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.

Clinical Features

Phenotypes and symptoms related to Short Stature Due To Primary Acid-labile Subunit Deficiency

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

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Short Stature Due To Primary Acid-labile Subunit Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Short stature due to primary acid-labile subunit deficiency (sequence analysis of IGFALS gene).

By CGC Genetics (Portugal).

IGFALS
Specificity
100 %
Genes
100 %
IGFALS.

By Fulgent Genetics Fulgent Genetics (United States).

IGFALS
Specificity
100 %
Genes
100 %
Comprehensive Short Stature Syndrome Panel.

By Blueprint Genetics (Finland).

RIT1, BCS1L, RRAS, SHOX, BRAF, SMC1A, SOS1, SOX2, SOX3, STAT5B, TBX19, TBX3, XRCC4, ACTB, HDAC8, ACTG1, CBL, SHOC2, PCNT, SRCAP , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics (Finland).

RIT1, RMRP, BCS1L, ROR2, BGN, RRAS, RUNX2, BMP1, BMP2, SEC24D, BMPR1B, SF3B4, SH3BP2, SHOX, SKI, SLCO2A1, BRAF, SLC26A2, SMARCAL1, SMC1A , (...)

View the complete list with 284 more genes
Specificity
1 %
Genes
100 %

We have -4 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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