PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis
Synonyms: Generalized lymphatic dysplasia of Fotiou · PIEZO1-related LRHF/GLD · PIEZO1-related generalized lymphatic dysplasia with systemic involvement · PIEZO1-related lymphatic-related hydrops fetalis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Status
- active
A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis | Generalized lymphatic dysplasia of Fotiou · PIEZO1-related LRHF/GLD · PIEZO1-related generalized lymphatic dysplasia with systemic involvement · PIEZO1-related lymphatic-related hydrops fetalis |
| fr | Dysplasie lymphatique généralisée avec anasarque foetoplacentaire non immunologique associée à PIEZO1 | Dysplasie lymphatique généralisée avec manifestations systémiques associée à PIEZO1 · Dysplasie lymphatique généralisée de Fotiou |
| de | PIEZO1-assoziierte generalisierte lymphatische Dysplasie mit nicht-immunem Hydrops fetalis | PIEZO1-assoziierte generalisierte lymphatische Dysplasie mit systemischer Beteiligung · Generalisierte lymphatische Dysplasie Fotiou · PIEZO1-assoziierte LRHF/GLD |
| es | Displasia linfática generalizada asociada al gen PIEZO1 con hidropesía fetal no inmunológico | Displasia linfática generalizada asociada al gen PIEZO1 con afectación sistémica · Displasia linfática generalizada asociada al gen PIEZO1 con hidropesía fetal no inmunológica · Displasia linfática generalizada de Fotiou · Hidrops fetal linfático asociado al gen PIEZO1 |
| it | Displasia linfatica generalizzata correlata a PIEZO1 con idrope fetale non immune | Displasia linfatica generalizzata correlata a PIEZO1 con coinvolgimento sistemico · Displasia linfatica generalizzata di Fotiou · Idrope fetale linfatica correlata a PIEZO1 · LRHF/GLD correlata a PIEZO1 |
| nl | PIEZO1-gerelateerde gegeneraliseerde lymfatische dysplasie met niet-immune hydrops foetalis | Gegeneraliseerde lymfatische dysplasie van Fotiou · PIEZO1-gerelateerde LRHF/GLD · PIEZO1-gerelateerde gegeneraliseerde lymfatische dysplasie met systemische betrokkenheid · PIEZO1-gerelateerde lymfe-gerelateerde hydrops foetalis |
| pt | Hidropsia fetal não-imune com displasia linfática generalizada PIEZO1-relacionada | |
| pl | Uogólniona dysplazja limfatyczna z nieimmunologicznym obrzękiem płodu związana z PIEZO1 | Uogólniona dysplazja limfatyczna z zajęciem wielu układów związana z PIEZO1 |
| cs | PIEZO1-vázaná generalizovaná lymfatická dysplázie s neimunitním hydropsem plodu | = en |
| uk | PIEZO1-залежна генералізована лімфатична дисплазія з неімунною водянкою плода | Генералізована лімфатична дисплазія Фотиу · PIEZO1-залежна генералізована лімфатична дисплазія із системним ураженням · LRHF/GLD, повязані з PIEZO1 · PIEZO1-повязаний лімфатичний гідропс плода |
| zh | PIEZO1基因相关的全身淋巴发育不良伴非免疫性胎儿水肿 | PIEZO1基因相关全身性淋巴发育不良伴全身受累 |
| tr | Bağışık olmayan hidrops fetalis ile seyreden PIEZO1-ilişkili jeneralize lenfatik displazi | PIEZO1-ilişkili LRHF/GLD · Fotiou'nun jeneralize lenfatik displazisi · PIEZO1-ilişkili lenfatik-ilişkili hidrops fetalis · Sistemik tutulum ile seyreden PIEZO1 -lişkili jeneralize lenfatik displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616843 | E | validated | |
| ICD-10 | Q82.0 | NTBT | attributed | validated |
| MONDO | 0035474 | E | validated | |
| MONDO | 14797 | E | validated | |
| MONDO | 35474 | E | validated | |
| UMLS | C4225184 | 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 (1):
- ORPHA:568044Primary lymphedema with systemic or visceral involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare circulatory system diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PIEZO1 | Disease-causing germline mutation(s) in | Assessed | HGNC:28993 | ENSG00000103335 | 611184 | 16q24.3 | piezo type mechanosensitive ion channel component 1 (Er blood group) | 26333996[PMID]_33227434[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26333996[PMID] |
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 26333996[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/568062
- This record as JSON: /data/d/568062.json