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.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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

SOURCES: ORPHANET OMIM

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

SOURCES: OMIM ORPHANET

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 ). Genetic Heterogeneity of Distal Arthrogryposis 5A subtype of DA5 due to mutation in the ECEL1 gene (OMIM ) on chromosome 2q36 has been designated DA5D (OMIM ). See NOMENCLATURE.

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


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

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 2B (sequence analysis of TNNT3MYH3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TNNT3 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 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

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

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

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

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

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 2B Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TNNT3 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, distal 2B Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the TNNT3 gene.

More info about this panel

Arthrogryposis, distal 2B Panel

Slovakia.

By MedGene

This panel specifically test the TNNT3 gene.

More info about this panel

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

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

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

TNNT3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TNNT3 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 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

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

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

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like BIVM-ERCC5 AICDA TERT LMBR1 ZNF335

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more