Neurologic, Endocrine and Pancreatic Disease, Multisystem, Infantile-Onset 2; IMNEPD2
OMIM number: 619418
Comments closing date: 08/05/2026
Infantile onset neurologic, endocrine and pancreatic disease 2 (IMNEPD2) is a hereditary, multisystemic disorder causing a variety of severely impairing symptoms. Patients typically have growth development issues due to poor feeding, liver impairment due to disrupted bile flow and low blood sugar from infancy. Those that suffer typically have reduced mental development and disorders of the senses, such as deafness, retinal abnormalities leading to visual impairment. Severe impairment of internal organs can present, particularly affecting the liver (enlarged liver, fibrosis, fatty liver, cirrhosis and cholestasis) and the kidneys (blood and protein in the urine, kidney inflammation and kidney failure). A number of brain issues are typically observed, including seizures, low intellectual development, cerebral atrophy, motor delay and the poor, or lack of ability to speak. Endocrine issues are often encountered, leading to low blood sugar due to pancreatic insufficiency, lack of menstruation in females and underactive thyroid, itself leading to fatigue. Overall though the clinical presentation of the disease is highly variable, in the worst case instance can lead to death in infancy, with those surviving suffering long term quality of life impairment due to the multi-systemic nature of the condition.
