From HPO
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Decreased body fat percentage- MedGen UID:
- 1723230
- •Concept ID:
- C5421709
- •
- Finding
The percentage of fat as a part of total body weight below the norm, usually defined as less than 14% for females and less than 8% for males.
Hepatic steatosis- MedGen UID:
- 398225
- •Concept ID:
- C2711227
- •
- Disease or Syndrome
Steatosis is a term used to denote lipid accumulation within hepatocytes.
Lipodystrophy- MedGen UID:
- 6111
- •Concept ID:
- C0023787
- •
- Disease or Syndrome
Degenerative changes of the fat tissue.
Loss of subcutaneous adipose tissue in limbs- MedGen UID:
- 325248
- •Concept ID:
- C1837764
- •
- Finding
Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg.
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.
Hyperglycemia- MedGen UID:
- 5689
- •Concept ID:
- C0020456
- •
- Disease or Syndrome
An increased concentration of glucose in the blood.
Insulin resistance- MedGen UID:
- 43904
- •Concept ID:
- C0021655
- •
- Pathologic Function
Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.
Decreased HDL cholesterol concentration- MedGen UID:
- 57731
- •Concept ID:
- C0151691
- •
- Finding
An decreased concentration of high-density lipoprotein cholesterol in the blood.
Elevated circulating hepatic transaminase concentration- MedGen UID:
- 116013
- •Concept ID:
- C0235996
- •
- Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Hypertriglyceridemia- MedGen UID:
- 167238
- •Concept ID:
- C0813230
- •
- Finding
An abnormal increase in the level of triglycerides in the blood.
Hyperinsulinemia- MedGen UID:
- 43779
- •Concept ID:
- C0020459
- •
- Disease or Syndrome
An increased concentration of insulin in the blood.
Decreased adiponectin level- MedGen UID:
- 892903
- •Concept ID:
- C4073127
- •
- Finding
A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the endocrine system
- Abnormality of the musculoskeletal system
- Growth abnormality