IGSF1 gene related symptoms and diseases
All the information presented here about the IGSF1 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 IGSF1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Growth delay | Very Common - Between 80% and 100% cases |
| Hypoplasia of the corpus callosum | Very Common - Between 80% and 100% cases |
| Hypothyroidism | Very Common - Between 80% and 100% cases |
| Delayed puberty | Very Common - Between 80% and 100% cases |
| Overweight | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with IGSF1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Macroorchidism
- Central hypothyroidism
Rare diseases associated to IGSF1 gene
Here you will find a list of rare diseases related to the IGSF1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
X-LINKED CENTRAL CONGENITAL HYPOTHYROIDISM WITH LATE-ONSET TESTICULAR ENLARGEMENT
Alternate names
X-LINKED CENTRAL CONGENITAL HYPOTHYROIDISM WITH LATE-ONSET TESTICULAR ENLARGEMENT Is also known as igsf1 deficiency syndrome, x-linked central congenital hypothyroidism with late-onset macroorchidism
Description
X-linked central congenital hypothyroidism with late-onset testicular enlargement is a rare, genetic, endocrine disease characterized by central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, small thyroid gland, and variable prolactin and growth hormone deficiency.
Most common symptoms of X-LINKED CENTRAL CONGENITAL HYPOTHYROIDISM WITH LATE-ONSET TESTICULAR ENLARGEMENT
- Growth delay
- Hypoplasia of the corpus callosum
- Hypothyroidism
- Delayed puberty
- Overweight
More info about X-LINKED CENTRAL CONGENITAL HYPOTHYROIDISM WITH LATE-ONSET TESTICULAR ENLARGEMENT
Search interest in IGSF1
Potential gene panels for IGSF1 gene
Congenital Hypothyroidism Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Hypothyroidism Deletion/Duplication Panel that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB KDM6A DUOX2
More info about this panel United States.
Congenital Hypothyroidism Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Hypothyroidism Sequencing Panel that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB KDM6A DUOX2
More info about this panel United States.
IGSF1 mutation analysis Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the IGSF1 gene.
More info about this panel Netherlands.
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TRH TSHB DUOX2
More info about this panel United States.
Congenital Hypothyroidism (Central Hypothyroidism and Testicular Enlargement) via IGSF1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the IGSF1 gene.
More info about this panel United States.
IGSF1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the IGSF1 gene.
More info about this panel United States.
X-chromosome High Resolution microarray analysis Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
More info about this panel United States.
Hypothyroidism and Resistance to Thyroid Hormone Panel Panel
Finland.
By Blueprint Genetics Hypothyroidism and Resistance to Thyroid Hormone Panel that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB DUOX2 NKX2-5
More info about this panel Finland.
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