MYH3 gene related symptoms and diseases
All the information presented here about the MYH3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MYH3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Very Common - Between 80% and 100% cases |
| Talipes equinovarus | Very Common - Between 80% and 100% cases |
| Scoliosis | Very Common - Between 80% and 100% cases |
| Camptodactyly | Common - Between 50% and 80% cases |
| Distal arthrogryposis | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with MYH3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Short neck
- Flexion contracture
- Hearing impairment
- Narrow mouth
- Arthrogryposis multiplex congenita
- Ptosis
- Wide nasal bridge
- Adducted thumb
And 196 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MYH3 gene
Here you will find a list of rare diseases related to the MYH3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FREEMAN-SHELDON SYNDROME
Alternate names
FREEMAN-SHELDON SYNDROME Is also known as craniocarpotarsal dystrophy, craniocarpotarsal dysplasia, distal arthrogryposis type 2a, whistling face syndrome
Description
Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.
Most common symptoms of FREEMAN-SHELDON SYNDROME
- Short stature
- Hearing impairment
- Scoliosis
- Growth delay
- Hypertelorism
More info about FREEMAN-SHELDON SYNDROME
SOURCES: ORPHANET
ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A
Alternate names
ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A Is also known as craniocarpotarsal dysplasia, fss, craniocarpotarsal dystrophy, whistling face-windmill vane hand syndrome, freeman-sheldon syndrome
Description
Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (OMIM ).
Most common symptoms of ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A
- Intellectual disability
- Seizures
- Short stature
- Generalized hypotonia
- Hearing impairment
More info about ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A
SOURCES: OMIM
SPONDYLOCARPOTARSAL SYNOSTOSIS
Alternate names
SPONDYLOCARPOTARSAL SYNOSTOSIS Is also known as synspondylism, congenital, synspondylism, vertebral fusion with carpal coalition, scoliosis, congenital, with unilateral unsegmented bar, spondylocarpotarsal syndrome
Description
Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism.
Most common symptoms of SPONDYLOCARPOTARSAL SYNOSTOSIS
- Short stature
- Hearing impairment
- Scoliosis
- Hypertelorism
- Sensorineural hearing impairment
More info about SPONDYLOCARPOTARSAL SYNOSTOSIS
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
SHELDON-HALL SYNDROME
Alternate names
SHELDON-HALL SYNDROME Is also known as arthrogryposis multiplex congenita, distal, type ii, with craniofacial abnormalities, sheldon-hall syndrome, shs, distal arthrogryposis type 2b, fssv, arthrogryposis multiplex congenita, distal, type 2b, freeman-sheldon syndrome variant
Description
Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.
Most common symptoms of SHELDON-HALL SYNDROME
- Short stature
- Hearing impairment
- Scoliosis
- Hypertelorism
- Micrognathia
More info about SHELDON-HALL SYNDROME
ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5
Alternate names
ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5 Is also known as daiib, arthrogryposis, distal, type iib, arthrogryposis with oculomotor limitation and electroretinal abnormalities, oculomelic amyoplasia
Description
Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009).There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; {114300}) and Marden-Walker syndrome (MWKS ), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition.For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (OMIM ).
Most common symptoms of ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5
- Intellectual disability
- Short stature
- Hearing impairment
- Scoliosis
- Micrognathia
More info about ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5
SOURCES: OMIM
AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME
Alternate names
AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME Is also known as distal arthrogryposis type 8, multiple pterygium syndrome, autosomal dominant, pterygium syndrome, multiple, autosomal dominant
Description
Autosomal dominant multiple pterygium syndrome is a rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.
Most common symptoms of AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME
- Short stature
- Scoliosis
- Cleft palate
- Ptosis
- Flexion contracture
More info about AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME
Search interest in MYH3
Potential gene panels for MYH3 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 United States.
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 United States.
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 United States.
Freeman-Sheldon Syndrome (MYH3) Sequencing Exon 17 Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the MYH3 gene.
More info about this panel United States.
MYH3. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MYH3 gene.
More info about this panel Spain.
MYH3. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MYH3 gene.
More info about this panel Spain.
Freeman-Sheldon syndrome (sequence analysis of MYH3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the MYH3 gene.
More info about this panel Portugal.
Arthrogryposis, distal type 2B (sequence analysis of MYH3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the MYH3 gene.
More info about this panel Portugal.
Arthrogryposis distal type 2B (sequence analysis of exons 17 and 21 of MYH3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the MYH3 gene.
More info about this panel Portugal.
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 United States.
MYH3-Related Distal Arthrogryposis via MYH3 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the MYH3 gene.
More info about this panel United States.
Comprehensive Neuromuscular Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Neuromuscular Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 SQSTM1 STIM1
More info about this panel United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
Distal Arthrogryposis Syndrome Panel Panel
United States.
By FirmaLab Distal Arthrogryposis Syndrome Panel that also includes the following genes: TNNI2 TNNT3 TPM2 MYH3
More info about this panel United States.
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 Germany.
Arthrogryposis, distal type 2A Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MYH3 gene.
More info about this panel Germany.
Arthrogryposis, distal type 2B Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MYH3 gene.
More info about this panel Germany.
Arthrogryposis type 2A Panel
Italy.
By Medical Genetics Laboratory Bambino Gesù Children's Hospital
This panel specifically test the MYH3 gene.
More info about this panel Italy.
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 Germany.
Single gene testing MYH3 Panel
Germany.
By CeGaT GmbH
This panel specifically test the MYH3 gene.
More info about this panel Germany.
Arthrogryposis, distal 2A Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the MYH3 gene.
More info about this panel Austria.
Arthrogryposis, distal 2B Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the MYH3 gene.
More info about this panel Austria.
Arthrogryposis, distal 2A Panel
Slovakia.
By MedGene
This panel specifically test the MYH3 gene.
More info about this panel Slovakia.
Arthrogryposis, distal 2B Panel
Slovakia.
By MedGene
This panel specifically test the MYH3 gene.
More info about this panel Slovakia.
Arthrogryposis type 2, Distal: MYH3 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the MYH3 gene.
More info about this panel Spain.
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 Spain.
Distal Arthrogryposis Syndromes NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Distal Arthrogryposis Syndromes NGS Panel that also includes the following genes: TNNI2 TNNT3 TPM2 MYH3
More info about this panel United States.
MYH3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MYH3 gene.
More info about this panel United States.
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 Finland.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
Metabolic Myopathy and Rhabdomyolysis Panel Panel
Finland.
By Blueprint Genetics Metabolic Myopathy and Rhabdomyolysis Panel that also includes the following genes: RYR1 SCN4A SLC22A5 SUCLA2 TWNK TK2 LPIN1 SLC25A20 CAV3 RBCK1
More info about this panel Finland.
Freeman Sheldon Syndrome Panel
Spain.
By Bioarray
This panel specifically test the MYH3 gene.
More info about this panel Spain.
Distal arthrogryposis type 2A Panel
Spain.
By Bioarray
This panel specifically test the MYH3 gene.
More info about this panel Spain.
Distal Arthrogryposis type 2B Panel
Spain.
By Bioarray
This panel specifically test the MYH3 gene.
More info about this panel Spain.
Hereditary Cancer Comprehensive Panel Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Hereditary Cancer Comprehensive Panel that also includes the following genes: RUNX1 SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TERC
More info about this panel United States.
ARTHROGRYPOSIS, DISTAL, TYPE 2B (SHELDON-HALL SYNDROME) Panel
Spain.
By Laboratorio de Genetica Clinica SL ARTHROGRYPOSIS, DISTAL, TYPE 2B (SHELDON-HALL SYNDROME) that also includes the following genes: TNNI2 TNNT3 TPM2 MYH3
More info about this panel Spain.
ARTHROGRYPOSIS, DISTAL, TYPE 2A (FREEMAN-SHELDON SYNDROME) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the MYH3 gene.
More info about this panel Spain.
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 Spain.
Distal Arthrogryposis Type 2B , Sequencing MYH3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the MYH3 gene.
More info about this panel Spain.
Distal Arthrogryposis Type 2A , Sequencing MYH3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the MYH3 gene.
More info about this panel Spain.
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 Spain.
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