DMD gene
The DMD (Duchenne muscular dystrophy) gene is a vital gene that is related to a familial and small cause of muscular dystrophy. It is an x-linked gene that has the ability to cause nerve and cardiomyopathy conditions to anyone who…
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Restless legs syndrome
The restless legs syndrome (RLS) is a neurological condition that affects the nervous system and causes an irresistible urge to move the legs. It is also known as Willis-Ekbom disease. The symptoms of RLS usually occur during periods of rest…
RAPADILINO syndrome
Rapadilino syndrome is a rare genetic disorder. It is caused by mutations in the RECQL4 gene. This gene provides instructions for making a protein called RECQ helicase-like enzyme. The condition is characterized by growth retardation, skeletal abnormalities, and peculiar thumbs.…
Tingling Feeling In Head
A tingling feeling in the head is a peculiar sensation that can be quite alarming for individuals experiencing it. This sensation is often described as a pins-and-needles-like feeling that is often accompanied by numbness and a prickling sensation on the…
Torn Frenulum
The frenulum is a small band of tissue that connects the tongue to the floor of the mouth. It plays a crucial role in the functioning of the mouth and is prone to injury. A torn frenulum, also known as…
IGHMBP2 gene
The IGHMBP2 gene encodes a protein called immunoglobulin mu-binding protein 2 (IGHMBP2). This protein plays a crucial role in the survival and development of motor neurons, which are responsible for controlling muscle movement. Mutations in the IGHMBP2 gene can lead…
Vohwinkel syndrome
Vohwinkel syndrome, also known as Vohwinkel syndrome with mutilating keratoderma, is a rare genetic condition characterized by the presence of tight skin on the fingers and toes. The syndrome is inherited in an autosomal dominant pattern, meaning that an affected…
HJV gene
The HJV gene, also known as hemojuvelin gene (HFE2), is a key gene involved in the regulation of iron homeostasis. Mutations in this gene can lead to various hereditary hemochromatosis conditions, characterized by excessive iron accumulation in the body. Juvenile…
ARMC5 gene
The ARMC5 gene, also known as armadillo repeat containing 5, is a gene that encodes a protein involved in the regulation of adrenal gland function. Mutations in the ARMC5 gene have been associated with various conditions, including primary macronodular adrenal…
GRN-related frontotemporal lobar degeneration
GRN-related frontotemporal lobar degeneration (FTLD) is a progressive neurodegenerative condition characterized by the buildup of abnormal proteins in the brain. It is associated with dementia, which affects the frontotemporal lobes, resulting in changes in behavior, personality, and language abilities. FTLD…