BLK gene related symptoms and diseases
All the information presented here about the BLK gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to BLK gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Pericarditis | Uncommon - Between 30% and 50% cases |
| Overweight | Uncommon - Between 30% and 50% cases |
| Maturity-onset diabetes of the young | Uncommon - Between 30% and 50% cases |
| Arthritis | Uncommon - Between 30% and 50% cases |
| Vasculitis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with BLK gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Diabetes mellitus
- Fatigue
- Skin rash
Rarely - Less than 30% cases
- Short stature
- Flushing
- Seizures
- Obesity
- Cognitive impairment
And 104 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to BLK gene
Here you will find a list of rare diseases related to the BLK. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11; MODY11
Most common symptoms of MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11; MODY11
- Obesity
- Diabetes mellitus
- Overweight
- Maturity-onset diabetes of the young
More info about MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11; MODY11
SOURCES: OMIM
KAWASAKI DISEASE
Alternate names
KAWASAKI DISEASE Is also known as kd, infantile polyarteritis, mucocutaneous lymph node syndrome
Description
Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.
Most common symptoms of KAWASAKI DISEASE
- Sensorineural hearing impairment
- Ptosis
- Fever
- Fatigue
- Edema
More info about KAWASAKI DISEASE
MODY
Alternate names
MODY Is also known as maturity-onset diabetes of the young, mason-type diabetes
Description
MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.
Most common symptoms of MODY
- Hypertension
- Diabetes mellitus
- Retinopathy
- Type II diabetes mellitus
- Insulin resistance
More info about MODY
SYSTEMIC LUPUS ERYTHEMATOSUS
Alternate names
SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as disseminated lupus erythematosus, sle
Description
Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008).
Most common symptoms of SYSTEMIC LUPUS ERYTHEMATOSUS
- Seizures
- Short stature
- Cognitive impairment
- Anemia
- Fatigue
More info about SYSTEMIC LUPUS ERYTHEMATOSUS
Search interest in BLK
Potential gene panels for BLK gene
Maturity-Onset Diabetes of the Young Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Maturity-Onset Diabetes of the Young that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 WFS1 NEUROG3 IER3IP1 RFX6 CP
More info about this panel United States.
Maturity-onset Diabetes of the Young Panel Panel
United States.
By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine Maturity-onset Diabetes of the Young Panel that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL AKT2 GCK HNF4A ABCC8 INS
More info about this panel United States.
MODY Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago MODY Deletion/Duplication Panel that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL APPL1 GCK HNF4A ABCC8 INS
More info about this panel United States.
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL
More info about this panel United States.
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL
More info about this panel United States.
MODY Panel Panel
United States.
By Genetic Services Laboratory University of Chicago MODY Panel that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL APPL1 GCK HNF4A ABCC8 INS
More info about this panel United States.
MODY 11 (sequence analysis of BLK gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the BLK gene.
More info about this panel Portugal.
MODY (NGS panel for 13 genes) Panel
Portugal.
By CGC Genetics MODY (NGS panel for 13 genes) that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL GCK HNF4A ABCC8 INS PDX1
More info about this panel Portugal.
Maturity Onset Diabetes of the Young (Types 1 to 10) Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Maturity Onset Diabetes of the Young (Types 1 to 10) that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL GCK HNF4A INS PDX1 NEUROD1
More info about this panel Germany.
Maturity-onset diabetes of the young, type 11 Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the BLK gene.
More info about this panel Germany.
Maturity Onset Diabetes of the Young (MODY) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Maturity Onset Diabetes of the Young (MODY) Sequencing Panel with CNV Detection that also includes the following genes: BLK HNF1A HNF1B KLF11 APPL1 GCK HNF4A ABCC8 INS PDX1
More info about this panel United States.
Maturity Onset Diabetes of the Young (MODY) via BLK Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the BLK gene.
More info about this panel United States.
BLK Panel
Slovakia.
By Department of Clinical Genetics St. Elisabeth Cancer Institute
This panel specifically test the BLK gene.
More info about this panel Slovakia.
Nephrology Endocrinology and Electrolytes - panels Panel
Germany.
By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3
More info about this panel Germany.
MODY panel Panel
Germany.
By Centogene AG - the Rare Disease Company MODY panel that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL ZFP57 RFX6 GCK HNF4A ABCC8
More info about this panel Germany.
Maturity-onset diabetes of the young type 11 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the BLK gene.
More info about this panel Germany.
Maturity onset diabetes mellitus in young Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum Maturity onset diabetes mellitus in young that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL GCK HNF4A INS PDX1 NEUROD1
More info about this panel Germany.
Maturity Onset Diabetes of the Young (MODY) Panel
Estonia.
By Asper Biogene Asper Biogene LLC Maturity Onset Diabetes of the Young (MODY) that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL ZFP57 RFX6 GCK HNF4A ABCC8
More info about this panel Estonia.
Cardiovascular Diseases_General Panel Panel
Spain.
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panel Spain.
Maturity-onsetdiabetes of the youngMODY Panel
Spain.
By Health in Code Maturity-onsetdiabetes of the youngMODY that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 WFS1 NEUROG3 CEL IER3IP1 TBC1D4
More info about this panel Spain.
Dyslipidemias / Early atherosclerosis Panel
Spain.
By Health in Code Dyslipidemias / Early atherosclerosis that also includes the following genes: RYR1 SAR1B BLK SLCO1B1 SLC22A8 SLC2A2 HNF1A HNF1B KLF11 WFS1
More info about this panel Spain.
MODY 11 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the BLK gene.
More info about this panel Austria.
MODY 11 Panel
Slovakia.
By MedGene
This panel specifically test the BLK gene.
More info about this panel Slovakia.
MODY type 11: BLK gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the BLK gene.
More info about this panel Spain.
DIABETES (MODY) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DIABETES (MODY) that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 GCK HNF4A PDX1 KCNJ11 NEUROD1
More info about this panel Spain.
Endocrine Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Sequencing Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24
More info about this panel United States.
Endocrine Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Deletion/Duplication Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24
More info about this panel United States.
MODY Neonatal Diabetes NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics MODY Neonatal Diabetes NGS Panel that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 WFS1 NEUROG3 CEL IER3IP1 ZFP57
More info about this panel United States.
BLK Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the BLK gene.
More info about this panel United States.
MODY Panel Panel
Finland.
By Blueprint Genetics MODY Panel that also includes the following genes: BLK HNF1A HNF1B KLF11 RFX6 GCK HNF4A ABCC8 INS PDX1
More info about this panel Finland.
Comprehensive Monogenic Diabetes Panel Panel
Finland.
By Blueprint Genetics Comprehensive Monogenic Diabetes Panel that also includes the following genes: BLK SLC16A1 SLC2A2 HNF1A HNF1B KLF11 UCP2 WFS1 NEUROG3 ZFP57
More info about this panel Finland.
Maturity-Onset Diabetes of the Young NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Maturity-Onset Diabetes of the Young NGS and Deletion/Duplication Panel that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL GCK HNF4A ABCC8 INS PDX1
More info about this panel United States.
BLK Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the BLK gene.
More info about this panel United States.
Monogenic Diabetes NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Monogenic Diabetes NGS and Deletion/Duplication Panel that also includes the following genes: BLK SLC16A1 SLC2A2 HNF1A HNF1B KLF11 UCP2 WFS1 NEUROG3 CEL
More info about this panel United States.
MATURITY-ONSET DIABETES OF THE YOUNG (MODY) TYPE 11 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the BLK gene.
More info about this panel Spain.
DIABETES MODY & NEONATAL DIABETES : NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL DIABETES MODY & NEONATAL DIABETES : NGS PANEL that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 NEUROG3 IER3IP1 ZFP57 RFX6 PTF1A
More info about this panel Spain.
MODY panel Panel
Canada.
By LifeLabs Genetics MODY panel that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL ZFP57 RFX6 GCK HNF4A ABCC8
More info about this panel Canada.
Diabetes MODY, Panel Massive Sequencing (NGS) 11 Genes Panel
Spain.
By Reference Laboratory Genetics Diabetes MODY, Panel Massive Sequencing (NGS) 11 Genes that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 GCK HNF4A PDX1 KCNJ11 NEUROD1
More info about this panel Spain.
Maturity-onset diabetes of the young, type 11 Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the BLK gene.
More info about this panel Germany.
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.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like KIF3A ZDHHC9 BCORL1 RMND1 CYBA OGDH ZNF148