BCHE gene related symptoms and diseases
All the information presented here about the BCHE 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 BCHE gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Cleft palate | Uncommon - Between 30% and 50% cases |
| Hypothyroidism | Uncommon - Between 30% and 50% cases |
| Polyhydramnios | Uncommon - Between 30% and 50% cases |
| Retrognathia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with BCHE gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Choanal atresia
- Curly hair
- Congenital hypothyroidism
- Abnormal hair quantity
- Bilateral choanal atresia
- Thyroid agenesis
- Bifid epiglottis
- Apnea
And 1 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to BCHE gene
Here you will find a list of rare diseases related to the BCHE. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BAMFORTH-LAZARUS SYNDROME
Alternate names
BAMFORTH-LAZARUS SYNDROME Is also known as bamforth syndrome, athyroidal hypothyroidism-spiky hair-cleft palate syndrome, bamforth-lazarus syndrome, hypothyroidism-cleft palate syndrome
Description
Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.
Most common symptoms of BAMFORTH-LAZARUS SYNDROME
- Intellectual disability
- Cleft palate
- Hypothyroidism
- Polyhydramnios
- Retrognathia
More info about BAMFORTH-LAZARUS SYNDROME
BUTYRYLCHOLINESTERASE DEFICIENCY
Alternate names
BUTYRYLCHOLINESTERASE DEFICIENCY Is also known as pseudocholinesterase deficiency, acholinesterasemia
Description
Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency.
Most common symptoms of BUTYRYLCHOLINESTERASE DEFICIENCY
- Apnea
- Malnutrition
More info about BUTYRYLCHOLINESTERASE DEFICIENCY
Search interest in BCHE
Potential gene panels for BCHE gene
BCHE. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the BCHE gene.
More info about this panel Spain.
Butyrylcholinesterase deficiency (sequence analysis of BCHE gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the BCHE gene.
More info about this panel Portugal.
BCHE Sequence Analysis Panel
Netherlands.
By Translational Metabolic Laboratory Radboud University Medical Centre
This panel specifically test the BCHE gene.
More info about this panel Netherlands.
Butyrylcholinesterase Deficiency via BCHE Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the BCHE gene.
More info about this panel United States.
Butyrylcholinesterase deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the BCHE gene.
More info about this panel Germany.
Butyrylcholinesterase deficiency Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the BCHE gene.
More info about this panel Germany.
Pharmacogenetic panel Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum Pharmacogenetic panel that also includes the following genes: SLC19A1 SLCO1B1 SOD2 TPMT UGT1A1 CCR5 VKORC1 ADH1B CYP2B6 CYP2C19
More info about this panel Germany.
BCHE Panel
Spain.
By Innovagenomics Innovagenomics S.L
This panel specifically test the BCHE gene.
More info about this panel Spain.
Butyrylcholinesterase Deficiency (BCHE) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the BCHE gene.
More info about this panel Germany.
Butyrylcholinesterase Deficiency Panel
Germany.
By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics
This panel specifically test the BCHE gene.
More info about this panel Germany.
Family Prep Screen Panel
United States.
By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5
More info about this panel United States.
BCHE Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the BCHE gene.
More info about this panel United States.
Butyrylcholinesterase deficiency Panel
Spain.
By Bioarray
This panel specifically test the BCHE gene.
More info about this panel Spain.
BUTYRYLCHOLINESTERASE DEFICIENCY Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the BCHE gene.
More info about this panel Spain.
Butyrylcholinesterase Deficiency, Sequencing BCHE Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the BCHE gene.
More info about this panel Spain.
Butyrylcholinesterase deficiency Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the BCHE gene.
More info about this panel Germany.
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