MYH8 gene related symptoms and diseases
All the information presented here about the MYH8 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 MYH8 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Very Common - Between 80% and 100% cases |
| Trismus | Very Common - Between 80% and 100% cases |
| Talipes equinovarus | Very Common - Between 80% and 100% cases |
| Distal arthrogryposis | Very Common - Between 80% and 100% cases |
| Hammertoe | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with MYH8 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Metatarsus adductus
- Mild short stature
- Short finger
- Abnormality of the musculature
- Symphalangism affecting the phalanges of the hand
- Cutaneous syndactyly
- Cutaneous syndactyly of toes
- Calcaneovalgus deformity
And 23 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MYH8 gene
Here you will find a list of rare diseases related to the MYH8. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME
Alternate names
TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME Is also known as distal arthrogryposis type 7, hecht-beals syndrome, mouth, inability to open completely, and short finger-flexor tendons, trismus-pseudocamptodactyly syndrome, hecht syndrome, dutch-kentucky syndrome
Most common symptoms of TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME
- Short stature
- Micrognathia
- Abnormal facial shape
- Ptosis
- Feeding difficulties
More info about TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME
CARNEY COMPLEX-TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME
Alternate names
CARNEY COMPLEX-TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME Is also known as carney complex variant
Description
Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).
Most common symptoms of CARNEY COMPLEX-TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME
- Short stature
- Talipes equinovarus
- Narrow mouth
- Camptodactyly of finger
- Freckling
More info about CARNEY COMPLEX-TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME
Search interest in MYH8
Potential gene panels for MYH8 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.
Test for Trismus-pseudocamptodactyly syndrome Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the MYH8 gene.
More info about this panel Netherlands.
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.
MYH8. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MYH8 gene.
More info about this panel Spain.
Carney complex (sequence analysis of MYH8 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the MYH8 gene.
More info about this panel Portugal.
Arthrogryposis distal type 7 (sequence analysis of MYH8 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the MYH8 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 Type 7 (Trismus-Pseudocamptodactyly Syndrome) via MYH8 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the MYH8 gene.
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.
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 7 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MYH8 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 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.
MYH8 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MYH8 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 7 Panel
Spain.
By Bioarray
This panel specifically test the MYH8 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 7 (TRISMUS-PSEUDOCAMPTODACTYLY) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the MYH8 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 7, Sequencing MYH8 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the MYH8 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.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like KIF3A FUCA1 KLLN TRHR HNRNPU MPC1 ASXL3