Lymphatic Malformation 5 (LMPHM5)

External Ids:

MedlinePlus Genetics: ⁴² Meige disease is a condition that affects the normal function of the lymphatic system. The lymphatic system consists of a network of vessels that transport lymphatic fluid and immune cells throughout the body. Meige disease is characterized by the abnormal transport of lymphatic fluid. When this fluid builds up abnormally, it causes swelling (lymphedema) in the lower limbs.Meige disease is classified as a primary lymphedema, which means it is a form of lymphedema that is not caused by other health conditions. In Meige disease, the lymphatic system abnormalities are present from birth (congenital), although the swelling is not usually apparent until puberty. The swelling often begins in the feet and ankles and progresses up the legs to the knees. Some affected individuals develop non-contagious skin infections called cellulitis or erysipelas in the legs, which can further damage the vessels that carry lymphatic fluid.

MalaCards based summary: Lymphatic Malformation 5, also known as meige syndrome, is related to lymphatic malformation 1 and congenital lymphedema. An important gene associated with Lymphatic Malformation 5 is EPHB4 (EPH Receptor B4). The drugs Acetylcholine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, ovary and tongue, and related phenotypes are atypical scarring of skin and cellulitis

OMIM®: ⁵⁷ Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014). For a discussion of the genetic heterogeneity of lymphocytic malformation, see 153100. (153200) (Updated 08-Dec-2022)

Orphanet ⁵⁸ Meigs syndrome: Meigs syndrome is a rare neoplastic disease characterized by the clinical triad of benign ovarian tumor (typically, ovarian fibroma or fibroma-like tumor), hydrothorax and ascites, which resolve after tumor resection. Patients usually present with dyspnea, pelvic mass with or without a tender, distended abdomen and/or weight loss.

Meige disease: Meige disease is a frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty.

GARD: ¹⁹ Meige syndrome is a rare, neurological condition characterized by blepharospasm (abnormal movement of the eyelids); oromandibular dystonia (spasms in the jaw and tongue); and sometimes, cervical dystonia. Symptoms and severity can vary. The exact cause of Meige syndrome is unknown.

UniProtKB/Swiss-Prot: ⁷³ A chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections, and physical impairment.

Disease Ontology: ¹¹ A cranio-facial dystonia that is accompanied by blepharospasm.

Wikipedia: ⁷⁵ Meige's syndrome is a type of dystonia. It is also known as Brueghel's syndrome and oral facial... more...

Clinical features from OMIM®:

Search NIH Clinical Center for Lymphatic Malformation 5