Kaposi's sarcoma

General Information (adopted from Orphanet):

Synonyms, Signs: MULTIPLE IDIOPATHIC PIGMENTED HEMANGIOSARCOMA, SUSCEPTIBILITY TO MULTICENTRIC CASTLEMAN DISEASE, SUSCEPTIBILITY TO, INCLUDED
MCD, INCLUDED
Number of Symptoms 8
OrphanetNr: 33276
OMIM Id: 148000
ICD-10: C46
UMLs: C0036220
MeSH: D012514
MedDRA: 10023284
Snomed: 109385007
49937004

Prevalence, inheritance and age of onset:

Prevalence: 2.11 of 100 000 [Orphanet]
Inheritance: Not applicable
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: HHV-8 related disorders
 -Rare infectious disease
 -Rare oncologic disease
Soft tissue sarcoma
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
(HPO:0001034) Hypermelanotic macule 22 / 7739
2
(HPO:0100726) Kaposi's sarcoma 3 / 7739
3
(HPO:0010741) Edema of the lower limbs 34 / 7739
4
(HPO:0000969) Edema 117 / 7739
5
(HPO:0007514) Edema of the dorsum of hands 7 / 7739
6
(HPO:0002664) Neoplasm 111 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(OMIM) Red-purple nodules, plaques, and macules 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM KS usually presents as red-purple nodules, plaques, and macules. Initial lesions are usually on the limbs and are often associated with edema due to tumor infiltration of superficial lymphatics. Zeligman (1960) observed the disorder in father and son. ...
Molecular genetics OMIM Foster et al. (2000) found a strong association between the IL6 gene promoter polymorphism (-174G-C; 147620.0001) and susceptibility to Kaposi sarcoma in HIV-infected men. Homozygotes for IL6 allele G, associated with increased IL6 production, were overrepresented among patients ...
Population genetics OMIM In studies in Iceland and the Faroe Islands, Hjalgrim et al. (1998) found an unusually high incidence of non-AIDS-related Kaposi sarcoma. The basis for this high frequency was not evident.

Guttman-Yassky et al. (2003) investigated trends ...