MYBPC1 gene related symptoms and diseases

All the information presented here about the MYBPC1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MYBPC1 gene

Symptoms // Phenotype % Cases
Flexion contracture Uncommon - Between 30% and 50% cases
Arthrogryposis multiplex congenita Uncommon - Between 30% and 50% cases
Distal arthrogryposis Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Camptodactyly of finger Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with MYBPC1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Limb joint contracture
  • Overlapping fingers
  • Ulnar deviation of finger
  • Abnormality of the hip bone
  • Rocker bottom foot
  • Adducted thumb
  • Joint contracture of the hand
  • Talipes

And 12 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MYBPC1 gene

Here you will find a list of rare diseases related to the MYBPC1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3


Alternate names

LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3 Is also known as lccs3, multiple contracture syndrome, israeli bedouin type b

Description

Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.

Most common symptoms of LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3

  • Flexion contracture
  • Skeletal muscle atrophy
  • Respiratory insufficiency
  • Edema
  • Arthrogryposis multiplex congenita


More info about LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3

SOURCES: OMIM MESH ORPHANET

LETHAL CONGENITAL CONTRACTURE SYNDROME 4; LCCS4


Most common symptoms of LETHAL CONGENITAL CONTRACTURE SYNDROME 4; LCCS4

  • Skeletal muscle atrophy
  • Distal arthrogryposis


More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 4; LCCS4

SOURCES: OMIM

DIGITOTALAR DYSMORPHISM


Alternate names

DIGITOTALAR DYSMORPHISM Is also known as ulnar drift, hereditary, da1, distal arthrogryposis type 1, da1a

Description

Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term).

Most common symptoms of DIGITOTALAR DYSMORPHISM

  • Flexion contracture
  • Talipes equinovarus
  • Narrow mouth
  • Camptodactyly
  • Joint stiffness


More info about DIGITOTALAR DYSMORPHISM

SOURCES: ORPHANET OMIM

MYBPC1-RELATED AUTOSOMAL RECESSIVE NON-LETHAL ARTHROGRYPOSIS MULTIPLEX CONGENITA SYNDROME


Alternate names

MYBPC1-RELATED AUTOSOMAL RECESSIVE NON-LETHAL ARTHROGRYPOSIS MULTIPLEX CONGENITA SYNDROME Is also known as mybpc1-related autosomal recessive non-lethal amc syndrome


More info about MYBPC1-RELATED AUTOSOMAL RECESSIVE NON-LETHAL ARTHROGRYPOSIS MULTIPLEX CONGENITA SYNDROME

SOURCES: ORPHANET


Potential gene panels for MYBPC1 gene

Congenital Contractures Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Contractures Panel that also includes the following genes: SKI SLC18A3 TNNI2 TNNT3 TPM2 TPM3 UBA1 ZMPSTE24 ACTA1 ADGRG6

More info about this panel

Distal Arthrogryposis Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Distal Arthrogryposis Deletion/Duplication Panel that also includes the following genes: TNNI2 TNNT3 TPM2 NALCN CHST14 PIEZO2 ECEL1 FBN2 MYBPC1 MYH3

More info about this panel

Distal Arthrogryposis Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Distal Arthrogryposis Sequencing Panel that also includes the following genes: TNNI2 TNNT3 TPM2 NALCN CHST14 PIEZO2 ECEL1 FBN2 MYBPC1 MYH3

More info about this panel

Arthrogryposis, distal type 1B (sequence analysis of MYBPC1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MYBPC1 gene.

More info about this panel

Distal Arthrogryposis Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Distal Arthrogryposis Sequencing Panel with CNV Detection that also includes the following genes: TNNI2 TNNT3 TPM2 NALCN CHST14 PIEZO2 ECEL1 FBN2 MYBPC1 MYH3

More info about this panel

Distal Arthrogryposis 1B via MYBPC1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the MYBPC1 gene.

More info about this panel

Congenital contracture syndrome extended NGS panel Panel

United States.

By Connective Tissue Gene Tests Congenital contracture syndrome extended NGS panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1

More info about this panel

Congenital contracture syndrome extended Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Congenital contracture syndrome extended Comprehensive panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1

More info about this panel

Congenital contracture syndrome extended Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Congenital contracture syndrome extended Deletion / Duplication panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1

More info about this panel

Distal arthrogryposes NGS panel Panel

United States.

By Connective Tissue Gene Tests Distal arthrogryposes NGS panel that also includes the following genes: TNNI2 TNNT3 TPM2 NALCN PIEZO2 ECEL1 FBN2 MYBPC1 MYH3 MYH8

More info about this panel

Distal arthrogryposes Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Distal arthrogryposes Comprehensive panel that also includes the following genes: TNNI2 TNNT3 TPM2 NALCN PIEZO2 ECEL1 FBN2 MYBPC1 MYH3 MYH8

More info about this panel

Distal arthrogryposes Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Distal arthrogryposes Deletion / Duplication panel that also includes the following genes: TNNI2 TNNT3 TPM2 NALCN PIEZO2 ECEL1 FBN2 MYBPC1 MYH3 MYH8

More info about this panel

Lethal congenital contracture syndrome and related disorders Comprehensive Panel Panel

United States.

By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders Comprehensive Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6

More info about this panel

Lethal congenital contracture syndrome and related disorders NGS Panel Panel

United States.

By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders NGS Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6

More info about this panel

Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel Panel

United States.

By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6

More info about this panel

Arthrogryposis multiplex congenita Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Arthrogryposis multiplex congenita that also includes the following genes: TNNI2 TNNT3 TPM2 PIEZO2 MYBPC1 MYH3 MYH8

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Progressive Myoclonic Epilepsy Panel

Germany.

By MGZ Medical Genetics Center Progressive Myoclonic Epilepsy that also includes the following genes: SGCE CACNB4 NPC2 CASR EFHC1 SCARB2 PRICKLE1 PRICKLE2 TPP1 CLN3

More info about this panel

Brain Malformations / Neuronal Migration Disorders Panel

Germany.

By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2

More info about this panel

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

Epilepsy Panel

Germany.

By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel

Lethal congenital contracture syndrome 4 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MYBPC1 gene.

More info about this panel

Arthrogryposis panel Panel

Germany.

By Centogene AG - the Rare Disease Company Arthrogryposis panel that also includes the following genes: TNNI2 TNNT3 TPM2 FBN2 MYBPC1 MYH3 MYH8

More info about this panel

Arthrogryposis, distal type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MYBPC1 gene.

More info about this panel

Congenital Myasthenic Syndromes and Arthrogryposis Panel Panel

Germany.

By CeGaT GmbH Congenital Myasthenic Syndromes and Arthrogryposis Panel that also includes the following genes: SCN4A SNAP25 SYT2 TNNI2 TNNT3 TPM2 ADGRG6 SYNE1 FKBP10 NALCN

More info about this panel

ARTHROGRYPOSIS Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ARTHROGRYPOSIS that also includes the following genes: TNNI2 TNNT3 TPM2 FBN2 MYBPC1 MYH3 MYH8

More info about this panel

MYBPC1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MYBPC1 gene.

More info about this panel

Arthrogryposes Panel Panel

Finland.

By Blueprint Genetics Arthrogryposes Panel that also includes the following genes: BIN1 SCO2 TGFB3 TK2 TNNI2 TNNT1 TNNT3 TPM2 TPM3 VPS33B

More info about this panel

ARTHROGRYPOSIS, DISTAL, TYPE 1 Panel

Spain.

By Laboratorio de Genetica Clinica SL ARTHROGRYPOSIS, DISTAL, TYPE 1 that also includes the following genes: TPM2 MYBPC1

More info about this panel

ARTHROGRYPOSIS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL ARTHROGRYPOSIS NGS PANEL that also includes the following genes: TNNI2 TNNT3 TPM2 UBA1 VPS33B SYNE1 FKBP10 NALCN VIPAS39 ZC4H2

More info about this panel

Lethal congenital contracture syndrome type 4 Panel

Canada.

By LifeLabs Genetics

This panel specifically test the MYBPC1 gene.

More info about this panel

Arthrogryposis, distal, type 1B Panel

Canada.

By LifeLabs Genetics

This panel specifically test the MYBPC1 gene.

More info about this panel

Distal Arthrogryposis Type 1B, Sequencing MYBPC1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the MYBPC1 gene.

More info about this panel

Distal Arthrogryposis, Massive Sequencing (NGS) 9 Genes Panel

Spain.

By Reference Laboratory Genetics Distal Arthrogryposis, Massive Sequencing (NGS) 9 Genes that also includes the following genes: TNNI2 TNNT3 TPM2 SCARF2 PIEZO2 FBN2 MYBPC1 MYH3 MYH8

More info about this panel


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