{"Name":"Mullerian aplasia and hyperandrogenism","DiseaseID__c":"GARD:0017195","id":17195,"encodedName":"mullerian-aplasia-and-hyperandrogenism","IsDeleted":false,"Disease_Name_Full__c":"Mullerian aplasia and hyperandrogenism","Xref_IDs__c":"C120376; C2675014; C567186; DOID:0111526; MEDGEN:390686; MONDO:0008019; OMIM:158330; ORPHA:247768","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008019","Disease_Description__c":"Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina.","GARD_Name__c":"Mullerian aplasia and hyperandrogenism","GARD_Synonym__c":"mullerian duct failure and hyperandrogenism; müllerian aplasia and hyperandrogenism; müllerian duct failure and hyperandrogenism; wnt4 deficiency","Curated_Disease_Description_Source__c":"ORPHA:247768","Curated_Disease_Description__c":"Müllerian aplasia and hyperandrogenism is a condition that affects the reproductive system in females. This condition is caused by abnormal development of the Müllerian ducts, which are structures in the embryo that develop into the uterus, fallopian tubes, cervix, and the upper part of the vagina. Individuals with Müllerian aplasia and hyperandrogenism typically have an underdeveloped or absent uterus and may also have abnormalities of other reproductive organs. Women with this condition have normal female external genitalia, and they develop breasts and pubic hair normally at puberty; however, they do not begin menstruation by age 16 (primary amenorrhea) and will likely never have a menstrual period. Affected women are unable to have children (infertile). Women with Müllerian aplasia and hyperandrogenism have higher-than-normal levels of male sex hormones called androgens in their blood (hyperandrogenism), which can cause acne and excessive facial hair (facial hirsutism). Kidney abnormalities may be present in some affected individuals.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:247768","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008019","ORPHANET_ID__c":"ORPHA:247768","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aplasia mulleriana e hiperandrogenismo","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"aplasia mulleriana e hiperandrogenismo","Spanish_GARD_Synonym__c":"deficiencia de wnt4; fallo en el conducto mulleriano e hiperandrogenismo","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":"Müllerian aplasia and hyperandrogenism is a condition that affects the reproductive system in females. This condition is caused by abnormal development of the Müllerian ducts, which are structures in the embryo that develop into the uterus, fallopian tubes, cervix, and the upper part of the vagina. Individuals with Müllerian aplasia and hyperandrogenism typically have an underdeveloped or absent uterus and may also have abnormalities of other reproductive organs. Women with this condition have normal female external genitalia, and they develop breasts and pubic hair normally at puberty; however, they do not begin menstruation by age 16 (primary amenorrhea) and will likely never have a menstrual period. Affected women are unable to have children (infertile). Women with Müllerian aplasia and hyperandrogenism have higher-than-normal levels of male sex hormones called androgens in their blood (hyperandrogenism), which can cause acne and excessive facial hair (facial hirsutism). Kidney abnormalities may be present in some affected individuals.","Curated_Disease_Description_Source__c":"ORPHA:247768","GARD_Synonym__c":"mullerian duct failure and hyperandrogenism; müllerian aplasia and hyperandrogenism; müllerian duct failure and hyperandrogenism; wnt4 deficiency","Name":"Mullerian aplasia and hyperandrogenism","estimateUsa":""}],"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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine 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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:247768"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:247768"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111526","Source__c":"MONDO:0008019","Xref__c":"DOID:0111526"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C120376","Source__c":"C2675014; MONDO:0008019","Xref__c":"C120376"},{"URL__c":"https://www.omim.org/entry/158330","Source__c":"C2675014; MONDO:0008019; ORPHA:247768","Xref__c":"OMIM:158330"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567186","Source__c":"MONDO:0008019","Xref__c":"C567186"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=390686","Source__c":"C2675014","Xref__c":"MEDGEN:390686"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2675014","Source__c":"C2675014","Xref__c":"C2675014"},{"URL__c":"https://www.orpha.net/en/disease/detail/247768","Source__c":"C2675014; MONDO:0008019; ORPHA:247768","Xref__c":"ORPHA:247768"},{"URL__c":"https://medlineplus.gov/genetics/condition/mullerian-aplasia-and-hyperandrogenism","Source__c":"GARD:0017195","Xref__c":"https://medlineplus.gov/genetics/condition/mullerian-aplasia-and-hyperandrogenism"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008019","Source__c":"GARD:0017195","Xref__c":"MONDO:0008019"}],"GARD_Disease_Gene__c":[{"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:247768","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the ovary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000137","HPO_Synonym__c":"Abnormality of the ovaries; Abnormality of the ovary","HPO_Name__c":"Abnormality of the ovary","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247768","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Accumulation of substantial excess body fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001513","HPO_Synonym__c":"Having too much body fat; Obesity","HPO_Name__c":"Obesity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247768","HPO_Frequency__c":"Occasional (5-29%)","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:247768","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Excess facial hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009937","HPO_Name__c":"Facial hirsutism","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247768","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal positioning in which the elbows are turned out.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002967","HPO_Synonym__c":"Outward turned elbows","HPO_Name__c":"Cubitus valgus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247768","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247768","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247768","HPO_Frequency__c":"Occasional (5-29%)","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:247768","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of hair in the anterior midline and/or parietal areas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002292","HPO_Synonym__c":"Frontal balding","HPO_Name__c":"Frontal balding","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247768","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:247768","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased density/number and/or increased diameter of eyebrow hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000574","HPO_Synonym__c":"Bushy eyebrows; Dense eyebrow; Heavy eyebrows; Hypertrichosis of the eyebrow; Prominent eyebrows; Thick eyebrow; Thick eyebrows","HPO_Name__c":"Thick eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247768","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000322","HPO_Synonym__c":"Decreased height of philtrum; Decreased length of philtrum; Decreased vertical dimension of philtrum; Vertical hypoplasia of philtrum","HPO_Name__c":"Short philtrum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247768","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001061","HPO_Synonym__c":"Acne","HPO_Name__c":"Acne","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247768","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000411","HPO_Synonym__c":"Prominent ear; Prominent ears","HPO_Name__c":"Protruding ear","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247768","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009890","HPO_Synonym__c":"High frontal hairline","HPO_Name__c":"High anterior hairline","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247768","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001007","HPO_Synonym__c":"Excessive hairiness","HPO_Name__c":"Hirsutism","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247768","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevated circulating testosterone level in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030088","HPO_Synonym__c":"High serum testosterone level; High serum testosterone levels; Increased serum testosterone levels","HPO_Name__c":"Increased serum testosterone level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247768","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the vagina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000142","HPO_Synonym__c":"Vaginal malformation","HPO_Name__c":"Abnormal vagina morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247768","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A broad chest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000914","HPO_Synonym__c":"Shield chest","HPO_Name__c":"Shield chest","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247768","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:247768","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the uterus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000013","HPO_Synonym__c":"Hypoplastic uterus; Rudimentary uterus; Small uterus; Underdeveloped uterus","HPO_Name__c":"Hypoplasia of the uterus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247768","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Meeting of the medial eyebrows in the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000664","HPO_Synonym__c":"Monobrow; Synophris; Unibrow","HPO_Name__c":"Synophrys","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Obstetrics / Gynecology","Urologist","Pediatrics"]},"synonyms":["mullerian duct failure and hyperandrogenism"," müllerian aplasia and hyperandrogenism"," müllerian duct failure and hyperandrogenism"," wnt4 deficiency"]}