Disease Directory

Information about overview is currently limited for this condition.

ABetaA21G amyloidosis, also known as the Flemish type of hereditary cerebral hemorrhage with amyloidosis (HCHWA), is a rare, inherited condition. It t...

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a condition that typically appears in people between 50 and 70 years of age....

ABri amyloidosis is a form of cerebral amyloid angiopathy that typically begins in the 4th to 6th decade of life. People with this condition experienc...

ACD-related long telomere syndrome is a telomere biology disorder. It is characterized by an increase in telomere length due to a pathogenic variant i...

ACD-related short telomere syndrome is a group of conditions that affect the protective ends of chromosomes called telomeres. In people with this cond...

ACD-related telomere biology disorder is a condition caused by a change in the ACD gene. This gene variant leads to abnormal telomere biology, which i...

ACO2-related optic atrophy with or without extraocular features is a condition where the optic nerve is affected due to genetic changes in the ACO2 ge...

ACTB-associated syndromic thrombocytopenia is a rare condition that affects several parts of the body. People with this condition may show signs such...

ACTC1-related distal arthrogryposis with congenital heart disease is a condition caused by changes in the ACTC1 gene. This condition is part of a grou...

ACTH-dependent Cushing syndrome is a form of endogenous Cushing syndrome where there is an abnormal production of ACTH. This occurs due to a pituitary...

ACTH-independent Cushing syndrome is a type of endogenous Cushing syndrome where the body produces too much cortisol. This excess cortisol production...

ACTH-independent adrenal Cushing syndrome, somatic is a rare disease. Detailed information about this condition is currently limited in medical litera...

ACTH-independent macronodular adrenal hyperplasia 1 is a rare condition that causes a form of Cushing syndrome. This condition occurs due to abnormal...

ACTH-independent macronodular adrenal hyperplasia 2 is a rare form of adrenal gland disorder. In this condition, the adrenal glands develop large nodu...

ACTH-independent macronodular adrenal hyperplasia 3 is a rare form of Cushing syndrome caused by overactive adrenal glands. In this condition, the adr...

ACTH-producing pituitary gland adenoma is a type of benign tumor that forms in the pituitary gland and produces corticotropin (ACTH). The vast majorit...

ACTH-producing pituitary gland carcinoma is a rare type of pituitary gland cancer. It can either produce hormones or not, but in this case it produces...

This condition is a type of tumor in the pituitary gland that produces the hormone corticotropin. It can be either a benign adenoma or a malignant car...

ACTN2-related cardiac and skeletal myopathy is a condition caused by changes in the ACTN2 gene. This gene change affects both the heart muscle and the...