Disease - Lymphatic malformation 8
- DefinitionA form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Adult 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. LMPHM8 is an autosomal recessive form characterized by onset in utero and fetal death due to non-immune hydrops fetalis.
- AcronymLMPHM8
- Cross references
Disclaimer
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.Related UniProtKB entry
Browse 1 entry- Calcitonin gene-related peptide type 1 receptor · Gene: CALCRL (CGRPR) · Homo sapiens (Human) · 461 amino acids · Evidence at protein level · Annotation score: 5/5