Diseases

Aspartylglucosaminuria

aspartylglucosaminuria

Basic Information

Grouped by core information, identifiers, and descriptions.

Quick relations do not expand inferred candidates by default. Load path-derived ingredients or herbs when needed.

Description: SNOMEDCT_US_2016_09_01:A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages. To date, mutations in three genes have been demonstrated; KRIT1, CCM2 and PDCD10, located on chromosome 7q21.2, 7p13, and 3q26.1 respectively, which encode proteins that, among their various functions, modulate junction formation between vascular endothelial cells. Transmitted as an autosomal dominant trait with incomplete penetrance.|SNOMEDCT_US_2016_09_01:A rare evolutive vascular malformation disorder characterised by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral haemorrhages. To date, mutations in three genes have been demonstrated; KRIT1, CCM2 and PDCD10, located on chromosome 7q21.2, 7p13, and 3q26.1 respectively, which encode proteins that, among their various functions, modulate junction formation between vascular endothelial cells. Transmitted as an autosomal dominant trait with incomplete penetrance.

Direct relations and traceable candidates grouped by relation type.

target disease8 Targets

aspartylglucosaminidase

arginine vasopressin

epidermal growth factor