Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency.

Journal of endocrinological investigation - 1 Apr 2015

Storr H L, Prasad R, Temple I K, Metherell L A, Savage M O, Walker J M

Abstract excerpt

PURPOSE: The IGFALS gene encodes the acid-labile subunit (ALS) protein, which regulates circulating IGF-1. Human IGFALS mutations cause growth hormone insensitivity (GHI) associated with ALS, IGF-1 and IGFBP-3 deficiencies and mild to moderate postnatal growth impairment (height SDS -2 to -4). Prenatal growth impairment is not a recognised feature of this disorder, but heterozygous carriers may show an...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Carrier Proteins
Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fetal Growth Retardation

Share to Glycoproteins

Share to Growth Disorders

Share to Infant, Small for Gestational Age

Share to Nuclear Family

Source

Identifiers

PMID: 25352235
DOI: 10.1007/s40618-014-0195-1

Genes

SDS
IGFALS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency.PMID 25352235Read ↗

Clinical features of a new acid-labile subunit (IGFALS) heterozygous mutation: anthropometric and biochemical characterization and response to growth hormone administration.Semantic proximity Read ↗

Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia.Semantic proximity Read ↗

Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations.Semantic proximity Read ↗

Heterozygous IGFALS gene variants in idiopathic short stature and normal children: impact on height and the IGF system.Semantic proximity Read ↗

Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium.Semantic proximity Read ↗

Acid-labile subunit deficiency: phenotypic similarities and differences between human and mouse.Semantic proximity Read ↗

IGF-I in human growth: lessons from defects in the GH-IGF-I axis.Semantic proximity Read ↗

Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins.Semantic proximity Read ↗

Pre- and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment.Semantic proximity Read ↗

Homozygous and heterozygous expression of a novel mutation of the acid-labile subunit.Semantic proximity Read ↗

Clinical and biochemical characteristics and bone mineral density of homozygous, compound heterozygous and heterozygous carriers of three novel IGFALS mutations.Semantic proximity Read ↗

Paternally Inherited IGF2 Mutation and Growth Restriction.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.