NEK9 gene related symptoms and diseases
All the information presented here about the NEK9 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NEK9 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Ventricular septal defect | Common - Between 50% and 80% cases |
| Flexion contracture | Common - Between 50% and 80% cases |
| Seizures | Uncommon - Between 30% and 50% cases |
| Oligohydramnios | Uncommon - Between 30% and 50% cases |
| Aseptic necrosis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with NEK9 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Atopic dermatitis
- Decreased hip abduction
- Micrognathia
- High palate
- Intrauterine growth retardation
- Talipes equinovarus
- Short neck
- Long philtrum
And 53 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NEK9 gene
Here you will find a list of rare diseases related to the NEK9. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NEVUS COMEDONICUS SYNDROME
Description
Nevus comedonicus (NC) is a rare type of epidermal nevus with predilection for the face and neck area. The condition develops within the first decade of life in most patients. NC is characterized by dilated, plugged follicular ostia containing lamellar keratinaceous material and grouped in a honeycomb pattern; the distribution of lesions may be unilateral, bilateral, linear, interrupted, segmental, or along the lines of Blaschko. NC may be nonpyogenic with an acne-like appearance or associated with the formation of cysts, papules, pustules, and abscesses. Histologically, the lesions are large, grouped, dilated follicular ostia devoid of hair shafts but filled with keratin layers (summary by Tchernev et al., 2013).
Most common symptoms of NEVUS COMEDONICUS SYNDROME
- Seizures
- Microcephaly
- Scoliosis
- Cataract
- Alopecia
More info about NEVUS COMEDONICUS SYNDROME
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY; APUG
Most common symptoms of ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY; APUG
- Flexion contracture
- Ventricular septal defect
- Atrial septal defect
- Camptodactyly
- Arthrogryposis multiplex congenita
More info about ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY; APUG
SOURCES: OMIM
NEK9-RELATED LETHAL SKELETAL DYSPLASIA
Alternate names
NEK9-RELATED LETHAL SKELETAL DYSPLASIA Is also known as lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome
Description
NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.
Most common symptoms of NEK9-RELATED LETHAL SKELETAL DYSPLASIA
- Micrognathia
- Flexion contracture
- High palate
- Intrauterine growth retardation
- Ventricular septal defect
More info about NEK9-RELATED LETHAL SKELETAL DYSPLASIA
Search interest in NEK9
Potential gene panels for NEK9 gene
Congenital Contractures Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Contractures Panel that also includes the following genes: SKI SLC18A3 TNNI2 TNNT3 TPM2 TPM3 UBA1 ZMPSTE24 ACTA1 ADGRG6
More info about this panel United States.
Congenital contracture syndrome extended NGS panel Panel
United States.
By Connective Tissue Gene Tests Congenital contracture syndrome extended NGS panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1
More info about this panel United States.
Congenital contracture syndrome extended Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Congenital contracture syndrome extended Comprehensive panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1
More info about this panel United States.
Congenital contracture syndrome extended Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Congenital contracture syndrome extended Deletion / Duplication panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1
More info about this panel United States.
Lethal congenital contracture syndrome and related disorders Comprehensive Panel Panel
United States.
By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders Comprehensive Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6
More info about this panel United States.
Lethal congenital contracture syndrome and related disorders NGS Panel Panel
United States.
By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders NGS Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6
More info about this panel United States.
Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel Panel
United States.
By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6
More info about this panel United States.
NEK9 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NEK9 gene.
More info about this panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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