ATRIP gene related symptoms and diseases
All the information presented here about the ATRIP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ATRIP gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Convex nasal ridge | Very Common - Between 80% and 100% cases |
| Abnormality of earlobe | Very Common - Between 80% and 100% cases |
| Mild global developmental delay | Very Common - Between 80% and 100% cases |
| Prematurely aged appearance | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ATRIP gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Cone-shaped epiphysis
- Cachexia
- Reduced number of teeth
- Sandal gap
- Abnormality of dental enamel
- Narrow face
- Sparse scalp hair
- Hip dysplasia
And 13 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ATRIP gene
Here you will find a list of rare diseases related to the ATRIP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SECKEL SYNDROME
Description
Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.
Most common symptoms of SECKEL SYNDROME
- Intellectual disability
- Short stature
- Microcephaly
- Scoliosis
- Micrognathia
More info about SECKEL SYNDROME
SOURCES: ORPHANET
Search interest in ATRIP
Potential gene panels for ATRIP gene
Microcephalic primordial dwarfism Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Microcephalic primordial dwarfism Comprehensive panel that also includes the following genes: XRCC4 NIN PCNT ORC6 CENPJ CDC45 CDC6 GMNN CDT1 CEP63
More info about this panel United States.
Microcephalic primordial dwarfism Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Microcephalic primordial dwarfism Deletion / Duplication panel that also includes the following genes: XRCC4 NIN PCNT ORC6 CENPJ CDC45 CDC6 GMNN CDT1 CEP63
More info about this panel United States.
Microcephalic primordial dwarfism NGS panel Panel
United States.
By Connective Tissue Gene Tests Microcephalic primordial dwarfism NGS panel that also includes the following genes: XRCC4 NIN PCNT ORC6 CENPJ CDC45 CDC6 GMNN CDT1 CEP63
More info about this panel United States.
Seckel Syndrome Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Seckel Syndrome that also includes the following genes: NIN CENPJ CDK5RAP2 CEP152 DNA2 ATRIP ATR RBBP8
More info about this panel Germany.
Seckel syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ATRIP gene.
More info about this panel Germany.
ATRIP Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ATRIP gene.
More info about this panel United States.
SYNDROME DE SECKEL: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL SYNDROME DE SECKEL: NGS PANEL that also includes the following genes: PLK4 NIN PCNT CENPJ CENPE CEP63 CEP152 ATRIP ATR RBBP8
More info about this panel Spain.
SECKEL SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL SECKEL SYNDROME that also includes the following genes: PCNT CENPJ CEP63 CEP152 ATRIP ATR RBBP8
More info about this panel Spain.
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders: gene sequencing panel that also includes the following genes: STIL NIN CENPJ CDK6 CDK5RAP2 ASPM KNL1 WDR62 CEP63 CEP135
More info about this panel Canada.
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