TRIP4 gene related symptoms and diseases

All the information presented here about the TRIP4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TRIP4 gene

Symptoms // Phenotype % Cases
Increased variability in muscle fiber diameter Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with TRIP4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Severe muscular hypotonia
  • Congenital contracture
  • Respiratory failure
  • Not very common - Between 30% and 50% cases

  • Global developmental delay
  • Limb muscle weakness
  • Muscular dystrophy
  • Joint laxity
  • Hyperkeratosis

And 59 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TRIP4 gene

Here you will find a list of rare diseases related to the TRIP4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1

Description

Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first months or years of life (summary by Knierim et al., 2016). Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone FracturesSee also SMABF2 (OMIM ), caused by mutation in the ASCC1 gene (OMIM ) on chromosome 10q22.

Most common symptoms of SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Muscle weakness
  • Flexion contracture


More info about SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1

SOURCES: OMIM

CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME

Alternate names

CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME Is also known as congenital muscular dystrophy, davignon-chauveau type

Most common symptoms of CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Cryptorchidism
  • Flexion contracture


More info about CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME

SOURCES: ORPHANET OMIM

PRENATAL-ONSET SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES

Alternate names

PRENATAL-ONSET SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES Is also known as smabf


More info about PRENATAL-ONSET SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES

SOURCES: ORPHANET


Potential gene panels for TRIP4 gene

TRIP4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TRIP4 gene.

More info about this panel
United States.

SPINAL MUSCULAR ATROPHY WITH FRACTURES, PRENATAL (SMABF) Panel

Spain.

By Laboratorio de Genetica Clinica SL SPINAL MUSCULAR ATROPHY WITH FRACTURES, PRENATAL (SMABF) that also includes the following genes: TRIP4 ASCC1

More info about this panel
Spain.

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