Lymphedema-distichiasis syndrome

Preferred Label : Lymphedema-distichiasis syndrome;

Symbol : LPHDST;

CISMeF acronym : LPHDST;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lymphedema with distichiasis;

Included titles and symbols : Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus;

Description : Lymphedema-distichiasis is an autosomal dominant disorder that classically presents as lymphedema of the limbs and double rows of eyelashes (distichiasis). Irritation of the cornea, with corneal ulceration in some cases, brings the patients to the attention of ophthalmologists. Other complications may include cardiac defects, varicose veins, ptosis, cleft palate, spinal extradural cysts, and photophobia (Fang et al., 2000; Brice et al., 2002).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the forkhead box C2 gene (FOXC2, 602402.0001);

Prefixed ID : #153400;

Details

Origin ID

153400;

UMLS CUI

C0265345;

Automatic exact mappings (from CISMeF team)
- Lymphedema-Distichiasis syndrome with renal disease and diabetes mellitus [MeSH concept]
- Lymphedema-Distichiasis syndrome with renal disease and diabetes mellitus [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Distichiasis-lymphedema syndrome (disorder) [SNOMED CT concept]
- Lymphedema distichiasis syndrome [MeSH concept]
- Lymphedema-Distichiasis Syndrome [NCIt concept]
- Lymphedema-distichiasis syndrome [ORDO Disease]
- distichiasis-lymphedema syndrome [SNOMED Notion]
- lymphedema distichiasis syndrome [Disease (Nov.)]
- lymphedema distichiasis syndrome [MeSH Supplementary Concept]
- lymphedema-distichiasis syndrome [DO Concept]
DO Cross reference
- lymphedema-distichiasis syndrome [DO Concept]
Genes related to phenotype
- Forkhead box c2 [OMIM gene]
HPO term(s)
- Abnormality of cardiac conduction [HPO term]
- Abnormality of the musculature [HPO term]
- Arrhythmia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cellulitis [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Conjunctivitis [HPO term]
- Corneal ulceration [HPO term]
- Distichiasis [HPO term]
- Lymphedema [HPO term]
- Onset of lymphedema around puberty [HPO term]
- Patent ductus arteriosus [HPO term]
- Photophobia [HPO term]
- Predominantly lower limb lymphedema [HPO term]
- Ptosis [HPO term]
- Recurrent corneal erosions [HPO term]
- Tetralogy of Fallot [HPO term]
- Varicose veins [HPO term]
- Ventricular septal defect [HPO term]
- Yellow nails [HPO term]
ORDO concept(s)
- Lymphedema-distichiasis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Distichiasis-lymphedema syndrome (disorder) [SNOMED CT concept]
- Lymphedema distichiasis syndrome [MeSH concept]
- Lymphedema-Distichiasis Syndrome [NCIt concept]
- Lymphedema-distichiasis syndrome [ORDO Disease]
- distichiasis-lymphedema syndrome [SNOMED Notion]
- lymphedema distichiasis syndrome [MeSH Supplementary Concept]
- lymphedema distichiasis syndrome [Disease (Nov.)]
- lymphedema-distichiasis syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients