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  3. TTN-AS1

TTN-AS1 gene related symptoms and diseases

All the information presented here about the TTN-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to TTN-AS1 gene

Symptoms // Phenotype % Cases
Myopathy Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Muscular dystrophy Common - Between 50% and 80% cases
EMG: myopathic abnormalities Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with TTN-AS1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Not very common - Between 30% and 50% cases

  • Centrally nucleated skeletal muscle fibers
  • Increased variability in muscle fiber diameter
  • Foot dorsiflexor weakness
  • Gait disturbance
  • Dilated cardiomyopathy
  • Calf muscle hypertrophy
  • Transient myeloproliferative syndrome
  • Limb-girdle muscular dystrophy

And 63 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TTN-AS1 gene

Here you will find a list of rare diseases related to the TTN-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2J

Alternate names

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2J Is also known as lgmd2j, muscular dystrophy, limb-girdle, type 2j

Description

Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.

Most common symptoms of AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2J

  • Cardiomyopathy
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Proximal muscle weakness
  • Distal muscle weakness


More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2J

SOURCES: OMIM MESH ORPHANET

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9; CMH9

Most common symptoms of CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9; CMH9

  • Hypertrophic cardiomyopathy
  • Dilated cardiomyopathy


More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9; CMH9

SOURCES: MESH OMIM

TIBIAL MUSCULAR DYSTROPHY

Alternate names

TIBIAL MUSCULAR DYSTROPHY Is also known as distal myopathy, udd type, tardive tibial muscular dystrophy, finnish tibial muscular dystrophy, tmd, udd myopathy, distal titinopathy

Description

Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life.

Most common symptoms of TIBIAL MUSCULAR DYSTROPHY

  • Gait disturbance
  • Cardiomyopathy
  • Myopathy
  • Respiratory failure
  • Difficulty walking


More info about TIBIAL MUSCULAR DYSTROPHY

SOURCES: ORPHANET OMIM

HEREDITARY PROXIMAL MYOPATHY WITH EARLY RESPIRATORY FAILURE

Alternate names

HEREDITARY PROXIMAL MYOPATHY WITH EARLY RESPIRATORY FAILURE Is also known as edstrom myopathy, admerf, hereditary inclusion body myopathy with early respiratory failure, myopathy, proximal, with early respiratory muscle involvement, edstrÖm myopathy, myofibrillar myopathy with early respiratory failure, hmerf, hibm-erf, mprm

Most common symptoms of HEREDITARY PROXIMAL MYOPATHY WITH EARLY RESPIRATORY FAILURE

  • Skeletal muscle atrophy
  • Gait disturbance
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Dyspnea


More info about HEREDITARY PROXIMAL MYOPATHY WITH EARLY RESPIRATORY FAILURE

SOURCES: OMIM MESH ORPHANET

EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY

Alternate names

EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY Is also known as myopathy, early-onset, with fatal cardiomyopathy, salih myopathy, eomfc

Most common symptoms of EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Ptosis


More info about EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY

SOURCES: MESH ORPHANET OMIM



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