Congenital primary lymphedema of Gordon
Synonyms: VEGFC-related congenital primary lymphedema
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Status
- active
A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital primary lymphedema of Gordon | VEGFC-related congenital primary lymphedema |
| fr | Lymphoedème primaire congénital de Gordon | Lymphoedème primaire congénital associé à VEGFC |
| de | Kongenitales primäres Lymphödem vom Typ Gordon | VEGFC-assoziiertes kongenitales primäres Lymphödem |
| es | Linfedema primario congénito de Gordon | Linfedema primario congénito asociado a VEGFC · Linfedema primario congénito asociado al gen VEGFC |
| it | Linfedema primitivo congenito di Gordon | Linfedema primitivo congenito correlato a VEGFC |
| nl | Congenitaal primair lymfoedeem van Gordon | VEGFC-gerelateerd congenitaal primair lymfoedeem |
| pt | Linfedema de Gordon primário congénito | |
| pl | Wrodzony pierwotny obrzęk limfatyczny Gordona | = en |
| cs | Vrozený primární lymfedém Gordonové | = en |
| uk | Вроджена первинна лімфедема Гордона | Вроджена первинна лімфедема, повязана з VEGFC |
| zh | 戈登型先天性原发性淋巴水肿 | VEGFC基因相关先天性原发性淋巴水肿 |
| tr | Gordon'un Doğumsal primer lenfödemi | VEGFC-ilişkili doğumsal primer lenfödem |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615907 | E | validated | |
| ICD-10 | Q82.0 | NTBT | attributed | validated |
| ICD-11 | BD93.0 | NTBT | attributed | validated |
| MONDO | 0035500 | E | validated | |
| UMLS | C5680138 | 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:2416Congenital 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 |
|---|---|---|---|---|---|---|---|---|
| VEGFC | Disease-causing germline mutation(s) in | Assessed | HGNC:12682 | ENSG00000150630 | 601528 | 4q34.3 | vascular endothelial growth factor C | 30071673[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 23 cases | Worldwide | Case(s) | Validated | 30071673[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_30071673[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/569821
- This record as JSON: /data/d/569821.json