1. Mendelian
  2. Rare Disease Genes
  3. IGFALS

IGFALS gene related symptoms and diseases

All the information presented here about the IGFALS 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.

Table of contents:

Top 5 symptoms and clinical features associated to IGFALS gene

Symptoms // Phenotype % Cases
Growth delay Very Common - Between 80% and 100% cases
Micrognathia Very Common - Between 80% and 100% cases
Delayed skeletal maturation Very Common - Between 80% and 100% cases
Delayed puberty Very Common - Between 80% and 100% cases
Insulin resistance Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with IGFALS gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Truncal obesity
  • Decreased serum insulin-like growth factor 1
  • Mild postnatal growth retardation
  • Insulin insensitivity
  • Reduced insulin like growth factor binding protein acid labile subunit level

Rare diseases associated to IGFALS gene

Here you will find a list of rare diseases related to the IGFALS. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SHORT STATURE DUE TO PRIMARY ACID-LABILE SUBUNIT DEFICIENCY

Description

Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.

Most common symptoms of SHORT STATURE DUE TO PRIMARY ACID-LABILE SUBUNIT DEFICIENCY

  • Growth delay
  • Micrognathia
  • Delayed skeletal maturation
  • Delayed puberty
  • Insulin resistance


More info about SHORT STATURE DUE TO PRIMARY ACID-LABILE SUBUNIT DEFICIENCY

SOURCES: OMIM ORPHANET


Potential gene panels for IGFALS gene

Short stature due to primary acid-labile subunit deficiency (sequence analysis of IGFALS gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the IGFALS gene.

More info about this panel
Portugal.

IGFALS Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the IGFALS gene.

More info about this panel
United States.

Comprehensive Short Stature Syndrome Panel Panel

Finland.

By Blueprint Genetics Comprehensive Short Stature Syndrome Panel that also includes the following genes: RIT1 BCS1L RRAS SHOX BRAF SMC1A SOS1 SOX2 SOX3 STAT5B

More info about this panel
Finland.

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel
Finland.

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