GJC2-related late-onset primary lymphedema
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | GJC2-related late-onset primary lymphedema | |
| fr | Lymphoedème primaire tardif associé à GJC2 | |
| de | GJC2-assoziiertes spät-beginnendes primäres Lymphödem | |
| es | Linfedema primario de inicio tardío asociado al gen GJC2 | |
| it | Linfedema primitivo ad esordio tardivo correlato a GJC2 | |
| nl | GJC2-gerelateerd primair lymfoedeem met late aanvang | |
| pt | Linfedema primário de início tradio GJC2-relacionado | |
| pl | Obrzęk limfatyczny o późnym początku związany z GJC2 | |
| cs | GJC2-vázaný primární lymfedém s pozdním nástupem | |
| uk | Пізня первинна лімфедема, повязана з GJC2, з пізнім початком | |
| zh | GJC2基因相关的晚发型原发性淋巴水肿 | |
| tr | GJC2-ilişkili geç başlangıçlı primer lenfödem |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613480 | E | validated | |
| ICD-10 | Q82.0 | NTBT | attributed | validated |
| MONDO | 0035472 | E | validated | |
| UMLS | C5681305 | 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 |
|---|---|---|---|---|---|---|---|---|
| GJC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:17494 | ENSG00000198835 | 608803 | 1q42.13 | gap junction protein gamma 2 | 29906362[PMID]_20537300[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_29906362[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
13 annotations · validated 2021-06-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0100766 | Abnormal lymphatic vessel morphology | |
| HP:0001785 | Ankle swelling | |
| HP:0003759 | Hypoplasia of lymphatic vessels | |
| HP:0010741 | Pedal edema | |
| HP:0003550 | Predominantly lower limb lymphedema | |
| Occasional (29-5%) | ||
| HP:0100658 | Cellulitis | |
| HP:0007514 | Edema of the dorsum of hands | |
| HP:0000282 | Facial edema | |
| HP:0001581 | Recurrent skin infections | |
| HP:0002619 | Varicose veins | |
| HP:0005293 | Venous insufficiency | |
| Very rare (<4-1%) | ||
| HP:0031188 | Genital edema | |
| HP:0000508 | Ptosis | |
Annotation source: 21266381[PMID]_20537300[PMID]_30061138[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/568051
- This record as JSON: /data/d/568051.json