of the condition, the kidneys may be abnormally formed or positioned, or one kidney may fail to develop (unilateral renal agenesis). Additionally, hearing loss, heart defects, or skeletal abnormalities, particularly of the spinal bones (vertebrae), can occur in those with MRKH syndrome type 2.","Curated_Disease_Description_Source__c":"ORPHA:3109","GARD_Synonym__c":"cauv; congenital absence of uterus and vagina; mayer rokitansky küster hauser syndrome; mayer-rokitansky-küster-hauser syndrome; mrkh; mrkh syndrome; mullerian aplasia/dysgenesis; rokitansky kuster hauser syndrome; rokitansky sequence; rokitansky syndrome","Name":"Mayer-Rokitansky-Kuster-Hauser syndrome","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Kidney Foundation","Website__c":"https://www.kidney.org/"},{"Account_Name__c":"The MAGIC Foundation","Website__c":"https://www.magicfoundation.org/"},{"Account_Name__c":"InterConnect","Website__c":"https://interconnect.support/"},{"Account_Name__c":"Resolve: The National Infertility Association","Website__c":"https://resolve.org/"},{"Account_Name__c":"Accord Alliance","Website__c":"http://www.accordalliance.org/"},{"Account_Name__c":"Beautiful You MRKH Foundation","Website__c":"https://www.beautifulyoumrkh.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:3109"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:3109"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0431648","Source__c":"C0431648","Xref__c":"C0431648"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=140915","Source__c":"C0431648","Xref__c":"MEDGEN:140915"},{"URL__c":"https://www.orpha.net/en/disease/detail/3109","Source__c":"C0431648; MONDO:0017771; ORPHA:3109","Xref__c":"ORPHA:3109"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112177","Source__c":"MONDO:0017771","Xref__c":"DOID:0112177"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=8793008","Source__c":"MONDO:0017771","Xref__c":"8793008"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C124853","Source__c":"C0431648; MONDO:0017771","Xref__c":"C124853"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1354648006","Source__c":"C0431648","Xref__c":"1354648006"},{"URL__c":"https://medlineplus.gov/genetics/condition/mayer-rokitansky-kuster-hauser-syndrome","Source__c":"GARD:0005445","Xref__c":"https://medlineplus.gov/genetics/condition/mayer-rokitansky-kuster-hauser-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017771","Source__c":"GARD:0005445","Xref__c":"MONDO:0017771"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3109","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal morphology of vertebral body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003312","HPO_Synonym__c":"Abnormal vertebral bodies; Abnormally shaped vertebrae","HPO_Name__c":"Abnormal form of the vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3109","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality related to a defect of vertebral separation during development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003422","HPO_Synonym__c":"Abnormal spinal segmentation","HPO_Name__c":"Vertebral segmentation defect","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3109","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A congenital defect characterized by absence of the uterus. Aplasia refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000151","HPO_Synonym__c":"Absent uterus; uterus absent","HPO_Name__c":"Aplasia of the uterus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3109","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001642","HPO_Synonym__c":"Narrowing of pulmonic valve; Pulmonary stenosis; Pulmonary valve stenosis; Pulmonic valve stenosis","HPO_Name__c":"Pulmonic stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3109","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3109","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Aplasia, that is failure to develop, of the ovary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010463","HPO_Synonym__c":"Absent ovary","HPO_Name__c":"Aplasia of the ovary","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3109","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000077","HPO_Synonym__c":"Abnormal kidney; Abnormality of the kidney; Renal anomalies; Renal anomaly","HPO_Name__c":"Abnormality of the kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3109","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Recurrent or persistent genital pain associated with sexual intercourse.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030016","HPO_Name__c":"Dyspareunia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3109","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental defect in which a kidney is located in an abnormal anatomic position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000086","HPO_Synonym__c":"Abnormal kidney location; Displaced kidney; Ectopic kidneys; Renal ectopia","HPO_Name__c":"Ectopic kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3109","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001631","HPO_Synonym__c":"An opening in the wall separating the top two chambers of the heart; ASD; Atria septal defect; Atrial septum defect; Atrioseptal defect; Defect in the atrial septum; Hole in heart wall separating two upper heart chambers","HPO_Name__c":"Atrial septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3109","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000786","HPO_Name__c":"Primary amenorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3109","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The growth of endometrial tissue outside the uterus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030127","HPO_Name__c":"Endometriosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3109","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031703","HPO_Name__c":"Abnormal ear morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3109","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031086","HPO_Synonym__c":"Undescended ovary","HPO_Name__c":"Ectopic ovary","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3109","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the vagina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008726","HPO_Synonym__c":"Hypoplastic vagina; Rudimentary vagina; Underdeveloped vagina","HPO_Name__c":"Hypoplasia of the vagina","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3109","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000085","HPO_Synonym__c":"Horseshoe kidney; Horseshoe kidneys","HPO_Name__c":"Horseshoe kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3109","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A unilateral form of agenesis of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000122","HPO_Synonym__c":"Absent kidney on one side; Missing one kidney; Single kidney; Unilateral kidney agenesis","HPO_Name__c":"Unilateral renal agenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3109","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3109","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the sacral bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005107","HPO_Synonym__c":"Abnormality of the sacrum","HPO_Name__c":"Abnormal sacrum morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3109","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental defect leading to the union of two adjacent vertebrae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002948","HPO_Synonym__c":"Congenital spinal fusion; Congenitally fused vertebrae; Fusion of vertebral bodies; Vertebral body fusion","HPO_Name__c":"Vertebral fusion","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3109","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000739","HPO_Synonym__c":"Anxiety; Anxiousness; Excessive, persistent worry and fear","HPO_Name__c":"Anxiety","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3109","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Chronic compulsive drug seeking and continued use despite harmful consequences.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033511","HPO_Synonym__c":"Addictive drug use; Drug addiction","HPO_Name__c":"Addictive substance use","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3109","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000716","HPO_Synonym__c":"Depression; Depressive episode; Depressivity","HPO_Name__c":"Depression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3109","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bipolar disorder is an illness of mood characterized by alternating episodes of elevated and depressed moods, which are interspersed with euthymic periods.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007302","HPO_Synonym__c":"Bipolar depression; Bipolar disorder; Manic depressive","HPO_Name__c":"Bipolar affective disorder","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Nephrology","Obstetrics / Gynecology","Urologist","Pediatrics"],"Account":["Nephrology","Infertility"]},"synonyms":["cauv"," congenital absence of uterus and vagina"," mayer rokitansky küster hauser syndrome"," mayer-rokitansky-küster-hauser syndrome"," mrkh"," mrkh syndrome"," mullerian aplasia/dysgenesis"," rokitansky kuster hauser syndrome"," rokitansky sequence"," rokitansky syndrome"]}