From HPO
Kaposi sarcoma- MedGen UID:
- 11321
- •Concept ID:
- C0036220
- •
- Neoplastic Process
Kaposi sarcoma (KS) is an invasive angioproliferative inflammatory condition that occurs commonly in men infected with human immunodeficiency virus (HIV; see 609423). In the early stages of KS, lesions appear reactive and are stimulated to grow by the actions of inflammatory cytokines and growth factors. In the late stages of KS, a malignant phenotype that appears to be monoclonal can develop. Infection with human herpesvirus-8 (HHV-8), also known as KS-associated herpesvirus (KSHV), is necessary but not sufficient for KS development. Coinfection with HIV markedly increases the likelihood of KS development, and additional environmental, hormonal, and genetic cofactors likely contribute to its pathogenesis (summary by Foster et al., 2000).
Suthaus et al. (2012) noted that HHV-8 is the etiologic agent not only of KS, but also of primary effusion lymphoma and plasma cell-type multicentric Castleman disease (MCD).
Thrombocytopenia- MedGen UID:
- 52737
- •Concept ID:
- C0040034
- •
- Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Amelogenesis imperfecta- MedGen UID:
- 240
- •Concept ID:
- C0002452
- •
- Congenital Abnormality
A developmental dysplasia of the dental enamel.
Hypotonia- MedGen UID:
- 10133
- •Concept ID:
- C0026827
- •
- Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Myopathy- MedGen UID:
- 10135
- •Concept ID:
- C0026848
- •
- Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Autoimmune hemolytic anemia- MedGen UID:
- 1918
- •Concept ID:
- C0002880
- •
- Disease or Syndrome
An autoimmune form of hemolytic anemia.
Immunodeficiency- MedGen UID:
- 7034
- •Concept ID:
- C0021051
- •
- Disease or Syndrome
Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
Recurrent infections- MedGen UID:
- 65998
- •Concept ID:
- C0239998
- •
- Finding
Increased susceptibility to infections.
Lymphadenopathy- MedGen UID:
- 96929
- •Concept ID:
- C0497156
- •
- Disease or Syndrome
Enlargment (swelling) of a lymph node.
Recurrent bacterial infections- MedGen UID:
- 334943
- •Concept ID:
- C1844383
- •
- Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
Recurrent fever- MedGen UID:
- 811468
- •Concept ID:
- C3714772
- •
- Sign or Symptom
Periodic (episodic or recurrent) bouts of fever.
Hypohidrosis- MedGen UID:
- 43796
- •Concept ID:
- C0020620
- •
- Disease or Syndrome
Abnormally diminished capacity to sweat.
Nail dysplasia- MedGen UID:
- 331737
- •Concept ID:
- C1834405
- •
- Congenital Abnormality
The presence of developmental dysplasia of the nail.
Hypoplasia of the iris- MedGen UID:
- 91029
- •Concept ID:
- C0344539
- •
- Congenital Abnormality
Congenital underdevelopment of the iris.
- Abnormality of blood and blood-forming tissues
- Abnormality of metabolism/homeostasis
- Abnormality of the eye
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Neoplasm