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).
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
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
Search interest in TRIP4
Potential gene panels for TRIP4 gene
TRIP4 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TRIP4 gene.
More info about this panelSPINAL MUSCULAR ATROPHY WITH FRACTURES, PRENATAL (SMABF) Panel
By Laboratorio de Genetica Clinica SL SPINAL MUSCULAR ATROPHY WITH FRACTURES, PRENATAL (SMABF) that also includes the following genes: TRIP4 ASCC1
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