Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
Synonyms: GLOW syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy
- Status
- active
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome is a rare, genetic, overgrowth syndrome characterized by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumor. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behavior.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome | GLOW syndrome |
| fr | Syndrome de retard de développement-kystes pulmonaires-croissance excessive-tumeur de Wilms | Syndrome GLOW |
| de | Allgemeine Entwicklungsverzögerung-Lungenzysten-Großwuchs-Wilms-Tumor-Syndrom | GLOW-Syndrom |
| es | Síndrome de retraso global del desarrollo-quistes pulmonares-sobrecrecimiento-tumor de Wilms | Síndrome GLOW |
| it | Sindrome da ritardo dello sviluppo globale, cisti polmonari, iperaccrescimento e tumore di Wilms | Sindrome GLOW |
| nl | Algehele ontwikkelingsachterstand - longcysten - overgroei - Wilmstumor-syndroom | GLOW-syndroom |
| pt | Síndrome de perturbação do desenvolvimento global-quistos pulmonares-sobrecrescimento-tumor de Wilms | |
| pl | Zespół całościowego opóźnienia w rozwoju, torbieli płucnych, przerostu ciała i guza Wilmsa | Zespół GLOW |
| cs | Syndrom zahrnující globální opoždění vývoje, cysty plic, nadměrný vzrůst a Wilmsův tumor | GLOW syndrom |
| uk | Синдром глобальної затримки розвитку-кісти легень-надмірного росту-пухлини Вільмса | Синдром GLOW |
| zh | 全面性发育迟缓-肺囊肿-过度生长-Wilms瘤综合征 | GLOW综合征 |
| tr | Yaygın gelişme geriliği-akciğer kistleri-aşırı büyüme-Wilms tümör sendromu | GLOW sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618272 | E | validated | |
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| ICD-11 | LD2C | NTBT | attributed | validated |
| MONDO | 0018445 | E | validated | |
| UMLS | C4748924 | 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 (3):
- ORPHA:319328Inherited renal cancer-predisposing syndrome
rare genetic diseases; rare renal diseases; rare neoplastic diseases - ORPHA:93460Overgrowth syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DICER1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:17098 | ENSG00000100697 | 606241 | 14q32.13 | dicer 1, ribonuclease III | 24676357[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 24676357[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24676357[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/404476
- This record as JSON: /data/d/404476.json