LMNA-CMD: Symptoms, Care, and Lifestyle disease
Muscular Dystrophy, Congenital, Lmna-Related, also known as congenital muscular dystrophy, is related to congenital muscular dystrophy-dystroglycanopathy a14 and congenital muscular dystrophy-dystroglycanopathy type a5. An important gene associated with Muscular Dystrophy, Congenital, Lmna-Related is LMNA (Lamin A/C), and among its related ...
Understanding Mohr-Tranebjaerg Syndrome disease
Mohr-Tranebjaerg Syndrome, also known as deafness-dystonia-optic neuronopathy syndrome, is related to dystonia and x-linked nonsyndromic deafness, and has symptoms including dystonia, muscle spasticity and tremor. An important gene associated with Mohr-Tranebjaerg Syndrome is TIMM8A (Translocase Of Inner Mitochondrial Membrane 8A), and among ...
Understanding Retinitis Pigmentosa-Deafness Syndrome disease
Retinitis Pigmentosa-Deafness Syndrome, also known as retinitis pigmentosa 21, formerly, is related to usher syndrome and deafness, autosomal recessive 83, and has symptoms including coughing, snoring and tinnitus. An important gene associated with Retinitis Pigmentosa-Deafness Syndrome is MT-TS2 (Mitochondrially Encoded TRNA-Ser (AGU/C) 2), ...
CUBN Deficiency: Rare Anemia and Autoimmune Syndrome disease
Megaloblastic Anemia, also known as imerslund-grasbeck syndrome, is related to thiamine-responsive megaloblastic anemia syndrome and imerslund-grasbeck syndrome 1, and has symptoms including athetosis and cerebellar ataxia. An important gene associated with Megaloblastic Anemia is CUBN (Cubilin), and among its related pathways/superpathways ...
Understanding Zollinger-Ellison Syndrome disease
Zollinger-Ellison Syndrome, also known as gastrinoma, is related to multiple endocrine neoplasia and gastrinoma, and has symptoms including dyspepsia An important gene associated with Zollinger-Ellison Syndrome is GAST (Gastrin), and among its related pathways/superpathways are Class A/1 (Rhodopsin-like receptors) and GPCR downstream ...