Understanding 21-Hydroxylase Deficiency and CAH disease
Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency, also known as 21-hydroxylase deficiency, is related to lipoid congenital adrenal hyperplasia and ehlers-danlos syndrome. An important gene associated with Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency is CYP21A2 (Cytochrome P450 Family 21 Subfamily A ...
Understanding Epidermolysis Bullosa Simplex disease
Epidermolysis Bullosa Simplex, also known as ebs, is related to epidermolysis bullosa simplex 1b, generalized intermediate and epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive. An important gene associated with Epidermolysis Bullosa Simplex is KRT5 (Keratin 5), and among its related ...
Evaluating Episodic Ataxia Type 2 Management disease
Episodic Ataxia, Type 2, also known as episodic ataxia type 2, is related to familial hemiplegic migraine and hereditary ataxia, and has symptoms including ataxia, tinnitus and vertigo. An important gene associated with Episodic Ataxia, Type 2 is CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A), and among its related ...
Managing CEDNIK Syndrome: A Healthy Lifestyle Approach disease
Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome, also known as cednik syndrome, is related to mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma and ichthyosis. An important gene associated with Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar ...
Living with SPMS: Managing and Coping disease
Secondary Progressive Multiple Sclerosis, also known as multiple sclerosis, secondary progressive, is related to relapsing-remitting multiple sclerosis and multiple sclerosis. An important gene associated with Secondary Progressive Multiple Sclerosis is MBP (Myelin Basic Protein), and among its related pathways/superpathways are superpathway ...