Amyloidosis, primary localized cutaneous, 1

Preferred Label : Amyloidosis, primary localized cutaneous, 1;

Symbol : PLCA1;

CISMeF acronym : PCA1; PLCA1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lichen amyloidosis, familial; Amyloidosis ix; PCA; PCA1; Amyloidosis, familial cutaneous lichen; Amyloidosis, primary cutaneous, 1;

Description : Primary localized cutaneous amyloidosis is characterized clinically by pruritus and skin scratching and histologically by the finding of deposits of amyloid staining on keratinous debris in the papillary dermis (summary by Tanaka et al., 2009). - Genetic Heterogeneity of Primary Localized Cutaneous Amyloidosis Primary localized cutaneous amyloidosis-2 (613955) is caused by heterozygous mutation in the IL31RA gene (609510) on chromosome 5q11.2.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the oncostatin-M receptor gene (OSMR, 601743.0001);

Prefixed ID : #105250;

Details

Origin ID

105250;

UMLS CUI

C4551501;

Automatic exact mappings (from CISMeF team)
- ENPP1 wt Allele [NCIt concept]
- FLVCR heme transporter 1 [ORDO Gene]
- Familial primary localized cutaneous amyloidosis [ORDO Disease]
- Lichen amyloidosis [ORDO Disease]
- OSMR wt Allele [NCIt concept]
- PCA-1 [LOINC component]
- PCAT1 wt Allele [NCIt concept]
- Patent arterial duct [ORDO Disease]
- Posterior cortical atrophy [ICD-11 Subcategory]
- Posterior cortical atrophy [MedDRA Preferred Term]
- Prostate Cancer Associated Transcript 1 [NCIt concept]
- analgesia, Patient-Controlled [MeSH Descriptor]
- ductus arteriosus, patent [MeSH Descriptor]
- ductus arteriosus, patent [MeSH concept]
- ectonucleotide pyrophosphatase/phosphodiesterase 1 [ORDO Gene]
- primary cutaneous amyloidosis [DO Concept]
Currated CISMeF NLP mapping
- Dominant primary localized cutaneous amyloidosis (disorder) [SNOMED CT concept]
- Familial Primary Localized Cutaneous Amyloidosis-1 [NCIt concept]
- Familial lichen amyloidosis (disorder) [SNOMED CT concept]
- Posterior cortical atrophy [ORDO Disease]
- amyloidosis IX [MeSH concept]
- amyloidosis IX [MeSH Supplementary Concept]
- primary localized cutaneous amyloidosis 1 [DO Concept]
DO Cross reference
- primary cutaneous amyloidosis [DO Concept]
False automatic mappings
- Intravenous Patient-Controlled Analgesia [NCIt concept]
- Parachloroamphetamine [NCIt concept]
- Pidolic Acid [NCIt concept]
- Posterior Cerebral Artery [NCIt concept]
- Principal Component Analysis [NCIt concept]
- Pyroglutamic acid (substance) [SNOMED CT concept]
- passive cutaneous anaphylaxis [MeSH Descriptor]
- passive cutaneous anaphylaxis [MeSH concept]
Genes related to phenotype
- Oncostatin M receptor [OMIM gene]
HPO term(s)
- Abnormal cranial nerve morphology [HPO term]
- Adult onset [HPO term]
- Amyloidosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cutis laxa [HPO term]
- Dry skin [HPO term]
- Lattice corneal dystrophy [HPO term]
- Lichenification [HPO term]
- Pruritus [HPO term]
- Scaling skin [HPO term]
Not associated HPO term(s)
- Abnormal autonomic nervous system physiology [HPO term]
- Peripheral neuropathy [HPO term]
ORDO concept(s)
- Familial primary localized cutaneous amyloidosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dominant primary localized cutaneous amyloidosis (disorder) [SNOMED CT concept]
- Familial Primary Localized Cutaneous Amyloidosis-1 [NCIt concept]
- Familial lichen amyloidosis (disorder) [SNOMED CT concept]
- amyloidosis IX [MeSH Supplementary Concept]
- amyloidosis IX [MeSH concept]
- dominant primary localized cutaneous amyloidosis [SNOMED Notion]

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