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LMPHM7
MCID: LYM150
MIFTS: 40
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Lymphatic Malformation 7 (LMPHM7)
Categories:
Cardiovascular diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases
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MalaCards integrated aliases for Lymphatic Malformation 7:
Characteristics:OMIM:56
Miscellaneous:
variable expressivity variable severity variability in age of onset (prenatal to adolescence) onset of hydrops fetalis in utero hydrops fetalis is associated with high morbidity and mortality in the neonatal period hydrops resolves spontaneously with time after the neonatal period
Inheritance:
autosomal dominant HPO:31
lymphatic malformation 7:
Inheritance autosomal dominant inheritance Onset and clinical course variable expressivity Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Immune diseases Cardiovascular diseases Neuronal diseases Reproductive diseases Skin diseases Gastrointestinal diseases |
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UniProtKB/Swiss-Prot :
73
Lymphatic malformation 7: 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. LMPHM7 is an autosomal dominant form with variable expressivity. Some individuals present with severe non-immune hydrops fetalis, which may cause perinatal demise or fully resolve after the neonatal period. Others present with no edema and have milder clinical features, such as atrial septal defect or varicose veins as adults.
MalaCards based summary : Lymphatic Malformation 7, also known as hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to, is related to hydrops fetalis, nonimmune and immune hydrops fetalis. An important gene associated with Lymphatic Malformation 7 is EPHB4 (EPH Receptor B4). The drugs Ibuprofen and Analgesics, Non-Narcotic have been mentioned in the context of this disorder. Affiliated tissues include lung, t cells and testes, and related phenotypes are anemia and atrial septal defect OMIM : 56 LMPHM7 is an autosomal dominant disorder with variable expressivity. Some patients may develop severe nonimmune lymphatic-related hydrops fetalis (LRHF) in utero, resulting in early death, whereas others may have milder manifestations, such as atrial septal defect (ASD) or varicose veins as adults. The hydrops and/or swelling improves spontaneously in those who survive the neonatal period (summary by Martin-Almedina et al., 2016). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100. (617300) |
Human phenotypes related to Lymphatic Malformation 7:31 (show all 10)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:617300 |
Drugs for Lymphatic Malformation 7 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 14)
Interventional clinical trials:(show all 16)
Cochrane evidence based reviews: hydrops fetalis |
MalaCards organs/tissues related to Lymphatic Malformation 7:40
Lung,
T Cells,
Testes
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Articles related to Lymphatic Malformation 7:(show top 50) (show all 95)
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Genes related to Lymphatic Malformation 7 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Lymphatic Malformation 7:6
UniProtKB/Swiss-Prot genetic disease variations for Lymphatic Malformation 7:73
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Search
GEO
for disease gene expression data for Lymphatic Malformation 7.
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