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.

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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

SOURCES: ORPHANET MESH OMIM

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

SOURCES: ORPHANET OMIM


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

Butyrylcholinesterase deficiency (sequence analysis of BCHE gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the BCHE gene.

More info about this panel

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

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

Butyrylcholinesterase deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the BCHE gene.

More info about this panel

Butyrylcholinesterase deficiency Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the BCHE gene.

More info about this panel

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

BCHE Panel

Spain.

By Innovagenomics Innovagenomics S.L

This panel specifically test the BCHE gene.

More info about this panel

Butyrylcholinesterase Deficiency (BCHE) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the BCHE gene.

More info about this panel

Butyrylcholinesterase Deficiency Panel

Germany.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics

This panel specifically test the BCHE gene.

More info about this panel

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

BCHE Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BCHE gene.

More info about this panel

Butyrylcholinesterase deficiency Panel

Spain.

By Bioarray

This panel specifically test the BCHE gene.

More info about this panel

BUTYRYLCHOLINESTERASE DEFICIENCY Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the BCHE gene.

More info about this panel

Butyrylcholinesterase Deficiency, Sequencing BCHE Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the BCHE gene.

More info about this panel

Butyrylcholinesterase deficiency Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the BCHE gene.

More info about this panel


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