Mulibrey Nanism malady
Genetic diseases, Rare diseases, Fetal diseases, Neuronal diseases, Liver diseases categories
Aliases & Descriptions for Mulibrey Nanism:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Liver diseases
Developmental anomalies during embryogenesis
Characteristics (Orphanet epidemiological data):51
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: elderly
NIH Rare Diseases:45 Mulibrey nanism is a rare genetic disorder characterized by profound growth delays and distinctive abnormalities of the muscles, liver, brain, and eyes. the acronym mulibrey stands for (mu)scle, (li)ver, (br)ain, and (ey)e; nanism is another word for dwarfism. signs and symptoms of the disorder may include constrictive pericarditis; low birth weight; short stature; severe progressive growth delays; hypotonia; hepatomegaly; and yellow discoloration of the eyes in infancy. it is caused by mutations in the trim37 gene and is inherited in an autosomal recessive manner. treatment may include surgery for constrictive pericarditis, medications for progressive heart failure and hormone replacement therapy. last updated: 6/2/2011
MalaCards based summary: Mulibrey Nanism, also known as muscle-liver-brain-eye nanism, is related to constrictive pericarditis and pericarditis, and has symptoms including macrocephaly, reduced tendon reflexes and intrauterine growth retardation. An important gene associated with Mulibrey Nanism is TRIM37 (Tripartite Motif Containing 37), and among its related pathways is Peroxisome. Affiliated tissues include liver, brain and eye, and related mouse phenotype reproductive system.
OMIM:49 Mulibrey nanism is a rare autosomal recessive growth disorder with prenatal onset, including occasional progressive... (253250) more...
UniProtKB/Swiss-Prot:67 Mulibrey nanism: An autosomal recessive growth disorder characterized by severe growth failure of prenatal onset, constrictive pericardium and progressive cardiomyopathy, facial dysmorphism, and failure of sexual maturation. Additional clinical features include hepatomegaly, muscle hypotonia, J-shaped sella turcica, yellowish dots in the ocular fundi, hypoplasia of various endocrine glands, insulin resistance with type 2 diabetes, and an increased risk for Wilms' tumor.
Wikipedia:68 Mulibrey nanism (\"MUscle-LIver-BRain-EYe nanism\"), also called Perheentupa syndrome and pericardial... more...
Symptoms by clinical synopsis from OMIM:253250
Clinical features from OMIM:253250
Symptoms:51 (show all 9)
HPO human phenotypes related to Mulibrey Nanism:(show all 35)
MalaCards organs/tissues related to Mulibrey Nanism:33
Liver, Brain, Eye, Heart
Articles related to Mulibrey Nanism:(show all 43)
UniProtKB/Swiss-Prot genetic disease variations for Mulibrey Nanism:67
Clinvar genetic disease variations for Mulibrey Nanism:5 (show all 18)
Search GEO for disease gene expression data for Mulibrey Nanism.
Cellular components related to Mulibrey Nanism according to GeneCards Suite gene sharing:
Biological processes related to Mulibrey Nanism according to GeneCards Suite gene sharing:
Molecular functions related to Mulibrey Nanism according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet