{"Name":"Complete androgen insensitivity syndrome","DiseaseID__c":"GARD:0010597","id":10597,"encodedName":"complete-androgen-insensitivity-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Complete androgen insensitivity syndrome","Xref_IDs__c":"368851000119102; C0936016; C120191; DOID:0080775; E34.51; MEDGEN:183188; MONDO:0021023; ORPHA:99429","USA_Estimate__c":"5,000","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":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0021023","Disease_Description__c":"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens.","GARD_Name__c":"Complete androgen insensitivity syndrome","GARD_Synonym__c":"cais; cais - complete androgen insensitivity syndrome; complete androgen resistance syndrome","Curated_Disease_Description_Source__c":"GARD:0010597","Curated_Disease_Description__c":"Complete androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male (one X and one Y chromosome) but do not respond to male hormones at all. As a result, they generally have normal female external genitalia and female breasts. However, they do not have a uterus or cervix so are unable to menstruate or conceive children. Other signs and symptoms may include undescended testes and sparse to absent pubic hair. Complete androgen insensitivity syndrome is caused by changes in the AR gene and is inherited in an X-linked manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:99429","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0021023","ORPHANET_ID__c":"ORPHA:99429","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de insensibilidad completa a los andrógenos","Spanish_Description_Source__c":"ORPHA:99429","Spanish_Description__c":"El síndrome de insensibilidad completa a los andrógenos (SICA) es una forma de síndrome de insensibilidad a los andrógenos (SIA; ver término), un trastorno del desarrollo sexual (DSD), caracterizado por la presencia de genitales externos femeninos en un individuo 46,XY con desarrollo testicular normal pero con testículos no descendidos y falta de respuesta a los niveles de andrógenos apropiados para la edad.","Spanish_Disease_Name__c":"síndrome de insensibilidad completa a los andrógenos","Spanish_GARD_Synonym__c":"casi; sica; síndrome de resistencia completa a los 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":"Complete androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male (one X and one Y chromosome) but do not respond to male hormones at all. As a result, they generally have normal female external genitalia and female breasts. However, they do not have a uterus or cervix so are unable to menstruate or conceive children. Other signs and symptoms may include undescended testes and sparse to absent pubic hair. Complete androgen insensitivity syndrome is caused by changes in the AR gene and is inherited in an X-linked manner.","Curated_Disease_Description_Source__c":"GARD:0010597","GARD_Synonym__c":"cais; cais - complete androgen insensitivity syndrome; complete androgen resistance syndrome","Name":"Complete androgen insensitivity syndrome","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"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:99429"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010597","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1429","Source__c":"Gene Review","Xref__c":"NBK1429"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080775","Source__c":"MONDO:0021023","Xref__c":"DOID:0080775"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=368851000119102","Source__c":"C0936016; MONDO:0021023","Xref__c":"368851000119102"},{"URL__c":"https://www.orpha.net/en/disease/detail/99429","Source__c":"C0936016; MONDO:0021023; ORPHA:99429","Xref__c":"ORPHA:99429"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0936016","Source__c":"C0936016","Xref__c":"C0936016"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C120191","Source__c":"C0936016; MONDO:0021023","Xref__c":"C120191"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E34.51","Source__c":"MONDO:0021023","Xref__c":"E34.51"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=183188","Source__c":"C0936016","Xref__c":"MEDGEN:183188"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0021023","Source__c":"GARD:0010597","Xref__c":"MONDO:0021023"}],"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:99429","HPO_Frequency__c":"Frequent (30-79%)","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:99429","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012888","HPO_Synonym__c":"Abnormality of the uterine cervix","HPO_Name__c":"Abnormal uterine cervix morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99429","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced number or density of axillary hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002215","HPO_Synonym__c":"Limited armpit hair; Little underarm hair; sparse to absent axillary hair","HPO_Name__c":"Sparse axillary hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99429","HPO_Frequency__c":"Uncommon (<1-4%)","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:99429","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a neoplasm of the testis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010788","HPO_Synonym__c":"Testicular tumor","HPO_Name__c":"Testicular neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99429","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:99429","HPO_Frequency__c":"Very frequent (80-99%)","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:99429","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An anomaly of the circulating level of follicle-stimulating hormone (FSH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030346","HPO_Synonym__c":"Abnormal circulating follicle-stimulating hormone level","HPO_Name__c":"Abnormal circulating follicle-stimulating hormone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99429","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height above that which is expected according to age and sex norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000098","HPO_Synonym__c":"Accelerated linear growth; Increased body height; Increased linear growth; Tall stature","HPO_Name__c":"Tall stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99429","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000823","HPO_Synonym__c":"Delayed pubertal development; Delayed pubertal growth; Delayed puberty; Pubertal delay","HPO_Name__c":"Delayed puberty","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99429","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the female internal genitalia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000008","HPO_Synonym__c":"Abnormality of female internal genitalia","HPO_Name__c":"Abnormal morphology of female internal genitalia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99429","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of female external genitalia in a person with a male karyotype.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008730","HPO_Synonym__c":"Males with female external genitalia","HPO_Name__c":"Female external genitalia in individual with 46,XY karyotype","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99429","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced number or density of pubic hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002225","HPO_Synonym__c":"Decreased sexual hair; Sparse pubic hair; sparse to absent pubic hair","HPO_Name__c":"Sparse pubic hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99429","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Aplasia or developmental hypoplasia of the fallopian tube.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008655","HPO_Synonym__c":"Absent/small fallopian tube; Absent/underdeveloped fallopian tube","HPO_Name__c":"Aplasia/Hypoplasia of the fallopian tube","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99429","HPO_Frequency__c":"Very frequent (80-99%)","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:99429","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:99429","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of pubic hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002555","HPO_Synonym__c":"Absent pubic hair","HPO_Name__c":"Absent pubic hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99429","HPO_Frequency__c":"Uncommon (<1-4%)","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:99429","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:99429","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of axillary hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002221","HPO_Name__c":"Absent axillary hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99429","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:99429","HPO_Frequency__c":"Very frequent (80-99%)","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:99429","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"}},{"Provided_By__c":"ORPHA:99429","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:99429","HPO_Frequency__c":"Occasional (5-29%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Obstetrics / Gynecology","Urologist","Pediatrics"],"Account":["Infertility"]},"synonyms":["cais"," cais - complete androgen insensitivity syndrome"," complete androgen resistance syndrome"]}