ORAI1 gene related symptoms and diseases
All the information presented here about the ORAI1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ORAI1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Myopathy | Very Common - Between 80% and 100% cases |
| Muscle weakness | Very Common - Between 80% and 100% cases |
| Hypocalcemia | Very Common - Between 80% and 100% cases |
| Elevated serum creatine phosphokinase | Common - Between 50% and 80% cases |
| Proximal muscle weakness | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with ORAI1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Gowers sign
- Thrombocytopenia
- Myalgia
- Miosis
Not very common - Between 30% and 50% cases
- Failure to thrive
- Abnormal facial shape
- Short stature
- Muscular hypotonia
And 87 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ORAI1 gene
Here you will find a list of rare diseases related to the ORAI1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
STORMORKEN-SJAASTAD-LANGSLET SYNDROME
Alternate names
STORMORKEN-SJAASTAD-LANGSLET SYNDROME Is also known as thrombocytopathy-asplenia-miosis syndrome, york platelet syndrome, thrombocytopathy, asplenia, and miosis, yps, stormorken syndrome
Description
Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.
Most common symptoms of STORMORKEN-SJAASTAD-LANGSLET SYNDROME
- Short stature
- Muscle weakness
- Anemia
- Fatigue
- Myopathy
More info about STORMORKEN-SJAASTAD-LANGSLET SYNDROME
TUBULAR AGGREGATE MYOPATHY
Most common symptoms of TUBULAR AGGREGATE MYOPATHY
- Intellectual disability
- Muscle weakness
- Ptosis
- Flexion contracture
- Visual impairment
More info about TUBULAR AGGREGATE MYOPATHY
COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY
Alternate names
COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY Is also known as cid due to orai1 deficiency, immune dysfunction with t-cell inactivation due to calcium entry defect 1
Description
Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.
Most common symptoms of COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY
- Seizures
- Global developmental delay
- Generalized hypotonia
- Failure to thrive
- Muscle weakness
More info about COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY
Search interest in ORAI1
Potential gene panels for ORAI1 gene
Severe Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Severe Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS) that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E DCLRE1C ADA
More info about this panel United States.
ORAI1 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the ORAI1 gene.
More info about this panel United States.
Severe Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Severe Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E ADA NHEJ1
More info about this panel United States.
ORAI1 Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the ORAI1 gene.
More info about this panel United States.
Neuromuscular Disorders Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Neuromuscular Disorders Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 STIM1 SYT2
More info about this panel United States.
Myopathy with Tubular Aggregates Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Myopathy with Tubular Aggregates Sequencing Panel that also includes the following genes: STIM1 ORAI1
More info about this panel United States.
ORAI1 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the ORAI1 gene.
More info about this panel Germany.
Muscle Weakness (Myopathy, Muscular Dystrophy) Panel
Germany.
By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5
More info about this panel Germany.
Severe combined immunodeficiency (SCID) panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Severe combined immunodeficiency (SCID) panel that also includes the following genes: STAT5B STIM1 TBX1 CD40 CD40LG ZAP70 CD3D CD3E CD3G CD8A
More info about this panel Netherlands.
B-positive SCID panel Panel
Germany.
By Centogene AG - the Rare Disease Company B-positive SCID panel that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E CD247 ORAI1
More info about this panel Germany.
Comprehensive SCID panel Panel
Germany.
By Centogene AG - the Rare Disease Company Comprehensive SCID panel that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E CD247 DCLRE1C
More info about this panel Germany.
Immunodeficiency type 9 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ORAI1 gene.
More info about this panel Germany.
Myopathy, tubular aggregate, type 2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ORAI1 gene.
More info about this panel Germany.
Congenital and Distal Myopathies Panel Panel
Germany.
By CeGaT GmbH Congenital and Distal Myopathies Panel that also includes the following genes: RYR1 BIN1 STIM1 SUCLA2 TWNK TIA1 TK2 TNNT1 TPM2 TPM3
More info about this panel Germany.
Single gene testing ORAI1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the ORAI1 gene.
More info about this panel Germany.
Combined immunodeficiencies Panel Panel
Germany.
By CeGaT GmbH Combined immunodeficiencies Panel that also includes the following genes: RMRP SEMA3E STAT5B STIM1 STK4 TAPBP TBX1 THBD TNFRSF4 CD40
More info about this panel Germany.
Invitae Monogenic Autoimmunity Panel Panel
United States.
By Invitae Invitae Monogenic Autoimmunity Panel that also includes the following genes: RMRP SH2D1A SLC7A7 BTK STAT1 STAT3 STAT5B STIM1 STX11 STXBP2
More info about this panel United States.
Invitae Primary Immunodeficiency Panel Panel
United States.
By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2
More info about this panel United States.
Invitae Syndromic Combined Immunodeficiency (CID) Panel Panel
United States.
By Invitae Invitae Syndromic Combined Immunodeficiency (CID) Panel that also includes the following genes: RMRP SEMA3E SMARCAL1 STAT3 STAT5B STIM1 TBX1 TCN2 TERC TERT
More info about this panel United States.
Severe Combined Immunodeficiency (SCID) B+: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Severe Combined Immunodeficiency (SCID) B+: Sequencing Panel that also includes the following genes: STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E CD247 ORAI1 IL2RG
More info about this panel United States.
Severe Combined Immunodeficiency (SCID) B+/B-: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Severe Combined Immunodeficiency (SCID) B+/B-: Sequencing Panel that also includes the following genes: STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E CD247 DCLRE1C ADA
More info about this panel United States.
ORAI1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ORAI1 gene.
More info about this panel United States.
Primary Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panel Finland.
Severe Combined Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Severe Combined Immunodeficiency Panel that also includes the following genes: RMRP BLM SH2D1A SMARCAL1 STAT1 STAT2 STAT3 STAT5B STIM1 STK4
More info about this panel Finland.
SEVERE COMBINED IMMUNODEFICIENCY (SCID): NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL SEVERE COMBINED IMMUNODEFICIENCY (SCID): NGS PANEL that also includes the following genes: STAT1 STIM1 FOXN1 ZAP70 CARD11 CD3D CD3E CD247 DCLRE1C ADA
More info about this panel Spain.
Combined immunodeficiency due to ORAI1 deficiency Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the ORAI1 gene.
More info about this panel Spain.
Severe Combined Immune Deficiency (SCID) , Panel Massive Sequencing (NGS) 18 Genes Panel
Spain.
By Reference Laboratory Genetics Severe Combined Immune Deficiency (SCID) , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: STAT5B STIM1 FOXN1 ZAP70 CD3D CD3E DCLRE1C ADA NHEJ1 ORAI1
More info about this panel Spain.
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