46,XX ovarian dysgenesis-short stature syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent
- Status
- active
A rare genetic disorder with difference of sex development characterized by primary amenorrhea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinizing hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair, and normal 46,XX karyotype.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 46,XX ovarian dysgenesis-short stature syndrome | |
| fr | Syndrome de dysgénésie ovarienne 46,XX-petite taille | |
| de | Ovardysgenesie-Kleinwuchs-Syndrom | |
| es | Síndrome de disgenesia ovárica 46,XX-talla baja | |
| it | Disgenesia ovarica 46,XX con bassa statura | |
| nl | 46,XX ovariële dysgenesie - kleine gestalte-syndroom | |
| pt | Síndrome de disgenésia ovárica 46,XX-baixa estatura | |
| pl | Zespół dysgenezji jajników i niskiego wzrostu | |
| cs | Syndrom zahrnující ovariální dysgenezi a malý vzrůst při karyotypu 46,XX | |
| uk | Синдром 46,XX дисгенезії яєчників-низькорослості | |
| zh | 46，XX，卵巢发育不良-矮小综合征/卵巢发育不全4型 | |
| tr | 46,XX over disgenezi-kısa boy sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616185 | BTNT | validated | |
| OMIM | 617690 | BTNT | validated | |
| ICD-10 | Q96.8 | NTBT | attributed | validated |
| MONDO | 0014520 | E | validated | |
| UMLS | C4015409 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:32505546,XX disorder of gonadal development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases - ORPHA:98074Gonadal dysgenesis of gynecological interest
rare genetic diseases; rare gynecological and obstetric diseases - ORPHA:399877Rare female infertility due to gonadal dysgenesis
rare genetic diseases; rare infertility disorders - ORPHA:485382Rare genetic premature ovarian failure
rare genetic diseases - ORPHA:95710Rare non-acquired premature ovarian failure
rare endocrine diseases; rare gynecological and obstetric diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MCM9 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:21484 | ENSG00000111877 | 610098 | 6q22.31 | minichromosome maintenance 9 homologous recombination repair factor | 25480036[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 25480036[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25480036[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/444048
- This record as JSON: /data/d/444048.json