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.

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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


Potential gene panels for CCDC141 gene

Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection Panel

United States.

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 panel

Female Infertility Sequencing Panel with CNV Detection Panel

United States.

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 panel

Male Infertility Sequencing Panel with CNV Detection Panel

United States.

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 panel

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

United States.

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 panel

CCDC141 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CCDC141 gene.

More info about this panel


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