v-ATPase and Human Diseases

ATP6V0A1 - AD/AR Developmental and epileptic encephalopathy

Neurological disorder characterized by developmental delays and recurrent seizures. It typically manifests early in infancy and is often accompanied by cognitive and motor impairments. The condition involves a complex interplay of genetic and environmental factors, leading to a range of neurological symptoms and significant disability.

ATP6V0A2 - AR Cutis Laxa (Type IIA)

Rare genetic disorder characterized by loose, sagging skin with reduced elasticity. It affects the structure and function of elastic fibers in the skin and other connective tissues. Individuals with Cutis laxa (Type IIA) may experience respiratory, cardiovascular, and skeletal abnormalities, along with variable degrees of intellectual disability.

TCIRG1/ATP6V0A3 - AR Osteopetrosis

Rare genetic disorder that affects bone development and leads to increased bone density. It is characterized by defective osteoclast function, the cells responsible for breaking down and remodeling bone tissue. This results in brittle and abnormally dense bones, which can cause skeletal deformities, bone pain, and an increased risk of fractures.

ATP6V0A4 - AR Distal Renal Tubular Acidosis

Kidney disorder characterized by impaired acid secretion in the distal tubules of the kidneys. It leads to an inability to properly excrete acid from the body, resulting in an accumulation of acid and a decrease in blood pH. Common symptoms include metabolic acidosis, electrolyte imbalances, such as low potassium levels, and impaired growth in children.

ATP6V0C - AD Developmental and epileptic encephalopathy

Neurodevelopmental disorder characterized by a combination of developmental delays and frequent seizures. Symptoms often emerge in early infancy or childhood and are associated with significant cognitive and neurological impairments.

ATP6V0D2 - AR Skin and Joint Laxity

Skin and joint laxity refers to a condition characterized by looseness or excessive elasticity of the skin and joints. Individuals with skin and joint laxity may experience hypermobile joints, increased joint flexibility, and fragile or stretchy skin that is prone to bruising and tearing.

ATP6V1A - AD/AR Developmental and epileptic encephalopathy and AR Cutis Laxa (Type IID)

Potential combination of neurodevelopment delays, cognitive impairments and epilepsy with loose and sagging skin with reduced elasticity.

ATP6V1B1 - AR Renal Tubular Acidosis with Deafness

Rare kidney disorder that prevents the body from getting rid of excess acid. This can lead to a buildup of acid in the blood, which can cause a variety of health problems, including bone disease, kidney stones, and muscle weakness. Often individuals with this autosomal recessive condition experience severe hearing loss in childhood or young adulthood.

ATP6V1B2 - Several conditions described:

AD Dominant Deafness-Onychodystrophy Syndrome (DDOD): Disorder characterized by a combination of hearing loss and small or absent nails on the hands and feet.

AD Zimmerman- Laband Syndrome: Disorder characterized by a combination of facial, dental, and skeletal abnormalities. It is typically present at birth or becomes apparent in early childhood. The syndrome is characterized by features such as coarse facial appearance, gingival enlargement (enlarged gums), intellectual disability, and abnormalities in the fingers and toes.

AD DOORS Syndrome: Also known as Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures syndrome, it is characterized by a combination of hearing loss, nail abnormalities, skeletal abnormalities, intellectual disability, and seizures. DOORS syndrome is distinct from Zimmerman-Laband Syndrome as it includes additional features like osteodystrophy (abnormal bone development) and seizures, which are not typically present in Zimmerman-Laband Syndrome.

ATP6V1C2 - AR Distal Renal Tubular Acidosis

Kidney disorder characterized by impaired acid secretion in the distal tubules of the kidneys, leading to an accumulation of acid and a decrease in blood pH. It often presents with symptoms such as metabolic acidosis, electrolyte imbalances, and impaired growth in children. dRTA is different from other forms of renal tubular acidosis as it specifically affects the distal tubules of the kidneys, resulting in a distinct pattern of acid-base imbalances.

ATP6V1E1 - AR Cutis Laxa (Type IIC)

Genetic disorder characterized by loose and sagging skin with reduced elasticity and marked facial features.

ATP6V1H - AD Short Stature and Osteoporosis

Condition characterized by both reduced height and decreased bone density. Individuals with short stature and osteoporosis may be at a higher risk of fractures and may require specific interventions to address their bone health.