ORPHA:90797
Partial androgen insensitivity syndrome
Synonyms: PAIS · Partial androgen resistance syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- All ages
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Partial androgen insensitivity syndrome | PAIS · Partial androgen resistance syndrome |
| fr | Syndrome d'insensibilité partielle aux androgènes | PAIS · SIPA |
| de | Androgen-Insensivitäts-Syndrom, partielles | Androgen-Resistenz-Syndrom, partielles · PAIS · Reifenstein-Syndrom · Störung der Geschlechtsentwicklung 46,XY bei partieller Androgen-Insensivität |
| es | Síndrome de insensibilidad parcial a los andrógenos | PAIS · Síndrome de resistencia parcial a los andrógenos · Trastorno del desarrollo sexual 46,XY por insensibilidad parcial a andrógenos |
| it | Sindrome da insensibilità parziale agli androgeni | PAIS · Sindrome da resistenza parziale agli androgeni |
| nl | Partiële androgeeninsensitiviteitssyndroom | PAIS · PAOS · Partiële androgeenongevoeligheidssyndroom · Partiële androgeenresistentiesyndroom |
| pt | Insensibilidade parcial aos androgénios | |
| pl | Zespół częściowej niewrażliwości na androgeny | PAIS · Zespół częściowej oporności na androgeny |
| cs | Parciální necitlivost k androgenům | PAIS · Parciální androgenní rezistence |
| uk | Синдром часткової нечутливості до андрогенів | PAIS · Синдром часткової андрогенної резистентності |
| zh | 部分性雄激素不敏感综合征 | 部分雄激素抵抗综合征 |
| tr | Kısmi androjen duyarsızlığı sendromu | PAIS · Kısmi androjen direnci sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 312300 | E | validated | |
| ICD-10 | E34.5 | NTBT | attributed | validated |
| ICD-11 | LD2A.4 | NTBT | index | validated |
| MONDO | 0010720 | E | validated | |
| UMLS | C0268301 | E | validated | |
| GARD | 5692 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:754Androgen insensitivity syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AR | Disease-causing germline mutation(s) in | Assessed | HGNC:644 | ENSG00000169083 | 313700 | Xq12 | androgen receptor | 20301602[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
26 annotations · validated 2021-06-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010463 | Aplasia of the ovary | |
| HP:0000151 | Aplasia of the uterus | |
| HP:0011969 | Elevated circulating luteinizing hormone level | |
| HP:0031102 | Increased antimullerian hormone level | |
| HP:0030088 | Increased serum testosterone level | |
| HP:0003251 | Male infertility | |
| HP:0040307 | Male sexual dysfunction | |
| Frequent (79-30%) | ||
| HP:0025132 | Abnormal circulating estrogen level | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0008689 | Bilateral cryptorchidism | |
| HP:0000771 | Gynecomastia | |
| HP:0000047 | Hypospadias | |
| Occasional (29-5%) | ||
| HP:0009888 | Abnormality of secondary sexual hair | |
| HP:0001620 | Abnormally high-pitched voice | |
| HP:0000027 | Azoospermia | |
| HP:0000048 | Bifid scrotum | |
| HP:0040314 | Blind vagina | |
| HP:0008665 | Clitoral hypertrophy | |
| HP:0025486 | Fused labia majora | |
| HP:0100728 | Germ cell neoplasia | |
| HP:0025134 | Increased serum estradiol | |
| HP:0008189 | Insulin insensitivity | |
| HP:0000054 | Micropenis | |
| HP:0000051 | Perineal hypospadias | |
| HP:0000786 | Primary amenorrhea | |
| HP:0100779 | Urogenital sinus anomaly | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 29949163[PMID]_31351520[PMID]_29768628[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90797
- This record as JSON: /data/d/90797.json