CCDC141 gene related symptoms and diseases
All the information presented here about the CCDC141 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CCDC141 gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Very Common - Between 80% and 100% cases |
Abnormality of the voice | Very Common - Between 80% and 100% cases |
Decreased testicular size | Very Common - Between 80% and 100% cases |
Hypoplasia of penis | Very Common - Between 80% and 100% cases |
Primary amenorrhea | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CCDC141 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Gynecomastia
- Hypogonadotrophic hypogonadism
- Reduced bone mineral density
- Anosmia
- Reduced number of teeth
- Abnormality of color vision
- Recurrent fractures
- Decreased fertility
And 31 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CCDC141 gene
Here you will find a list of rare diseases related to the CCDC141. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
KALLMANN SYNDROME
Alternate names
KALLMANN SYNDROME Is also known as congenital hypogonadotropic hypogonadism with anosmia, olfacto-genital pathological sequence
Description
Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).
Most common symptoms of KALLMANN SYNDROME
- Seizures
- Ataxia
- Nystagmus
- Sensorineural hearing impairment
- Muscle weakness
More info about KALLMANN SYNDROME
SOURCES: ORPHANET
Search interest in CCDC141
Potential gene panels for CCDC141 gene
Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E SOX10 SOX2 SOX3 TAC3 TACR3 WDR11 SPRY4 PROKR2
More info about this panelFemale Infertility Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panelMale Infertility Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Male Infertility Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E FOXL2 BRDT SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panelDisorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panelCCDC141 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CCDC141 gene.
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