{"Name":"Mayer-Rokitansky-Küster-Hauser syndrome type 2","DiseaseID__c":"GARD:0005513","id":5513,"encodedName":"mayer-rokitansky-kster-hauser-syndrome-type-2","IsDeleted":false,"Disease_Name_Full__c":"Mayer-Rokitansky-Küster-Hauser syndrome type 2","Xref_IDs__c":"717705004; C4305568; DOID:0112179; MEDGEN:931237; MONDO:0010989; OMIM:601076; ORPHA:2578","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0010989","Disease_Description__c":"A form of Mayer-Rokitansky-Küster-Hauser syndrome, characterized by congenital aplasia of the uterus and upper two-thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects.","GARD_Name__c":"Mayer-Rokitansky-Küster-Hauser syndrome type 2","GARD_Synonym__c":"atypical mrkh (mayer rokitansky kuster hauser) syndrome; atypical mrkh syndrome; klippel-feil deformity, conductive deafness, and absent vagina; mayer-rokitansky-kuster-hauser syndrome, type ii; mrkh syndrome type 2; mrkh, type ii; mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; mullerian duct aplasia, renal dysplasia, cervical somite anomalies syndrome; mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies; murcs association; müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome","Curated_Disease_Description_Source__c":"GARD:0005513","Curated_Disease_Description__c":"Mayer-Rokitansky-Küster-Hauser syndrome type 2 is a developmental disorder that primarily affects the reproductive and urinary systems. Most individuals with Mayer-Rokitansky-Küster-Hauser syndrome type 2 are female, although males can also have this condition. Females with Mayer-Rokitansky-Küster-Hauser syndrome type 2 can have an absent or abnormally shaped uterus. In rare cases, the vagina is also affected. Both males and females with Mayer-Rokitansky-Küster-Hauser syndrome type 2 can have absent or abnormally formed reproductive tubes (usually the fallopian tubes in females and the vas deferens in males), kidney abnormalities, and short stature (adult height of less than 5 feet).  Additional symptoms might include fused spinal bones in the neck and upper back and hearing loss. These symptoms may vary from person to person. Mayer-Rokitansky-Küster-Hauser syndrome type 2 may not be noticed until after puberty.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:2578","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010989","ORPHANET_ID__c":"ORPHA:2578","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de mayer-rokitansky-küster-hauser tipo 2","Spanish_Description_Source__c":"ORPHA:2578","Spanish_Description__c":"El síndrome de Mayer-Rokitansky-Küster-Hauser (MRKH) tipo 2, una forma del síndrome de MRKH (consulte este término), se caracteriza por aplasia congénita del útero y de los 2/3 superiores de la vagina, estando asociado además con al menos otra malformación ya sea renal, vertebral, u ocasionalmente, defectos auditivos y cardiacos. El acrónimo MURCS (aplasia del conducto MUlleriano, displasia Renal, anomalías de los Somitas Cervicales) también se utiliza.","Spanish_Disease_Name__c":"síndrome de mayer-rokitansky-küster-hauser tipo 2","Spanish_GARD_Synonym__c":"asociación murcs; síndrome de aplasia del conducto mülleriano-displasia renal-anomalías de los somitas cervicales; síndrome de mrkh atípico; síndrome mrkh tipo 2","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 syndrome type 2 is a developmental disorder that primarily affects the reproductive and urinary systems. Most individuals with Mayer-Rokitansky-Küster-Hauser syndrome type 2 are female, although males can also have this condition. Females with Mayer-Rokitansky-Küster-Hauser syndrome type 2 can have an absent or abnormally shaped uterus. In rare cases, the vagina is also affected. Both males and females with Mayer-Rokitansky-Küster-Hauser syndrome type 2 can have absent or abnormally formed reproductive tubes (usually the fallopian tubes in females and the vas deferens in males), kidney abnormalities, and short stature (adult height of less than 5 feet).  Additional symptoms might include fused spinal bones in the neck and upper back and hearing loss. These symptoms may vary from person to person. Mayer-Rokitansky-Küster-Hauser syndrome type 2 may not be noticed until after puberty.","Curated_Disease_Description_Source__c":"GARD:0005513","GARD_Synonym__c":"atypical mrkh (mayer rokitansky kuster hauser) syndrome; atypical mrkh syndrome; klippel-feil deformity, conductive deafness, and absent vagina; mayer-rokitansky-kuster-hauser syndrome, type ii; mrkh syndrome type 2; mrkh, type ii; mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; mullerian duct aplasia, renal dysplasia, cervical somite anomalies syndrome; mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies; murcs association; müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome","Name":"Mayer-Rokitansky-Küster-Hauser syndrome type 2","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal 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":"Antenatal","Provided_By__c":"ORPHA:2578"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:2578"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2578"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/601076","Source__c":"C4305568; MONDO:0010989; ORPHA:2578","Xref__c":"OMIM:601076"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=931237","Source__c":"C4305568","Xref__c":"MEDGEN:931237"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112179","Source__c":"MONDO:0010989","Xref__c":"DOID:0112179"},{"URL__c":"https://www.orpha.net/en/disease/detail/2578","Source__c":"C4305568; MONDO:0010989; ORPHA:2578","Xref__c":"ORPHA:2578"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717705004","Source__c":"C4305568; MONDO:0010989","Xref__c":"717705004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4305568","Source__c":"C4305568","Xref__c":"C4305568"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010989","Source__c":"GARD:0005513","Xref__c":"MONDO:0010989"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HNF1B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hnf1b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"WNT4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/wnt4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2578","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or developmental hypoplasia of the uterus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008684","HPO_Synonym__c":"Absent/small uterus; Absent/underdeveloped uterus","HPO_Name__c":"Aplasia/hypoplasia of the uterus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2578","HPO_Frequency__c":"Very frequent (80-99%)","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:2578","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2578","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Agenesis, that is, failure of the kidney to develop during embryogenesis and development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000104","HPO_Synonym__c":"Absent kidney; Missing kidney; Renal aplasia","HPO_Name__c":"Renal agenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2578","HPO_Frequency__c":"Frequent (30-79%)","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:2578","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminished length of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000470","HPO_Synonym__c":"Decreased length of neck; Short neck","HPO_Name__c":"Short neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2578","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of a bicornuate uterus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000813","HPO_Synonym__c":"Heart shaped uterus; Heart-shaped uterus; Uterus bicornis","HPO_Name__c":"Bicornuate uterus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2578","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000027","HPO_Synonym__c":"Absent sperm in semen","HPO_Name__c":"Azoospermia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2578","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hair on the neck extends more inferiorly than usual.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002162","HPO_Synonym__c":"Low hairline at back of neck; Low posterior hair line","HPO_Name__c":"Low posterior hairline","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2578","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the rib.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000772","HPO_Synonym__c":"Abnormality of the ribs; Rib abnormalities; Rib anomalies","HPO_Name__c":"Abnormal rib morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2578","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000110","HPO_Synonym__c":"Dysplastic kidneys; Renal adysplasia","HPO_Name__c":"Renal dysplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2578","HPO_Frequency__c":"Occasional (5-29%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Gastroenterology","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Nephrology","Gastroenterology","Obstetrics / Gynecology","Urologist","Pediatrics"],"Account":["Nephrology","Infertility"]},"synonyms":["atypical mrkh (mayer rokitansky kuster hauser) syndrome"," atypical mrkh syndrome"," klippel-feil deformity, conductive deafness, and absent vagina"," mayer-rokitansky-kuster-hauser syndrome, type ii"," mrkh syndrome type 2"," mrkh, type ii"," mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome"," mullerian duct aplasia, renal dysplasia, cervical somite anomalies syndrome"," mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies"," murcs association"," müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome"]}