TNNT3 gene related symptoms and diseases
All the information presented here about the TNNT3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TNNT3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Flexion contracture | Very Common - Between 80% and 100% cases |
| Adducted thumb | Very Common - Between 80% and 100% cases |
| Talipes equinovarus | Very Common - Between 80% and 100% cases |
| Overlapping fingers | Very Common - Between 80% and 100% cases |
| Distal arthrogryposis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TNNT3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormality of the hip bone
- Ulnar deviation of finger
- Joint stiffness
- Arthrogryposis multiplex congenita
- Camptodactyly
- Narrow mouth
- Round ear
- Narrow face
And 103 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TNNT3 gene
Here you will find a list of rare diseases related to the TNNT3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
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
Search interest in TNNT3
Potential gene panels for TNNT3 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.
Arthrogryposis, distal type 2B (sequence analysis of TNNT3MYH3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the TNNT3 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.
Distal Arthrogryposis 2B (Sheldon-Hall Syndrome) via TNNT3 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the TNNT3 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 2B Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the TNNT3 gene.
More info about this panel Germany.
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.
Arthrogryposis, distal 2B Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the TNNT3 gene.
More info about this panel Austria.
Arthrogryposis, distal 2B Panel
Slovakia.
By MedGene
This panel specifically test the TNNT3 gene.
More info about this panel Slovakia.
Arthrogryposis type 1 and type 2b, Distal: TPM2 gene (p.R91G), TNNI2 gene(166del, 175del, R156X, R174Q) and TNNT3 gene (p.R63H) mutation analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Arthrogryposis type 1 and type 2b, Distal: TPM2 gene (p.R91G), TNNI2 gene(166del, 175del, R156X, R174Q) and TNNT3 gene (p.R63H) mutation analysis that also includes the following genes: TNNI2 TNNT3 TPM2
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.
TNNT3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TNNT3 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.
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 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, 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.
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel
Spain.
By Reference Laboratory Genetics Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel Spain.
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