TCTEX1D2 gene related symptoms and diseases
All the information presented here about the TCTEX1D2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TCTEX1D2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Very Common - Between 80% and 100% cases |
| Brachydactyly | Very Common - Between 80% and 100% cases |
| Respiratory insufficiency | Very Common - Between 80% and 100% cases |
| Polydactyly | Very Common - Between 80% and 100% cases |
| Cleft lip | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TCTEX1D2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Narrow chest
- Oral cleft
- Short ribs
- Thoracic dysplasia
- Lateral clavicle hook
Rare diseases associated to TCTEX1D2 gene
Here you will find a list of rare diseases related to the TCTEX1D2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY; SRTD17
Description
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).
Most common symptoms of SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY; SRTD17
- Short stature
- Brachydactyly
- Respiratory insufficiency
- Polydactyly
- Cleft lip
More info about SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY; SRTD17
SOURCES: OMIM
Search interest in TCTEX1D2
Potential gene panels for TCTEX1D2 gene
Skeletal dysplasia and skeletal ciliopathy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Skeletal Ciliopathies Panel
Estonia.
By Asper Biogene Asper Biogene LLC Skeletal Ciliopathies that also includes the following genes: IFT122 IFT52 WDR19 EVC2 KIAA0586 WDR60 COMP TCTN3 DYNC2LI1 TTC21B
More info about this panel Estonia.
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