Androgen insensitivity syndrome

Preferred Label : Androgen insensitivity syndrome;

Symbol : AIS;

CISMeF acronym : AIS; TFM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Androgen receptor deficiency; Dihydrotestosterone receptor deficiency; Testicular feminization syndrome; Dhtr deficiency; Ar deficiency; TFM;

Description : The androgen insensitivity syndrome is an X-linked recessive disorder in which affected males have female external genitalia, female breast development, blind vagina, absent uterus and female adnexa, and abdominal or inguinal testes, despite a normal male 46,XY karyotype. Partial androgen insensitivity results in hypospadias and micropenis with gynecomastia (Reifenstein syndrome; 312300).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the androgen receptor gene (AR, 313700.0001);

Neoplasia : Sertoli cell adenomas; Seminomas; Malignant sex-cord stromal tumor;

Laboratory abnormalities : Elevated plasma follicle stimulating hormone (FSH); Normal-elevated plasma testosterone (male range); Elevated plasma estrogen; Elevated plasma luteinizing hormone (LH); Normal male karyotype (46,XY);

Prefixed ID : #300068;

Details

Origin ID

300068;

UMLS CUI

C0039585;

Automatic exact mappings (from CISMeF team)
- AR wt Allele [NCIt concept]
- Adenocarcinoma In Situ [NCIt concept]
- TP63 wt Allele [NCIt concept]
- Testicular feminization (disorder) [SNOMED CT concept]
- androgen receptor [ORDO Gene]
- androgen receptor [HGNC gene]
- androgen receptor deficiency [MeSH concept]
- testicular feminization [MeSH concept]
Currated CISMeF NLP mapping
- 46,XY disorder of sex development due to androgen resistance [ICD-11 Subcategory]
- Androgen Insensitivity Syndrome [NCIt concept]
- Androgen insensitivity syndrome [ICD-10 Sub-category]
- Androgen insensitivity syndrome [ICD-9 code]
- Androgen insensitivity syndrome [ICD-9 code]
- Androgen insensitivity syndrome [MedDRA Preferred Term]
- Androgen insensitivity syndrome [ORDO Disease]
- Androgen resistance syndrome (disorder) [SNOMED CT concept]
- Androgen-Insensitivity syndrome [MeSH concept]
- Testicular feminisation syndrome [MedDRA LLT]
- Testicular feminization syndrome [MedDRA LLT]
- androgen insensitivity syndrome [DO Concept]
- androgen insensitivity syndrome [Disease (Nov.)]
- androgen resistance syndrome, nos [SNOMED Notion]
- androgen-insensitivity syndrome [MeSH Descriptor]
DO Cross reference
- androgen insensitivity syndrome [DO Concept]
False automatic mappings
- Anguilla [NCIt concept]
Genes related to phenotype
- Androgen receptor [OMIM gene]
HPO term(s)
- Absent facial hair [HPO term]
- Blind vagina [HPO term]
- Elevated circulating follicle stimulating hormone level [HPO term]
- Elevated circulating luteinizing hormone level [HPO term]
- Female external genitalia in individual with 46,XY karyotype [HPO term]
- Growth abnormality [HPO term]
- Gynecomastia [HPO term]
- Inguinal hernia [HPO term]
- Labial hypoplasia [HPO term]
- Neoplasm [HPO term]
- Primary amenorrhea [HPO term]
- Sparse axillary hair [HPO term]
- Sparse pubic hair [HPO term]
- X-linked recessive inheritance [HPO term]
- sparse to absent axillary hair [HPO term]
- sparse to absent pubic hair [HPO term]
Matching ORDO disease(s)
- Androgen insensitivity syndrome [ORDO Disease]
ORDO concept(s)
- Complete androgen insensitivity syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Androgen Insensitivity Syndrome [NCIt concept]
- Androgen insensitivity syndrome [MedDRA Preferred Term]
- Androgen insensitivity syndrome [ICD-10 Sub-category]
- Androgen insensitivity syndrome [ICD-9 code]
- Androgen insensitivity syndrome [ICD-9 code]
- Androgen resistance syndrome (disorder) [SNOMED CT concept]
- Androgen-Insensitivity syndrome [MeSH concept]
- Complete androgen insensitivity syndrome [ORDO Disease]
- androgen insensitivity syndrome [DO Concept]
- androgen insensitivity syndrome [Disease (Nov.)]
- androgen resistance syndrome, nos [SNOMED Notion]
- androgen-insensitivity syndrome [MeSH Descriptor]
Validated automatic mappings to BTNT
- Complete androgen insensitivity syndrome [ORDO Disease]
- testicular feminization [Disease (Nov.)]

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