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.

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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

SOURCES: OMIM ORPHANET MESH

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

SOURCES: OMIM ORPHANET

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). Genetic Heterogeneity of Systemic Lupus ErythematosusAn autosomal recessive form of systemic lupus erythematosus (SLEB16 ) is caused by mutation in the DNASE1L3 gene (OMIM ) on chromosome 3p14.3.See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.

Most common symptoms of SYSTEMIC LUPUS ERYTHEMATOSUS

  • Seizures
  • Short stature
  • Cognitive impairment
  • Anemia
  • Fatigue


More info about SYSTEMIC LUPUS ERYTHEMATOSUS

SOURCES: OMIM ORPHANET


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

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

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

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

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

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

MODY 11 (sequence analysis of BLK gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the BLK gene.

More info about this panel

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

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

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

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

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

BLK Panel

Slovakia.

By Department of Clinical Genetics St. Elisabeth Cancer Institute

This panel specifically test the BLK gene.

More info about this panel

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

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

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

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

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

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

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

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

MODY 11 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the BLK gene.

More info about this panel

MODY 11 Panel

Slovakia.

By MedGene

This panel specifically test the BLK gene.

More info about this panel

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

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

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

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

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

BLK Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BLK gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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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