LMPHM9
MCID: LYM158
MIFTS: 19
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Lymphatic Malformation 9 (LMPHM9)
Categories:
Cancer diseases, Cardiovascular diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Oral diseases, Rare diseases, Reproductive diseases, Respiratory diseases, Skin diseases
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MalaCards integrated aliases for Lymphatic Malformation 9:Characteristics:Inheritance:
Autosomal dominant 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
variable expressivity incomplete penetrance onset in first decade women mutation carriers are more likely to be affected than men Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Fetal diseases Anatomical: Immune diseases Cardiovascular diseases Reproductive diseases Skin diseases Neuronal diseases Gastrointestinal diseases Respiratory diseases Oral diseases |
UniProtKB/Swiss-Prot: 73 A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. Impaired lymphatic drainage in the fetus can develop into hydrops fetalis, a severe condition characterized by excessive fluid accumulation in more than two fetal extra-vascular compartments and body cavities, placental enlargement and edema, pericardial or pleural effusion, or ascites. LMPHM9 is an autosomal dominant form with variable expressivity and incomplete penetrance, characterized by the onset of lower-extremity lymphedema in the first decades of life. MalaCards based summary: Lymphatic Malformation 9, is also known as lmphm9. An important gene associated with Lymphatic Malformation 9 is CELSR1 (Cadherin EGF LAG Seven-Pass G-Type Receptor 1). Related phenotypes are predominantly lower limb lymphedema and tortuous lymphatic vessels OMIM®: 57 Lymphatic malformation-9 (LMPHM9) is an autosomal dominant disorder characterized by the onset of lower-extremity lymphedema in the first decades of life. Imaging may show lymph backflow and defects in lymph channel valves. There is variable expressivity and incomplete penetrance; female mutation carriers are more likely to show disease manifestations than male carriers (summary by Erickson et al., 2019). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100. (619319) (Updated 08-Dec-2022) |
Human phenotypes related to Lymphatic Malformation 9:30
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:619319 (Updated 08-Dec-2022) |
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Articles related to Lymphatic Malformation 9:
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ClinVar genetic disease variations for Lymphatic Malformation 9:5
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