SOHLH1 gene related symptoms and diseases
All the information presented here about the SOHLH1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SOHLH1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Azoospermia | Common - Between 50% and 80% cases |
| Infertility | Uncommon - Between 30% and 50% cases |
| Male infertility | Uncommon - Between 30% and 50% cases |
| Short stature | Uncommon - Between 30% and 50% cases |
| Delayed skeletal maturation | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SOHLH1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Amenorrhea
- Primary amenorrhea
- Hypoplasia of the uterus
- Decreased testicular size
- Increased circulating gonadotropin level
- Abnormal spermatogenesis
- Obstructive azoospermia
- Non-obstructive azoospermia
Rare diseases associated to SOHLH1 gene
Here you will find a list of rare diseases related to the SOHLH1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SPERMATOGENIC FAILURE 32; SPGF32
Description
Spermatogenic failure-32 is characterized by male infertility due to nonobstructive azoospermia. Testicular biopsy has shown absence of spermatogenic cells and a Sertoli cell-only pattern (Choi et al., 2010).For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see {258150}.
Most common symptoms of SPERMATOGENIC FAILURE 32; SPGF32
- Infertility
- Azoospermia
- Male infertility
More info about SPERMATOGENIC FAILURE 32; SPGF32
SOURCES: OMIM
OVARIAN DYSGENESIS 5; ODG5
Most common symptoms of OVARIAN DYSGENESIS 5; ODG5
- Short stature
- Delayed skeletal maturation
- Amenorrhea
- Primary amenorrhea
- Hypoplasia of the uterus
More info about OVARIAN DYSGENESIS 5; ODG5
SOURCES: OMIM
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION
Description
Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.
Most common symptoms of MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION
- Decreased testicular size
- Azoospermia
- Increased circulating gonadotropin level
- Abnormal spermatogenesis
- Obstructive azoospermia
More info about MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION
SOURCES: ORPHANET
Search interest in SOHLH1
Potential gene panels for SOHLH1 gene
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 United States.
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 United States.
Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection that also includes the following genes: BMP15 FOXL2 STAG3 MCM8 PSMC3IP HFM1 CLPP MCM9 NOBOX FIGLA
More info about this panel United States.
Premature Ovarian Failure/Ovarian Dysgenesis via SOHLH1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SOHLH1 gene.
More info about this panel United States.
SOHLH1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SOHLH1 gene.
More info about this panel United States.
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