EPHB4-related lymphatic-related hydrops fetalis
Synonyms: EPHB4-related LRHF/GLD · EPHB4-related generalized lymphatic dysplasia with atrial septal defect · EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal
- Status
- active
A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | EPHB4-related lymphatic-related hydrops fetalis | EPHB4-related LRHF/GLD · EPHB4-related generalized lymphatic dysplasia with atrial septal defect · EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis |
| fr | Dysplasie lymphatique généralisée avec anasarque foetoplacentaire non immunologique associée à EPHB4 | Dysplasie lymphatique généralisée avec communication interauriculaire associée à EPHB4 |
| de | EPHB4-assoziierter lymphatisch bedingter Hydrops fetalis | EPHB4-assoziierte LRHF/GLD · EPHB4-assoziierte generalisierte lymphatische Dysplasie mit Vorhofseptumdefekt · EPHB4-assoziierte generalisierte lymphatische Dysplasie mit nicht-immunologischen Hydrops fetalis |
| es | Hidropesía fetal linfática asociada al gen EPHB4 | Displasia linfática generalizada asociada al gen EPHB4 con comunicación interauricular · Displasia linfática generalizada asociada al gen EPHB4 con hidropesía fetal no inmunológica |
| it | Idrope fetale linfatica correlata a EPHB4 | Displasia linfatica generalizzata correlata a EPHB4 con idrope fetale non immune · LRHF/GLD correlata a EPHB4 · Displasia linfatica generalizzata correlata a EPHB4 con difetto del setto interatriale |
| nl | EPHB4-gerelateerde lymfe-gerelateerde hydrops foetalis | EPHB4-gerelateerde LRHF/GLD · EPHB4-gerelateerde gegeneraliseerde lymfatische dysplasie met atriumseptumdefect · EPHB4-gerelateerde gegeneraliseerde lymfatische dysplasie met niet-immune hydrops foetalis |
| pt | Hidropsia fetal linfático-relacionada EPHB4-relacionada | |
| pl | Obrzęk płodu mający związek z układem limfatycznym związany z EPHB4 | Uogólniona dysplazja limfatyczna z ubytkiem w przegrodzie międzyprzedsionkowej związana z EPHB4 · Uogólniona dysplazja limfatyczna z nie-immunologicznym obrzękiem płodu związana z EPHB4 |
| cs | EPHB4-vázaný lymfatický hydrops plodu | = en |
| uk | EPHB4-повязані лімфатична водянка плоду | EPHB4-залежна генералізована лімфатична дисплазія з дефектом міжпередсердної перегородки · EPHB4-асоційована генералізована лімфатична дисплазія з неімунним ембріональним гідропсом · LRHF/GLD, повязані з EPHB4 |
| zh | EPHB4基因相关的淋巴性胎儿水肿 | EPHB4基因相关全身性淋巴发育不良伴非免疫性胎儿水肿 |
| tr | EPHB4-ilişkili lenfatik -ilişkili hidrops fetalis | EPHB4-ilişkili LRHF/GLD · Atriyal septal defekt ile seyreden EPHB4-ilişkili jeneralize lenfatik displazi · İmmün olmayan hidrops fetalis ile seyreden EPHB4-ilişkili jeneralize lenfatik displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617300 | NTBT | validated | |
| ICD-10 | P83.2 | NTBT | attributed | validated |
| MONDO | 0035475 | E | validated | |
| UMLS | C5680140 | 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 (2):
- ORPHA:568044Primary lymphedema with systemic or visceral involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare circulatory system diseases - ORPHA:98727Rare atrial defect and interatrial communication
rare developmental anomalies during embryogenesis; rare cardiac malformations
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EPHB4 | Disease-causing germline mutation(s) in | Assessed | HGNC:3395 | ENSG00000196411 | 600011 | 7q22.1 | EPH receptor B4 | 27400125[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 27400125[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27400125[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/568065
- This record as JSON: /data/d/568065.json