Hereditary Primary Localized Cutaneous Amyloidosis-1

Preferred Label : Hereditary Primary Localized Cutaneous Amyloidosis-1;

NCIt synonyms : PLCA1;

NCIt related terms : Familial Primary Localized Cutaneous Amyloidosis-1;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the OSMR gene, encoding oncostatin-M-specific receptor subunit beta. It is characterized by localized cutaneous amyloidosis.;

Neoplastic status : Undetermined;

NCI Metathesaurus CUI : CL1794161;

Details

Origin ID

C189282;

UMLS CUI

C4551501;

Currated CISMeF NLP mapping
- Amyloidosis, primary localized cutaneous, 1 [OMIM Phenotype]
- primary localized cutaneous amyloidosis 1 [DO Concept]
Disease excludes abnormal cell
- Neoplastic T-Lymphocyte and Neoplastic Natural Killer Cell [NCIt concept]
Disease excludes normal cell origin
- Myeloid Cell [NCIt concept]
- Precursor B-Lymphoblast [NCIt concept]
Disease may have findings
- Hepatomegaly [NCIt concept]
- Neoplastic Plasma Cells Present in Bone Marrow [NCIt concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
- Integumentary System [NCIt concept]
- Skin [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amyloidosis, primary localized cutaneous, 1 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_abnormal_cell
- Abnormal Lymphocyte [NCIt concept]
- Neoplastic B-Lymphocyte [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Hematopoietic and Lymphoid Cell [NCIt concept]
- Neoplastic Lymphocyte [NCIt concept]
disease_has_finding
- Amyloid Deposition [NCIt concept]
- Apple Green Dichromism Present in Polarized Congo-Red Stained Sections [NCIt concept]
- Cutaneous Involvement [NCIt concept]
- Hereditary Lesion [NCIt concept]
- Immunoglobulin Deposition [NCIt concept]
- Localized Skin Lesion [NCIt concept]
- Primary Lesion [NCIt concept]
disease_has_molecular_abnormality
- OSMR Gene Mutation [NCIt concept]
disease_has_normal_cell_origin
- B-Lymphocyte [NCIt concept]
- Hematopoietic and Lymphoid Cell [NCIt concept]
- Lymphocyte [NCIt concept]
- Mature B-Lymphocyte [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
- Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
- Lymphatic System [NCIt concept]
- Skin [NCIt concept]
disease_mapped_to_gene
- OSMR Gene [NCIt concept]
disease_may_have_associated_disease
- Congestive Heart Failure [NCIt concept]
- Malabsorption Syndrome [NCIt concept]
- Multiple Myeloma [NCIt concept]
- Nephrotic Syndrome [NCIt concept]
- Neuropathy [NCIt concept]
- Renal Failure [NCIt concept]
pathogenesis_of_disease_involves_gene
- OSMR Gene [NCIt concept]
- OSMR wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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