CCDC78 gene related symptoms and diseases
All the information presented here about the CCDC78 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CCDC78 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Generalized hypotonia | Very Common - Between 80% and 100% cases |
| Muscle weakness | Very Common - Between 80% and 100% cases |
| Cognitive impairment | Very Common - Between 80% and 100% cases |
| Fatigue | Very Common - Between 80% and 100% cases |
| Myopathy | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CCDC78 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Neonatal hypotonia
- Myalgia
- Falls
- Centrally nucleated skeletal muscle fibers
Rare diseases associated to CCDC78 gene
Here you will find a list of rare diseases related to the CCDC78. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CONGENITAL MYOPATHY WITH INTERNAL NUCLEI AND ATYPICAL CORES
Alternate names
CONGENITAL MYOPATHY WITH INTERNAL NUCLEI AND ATYPICAL CORES Is also known as cnm4, centronuclear myopathy type 4
Description
Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.
Most common symptoms of CONGENITAL MYOPATHY WITH INTERNAL NUCLEI AND ATYPICAL CORES
- Generalized hypotonia
- Muscle weakness
- Cognitive impairment
- Fatigue
- Myopathy
More info about CONGENITAL MYOPATHY WITH INTERNAL NUCLEI AND ATYPICAL CORES
Search interest in CCDC78
Potential gene panels for CCDC78 gene
Congenital Myopathy Advanced Sequencing Evaluation Panel
United States.
By Athena Diagnostics Inc Congenital Myopathy Advanced Sequencing Evaluation that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON TRIM32
More info about this panel United States.
Muscular Dystrophy Advanced Evaluation Panel
United States.
By Athena Diagnostics Inc Muscular Dystrophy Advanced Evaluation that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CCDC78 CAPN3 DNAJB6
More info about this panel United States.
Neuromuscular Disorders Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2
More info about this panel United States.
Neuromuscular Disorders Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Neuromuscular Disorders Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 STIM1 SYT2
More info about this panel United States.
Congenital Myopathy Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Myopathy Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON
More info about this panel United States.
Congenital Myopathy Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Myopathy Deletion/Duplication Panel that also includes the following genes: RYR1 BIN1 SCN4A TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON
More info about this panel United States.
Centronuclear Myopathy Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Centronuclear Myopathy Sequencing Panel that also includes the following genes: RYR1 BIN1 CCDC78 SPEG DNM2 MTM1 MYF6
More info about this panel United States.
Myopathy, centronuclear 4 (sequence analysis of CCDC78 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CCDC78 gene.
More info about this panel Portugal.
Congenital myopathy (NGS panel of 19 genes) Panel
Portugal.
By CGC Genetics Congenital myopathy (NGS panel of 19 genes) that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 ACTA1 CCDC78 SELENON CFL2 CNTN1 MAMLD1
More info about this panel Portugal.
Congenital myopathy (NGS panel of 19 genes) Panel
Portugal.
By CGC Genetics Congenital myopathy (NGS panel of 19 genes) that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 ACTA1 CCDC78 SELENON CFL2 CNTN1 MAMLD1
More info about this panel Portugal.
Congenital Myopathy Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Myopathy Sequencing Panel that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 MICU1 SELENON
More info about this panel United States.
Centronuclear Myopathy-4, Autosomal Dominant (CNM4) via CCDC78 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the CCDC78 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.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
CCDC78 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the CCDC78 gene.
More info about this panel Germany.
Histological Structural Myopathy (Nemaline / Core / Centronuclear), Congenital Myopathy Panel
Germany.
By MGZ Medical Genetics Center Histological Structural Myopathy (Nemaline / Core / Centronuclear), Congenital Myopathy that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 ACTA1 CCDC78 SELENON CFL2 MTMR14
More info about this panel Germany.
Muscle Disease with CNS Involvement Panel
Germany.
By MGZ Medical Genetics Center Muscle Disease with CNS Involvement that also includes the following genes: SNAP25 TTN RXYLT1 CCDC78 MICU1 B4GAT1 SYNE1 FKRP POMGNT1 CHKB
More info about this panel Germany.
Newborn: “Floppy Infant “ Panel
Germany.
By MGZ Medical Genetics Center Newborn: “Floppy Infant “ that also includes the following genes: RYR1 BIN1 SCN4A TCAP TNNT1 TPM2 TPM3 TTN UBA1 ACTA1
More info about this panel Germany.
Muscle Disease with Distal Myopathy Panel
Germany.
By MGZ Medical Genetics Center Muscle Disease with Distal Myopathy that also includes the following genes: TCAP TIA1 MYOT TTN VCP CCDC78 CAPN3 CAV3 LDB3 BICD2
More info about this panel Germany.
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 Germany.
Centronuclear myopathy type 4 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CCDC78 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Congenital and Distal Myopathies Panel Panel
Germany.
By CeGaT GmbH Congenital and Distal Myopathies Panel that also includes the following genes: RYR1 BIN1 STIM1 SUCLA2 TWNK TIA1 TK2 TNNT1 TPM2 TPM3
More info about this panel Germany.
Congenital Myopathy and Distal Myopathy NGS panel Panel
Estonia.
By Asper Biogene Asper Biogene LLC Congenital Myopathy and Distal Myopathy NGS panel that also includes the following genes: RYR1 SQSTM1 TIA1 TNNT1 TPM2 TPM3 MYOT TTN VCP ACTA1
More info about this panel Estonia.
Invitae Comprehensive Neuromuscular Disorders Panel Panel
United States.
By Invitae Invitae Comprehensive Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SMN1 SMN2 SQSTM1
More info about this panel United States.
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel Panel
United States.
By Invitae Invitae Cardiomyopathy and Skeletal Muscle Disease Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN5A SGCA SGCB SGCD SGCG SLC22A5 SQSTM1
More info about this panel United States.
Invitae Congenital Myopathy Panel Panel
United States.
By Invitae Invitae Congenital Myopathy Panel that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON KLHL41
More info about this panel United States.
Invitae Centronuclear Myopathy Panel Panel
United States.
By Invitae Invitae Centronuclear Myopathy Panel that also includes the following genes: RYR1 BIN1 TTN CCDC78 DNM2 MTM1
More info about this panel United States.
Invitae Comprehensive Myopathy Panel Panel
United States.
By Invitae Invitae Comprehensive Myopathy Panel that also includes the following genes: RYR1 BIN1 SCN4A SQSTM1 STIM1 TIA1 TNNT1 TPM2 TPM3 MYOT
More info about this panel United States.
CCDC78 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CCDC78 gene.
More info about this panel United States.
Centronuclear Myopathy Type 4 , Sequencing CCDC78 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CCDC78 gene.
More info about this panel Spain.
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