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
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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). Genetic Heterogeneity of Primary Localized Cutaneous AmyloidosisPrimary localized cutaneous amyloidosis-2 (PLCA2 ) is caused by heterozygous mutation in the IL31RA gene (OMIM ) on chromosome 5q11. Primary localized cutaneous amyloidosis-3 (PLCA3 ) is caused by mutation in the GPNMB gene (OMIM ) on chromosome 7p15.

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


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

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

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

OSMR Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the OSMR gene.

More info about this panel

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

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

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

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


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