ITGA7 gene related symptoms and diseases

All the information presented here about the ITGA7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ITGA7 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Motor delay Very Common - Between 80% and 100% cases
Congenital hip dislocation Very Common - Between 80% and 100% cases
Waddling gait Very Common - Between 80% and 100% cases
Myopathy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ITGA7 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Respiratory insufficiency due to muscle weakness
  • Not very common - Between 30% and 50% cases

  • Ptosis
  • Muscle weakness
  • Mildly elevated creatine phosphokinase
  • Weak cry
  • Hip contracture
  • Ankle contracture
  • Reduced vital capacity

And 45 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ITGA7 gene

Here you will find a list of rare diseases related to the ITGA7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY


Alternate names

CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY Is also known as cftdm

Description

Congenital fiber type disproportion myopathy (CFTDM) is a rare type of myopathy characterized by hypotonia and mild to severe generalized muscle weakness present at birth or within the first year of life.

Most common symptoms of CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Muscular hypotonia


More info about CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY

SOURCES: ORPHANET

CONGENITAL MUSCULAR DYSTROPHY WITH INTEGRIN ALPHA-7 DEFICIENCY


Alternate names

CONGENITAL MUSCULAR DYSTROPHY WITH INTEGRIN ALPHA-7 DEFICIENCY Is also known as congenital muscular dystrophy with itga7 deficiency, myopathy, congenital, due to integrin alpha-7 deficiency

Description

Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.

Most common symptoms of CONGENITAL MUSCULAR DYSTROPHY WITH INTEGRIN ALPHA-7 DEFICIENCY

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Cognitive impairment


More info about CONGENITAL MUSCULAR DYSTROPHY WITH INTEGRIN ALPHA-7 DEFICIENCY

SOURCES: ORPHANET OMIM MESH


Potential gene panels for ITGA7 gene

Congenital Muscular Dystrophy Advanced Sequencing Evaluation Panel

United States.

By Athena Diagnostics Inc Congenital Muscular Dystrophy Advanced Sequencing Evaluation that also includes the following genes: TCAP RXYLT1 B4GAT1 SELENON FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2

More info about this panel

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

Comprehensive Neuromuscular Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Neuromuscular Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP

More info about this panel

Congenital Muscular Dystrophy Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Congenital Muscular Dystrophy that also includes the following genes: RYR1 TCAP SELENON FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2 COL6A3

More info about this panel

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

Congenital Muscular Dystrophy Deletion/Duplication Analysis Panel

United States.

By Genetic Services Laboratory University of Chicago Congenital Muscular Dystrophy Deletion/Duplication Analysis that also includes the following genes: RYR1 RXYLT1 SELENON SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2

More info about this panel

Congenital Muscular Dystrophy Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Congenital Muscular Dystrophy Sequencing Panel that also includes the following genes: RYR1 RXYLT1 SELENON SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2

More info about this panel

Muscular dystrophy, congenital, due to ITGA7 deficiency (sequence analysis of ITGA7 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ITGA7 gene.

More info about this panel

Congenital muscular dystrophies (NGS panel for 31 genes) Panel

Portugal.

By CGC Genetics Congenital muscular dystrophies (NGS panel for 31 genes) that also includes the following genes: TCAP TTN SELENON SYNE2 SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1

More info about this panel

Congenital Muscular Dystrophy Sequencing Panel Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Muscular Dystrophy Sequencing Panel that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 CHKB POMT2 COL12A1 COL6A1 COL6A2 COL6A3

More info about this panel

Integrin Alpha 7-Related Congenital Myopathy via ITGA7 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ITGA7 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

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

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

Myopathy due to Integrin 7A deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ITGA7 gene.

More info about this panel

Muscular Dystrophies Panel Panel

Germany.

By CeGaT GmbH Muscular Dystrophies Panel that also includes the following genes: TCAP TTN SELENON SYNE2 SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1

More info about this panel

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

Invitae Comprehensive Muscular Dystrophy Panel Panel

United States.

By Invitae Invitae Comprehensive Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN RXYLT1 CAPN3 DNAJB6

More info about this panel

Invitae Congenital Muscular Dystrophy Panel Panel

United States.

By Invitae Invitae Congenital Muscular Dystrophy Panel that also includes the following genes: TCAP RXYLT1 B4GAT1 FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2 COL6A3

More info about this panel

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

DYSTROPHIES, CONGENITAL MUSCULAR Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DYSTROPHIES, CONGENITAL MUSCULAR that also includes the following genes: SELENON FKRP POMGNT1 POMT2 COL6A1 COL6A2 COL6A3 FKTN ITGA7 LAMA2

More info about this panel

Congenital Muscular Dystrophy with Integrin Alpha 7 Deficiency: ITGA7 Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the ITGA7 gene.

More info about this panel

Congenital Muscular Dystrophy with Integrin Alpha 7 Deficiency: ITGA7 Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the ITGA7 gene.

More info about this panel

Congenital Muscular Dystrophy: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Muscular Dystrophy: Deletion/Duplication Panel that also includes the following genes: RYR1 TCAP RXYLT1 SELENON FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2

More info about this panel

Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel that also includes the following genes: RYR1 RYR2 SGCA SGCB SGCD SGCE SGCG TCAP TNNI2 TNNT1

More info about this panel

Expanded Neuromuscular Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Sequencing Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP

More info about this panel

Congenital Muscular Dystrophy: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Muscular Dystrophy: Sequencing Panel that also includes the following genes: RYR1 TCAP RXYLT1 SELENON FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2

More info about this panel

Expanded Neuromuscular Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Deletion/Duplication Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

Neuromuscular NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Neuromuscular NGS Panel that also includes the following genes: RYR1 RYR2 SGCA SGCB SGCD SGCE SGCG TCAP TNNI2 TNNT1

More info about this panel

ITGA7 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ITGA7 gene.

More info about this panel

LGMD and Congenital Muscular Dystrophy Panel Panel

Finland.

By Blueprint Genetics LGMD and Congenital Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3

More info about this panel

Comprehensive Muscular Dystrophy / Myopathy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TNNT1 TPM2 TPM3 MYOT TTN

More info about this panel

Congenital Muscular Dystrophies, Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Muscular Dystrophies, Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: SELENON FKRP POMGNT1 POMT2 COL6A1 COL6A2 COL6A3 FKTN ITGA7 LAMA2

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


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