Meige disease

General Information (adopted from Orphanet):

Synonyms, Signs: MEIGE DISEASE
LYMPHEDEMA PRAECOX
LYMPHEDEMA, LATE-ONSET
Hereditary lymphedema type II
meige lymphedema
Number of Symptoms 12
OrphanetNr: 90186
OMIM Id: 153200
ICD-10: I89.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Late-onset primary lymphedema
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000175) Cleft palate Occasional [HPO:probinson] 349 / 7739
2
 (HPO:0011367) Yellow nails Occasional [HPO:probinson] 2 / 7739
3
 (HPO:0003550) Predominantly lower limb lymphedema 5 / 7739
4
 (HPO:0003759) Hypoplasia of lymphatic vessels 4 / 7739
5
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
 (OMIM) Upper limb and facial involvement 1 / 7739
7
 (OMIM) Cleft palate may occur 1 / 7739
8
 (OMIM) Onset around puberty 2 / 7739
9
 (OMIM) Lymphedema, predominantly in the lower limbs 4 / 7739
10
 (OMIM) Facial swelling 1 / 7739
11
 (OMIM) Lymphography shows hypoplasia of lymphatic vessels 2 / 7739
12
 (OMIM) Yellow nails may occur 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Edema, particularly severe below the waist, develops about the time of puberty. Meige (1898) described 8 cases in 4 generations without male-to-male transmission. Goodman (1962) reported the condition in 2 sisters and a brother with presumed normal parents ...
Molecular genetics OMIM Finegold et al. (2001) reported a mutation in the FOXC2 gene (589insC; 602402.0007) in a family with supposed Meige lymphedema. Rezaie et al. (2008) disputed the clinical diagnosis of the family reported by Finegold et al. (2001). The ...