CELSR1-related late-onset primary lymphedema
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood, Infancy, Neonatal
- Status
- active
A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CELSR1-related late-onset primary lymphedema | |
| fr | Lymphoedème primaire tardif associé à CELSR1 | |
| de | CELSR1-assoziiertes spät-einsetzendes primäres Lymphödem | |
| es | Linfedema primario de inicio tardío asociado al gen CELSR1 | |
| it | Linfedema primitivo ad esordio tardivo correlato a CELSR1 | |
| nl | CELSR1-gerelateerd primair lymfoedeem met late aanvang | |
| pt | Linfedema primário de início tradio CELSR1-relacionado | |
| pl | Pierwotny obrzęk limfatyczny o późnym początku związany z CELSR1 | |
| cs | CELSR1-vázaný primární lymfedém s pozdním nástupem | |
| uk | Пізня первинна лімфедема, повязана з CELSR1 | |
| zh | CELSR1基因相关的晚发型原发性淋巴水肿 | |
| tr | CELSR1-ilişkili geç başlangıçlı primer lenfödem |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619319 | E | validated | |
| ICD-10 | Q82.0 | NTBT | attributed | validated |
| MONDO | 0035499 | E | validated | |
| UMLS | C5681848 | 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:289825Late-onset primary lymphedema without 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 |
|---|---|---|---|---|---|---|---|---|
| CELSR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:1850 | ENSG00000075275 | 604523 | 22q13.31 | cadherin EGF LAG seven-pass G-type receptor 1 | 26855770[PMID]_31215153[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_31215153[PMID]_31403174[PMID] |
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 31215153[PMID]_31403174[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/569816
- This record as JSON: /data/d/569816.json