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Short stature due to primary acid-labile subunit deficiency(ACLSD)

MedGen UID:
859716
•Concept ID:
C3900122
•
Laboratory or Test Result
Synonyms: Acid-labile subunit deficiency; Acid-labile subunit, deficiency of
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): IGFALS (16p13.3)
 
Monarch Initiative: MONDO:0014420
OMIM®: 615961
Orphanet: ORPHA140941

Definition

Acid-labile subunit deficiency is characterized by severely reduced serum insulin-like growth factor I (IGF1; 147440) and IGF-binding protein-3 (IGFBP3; 146732) concentrations that are incongruent with an associated mild growth retardation (height, -2 to -3 SD before and during puberty). Pubertal delay in boys and insulin insensitivity are common findings (summary by Domene et al., 2011). [from OMIM]

Clinical features

From HPO
Mild postnatal growth retardation
MedGen UID:
320640
•Concept ID:
C1835580
•
Finding
A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms.
See: Feature record | Search on this feature
Insulin insensitivity
MedGen UID:
350460
•Concept ID:
C1864570
•
Finding
Decreased sensitivity toward insulin.
See: Feature record | Search on this feature
Reduced insulin like growth factor binding protein acid labile subunit concentration
MedGen UID:
1390100
•Concept ID:
C4321359
•
Finding
An abnormally decreased concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation.
See: Feature record | Search on this feature
Delayed puberty
MedGen UID:
46203
•Concept ID:
C0034012
•
Pathologic Function
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
See: Feature record | Search on this feature
Decreased serum insulin-like growth factor 1
MedGen UID:
892792
•Concept ID:
C4072897
•
Finding
A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVShort stature due to primary acid-labile subunit deficiency

Professional guidelines

PubMed

Challenges in the Management of Short Stature.
Argente J
Horm Res Paediatr 2016;85(1):2-10. Epub 2015 Dec 10 doi: 10.1159/000442350. PMID: 26649429
Insulin-like growth factor-I deficiency in children with growth hormone insensitivity: current and future treatment options.
Kemp SF
BioDrugs 2009;23(3):155-63. doi: 10.2165/00063030-200923030-00002. PMID: 19627167

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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