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LMPHM8
MCID: LYM155
MIFTS: 19
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Lymphatic Malformation 8 (LMPHM8)
Categories:
Cardiovascular diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Respiratory diseases, Skin diseases
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MalaCards integrated aliases for Lymphatic Malformation 8:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset in utero death in utero carrier females have reduced fertility and recurrent miscarriages one consanguineous arab family has been reported (last curated february 2020) HPO:31
lymphatic malformation 8:
Onset and clinical course stillbirth Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Cardiovascular diseases Reproductive diseases Skin diseases Immune diseases Gastrointestinal diseases Respiratory diseases |
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UniProtKB/Swiss-Prot :
73
Lymphatic malformation 8: A 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.
MalaCards based summary : Lymphatic Malformation 8, is also known as lmphm8. An important gene associated with Lymphatic Malformation 8 is CALCRL (Calcitonin Receptor Like Receptor). Affiliated tissues include placenta, and related phenotypes are polyhydramnios and nonimmune hydrops fetalis OMIM® : 57 Lymphatic malformation-8 (LMPHM8) is an autosomal recessive disorder in which affected fetuses die in utero due to nonimmune hydrops fetalis (NIHF). The fetus and placenta are edematous with interstitial accumulation of fluid and abnormally shaped vessels. The disorder results from impaired lymphangiogenesis. Carrier females have reduced fertility and recurrent miscarriages likely due to NIHF (summary by Mackie et al., 2018). For a discussion of genetic heterogeneity of lymphatic malformation, see LMPHM1 (153100). (618773) (Updated 05-Mar-2021) |
Diseases in the Rare Lymphatic Malformation family:
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Human phenotypes related to Lymphatic Malformation 8:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618773 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Lymphatic Malformation 8:40
Placenta
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Articles related to Lymphatic Malformation 8:
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Genes related to Lymphatic Malformation 8 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Lymphatic Malformation 8:6
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Search
GEO
for disease gene expression data for Lymphatic Malformation 8.
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