Details of Disease

General Information of Disease (ID: DISUJCP4)

Disease Name Lymphedema-distichiasis syndrome
Synonyms lymphedema-distichiasis syndrome with renal disease and diabetes mellitus; hereditary lymphedema-distichiasis syndrome (subtype); lymphedema with distichiasis; lymphedema-distichiasis syndrome
Definition
Lymphedema - distichiasis is a rare syndromic lymphedema disorder 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.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DIS4D8VL: Lymphatic malformation
DISUJCP4: Lymphedema-distichiasis syndrome
Disease Identifiers
MONDO ID
MONDO_0007922
MESH ID
C537710
UMLS CUI
C0265345
OMIM ID
153400
MedGen ID
75566
Orphanet ID
33001
SNOMED CT ID
8634009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FOXC2 TTLBAP1 Limited Genetic Variation [1]
FOXC2 TTLBAP1 Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FOXC2 OT83P1E0 Definitive Autosomal dominant [2]
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References

1 Novel FOXC2 Mutation and Distichiasis in a Patient With Lymphedema-Distichiasis Syndrome.Ophthalmic Plast Reconstr Surg. 2018 May/Jun;34(3):e88-e90. doi: 10.1097/IOP.0000000000001079.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.