Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering is a rare genetic disorder characterized by thickening of the skin on the palms and soles of the feet, as well as the formation of blisters on the soles. I...

Autosomal dominant generalized dystrophic epidermolysis bullosa (AD-GDEB) is a rare genetic disorder that causes the skin to become fragile and blister easily. It is caused by mutations in the genes that produce proteins that help to form the skin...

Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form is a rare genetic disorder that affects the skin. It is caused by a mutation in the KRT5 gene, which is responsible for producing a protein called keratin 5. This prot...

Autosomal dominant generalized epidermolysis bullosa simplex, severe form is a rare genetic disorder that causes the skin to be fragile and easily damaged. It is caused by a mutation in the KRT5 gene, which is responsible for producing a protein t...

Autosomal Dominant Hereditary Ataxia (ADHA) is a type of inherited neurological disorder that affects the coordination and balance of the body. It is caused by a mutation in a gene on one of the autosomes, which are the non-sex chromosomes. Sympto...

Autosomal Dominant Hyper IgE Syndrome (AD-HIES) is a rare, inherited immune disorder characterized by recurrent skin and lung infections, elevated levels of immunoglobulin E (IgE), and an increased risk of developing certain types of cancer. It is...

Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare, inherited immune disorder characterized by recurrent skin infections, elevated levels of immunoglobulin E (IgE), and other immune system abnormalities. It is caused by mutations in the STA...

Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a rare genetic disorder that affects the way the body produces and uses insulin. It is caused by a mutation in the gene that codes for the protein Kir6.2, which is a component of the A...

Autosomal dominant hyperinsulinism due to SUR1 deficiency is a rare genetic disorder caused by a mutation in the ABCC8 gene, which encodes the SUR1 protein. This mutation results in a decrease in the activity of the SUR1 protein, which is responsi...

Autosomal dominant hypocalcemia is a rare inherited disorder characterized by low levels of calcium in the blood. It is caused by mutations in the calcium-sensing receptor gene, which is responsible for regulating calcium levels in the body. Sympt...

Autosomal dominant hypohidrotic ectodermal dysplasia (ADHED) is a rare genetic disorder that affects the development of the skin, hair, teeth, and sweat glands. People with ADHED have fewer sweat glands than normal, which can lead to overheating a...

Autosomal dominant hypophosphatemic rickets is a rare genetic disorder that affects the body's ability to absorb and use phosphorus. It is caused by mutations in the PHEX gene, which is responsible for regulating the amount of phosphate in the bod...

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome (ADID-CFCD) is a rare genetic disorder characterized by intellectual disability, craniofacial anomalies, and cardiac defects. It is caused by a mutation in ...

Autosomal dominant intermediate Charcot-Marie-Tooth disease type A (AD-CMT A) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by slowly progressive muscle weakness and wasting (atrophy) of the lowe...

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B (AD-CMTB) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by slowly progressive muscle weakness and wasting in the lower legs, fee...

Autosomal dominant intermediate Charcot-Marie-Tooth disease type C (AD-CMT C) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by slowly progressive muscle weakness and wasting, especially in the lo...

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D (AD-CMTD) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by slowly progressive muscle weakness and wasting (atrophy) of the lower...