OSMR gene related symptoms and diseases
All the information presented here about the OSMR gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to OSMR gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Neoplasm | Uncommon - Between 30% and 50% cases |
| Peripheral neuropathy | Uncommon - Between 30% and 50% cases |
| Papule | Uncommon - Between 30% and 50% cases |
| Pruritus | Uncommon - Between 30% and 50% cases |
| Dry skin | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with OSMR gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Cutis laxa
- Scaling skin
- Amyloidosis
- Abnormal cranial nerve morphology
- Neoplasm of the endocrine system
- Lichenification
- Lattice corneal dystrophy
- Cutaneous amyloidosis
Rare diseases associated to OSMR gene
Here you will find a list of rare diseases related to the OSMR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FAMILIAL PRIMARY LOCALIZED CUTANEOUS AMYLOIDOSIS
Alternate names
FAMILIAL PRIMARY LOCALIZED CUTANEOUS AMYLOIDOSIS Is also known as fplca
More info about FAMILIAL PRIMARY LOCALIZED CUTANEOUS AMYLOIDOSIS
SOURCES: ORPHANET
AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1; PLCA1
Alternate names
AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1; PLCA1 Is also known as amyloidosis ix, amyloidosis, familial cutaneous lichen, pca, lichen amyloidosis, familial, amyloidosis, primary cutaneous, 1, pca1
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).
Most common symptoms of AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1; PLCA1
- Neoplasm
- Peripheral neuropathy
- Papule
- Pruritus
- Dry skin
More info about AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1; PLCA1
SOURCES: OMIM
Search interest in OSMR
Potential gene panels for OSMR gene
Hereditary amyloidosis (NGS panel of 19 genes) Panel
Portugal.
By CGC Genetics Hereditary amyloidosis (NGS panel of 19 genes) that also includes the following genes: TACSTD2 TGFBI TNFRSF1A TTR NLRP3 IL31RA CST3 F10 FGA GSN
More info about this panel Portugal.
Hereditary amyloidosis (NGS panel of 19 genes) Panel
Portugal.
By CGC Genetics Hereditary amyloidosis (NGS panel of 19 genes) that also includes the following genes: TACSTD2 TGFBI TNFRSF1A TTR NLRP3 IL31RA CST3 F10 FGA GSN
More info about this panel Portugal.
Amyloidosis, primary localized cutaneous, type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the OSMR gene.
More info about this panel Germany.
OSMR Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the OSMR gene.
More info about this panel United States.
AMYLOIDOSIS HEREDITARY NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL AMYLOIDOSIS HEREDITARY NGS PANEL that also includes the following genes: TACSTD2 TGFBI TNFRSF1A TTR NLRP3 IL31RA CST3 F10 FGA GSN
More info about this panel Spain.
AMYLOIDOSIS Panel
Spain.
By Laboratorio de Genetica Clinica SL AMYLOIDOSIS that also includes the following genes: TTR IL31RA FGA GSN LYZ OSMR B2M
More info about this panel Spain.
Familial Amyloidosis and Related Disorders , Panel Massive Sequencing (NGS) 8 Genes Panel
Spain.
By Reference Laboratory Genetics Familial Amyloidosis and Related Disorders , Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: TTR IL31RA FGA GSN LYZ OSMR B2M
More info about this panel Spain.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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