ORPHA:33001
Lymphedema-distichiasis syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare autosomal dominant syndromic lymphedema characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lymphedema-distichiasis syndrome | |
| fr | Syndrome de lymphoedème-distichiasis | |
| de | Lymphödem-Distichiasis-Syndrom | |
| es | Síndrome de linfedema-distiquiasis | |
| it | Linfedema - distichiasi | |
| nl | Lymfoedeem - distichiasis-syndroom | |
| pt | Síndrome de linfedema-distiquíase | |
| pl | Obrzęk limfatyczny - dwurzędowość rzęs | |
| cs | Lymfedéma-distichiasis syndrom | |
| uk | Лімфедематозно-дистихіальний синдром | |
| zh | 淋巴水肿-双睫毛综合征 | |
| tr | Lenfödem distikiyaz sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 153400 | E | validated | |
| ICD-10 | Q82.0 | NTBT | attributed | validated |
| ICD-11 | BD93.0 | NTBT | index | validated |
| MONDO | 0007922 | E | validated | |
| MeSH | C537710 | E | validated | |
| UMLS | C0265345 | E | validated | |
| GARD | 333 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- 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 - ORPHA:98594Rare eyebrow/eyelash disorder
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1683Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome moved to · inactive
- ORPHA:2419Lymphedema-ptosis syndrome moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FOXC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3801 | ENSG00000176692 | 602402 | 16q24.1 | forkhead box C2 | 12383817[PMID]_20301630[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET_24215208[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.
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HPO phenotypes
26 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000509 | Conjunctivitis | |
| HP:0200020 | Corneal erosion | |
| HP:0009743 | Distichiasis | |
| HP:0000613 | Photophobia | |
| HP:0003550 | Predominantly lower limb lymphedema | |
| Frequent (79-30%) | ||
| HP:0000518 | Cataract | |
| HP:0000656 | Ectropion | |
| HP:0001324 | Muscle weakness | |
| HP:0000508 | Ptosis | |
| HP:0002619 | Varicose veins | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0004930 | Abnormality of the pulmonary vasculature | |
| HP:0011675 | Arrhythmia | |
| HP:0000175 | Cleft palate | |
| HP:0000204 | Cleft upper lip | |
| HP:0000819 | Diabetes mellitus | |
| HP:0100244 | Fibrosarcoma | |
| HP:0100820 | Glomerulopathy | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000093 | Proteinuria | |
| HP:0001581 | Recurrent skin infections | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0000075 | Renal duplication | |
| HP:0009745 | Spinalarachnoid cyst | |
| HP:0001970 | Tubulointerstitial nephritis | |
| HP:0000465 | Webbed neck | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/33001
- This record as JSON: /data/d/33001.json