Disease Directory

ACys amyloidosis, also known as hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type, is a rare genetic condition. It typically sta...

ADAM9-related retinopathy is a rare inherited condition that affects the retina, an important part of the eye responsible for receiving light and enab...

ADAR-related type 1 interferonopathy is a condition where a change in the ADAR gene leads to problems with the type 1 interferon pathway. This conditi...

ADNP-related multiple congenital anomalies–intellectual disability–autism spectrum disorder is a neurodevelopmental condition that affects many body s...

ADULT syndrome is a rare genetic condition that affects the skin, nails, teeth, and other parts of the body. It is classified as an ectodermal dysplas...

ADan amyloidosis is a type of cerebral amyloid angiopathy. This condition is marked by changes in the brain that lead to problems with balance, tremor...

AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss is a rare condition caused by changes in both copies of the AFG...

AFG3L2-related optic atrophy and/or spastic ataxia spectrum is a condition caused by changes in the AFG3L2 gene. It is defined by the presence of opti...

AFib amyloidosis is a rare condition marked by abnormal protein deposits. It is also known by several names, including familial amyloid nephropathy du...

AGAT deficiency is a very rare condition that is part of a group of disorders known as creatine deficiency syndromes. Creatine is important for energy...

Information about the overall features of AH amyloidosis is currently limited for this condition. It is sometimes referred to as heavy chain amyloidos...

AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome is a complex, multi-system condition that affects neurodev...

AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis. It is characterized by a number of serious clinical features that were ob...

AIDS dementia complex is a neurologic condition linked to acquired immunodeficiency syndrome (AIDS). It is mainly associated with HIV-1 viral infectio...

AIDS-related primary central nervous system lymphoma (PCNSL) is a type of lymphoma that occurs in the central nervous system of individuals with HIV....

AIPL1-related retinopathy is a disorder of the retina that is caused by biallelic variants in the AIPL1 gene. This means that changes occur in both co...

AKT2-related familial partial lipodystrophy is a rare condition known by several names, including AKT2-related FPLD and familial partial lipodystrophy...

AKT3-related overgrowth spectrum is a condition where there is an abnormal increase in growth. This condition is caused by a gain-of-function variant...

AL amyloidosis is a plasma cell disorder characterized by the deposition of amyloid fibrils derived from misfolded monoclonal immunoglobulin light cha...

ALDH18A1-related de Barsy syndrome is a rare genetic condition that is characterized by intellectual deficit, bilateral cataracts, and skin and joint...