From HPO
Pancreatic insulinoma- MedGen UID:
- 43907
- •Concept ID:
- C0021670
- •
- Neoplastic Process
A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia.
Multiple pancreatic beta-cell adenomas- MedGen UID:
- 870277
- •Concept ID:
- C4024718
- •
- Neoplastic Process
The presence of multiple pancreatic islet cell adenomas.
Type 2 diabetes mellitus- MedGen UID:
- 41523
- •Concept ID:
- C0011860
- •
- Disease or Syndrome
WFS1 spectrum disorder (WFS1-SD) comprises classic WFS1 spectrum disorder and nonclassic WFS1 spectrum disorder. Classic WFS1-SD, a progressive neurodegenerative disorder, is characterized by onset of diabetes mellitus and optic atrophy before age 16 years. Additional complications may include one or more of the following: variable hearing impairment / deafness, diabetes insipidus, neurologic abnormalities, neurogenic bladder, and psychiatric abnormalities. Nonclassic WFS1-SD is less common than classic WFS1-SD. Phenotypes that appear to be milder than classic WFS1-SD include: optic atrophy and hearing impairment; neonatal diabetes, profound congenital deafness, and cataracts; isolated diabetes mellitus; isolated congenital cataracts; and isolated congenital, slowly progressive, and low-frequency (<2000 Hz) sensorineural hearing loss.
Impaired glucose tolerance- MedGen UID:
- 852424
- •Concept ID:
- C0151671
- •
- Finding
An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.
Hyperinsulinemic hypoglycemia- MedGen UID:
- 351247
- •Concept ID:
- C1864903
- •
- Disease or Syndrome
An increased concentration of insulin combined with a decreased concentration of glucose in the blood.
Developmental cataract- MedGen UID:
- 3202
- •Concept ID:
- C0009691
- •
- Congenital Abnormality
A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.
Glaucoma of childhood- MedGen UID:
- 453382
- •Concept ID:
- C2981140
- •
- Disease or Syndrome
Other individuals experience early onset of primary open-angle glaucoma, the most common adult form of glaucoma. If primary open-angle glaucoma develops during childhood or early adulthood, it is called juvenile open-angle glaucoma.\n\nStructural abnormalities that impede fluid drainage in the eye increase ocular pressure. These abnormalities may be present at birth and usually become apparent during the first year of life. Such structural abnormalities may be part of a genetic disorder that affects many body systems, called a syndrome. If glaucoma appears before the age of 3 without other associated abnormalities, it is called primary congenital glaucoma.\n\nUsually glaucoma develops in older adults, in whom the risk of developing the disorder may be affected by a variety of medical conditions including high blood pressure (hypertension) and diabetes mellitus, as well as family history. The risk of early-onset glaucoma depends mainly on heredity.\n\nIn most people with glaucoma, the damage to the optic nerves is caused by increased pressure within the eyes (intraocular pressure). Intraocular pressure depends on a balance between fluid entering and leaving the eyes.\n\nGlaucoma is a group of eye disorders in which the optic nerves connecting the eyes and the brain are progressively damaged. This damage can lead to reduction in side (peripheral) vision and eventual blindness. Other signs and symptoms may include bulging eyes, excessive tearing, and abnormal sensitivity to light (photophobia). The term "early-onset glaucoma" may be used when the disorder appears before the age of 40.
- Abnormality of metabolism/homeostasis
- Abnormality of the endocrine system
- Abnormality of the eye
- Neoplasm