IFT52 gene related symptoms and diseases
All the information presented here about the IFT52 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to IFT52 gene
Symptoms // Phenotype | % Cases |
---|---|
Full cheeks | Common - Between 50% and 80% cases |
Dolichocephaly | Common - Between 50% and 80% cases |
High forehead | Common - Between 50% and 80% cases |
Short ribs | Common - Between 50% and 80% cases |
Telecanthus | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with IFT52 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Short thorax
- Brachydactyly
- Wide nasal bridge
- Limb undergrowth
- Narrow chest
- Short distal phalanx of finger
- Protuberant abdomen
- Widely spaced teeth
And 148 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to IFT52 gene
Here you will find a list of rare diseases related to the IFT52. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GASTROINTESTINAL STROMAL TUMOR
Alternate names
GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma, gist
Description
Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.
Most common symptoms of GASTROINTESTINAL STROMAL TUMOR
- Neoplasm
- Pain
- Anemia
- Fever
- Fatigue
More info about GASTROINTESTINAL STROMAL TUMOR
CRANIOECTODERMAL DYSPLASIA
Alternate names
CRANIOECTODERMAL DYSPLASIA Is also known as levin syndrome i, sensenbrenner syndrome, ced
Description
Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).
Most common symptoms of CRANIOECTODERMAL DYSPLASIA
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Growth delay
- Nystagmus
More info about CRANIOECTODERMAL DYSPLASIA
SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY; SRTD16
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 16 WITH OR WITHOUT POLYDACTYLY; SRTD16
- Short stature
- Low-set ears
- Motor delay
- Depressed nasal bridge
- Brachydactyly
More info about SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY; SRTD16
SOURCES: OMIM
Search interest in IFT52
Potential gene panels for IFT52 gene
Skeletal dysplasia ciliopathy Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Skeletal dysplasia ciliopathy Deletion / Duplication panel that also includes the following genes: CFAP410 IFT122 IFT52 WDR19 EVC2 KIAA0586 WDR60 DYNC2LI1 TTC21B CEP120
More info about this panelSkeletal dysplasia ciliopathy NGS panel Panel
By Connective Tissue Gene Tests Skeletal dysplasia ciliopathy NGS panel that also includes the following genes: CFAP410 IFT122 IFT52 WDR19 EVC2 KIAA0586 WDR60 DYNC2LI1 TTC21B CEP120
More info about this panelSkeletal dysplasia ciliopathy Comprehensive panel Panel
By Connective Tissue Gene Tests Skeletal dysplasia ciliopathy Comprehensive panel that also includes the following genes: CFAP410 IFT122 IFT52 WDR19 EVC2 KIAA0586 WDR60 DYNC2LI1 TTC21B CEP120
More info about this panelSkeletal dysplasia and skeletal ciliopathy Comprehensive panel Panel
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 panelSkeletal dysplasia and skeletal ciliopathy NGS panel Panel
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 panelSkeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel Panel
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 panelHereditary kidney disorders - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panelSkeletal Ciliopathies Panel
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 panelIFT52 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the IFT52 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ENPEP PRRT2 HSD3B1 EPHX1 VWA3B PRKG1 ANXA11