{"Name":"Partial androgen insensitivity syndrome","DiseaseID__c":"GARD:0005692","id":5692,"encodedName":"partial-androgen-insensitivity-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Partial androgen insensitivity syndrome","Xref_IDs__c":"122811000119101; C0268301; C120192; C538435; DOID:0080776; E34.52; MEDGEN:82785; MONDO:0010720; OMIM:312300; ORPHA:90797","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":0,"World_Estimate__c":null,"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":1,"Description_Source__c":"MONDO:0010720","Disease_Description__c":"A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.","GARD_Name__c":"Partial androgen insensitivity syndrome","GARD_Synonym__c":"androgen insensitivity, partial; androgen insensitivity, partial, with or without breast cancer; androgen insensitivity, partial, with or without breast cancer, x-linked recessive; androgen resistance syndrome, partial; familial incomplete male pseudohermaphroditism type 1; familial incomplete male pseudohermaphroditism, type 1; gynecomastia, familial; pais; pais - partial androgen insensitivity syndrome; partial androgen resistance syndrome; pseudohermaphroditism, incomplete male, type i; reifenstein syndrome; reifenstein syndrome, partial; type i familial incomplete male pseudohermaphroditism","Curated_Disease_Description_Source__c":"GARD:0005692","Curated_Disease_Description__c":"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development that affects the growing reproductive and genital organs of a fetus. Androgen insensitivity refers to the inability of the body of an individual with a 46, XY karyotype (usually leading to normal male development) to properly respond to male sex hormones (androgens). In PAIS, the body partially responds to these hormones. Signs and symptoms of PAIS can vary greatly, causing a range of differences in genital appearance. Males may have hypospadias, small penis, and bifid scrotum. Females may have large clitoris, partial fusion of the labia, and gynecomastia (excessive development of male breasts). In the milder cases, the only symptom may be infertility. PAIS It is inherited in an X-linked recessive manner and is caused by genetic changes in the AR gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:90797","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010720","ORPHANET_ID__c":"ORPHA:90797","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de insensibilidad parcial a los andrógenos","Spanish_Description_Source__c":"ORPHA:90797","Spanish_Description__c":"Es un desarrollo sexual diferente (DSD) poco frecuente distinto del síndrome de insensibilidad completa a los andrógenos (SIA completo), caracterizado por un desarrollo genital anómalo en un individuo 46,XY con un desarrollo normal de los testículos y sensibilidad parcial a los niveles de andrógenos apropiados para la edad.","Spanish_Disease_Name__c":"síndrome de insensibilidad parcial a los andrógenos","Spanish_GARD_Synonym__c":"pais; síndrome de resistencia parcial a los andrógenos; trastorno del desarrollo sexual 46,xy por insensibilidad parcial a andrógenos","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":"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development that affects the growing reproductive and genital organs of a fetus. Androgen insensitivity refers to the inability of the body of an individual with a 46, XY karyotype (usually leading to normal male development) to properly respond to male sex hormones (androgens). In PAIS, the body partially responds to these hormones. Signs and symptoms of PAIS can vary greatly, causing a range of differences in genital appearance. Males may have hypospadias, small penis, and bifid scrotum. Females may have large clitoris, partial fusion of the labia, and gynecomastia (excessive development of male breasts). In the milder cases, the only symptom may be infertility. PAIS It is inherited in an X-linked recessive manner and is caused by genetic changes in the AR gene.","Curated_Disease_Description_Source__c":"GARD:0005692","GARD_Synonym__c":"androgen insensitivity, partial; androgen insensitivity, partial, with or without breast cancer; androgen insensitivity, partial, with or without breast cancer, x-linked recessive; androgen resistance syndrome, partial; familial incomplete male pseudohermaphroditism type 1; familial incomplete male pseudohermaphroditism, type 1; gynecomastia, familial; pais; pais - partial androgen insensitivity syndrome; partial androgen resistance syndrome; pseudohermaphroditism, incomplete male, type i; reifenstein syndrome; reifenstein syndrome, partial; type i familial incomplete male pseudohermaphroditism","Name":"Partial androgen insensitivity syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"InterConnect","Website__c":"https://interconnect.support/"},{"Account_Name__c":"Accord Alliance","Website__c":"http://www.accordalliance.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":"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":"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":"All ages","Provided_By__c":"ORPHA:90797"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005692","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82785","Source__c":"C0268301","Xref__c":"MEDGEN:82785"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538435","Source__c":"MONDO:0010720","Xref__c":"C538435"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C120192","Source__c":"C0268301; MONDO:0010720","Xref__c":"C120192"},{"URL__c":"https://www.orpha.net/en/disease/detail/90797","Source__c":"C0268301; MONDO:0010720; ORPHA:90797","Xref__c":"ORPHA:90797"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080776","Source__c":"MONDO:0010720","Xref__c":"DOID:0080776"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=122811000119101","Source__c":"C0268301; MONDO:0010720","Xref__c":"122811000119101"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268301","Source__c":"C0268301","Xref__c":"C0268301"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E34.52","Source__c":"MONDO:0010720","Xref__c":"E34.52"},{"URL__c":"https://www.omim.org/entry/312300","Source__c":"C0268301; MONDO:0010720; ORPHA:90797","Xref__c":"OMIM:312300"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010720","Source__c":"GARD:0005692","Xref__c":"MONDO:0010720"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AR","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ar","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:90797","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000047","HPO_Synonym__c":"Hypospadia","HPO_Name__c":"Hypospadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90797","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypospadias with location of the urethral meatus in the perineal region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000051","HPO_Name__c":"Perineal hypospadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90797","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An elevation above normal limits of the concentration of estradiol in the circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025134","HPO_Synonym__c":"Increased estradiol level; Increased serum oestradiol","HPO_Name__c":"Increased serum estradiol","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90797","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009888","HPO_Synonym__c":"Abnormality of secondary sexual hair","HPO_Name__c":"Abnormality of secondary sexual hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90797","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008689","HPO_Synonym__c":"Cryptorchidism, bilateral","HPO_Name__c":"Bilateral cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90797","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A rare birth defect in women where the urethra and vagina both open into a common channel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100779","HPO_Name__c":"Urogenital sinus anomaly","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90797","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040314","HPO_Synonym__c":"Blind-ended vagina","HPO_Name__c":"Blind vagina","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90797","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:90797","HPO_Frequency__c":"Occasional (5-29%)","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:90797","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Midline indentation or cleft of the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000048","HPO_Synonym__c":"Cleft of scrotum; Scrotal cleft","HPO_Name__c":"Bifid scrotum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90797","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000054","HPO_Synonym__c":"Short penis; Small penis","HPO_Name__c":"Micropenis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90797","HPO_Frequency__c":"Very frequent (80-99%)","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:90797","HPO_Frequency__c":"Occasional (5-29%)","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:90797","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deviation from normal concentration of the hormone estrogen in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025132","HPO_Synonym__c":"Abnormal circulating estrogen level; Abnormal estrogen level","HPO_Name__c":"Abnormal circulating estrogen level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90797","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypertrophy of the clitoris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008665","HPO_Synonym__c":"Clitoral enlargement; Clitoromegaly; Enlarged clitoris; Hypertrophic clitoris; Prominent clitoris","HPO_Name__c":"Clitoral hypertrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90797","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevation above the normal range of the antimullerian hormone in the circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031102","HPO_Synonym__c":"Increased antimullerian hormone level; Increased plasma AMH","HPO_Name__c":"Increased circulating antimullerian hormone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90797","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevated concentration of luteinizing hormone in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011969","HPO_Synonym__c":"Elevated LH level; Elevated luteinizing hormone; Increased circulating luteinizing hormone level","HPO_Name__c":"Elevated circulating luteinizing hormone level","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90797","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000062","HPO_Synonym__c":"Ambiguous external genitalia; Ambiguous external genitalia at birth; Intersex genitalia","HPO_Name__c":"Ambiguous genitalia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90797","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The outer labia are sealed together.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025486","HPO_Name__c":"Fused labia majora","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90797","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A persistent (minutes to hours) abnormal increase in the pitch (frequency) of the voice for the context or social situation or significantly different from baseline of the individual.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001620","HPO_Synonym__c":"High pitched voice; High-pitched voice","HPO_Name__c":"Abnormally high-pitched voice","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90797","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:90797","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040307","HPO_Name__c":"Male sexual dysfunction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90797","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100728","HPO_Name__c":"Germ cell neoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90797","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal development of large mammary glands in males resulting in breast enlargement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000771","HPO_Synonym__c":"Enlarged male breast; Gynaecomastia","HPO_Name__c":"Gynecomastia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90797","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Decreased sensitivity toward insulin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008189","HPO_Name__c":"Insulin insensitivity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90797","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003251","HPO_Synonym__c":"Male infertility","HPO_Name__c":"Male infertility","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Obstetrics / Gynecology","Urologist","Pediatrics"],"Account":["Infertility"]},"synonyms":["androgen insensitivity, partial"," androgen insensitivity, partial, with or without breast cancer"," androgen insensitivity, partial, with or without breast cancer, x-linked recessive"," androgen resistance syndrome, partial"," familial incomplete male pseudohermaphroditism type 1"," familial incomplete male pseudohermaphroditism, type 1"," gynecomastia, familial"," pais"," pais - partial androgen insensitivity syndrome"," partial androgen resistance syndrome"," pseudohermaphroditism, incomplete male, type i"," reifenstein syndrome"," reifenstein syndrome, partial"," type i familial incomplete male pseudohermaphroditism"]}