Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Infancy
- Status
- active
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome | |
| fr | Syndrome de fibrose pulmonaire-déficit immunitaire-dysgénésie gonadique 46,XX | |
| de | Lungenfibrose-Immundefekt-46,XX-Gonadendysgenesie-Syndrom | |
| es | Síndrome de fibrosis pulmonar-inmunodeficiencia-disgenesia gonadal 46,XX | |
| it | Fibrosi polmonare - immunodeficienza - disgenesia gonadica | |
| nl | Longfibrose - immuundeficiëntie - 46,XX gonadale dysgenesie-syndroom | |
| pt | Síndrome de fibrose pulmonar-imunodeficiência-disgenesia gonadal 46,XX | |
| pl | Włóknienie płuc - Niedobór odporności - dysgenezja gonad z kariotypem 46,XX | |
| cs | Syndrom zahrnující plicní fibrózu, imunodeficienci a 46,XX gonadální dysgenezi | |
| uk | Синдром фіброзу легень-імунодефіциту-46,XX дисгенезії гонад | |
| zh | 肺纤维化-免疫缺陷-46，XX性腺发育不全综合征 | |
| tr | Akciğer fibrozu-immün yetmezlik-46, XX gonadal disgenezi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611926 | E | validated | |
| ICD-10 | D82.8 | NTBT | attributed | validated |
| ICD-11 | 4A00.2 | NTBT | index | validated |
| MONDO | 0012757 | E | validated | |
| UMLS | C4302919 | 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:264992Genetic interstitial lung disease
rare genetic diseases - ORPHA:264665Primary interstitial lung disease specific to childhood
rare respiratory diseases; rare transplant-related disorders - ORPHA:325109Syndrome with 46,XX difference of sex development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases - ORPHA:325638Syndrome with difference of sex development of gynecological interest
rare genetic diseases; rare gynecological and obstetric diseases - ORPHA:317416T-B+ severe combined immunodeficiency
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 17937424[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17937424[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/137631
- This record as JSON: /data/d/137631.json