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VARIANT - TERM ANNOTATION REPORT

RGD ID: 11050965
Species: Homo sapiens
RGD Object: Variant
Symbol: CV214053
Name: NM_000169.3(GLA):c.59C>A (p.Ala20Asp)
Acc ID: HP:0001071
Term: Angiokeratoma corporis diffusum
Definition: Angiokeratoma corporis diffusum (ACD) is typically characterized by innumerable small red to black papules which occur in clusters and are situated symmetrically in the bathing trunks area. The number of lesions and the extension of the body increase steadily with time so that generalization and mucosal involvement are common. The single lesion begins with a minute reddish papule which enlarges to up to 10 mm in diameter, becomes dark red to black with a discrete keratotic overgrowth. Histologically, the papules are characterized by superficial dilated capillaries in papillary dermis with epidermal proliferation.
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
CV214053 IAGP 8554872ClinVarClinVar Annotator: match by term: Angiokeratoma corporis diffusum

PMID:17555407 PMID:23935525 PMID:25741868 PMID:26415523 PMID:27657681 PMID:28492532 PMID:33204599 PMID:7596372
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